|
GRK1
(HGNC:10013)
|
Oguchi disease
(MONDO_0019152)
|
Strong
|
|
|
RNASE1
(HGNC:10044)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
RING1
(HGNC:10018)
|
leukemia
(MONDO_0005059)
|
Limited
|
|
|
RNF4
(HGNC:10067)
|
Prader-Willi syndrome
(MONDO_0008300)
|
Limited
|
|
|
RNASE3
(HGNC:10046)
|
asthma
(MONDO_0004979)
|
Strong
|
|
|
RNASE4
(HGNC:10047)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
RNF7
(HGNC:10070)
|
Oguchi disease
(MONDO_0019152)
|
Strong
|
|
|
RNMT
(HGNC:10075)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
ROR1
(HGNC:10256)
|
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
|
Strong
|
|
|
BDH1
(HGNC:1027)
|
chromosome 3q29 microduplication syndrome
(MONDO_0012761)
|
Moderate
|
|
|
TRIM10
(HGNC:10072)
|
Parkinson disease
(MONDO_0005180)
|
Moderate
|
|
|
RPL15
(HGNC:10306)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Moderate
|
|
|
RPL18
(HGNC:10310)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPL17
(HGNC:10307)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPL8
(HGNC:10368)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPS17
(HGNC:10397)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPS29
(HGNC:10419)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPS7
(HGNC:10440)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPS28
(HGNC:10418)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RRAD
(HGNC:10446)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
RTN2
(HGNC:10468)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
S100A2
(HGNC:10492)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
RTN3
(HGNC:10469)
|
Alzheimer disease
(MONDO_0004975)
|
Limited
|
|
|
RRAD
(HGNC:10446)
|
Brugada syndrome
(MONDO_0015263)
|
Strong
|
|
|
S100P
(HGNC:10504)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
SALL2
(HGNC:10526)
|
nephrotic syndrome
(MONDO_0005377)
|
Limited
|
|
|
SC5D
(HGNC:10547)
|
lathosterolosis
(MONDO_0011816)
|
Strong
|
|
|
SARS1
(HGNC:10537)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
STMN2
(HGNC:10577)
|
osteoarthritis
(MONDO_0005178)
|
Limited
|
|
|
CLEC11A
(HGNC:10576)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
SALL2
(HGNC:10526)
|
Alport syndrome
(MONDO_0018965)
|
Limited
|
|
|
CNNM4
(HGNC:105)
|
Jalili syndrome
(MONDO_0009007)
|
Strong
|
|
|
SCML2
(HGNC:10581)
|
Nance-Horan syndrome
(MONDO_0010545)
|
Disputed
|
|
|
SAR1B
(HGNC:10535)
|
chylomicron retention disease
(MONDO_0009528)
|
Strong
|
|
|
BLMH
(HGNC:1059)
|
Alzheimer disease
(MONDO_0004975)
|
Limited
|
|
|
SERF1A
(HGNC:10755)
|
spinal muscular atrophy
(MONDO_0001516)
|
Limited
|
|
|
SDC3
(HGNC:10660)
|
obesity disorder
(MONDO_0011122)
|
Limited
|
|
|
BMP8B
(HGNC:1075)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
SEMA3B
(HGNC:10724)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
SF3A1
(HGNC:10765)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
CCL19
(HGNC:10617)
|
tuberculosis
(MONDO_0018076)
|
Limited
|
|
|
SF3B2
(HGNC:10769)
|
craniofacial microsomia
(MONDO_0015397)
|
Strong
|
|
|
SETMAR
(HGNC:10762)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
SHMT2
(HGNC:10852)
|
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
(MONDO_0030866)
|
Strong
|
|
|
SRSF5
(HGNC:10787)
|
bipolar disorder
(MONDO_0004985)
|
Moderate
|
|
|
SI
(HGNC:10856)
|
congenital sucrase-isomaltase deficiency
(MONDO_0009114)
|
Strong
|
|
|
SKP1
(HGNC:10899)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
SHOX2
(HGNC:10854)
|
atrial fibrillation
(MONDO_0004981)
|
Strong
|
|
|
ST3GAL5
(HGNC:10872)
|
GM3 synthase deficiency
(MONDO_0018274)
|
Strong
|
|
|
CCL1
(HGNC:10609)
|
chronic obstructive pulmonary disease
(MONDO_0005002)
|
Limited
|
|
|
SLC25A10
(HGNC:10980)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Moderate
|
|
|
SLC12A7
(HGNC:10915)
|
congenital hydrocephalus
(MONDO_0016349)
|
Limited
|
|
|
SLC24A1
(HGNC:10975)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
SLC2A5
(HGNC:11010)
|
hereditary fructose intolerance
(MONDO_0009249)
|
Refuted
|
|
|
SLC32A1
(HGNC:11018)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Strong
|
|
|
SLC30A3
(HGNC:11014)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
SLC8A2
(HGNC:11069)
|
gastric cancer
(MONDO_0001056)
|
Limited
|
|
|
SLC35A1
(HGNC:11021)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
SMARCC2
(HGNC:11105)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
SIGLEC1
(HGNC:11127)
|
pancreatic ductal adenocarcinoma
(MONDO_0005184)
|
Limited
|
|
|
SLC6A6
(HGNC:11052)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
SLPI
(HGNC:11092)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
SNAP29
(HGNC:11133)
|
CEDNIK syndrome
(MONDO_0012290)
|
Strong
|
|
|
SNCB
(HGNC:11140)
|
Lewy body dementia
(MONDO_0007488)
|
Strong
|
|
|
SMARCD3
(HGNC:11108)
|
plasma cell myeloma
(MONDO_0009693)
|
Strong
|
|
|
SNAPC4
(HGNC:11137)
|
ankylosing spondylitis
(MONDO_0005306)
|
Limited
|
|
|
FSCN1
(HGNC:11148)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
FSCN1
(HGNC:11148)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
SNRNP70
(HGNC:11150)
|
mixed connective tissue disease
(MONDO_0005854)
|
Strong
|
|
|
SNRPB
(HGNC:11153)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
SNRPB
(HGNC:11153)
|
cerebrocostomandibular syndrome
(MONDO_0007301)
|
Strong
|
|
|
SOX18
(HGNC:11194)
|
hypotrichosis-lymphedema-telangiectasia syndrome
(MONDO_0011914)
|
Strong
|
|
|
SPAG6
(HGNC:11215)
|
male infertility
(MONDO_0005372)
|
Limited
|
|
|
SNRPF
(HGNC:11162)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
SPARCL1
(HGNC:11220)
|
corneal dystrophy
(MONDO_0018102)
|
Strong
|
|
|
SPIB
(HGNC:11242)
|
primary biliary cholangitis
(MONDO_0005388)
|
Strong
|
|
|
SPAG6
(HGNC:11215)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
SPRR2B
(HGNC:11262)
|
asthma
(MONDO_0004979)
|
Strong
|
|
|
SPON1
(HGNC:11252)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
SRP72
(HGNC:11303)
|
aplastic anemia
(MONDO_0015909)
|
Strong
|
|
|
SRP72
(HGNC:11303)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Limited
|
|
|
SPRR2B
(HGNC:11262)
|
atopic eczema
(MONDO_0004980)
|
Strong
|
|
|
SRPK2
(HGNC:11306)
|
congenital heart disease
(MONDO_0005453)
|
Disputed
|
|
|
SRPK2
(HGNC:11306)
|
atrial septal defect
(MONDO_0006664)
|
Limited
|
|
|
SRP72
(HGNC:11303)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
SSR4
(HGNC:11326)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
SSR3
(HGNC:11325)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Limited
|
|
|
SSX1
(HGNC:11335)
|
synovial sarcoma
(MONDO_0010434)
|
Strong
|
|
|
SS18
(HGNC:11340)
|
synovial sarcoma
(MONDO_0010434)
|
Strong
|
|
|
STK24
(HGNC:11403)
|
keratoconus
(MONDO_0015486)
|
Limited
|
|
|
SRPK3
(HGNC:11402)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
SUCLG2
(HGNC:11450)
|
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
|
Moderate
|
|
|
STX3
(HGNC:11438)
|
microvillus inclusion disease
(MONDO_0009635)
|
Strong
|
|
|
STX16
(HGNC:11431)
|
pseudohypoparathyroidism
(MONDO_0019992)
|
Strong
|
|
|
VAMP7
(HGNC:11486)
|
Rett syndrome
(MONDO_0010726)
|
Limited
|
|
|
TAF6
(HGNC:11540)
|
Wiedemann-Steiner syndrome
(MONDO_0011518)
|
Moderate
|
|
|
SVIL
(HGNC:11480)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
TALDO1
(HGNC:11559)
|
transaldolase deficiency
(MONDO_0011624)
|
Strong
|
|
|
TAF6
(HGNC:11540)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Moderate
|
|
|
TBX19
(HGNC:11596)
|
congenital isolated adrenocorticotropic hormone deficiency
(MONDO_0008720)
|
Strong
|
|
|
ELOC
(HGNC:11617)
|
clear cell renal carcinoma
(MONDO_0005005)
|
Limited
|
|
|
TCP11
(HGNC:11658)
|
inflammatory bowel disease
(MONDO_0005265)
|
Limited
|
|
|
ELOC
(HGNC:11617)
|
von Hippel-Lindau disease
(MONDO_0008667)
|
Moderate
|
|
|
TEC
(HGNC:11719)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
TEC
(HGNC:11719)
|
rheumatoid arthritis
(MONDO_0008383)
|
Limited
|
|
|
DAGLA
(HGNC:1165)
|
attention deficit-hyperactivity disorder
(MONDO_0007743)
|
Limited
|
|
|
TFCP2
(HGNC:11748)
|
Alzheimer disease
(MONDO_0004975)
|
Disputed
|
|
|
TFDP2
(HGNC:11751)
|
chronic kidney disease
(MONDO_0005300)
|
Strong
|
|
|
MRPL49
(HGNC:1176)
|
combined oxidative phosphorylation deficiency
(MONDO_0000732)
|
Strong
|
|
|
TGM5
(HGNC:11781)
|
acral peeling skin syndrome
(MONDO_0012345)
|
Strong
|
|
|
THBS3
(HGNC:11787)
|
gastric cancer
(MONDO_0001056)
|
Moderate
|
|
|
TGM3
(HGNC:11779)
|
uncombable hair syndrome
(MONDO_0008621)
|
Strong
|
|
|
TLL2
(HGNC:11844)
|
spinal muscular atrophy
(MONDO_0001516)
|
Limited
|
|
|
ANO2
(HGNC:1183)
|
panic disorder
(MONDO_0005383)
|
Limited
|
|
|
NPAP1
(HGNC:1190)
|
Prader-Willi syndrome
(MONDO_0008300)
|
Limited
|
|
|
TNP2
(HGNC:11952)
|
male infertility
(MONDO_0005372)
|
Limited
|
|
|
FERRY3
(HGNC:1184)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
TOMM70
(HGNC:11985)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
TNP2
(HGNC:11952)
|
azoospermia
(MONDO_0100459)
|
Disputed
|
|
|
BHLHE22
(HGNC:11963)
|
Glanzmann thrombasthenia
(MONDO_0100326)
|
Strong
|
|
|
TPO
(HGNC:12015)
|
congenital hypothyroidism
(MONDO_0018612)
|
Limited
|
|
|
TOMM70
(HGNC:11985)
|
COVID-19
(MONDO_0100096)
|
Limited
|
|
|
CEP41
(HGNC:12370)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
TSHB
(HGNC:12372)
|
central congenital hypothyroidism
(MONDO_0016410)
|
Strong
|
|
|
LDLRAD4
(HGNC:1224)
|
periodontitis
(MONDO_0005076)
|
Strong
|
|
|
TSHB
(HGNC:12372)
|
congenital hypothyroidism
(MONDO_0018612)
|
Strong
|
|
|
TUBG2
(HGNC:12419)
|
polymicrogyria
(MONDO_0000087)
|
Limited
|
|
|
TTC3
(HGNC:12393)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
UBAP1
(HGNC:12461)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
C1R
(HGNC:1246)
|
Ehlers-Danlos syndrome, periodontitis type
(MONDO_0007527)
|
Strong
|
|
|
UBA7
(HGNC:12471)
|
Crohn disease
(MONDO_0005011)
|
Limited
|
|
|
UBA7
(HGNC:12471)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
C1S
(HGNC:1247)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
UBA7
(HGNC:12471)
|
ulcerative colitis
(MONDO_0005101)
|
Limited
|
|
|
UBE2H
(HGNC:12484)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
UBE4A
(HGNC:12499)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
UCN
(HGNC:12516)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
UBE2N
(HGNC:12492)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
UFD1
(HGNC:12520)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
ACP5
(HGNC:124)
|
Spondyloenchondrodysplasia with immune dysregulation
(MONDO_0011939)
|
Strong
|
|
|
UGP2
(HGNC:12527)
|
glycogen storage disease II
(MONDO_0009290)
|
Limited
|
|
|
UNC119
(HGNC:12565)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
USP14
(HGNC:12612)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
USP2
(HGNC:12618)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
USP28
(HGNC:12625)
|
glioma
(MONDO_0021042)
|
Strong
|
|
|
USP28
(HGNC:12625)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
VAMP5
(HGNC:12646)
|
Hirschsprung disease
(MONDO_0018309)
|
Strong
|
|
|
USP6
(HGNC:12629)
|
aneurysmal bone cyst
(MONDO_0018815)
|
Strong
|
|
|
VDAC3
(HGNC:12674)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
VPREB1
(HGNC:12709)
|
B-cell acute lymphoblastic leukemia
(MONDO_0004947)
|
Strong
|
|
|
WASL
(HGNC:12735)
|
gastric cancer
(MONDO_0001056)
|
Limited
|
|
|
ACR
(HGNC:126)
|
Phelan-McDermid syndrome
(MONDO_0011652)
|
Limited
|
|
|
WDR3
(HGNC:12755)
|
differentiated thyroid carcinoma
(MONDO_0015447)
|
Strong
|
|
|
WDR4
(HGNC:12756)
|
isolated growth hormone deficiency type IA
(MONDO_0009876)
|
Limited
|
|
|
TSPEAR
(HGNC:1268)
|
ectodermal dysplasia syndrome
(MONDO_0019287)
|
Strong
|
|
|
LAT2
(HGNC:12749)
|
Williams syndrome
(MONDO_0008678)
|
Limited
|
|
|
WNT8B
(HGNC:12789)
|
bladder exstrophy
(MONDO_0010805)
|
Limited
|
|
|
XPOT
(HGNC:12826)
|
12q14 microdeletion syndrome
(MONDO_0019784)
|
Limited
|
|
|
REXO4
(HGNC:12820)
|
familial isolated pituitary adenoma
(MONDO_0017824)
|
Limited
|
|
|
XPNPEP2
(HGNC:12823)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
WNT6
(HGNC:12785)
|
bladder exstrophy
(MONDO_0010805)
|
Limited
|
|
|
YWHAH
(HGNC:12853)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
ZNF12
(HGNC:12902)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
YME1L1
(HGNC:12843)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
ZNF141
(HGNC:12926)
|
Huntington disease
(MONDO_0007739)
|
Moderate
|
|
|
XRN2
(HGNC:12836)
|
autism spectrum disorder
(MONDO_0005258)
|
Strong
|
|
|
ZBTB16
(HGNC:12930)
|
acute promyelocytic leukemia
(MONDO_0012883)
|
Strong
|
|
|
ZNF142
(HGNC:12927)
|
neurodevelopmental disorder with impaired speech and hyperkinetic movements
(MONDO_0032741)
|
Strong
|
|
|
TRIM26
(HGNC:12962)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
ZBTB17
(HGNC:12936)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
SF1
(HGNC:12950)
|
multiple endocrine neoplasia type 1
(MONDO_0007540)
|
Disputed
|
|
|
ZNF182
(HGNC:13001)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ZNF184
(HGNC:12975)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
ZNF224
(HGNC:13017)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
ZNF202
(HGNC:12994)
|
myocardial ischemia
(MONDO_0024644)
|
Strong
|
|
|
ZMYM5
(HGNC:13029)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ZNF44
(HGNC:13110)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ZNF41
(HGNC:13107)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
ZNF44
(HGNC:13110)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
CNBP
(HGNC:13164)
|
myotonic dystrophy type 2
(MONDO_0011266)
|
Strong
|
|
|
CNBP
(HGNC:13164)
|
myotonic dystrophy
(MONDO_0016107)
|
Strong
|
|
|
ZP2
(HGNC:13188)
|
female infertility
(MONDO_0021124)
|
Strong
|
|
|
FTSJ1
(HGNC:13254)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
ADAMTS10
(HGNC:13201)
|
Weill-Marchesani syndrome
(MONDO_0018096)
|
Definitive
|
|
|
CAPN12
(HGNC:13249)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
CLEC4A
(HGNC:13257)
|
rheumatoid arthritis
(MONDO_0008383)
|
Strong
|
|
|
EI24
(HGNC:13276)
|
osteosarcoma
(MONDO_0009807)
|
Limited
|
|
|
ECE2
(HGNC:13275)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
NEK8
(HGNC:13387)
|
nephronophthisis
(MONDO_0019005)
|
Strong
|
|
|
NAPSA
(HGNC:13395)
|
lung adenocarcinoma
(MONDO_0005061)
|
Strong
|
|
|
SLC30A9
(HGNC:1329)
|
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
(MONDO_0044726)
|
Strong
|
|
|
PBX4
(HGNC:13403)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
PRUNE1
(HGNC:13420)
|
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
(MONDO_0060490)
|
Strong
|
|
|
ROBO3
(HGNC:13433)
|
horizontal gaze palsy with progressive scoliosis
(MONDO_0011810)
|
Definitive
|
|
|
SLITRK2
(HGNC:13449)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
UBE3B
(HGNC:13478)
|
oculocerebrofacial syndrome, Kaufman type
(MONDO_0009485)
|
Strong
|
|
|
FAM78B
(HGNC:13495)
|
chronic kidney disease
(MONDO_0005300)
|
Moderate
|
|
|
UGT2B28
(HGNC:13479)
|
endometriosis
(MONDO_0005133)
|
Limited
|
|
|
UGT2B28
(HGNC:13479)
|
prostate cancer
(MONDO_0008315)
|
Disputed
|
|
|
FEZF2
(HGNC:13506)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ATP8B3
(HGNC:13535)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
ATP9A
(HGNC:13540)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
ATP10B
(HGNC:13543)
|
Parkinson disease
(MONDO_0005180)
|
Disputed
|
|
|
ATP10D
(HGNC:13549)
|
myocardial infarction
(MONDO_0005068)
|
Strong
|
|
|
IFT122
(HGNC:13556)
|
cranioectodermal dysplasia
(MONDO_0009032)
|
Strong
|
|
|
ERLIN2
(HGNC:1356)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
MAGEC2
(HGNC:13574)
|
melanoma
(MONDO_0005105)
|
Strong
|
|
|
BRD4
(HGNC:13575)
|
nut midline carcinoma
(MONDO_0005563)
|
Strong
|
|
|
FBXL7
(HGNC:13604)
|
Hennekam syndrome
(MONDO_0016256)
|
Limited
|
|
|
PABPC5
(HGNC:13629)
|
attention deficit hyperactivity disorder, inattentive type
(MONDO_0005302)
|
Limited
|
|
|
PABPC5
(HGNC:13629)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
TMEM187
(HGNC:13705)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
SCG3
(HGNC:13707)
|
obesity disorder
(MONDO_0011122)
|
Moderate
|
|
|
POF1B
(HGNC:13711)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
MAEA
(HGNC:13731)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
RELT
(HGNC:13764)
|
amelogenesis imperfecta
(MONDO_0019507)
|
Strong
|
|
|
IGDCC4
(HGNC:13770)
|
age-related macular degeneration
(MONDO_0005150)
|
Limited
|
|
|
GFM1
(HGNC:13780)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
PRX
(HGNC:13797)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
SLCO1C1
(HGNC:13819)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
ZNF311
(HGNC:13847)
|
cancer
(MONDO_0004992)
|
Limited
|
|
|
SCAND3
(HGNC:13851)
|
cardiovascular disorder
(MONDO_0004995)
|
Limited
|
|
|
SCAND3
(HGNC:13851)
|
hypertensive disorder
(MONDO_0005044)
|
Limited
|
|
|
CABP4
(HGNC:1386)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
SGK2
(HGNC:13900)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Limited
|
|
|
ABHD16A
(HGNC:13921)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
PRDM12
(HGNC:13997)
|
channelopathy-associated congenital insensitivity to pain, autosomal recessive
(MONDO_0009459)
|
Strong
|
|
|
PRDM13
(HGNC:13998)
|
North Carolina macular dystrophy
(MONDO_0007630)
|
Definitive
|
|
|
PRDM15
(HGNC:13999)
|
chronic obstructive pulmonary disease
(MONDO_0005002)
|
Moderate
|
|
|
MRPL15
(HGNC:14054)
|
benign essential blepharospasm
(MONDO_0011728)
|
Limited
|
|
|
SLC5A7
(HGNC:14025)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
HDAC7
(HGNC:14067)
|
multiple sclerosis
(MONDO_0005301)
|
Strong
|
|
|
HDAC7
(HGNC:14067)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
CACNG3
(HGNC:1407)
|
childhood absence epilepsy
(MONDO_0010826)
|
Strong
|
|
|
ATP1A4
(HGNC:14073)
|
pelvic organ prolapse
(MONDO_0000082)
|
Limited
|
|
|
RTN4
(HGNC:14085)
|
schizophrenia
(MONDO_0005090)
|
Disputed
|
|
|
PIGQ
(HGNC:14135)
|
infantile epileptic-dyskinetic encephalopathy
(MONDO_0018226)
|
Strong
|
|
|
HS3ST6
(HGNC:14178)
|
hereditary angioedema
(MONDO_0019623)
|
Moderate
|
|
|
AVIL
(HGNC:14188)
|
multiple sclerosis
(MONDO_0005301)
|
Limited
|
|
|
ARHGEF12
(HGNC:14193)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Disputed
|
|
|
ARHGEF12
(HGNC:14193)
|
OPTN-related open angle glaucoma
(MONDO_0100553)
|
Strong
|
|
|
JPH1
(HGNC:14201)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
DERL3
(HGNC:14236)
|
coronary artery disorder
(MONDO_0005010)
|
Moderate
|
|
|
MED15
(HGNC:14248)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
RAB23
(HGNC:14263)
|
Carpenter syndrome
(MONDO_0019012)
|
Strong
|
|
|
BRPF1
(HGNC:14255)
|
intellectual developmental disorder with dysmorphic facies and ptosis
(MONDO_0015022)
|
Strong
|
|
|
GAR1
(HGNC:14264)
|
dyskeratosis congenita
(MONDO_0015780)
|
Limited
|
|
|
MRPL4
(HGNC:14276)
|
allergic rhinitis
(MONDO_0011786)
|
Moderate
|
|
|
MS4A6E
(HGNC:14285)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
NLGN2
(HGNC:14290)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
NLGN2
(HGNC:14290)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
GLMN
(HGNC:14373)
|
glomuvenous malformation
(MONDO_0007672)
|
Strong
|
|
|
BAALC
(HGNC:14333)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
ACP4
(HGNC:14376)
|
amelogenesis imperfecta
(MONDO_0019507)
|
Strong
|
|
|
WDR13
(HGNC:14352)
|
X-linked intellectual disability
(MONDO_0100284)
|
Moderate
|
|
|
OPN4
(HGNC:14449)
|
circadian rhythm sleep disorder, delayed sleep phase type
(MONDO_0024377)
|
Limited
|
|
|
ELOVL1
(HGNC:14418)
|
cerebral palsy
(MONDO_0006497)
|
Strong
|
|
|
ELOVL1
(HGNC:14418)
|
progressive supranuclear palsy
(MONDO_0019037)
|
Strong
|
|
|
KCNK16
(HGNC:14464)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CALM3
(HGNC:1449)
|
long QT syndrome
(MONDO_0002442)
|
Strong
|
|
|
MRPS23
(HGNC:14509)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
RASGRP3
(HGNC:14545)
|
oral cavity cancer
(MONDO_0005515)
|
Moderate
|
|
|
RASGRP3
(HGNC:14545)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
CLEC4E
(HGNC:14555)
|
pulmonary tuberculosis
(MONDO_0006052)
|
Limited
|
|
|
KIF13A
(HGNC:14566)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Limited
|
|
|
KIF13A
(HGNC:14566)
|
progressive supranuclear palsy
(MONDO_0019037)
|
Moderate
|
|
|
VPS16
(HGNC:14584)
|
dystonic disorder
(MONDO_0003441)
|
Strong
|
|
|
NET1
(HGNC:14592)
|
attention deficit-hyperactivity disorder
(MONDO_0007743)
|
Limited
|
|
|
TINAG
(HGNC:14599)
|
dermatophytosis
(MONDO_0004678)
|
Strong
|
|
|
TINAG
(HGNC:14599)
|
pectus excavatum
(MONDO_0008213)
|
Limited
|
|
|
MRPS7
(HGNC:14499)
|
Perrault syndrome
(MONDO_0017312)
|
Strong
|
|
|
DSCAML1
(HGNC:14656)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
SPATA2
(HGNC:14681)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
CDCA5
(HGNC:14626)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Limited
|
|
|
CAMP
(HGNC:1472)
|
psoriasis
(MONDO_0005083)
|
Limited
|
|
|
CAPN11
(HGNC:1478)
|
benign essential blepharospasm
(MONDO_0011728)
|
Limited
|
|
|
DCD
(HGNC:14669)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
CAPN5
(HGNC:1482)
|
CAPN5-related vitreoretinopathy
(MONDO_0100450)
|
Strong
|
|
|
PPP1R14A
(HGNC:14871)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
COG5
(HGNC:14857)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
TAS2R7
(HGNC:14913)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
GTPBP3
(HGNC:14880)
|
combined oxidative phosphorylation defect type 23
(MONDO_0014525)
|
Strong
|
|
|
GPR37L1
(HGNC:14923)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
GPR37L1
(HGNC:14923)
|
migraine disorder
(MONDO_0005277)
|
Strong
|
|
|
TAS2R13
(HGNC:14919)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
TSSK1B
(HGNC:14968)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
PIGS
(HGNC:14937)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
OR13G1
(HGNC:14999)
|
coronary artery disorder
(MONDO_0005010)
|
Disputed
|
|
|
OR13G1
(HGNC:14999)
|
myocardial infarction
(MONDO_0005068)
|
Disputed
|
|
|
SNX10
(HGNC:14974)
|
autosomal recessive osteopetrosis
(MONDO_0019026)
|
Strong
|
|
|
OR4S2
(HGNC:15183)
|
obesity disorder
(MONDO_0011122)
|
Strong
|
|
|
OR9K2
(HGNC:15339)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
OR13C8
(HGNC:15103)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
CBFA2T3
(HGNC:1537)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
ZNF331
(HGNC:15489)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
XYLT2
(HGNC:15517)
|
spondylo-ocular syndrome
(MONDO_0011604)
|
Strong
|
|
|
LBX2
(HGNC:15525)
|
atrial septal defect
(MONDO_0006664)
|
Strong
|
|
|
NLGN4Y
(HGNC:15529)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
LBX2
(HGNC:15525)
|
atrial septal defect, ostium secundum type
(MONDO_0020434)
|
Strong
|
|
|
FAM167A
(HGNC:15549)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
CBX2
(HGNC:1552)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
CBX4
(HGNC:1554)
|
hepatocellular carcinoma
(MONDO_0007256)
|
Moderate
|
|
|
EPPK1
(HGNC:15577)
|
childhood acute lymphoblastic leukemia
(MONDO_0000870)
|
Limited
|
|
|
CBX7
(HGNC:1557)
|
plasma cell myeloma
(MONDO_0009693)
|
Strong
|
|
|
SYTL2
(HGNC:15585)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
SLC12A8
(HGNC:15595)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
B3GNT2
(HGNC:15629)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
RASSF9
(HGNC:15739)
|
familial colorectal cancer type X
(MONDO_0018604)
|
Disputed
|
|
|
KIRREL1
(HGNC:15734)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Strong
|
|
|
MYL9
(HGNC:15754)
|
visceral myopathy 1
(MONDO_0020754)
|
Limited
|
|
|
BPIFA1
(HGNC:15749)
|
nasopharyngeal carcinoma
(MONDO_0015459)
|
Strong
|
|
|
BPIFA1
(HGNC:15749)
|
lung cancer
(MONDO_0008903)
|
Limited
|
|
|
MYL9
(HGNC:15754)
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
(MONDO_0025986)
|
Strong
|
|
|
MOCS3
(HGNC:15765)
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency
(MONDO_0020480)
|
Strong
|
|
|
GZF1
(HGNC:15808)
|
Larsen syndrome
(MONDO_0007875)
|
Strong
|
|
|
TP53TG5
(HGNC:15856)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CCNF
(HGNC:1591)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
IFT52
(HGNC:15901)
|
cranioectodermal dysplasia
(MONDO_0009032)
|
Strong
|
|
|
IFT52
(HGNC:15901)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
SLC2A4RG
(HGNC:15930)
|
multiple sclerosis
(MONDO_0005301)
|
Strong
|
|
|
NDUFAF5
(HGNC:15899)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
WFDC2
(HGNC:15939)
|
ovarian carcinoma
(MONDO_0005140)
|
Limited
|
|
|
ZHX3
(HGNC:15935)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
IFT52
(HGNC:15901)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
L3MBTL1
(HGNC:15905)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Limited
|
|
|
TOE1
(HGNC:15954)
|
pontocerebellar hypoplasia type 7
(MONDO_0013993)
|
Strong
|
|
|
DAZ2
(HGNC:15964)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
SEZ6
(HGNC:15955)
|
childhood-onset schizophrenia
(MONDO_0957430)
|
Limited
|
|
|
SLC2A13
(HGNC:15956)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
TRIM2
(HGNC:15974)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
MPLKIP
(HGNC:16002)
|
trichothiodystrophy
(MONDO_0018053)
|
Strong
|
|
|
MOB1A
(HGNC:16015)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
TRIM63
(HGNC:16007)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
COLEC12
(HGNC:16016)
|
diabetic retinopathy
(MONDO_0005266)
|
Moderate
|
|
|
MED12L
(HGNC:16050)
|
uterine corpus leiomyoma
(MONDO_0007886)
|
Limited
|
|
|
PAK4
(HGNC:16059)
|
gastric cancer
(MONDO_0001056)
|
Moderate
|
|
|
ACER3
(HGNC:16066)
|
leukodystrophy
(MONDO_0019046)
|
Strong
|
|
|
MLLT10
(HGNC:16063)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
LIMS2
(HGNC:16084)
|
limb-girdle muscular dystrophy
(MONDO_0016971)
|
Moderate
|
|
|
STMN4
(HGNC:16078)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SFXN4
(HGNC:16088)
|
macrocytic anemia
(MONDO_0002281)
|
Limited
|
|
|
PGRMC1
(HGNC:16090)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
SFXN4
(HGNC:16088)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
BPIFB1
(HGNC:16108)
|
lung adenocarcinoma
(MONDO_0005061)
|
Limited
|
|
|
TBC1D20
(HGNC:16133)
|
Martsolf syndrome
(MONDO_0023910)
|
Strong
|
|
|
FITM2
(HGNC:16135)
|
deafness dystonia syndrome
(MONDO_0010578)
|
Strong
|
|
|
CABLES2
(HGNC:16143)
|
colorectal cancer
(MONDO_0005575)
|
Moderate
|
|
|
CRLS1
(HGNC:16148)
|
Leigh syndrome
(MONDO_0009723)
|
Disputed
|
|
|
SLC17A9
(HGNC:16192)
|
porokeratosis
(MONDO_0006602)
|
Limited
|
|
|
TRPC4AP
(HGNC:16181)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
DNAJC5
(HGNC:16235)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Strong
|
|
|
XCR1
(HGNC:1625)
|
COVID-19
(MONDO_0100096)
|
Strong
|
|
|
TGM6
(HGNC:16255)
|
spinocerebellar ataxia type 35
(MONDO_0013485)
|
Disputed
|
|
|
RAD21L1
(HGNC:16271)
|
azoospermia
(MONDO_0100459)
|
Strong
|
|
|
SYAP1
(HGNC:16273)
|
autism spectrum disorder
(MONDO_0005258)
|
Strong
|
|
|
GALNT17
(HGNC:16347)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
NSUN5
(HGNC:16385)
|
Williams syndrome
(MONDO_0008678)
|
Limited
|
|
|
GALNT17
(HGNC:16347)
|
Williams syndrome
(MONDO_0008678)
|
Limited
|
|
|
CARD6
(HGNC:16394)
|
primary myelofibrosis
(MONDO_0009692)
|
Limited
|
|
|
BUD23
(HGNC:16405)
|
Williams syndrome
(MONDO_0008678)
|
Limited
|
|
|
CGB5
(HGNC:16452)
|
habitual spontaneous abortion
(MONDO_0006774)
|
Strong
|
|
|
DNAJC30
(HGNC:16410)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Strong
|
|
|
CGB8
(HGNC:16453)
|
habitual spontaneous abortion
(MONDO_0006774)
|
Strong
|
|
|
ACAP1
(HGNC:16467)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
ADAP1
(HGNC:16486)
|
dementia
(MONDO_0001627)
|
Strong
|
|
|
ADAP1
(HGNC:16486)
|
Crohn disease
(MONDO_0005011)
|
Strong
|
|
|
ADAP1
(HGNC:16486)
|
cerebrovascular disorder
(MONDO_0011057)
|
Strong
|
|
|
ATG4A
(HGNC:16489)
|
Crohn disease
(MONDO_0005011)
|
Disputed
|
|
|
LCE3C
(HGNC:16612)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
PDLIM4
(HGNC:16501)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
LCE3D
(HGNC:16615)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
MRPS34
(HGNC:16618)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
SLMAP
(HGNC:16643)
|
Brugada syndrome
(MONDO_0015263)
|
Strong
|
|
|
MRPL44
(HGNC:16650)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
WDR17
(HGNC:16661)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
ANP32B
(HGNC:16677)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
EIF4ENIF1
(HGNC:16687)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
SLC17A7
(HGNC:16704)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
DHX34
(HGNC:16719)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Strong
|
|
|
CIZ1
(HGNC:16744)
|
benign essential blepharospasm
(MONDO_0011728)
|
Limited
|
|
|
CD3D
(HGNC:1673)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Strong
|
|
|
CIZ1
(HGNC:16744)
|
dystonic disorder
(MONDO_0003441)
|
Moderate
|
|
|
CD3E
(HGNC:1674)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Strong
|
|
|
SMG7
(HGNC:16792)
|
prostate cancer
(MONDO_0008315)
|
Moderate
|
|
|
WWP2
(HGNC:16804)
|
osteoarthritis, knee
(MONDO_0005416)
|
Moderate
|
|
|
ACTR1A
(HGNC:167)
|
malignant pleural mesothelioma
(MONDO_0005112)
|
Limited
|
|
|
PHOSPHO1
(HGNC:16815)
|
obesity disorder
(MONDO_0011122)
|
Limited
|
|
|
DACH2
(HGNC:16814)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
ESS2
(HGNC:16817)
|
DiGeorge syndrome
(MONDO_0008564)
|
Limited
|
|
|
ESS2
(HGNC:16817)
|
velocardiofacial syndrome
(MONDO_0008644)
|
Limited
|
|
|
NOP14
(HGNC:16821)
|
pancreatic ductal adenocarcinoma
(MONDO_0005184)
|
Moderate
|
|
|
CD47
(HGNC:1682)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
HCAR3
(HGNC:16824)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
SH2D3A
(HGNC:16885)
|
COVID-19
(MONDO_0100096)
|
Strong
|
|
|
CD96
(HGNC:16892)
|
C syndrome
(MONDO_0008893)
|
Limited
|
|
|
CD96
(HGNC:16892)
|
Bohring-Opitz syndrome
(MONDO_0011510)
|
Limited
|
|
|
CD59
(HGNC:1689)
|
paroxysmal nocturnal hemoglobinuria
(MONDO_0100244)
|
Strong
|
|
|
SPEG
(HGNC:16901)
|
centronuclear myopathy
(MONDO_0018947)
|
Strong
|
|
|
BCKDK
(HGNC:16902)
|
maple syrup urine disease
(MONDO_0009563)
|
Strong
|
|
|
EMG1
(HGNC:16912)
|
Bowen-Conradi syndrome
(MONDO_0008879)
|
Strong
|
|
|
STAMBP
(HGNC:16950)
|
microcephaly-capillary malformation syndrome
(MONDO_0013659)
|
Strong
|
|
|
SEC61B
(HGNC:16993)
|
autosomal dominant polycystic liver disease
(MONDO_0000447)
|
Strong
|
|
|
SEC61B
(HGNC:16993)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Limited
|
|
|
CEP43
(HGNC:17012)
|
primary myelofibrosis
(MONDO_0009692)
|
Limited
|
|
|
HSPH1
(HGNC:16969)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
HPS5
(HGNC:17022)
|
Hermansky-Pudlak syndrome
(MONDO_0019312)
|
Strong
|
|
|
COL21A1
(HGNC:17025)
|
hypertensive disorder
(MONDO_0005044)
|
Strong
|
|
|
PUF60
(HGNC:17042)
|
8q24.3 microdeletion syndrome
(MONDO_0014263)
|
Strong
|
|
|
SARM1
(HGNC:17074)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
SWAP70
(HGNC:17070)
|
rheumatoid arthritis
(MONDO_0008383)
|
Strong
|
|
|
GGA3
(HGNC:17079)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
TFIP11
(HGNC:17165)
|
dental caries
(MONDO_0005276)
|
Limited
|
|
|
IL26
(HGNC:17119)
|
multiple sclerosis
(MONDO_0005301)
|
Limited
|
|
|
ADAMTS17
(HGNC:17109)
|
Weill-Marchesani syndrome
(MONDO_0018096)
|
Strong
|
|
|
RAB3GAP2
(HGNC:17168)
|
Warburg micro syndrome
(MONDO_0016649)
|
Strong
|
|
|
ASB10
(HGNC:17185)
|
glaucoma
(MONDO_0005041)
|
Disputed
|
|
|
ASB10
(HGNC:17185)
|
open-angle glaucoma
(MONDO_0005338)
|
Disputed
|
|
|
RAB3GAP2
(HGNC:17168)
|
Martsolf syndrome
(MONDO_0023910)
|
Strong
|
|
|
OLFM1
(HGNC:17187)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
NDUFA13
(HGNC:17194)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
HELB
(HGNC:17196)
|
ovarian carcinoma
(MONDO_0005140)
|
Strong
|
|
|
STK36
(HGNC:17209)
|
Temple-Baraitser syndrome
(MONDO_0012735)
|
Limited
|
|
|
ELMO2
(HGNC:17233)
|
Ramon syndrome
(MONDO_0009954)
|
Limited
|
|
|
ABI3BP
(HGNC:17265)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
DHX38
(HGNC:17211)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
STK36
(HGNC:17209)
|
Zimmermann-Laband syndrome
(MONDO_0000200)
|
Limited
|
|
|
PASK
(HGNC:17270)
|
2q37 microdeletion syndrome
(MONDO_0010886)
|
Limited
|
|
|
IP6K2
(HGNC:17313)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
IL27RA
(HGNC:17290)
|
asthma
(MONDO_0004979)
|
Limited
|
|
|
RRAS2
(HGNC:17271)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
RXFP2
(HGNC:17318)
|
cryptorchidism
(MONDO_0009047)
|
Strong
|
|
|
AASS
(HGNC:17366)
|
hyperlysinemia
(MONDO_0009388)
|
Strong
|
|
|
NAGPA
(HGNC:17378)
|
stutter disorder
(MONDO_0000723)
|
Strong
|
|
|
APIP
(HGNC:17581)
|
cystic fibrosis
(MONDO_0009061)
|
Strong
|
|
|
FHL5
(HGNC:17371)
|
migraine disorder
(MONDO_0005277)
|
Strong
|
|
|
CHIA
(HGNC:17432)
|
asthma
(MONDO_0004979)
|
Strong
|
|
|
GMNN
(HGNC:17493)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Limited
|
|
|
TBRG4
(HGNC:17443)
|
plasma cell myeloma
(MONDO_0009693)
|
Strong
|
|
|
RANGRF
(HGNC:17679)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
ACBD7
(HGNC:17715)
|
anorexia nervosa
(MONDO_0005351)
|
Limited
|
|
|
STK38L
(HGNC:17848)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
STK38L
(HGNC:17848)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
BBC3
(HGNC:17868)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
ACY1
(HGNC:177)
|
aminoacylase 1 deficiency
(MONDO_0012368)
|
Strong
|
|
|
FHOD1
(HGNC:17905)
|
congenital hypotrichosis with juvenile macular dystrophy
(MONDO_0011107)
|
Limited
|
|
|
SLC45A1
(HGNC:17939)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
PSMC3IP
(HGNC:17928)
|
premature menopause
(MONDO_0001119)
|
Moderate
|
|
|
RDH11
(HGNC:17964)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
ROBO4
(HGNC:17985)
|
aortic valve disease 3
(MONDO_0032783)
|
Strong
|
|
|
B3GALT6
(HGNC:17978)
|
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
(MONDO_0010075)
|
Strong
|
|
|
NUDT11
(HGNC:18011)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
NUP133
(HGNC:18016)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Strong
|
|
|
NUP133
(HGNC:18016)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
NUP160
(HGNC:18017)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Strong
|
|
|
BMP2K
(HGNC:18041)
|
developmental dysplasia of the hip
(MONDO_0000158)
|
Strong
|
|
|
OSGEP
(HGNC:18028)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
ZFAND3
(HGNC:18019)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CDX1
(HGNC:1805)
|
mesenchymal chondrosarcoma
(MONDO_0006853)
|
Limited
|
|
|
SLC38A3
(HGNC:18044)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
AHSP
(HGNC:18075)
|
beta thalassemia
(MONDO_0019402)
|
Limited
|
|
|
TMEM199
(HGNC:18085)
|
TMEM199-CDG
(MONDO_0014790)
|
Strong
|
|
|
STYXL1
(HGNC:18165)
|
epilepsy
(MONDO_0005027)
|
Disputed
|
|
|
RNF115
(HGNC:18154)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
TMEM199
(HGNC:18085)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
TRPV3
(HGNC:18084)
|
Olmsted syndrome
(MONDO_0031421)
|
Strong
|
|
|
CD244
(HGNC:18171)
|
rheumatoid arthritis
(MONDO_0008383)
|
Limited
|
|
|
COQ3
(HGNC:18175)
|
multiple sclerosis
(MONDO_0005301)
|
Limited
|
|
|
TPCN1
(HGNC:18182)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
TRERF1
(HGNC:18273)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
TMLHE
(HGNC:18308)
|
autism spectrum disorder
(MONDO_0005258)
|
Strong
|
|
|
TMLHE
(HGNC:18308)
|
autism
(MONDO_0005260)
|
Moderate
|
|
|
PRIMA1
(HGNC:18319)
|
atherosclerosis
(MONDO_0005311)
|
Strong
|
|
|
DHRS2
(HGNC:18349)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
RAD18
(HGNC:18278)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
CENPM
(HGNC:18352)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
CEACAM8
(HGNC:1820)
|
essential thrombocythemia
(MONDO_0005029)
|
Limited
|
|
|
ACER1
(HGNC:18356)
|
Farber lipogranulomatosis
(MONDO_0009218)
|
Strong
|
|
|
CLYBL
(HGNC:18355)
|
vitamin B12 deficiency
(MONDO_0020696)
|
Strong
|
|
|
PADI1
(HGNC:18367)
|
periodontitis
(MONDO_0005076)
|
Limited
|
|
|
RAX2
(HGNC:18286)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Strong
|
|
|
AGMAT
(HGNC:18407)
|
3-methylglutaconic aciduria type 1
(MONDO_0009610)
|
Strong
|
|
|
IFNL2
(HGNC:18364)
|
hepatitis C virus infection
(MONDO_0005231)
|
Limited
|
|
|
SMARCAD1
(HGNC:18398)
|
absence of fingerprints-congenital milia syndrome
(MONDO_0007507)
|
Strong
|
|
|
HIP1R
(HGNC:18415)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
AGO3
(HGNC:18421)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
GRID2IP
(HGNC:18464)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
CECR2
(HGNC:1840)
|
cat-eye syndrome
(MONDO_0007276)
|
Limited
|
|
|
TFB2M
(HGNC:18559)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
PIWIL3
(HGNC:18443)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
SPART
(HGNC:18514)
|
Troyer syndrome
(MONDO_0010156)
|
Strong
|
|
|
FCRL1
(HGNC:18509)
|
EAST syndrome
(MONDO_0013005)
|
Limited
|
|
|
SPART
(HGNC:18514)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
CYS1
(HGNC:18525)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Strong
|
|
|
ZDHHC9
(HGNC:18475)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
CCNO
(HGNC:18576)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
LRRK1
(HGNC:18608)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
NEK9
(HGNC:18591)
|
nevus comedonicus syndrome
(MONDO_0014873)
|
Strong
|
|
|
LRRK1
(HGNC:18608)
|
osteosclerotic metaphyseal dysplasia
(MONDO_0014080)
|
Strong
|
|
|
MSI2
(HGNC:18585)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
FKBP14
(HGNC:18625)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Strong
|
|
|
BLOC1S5
(HGNC:18561)
|
Hermansky-Pudlak syndrome
(MONDO_0019312)
|
Strong
|
|
|
KMT2E
(HGNC:18541)
|
O'Donnell-Luria-Rodan syndrome
(MONDO_0032793)
|
Strong
|
|
|
CER1
(HGNC:1862)
|
osteoporosis
(MONDO_0005298)
|
Strong
|
|
|
SUGP2
(HGNC:18641)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Strong
|
|
|
ZBTB7B
(HGNC:18668)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
PALS1
(HGNC:18669)
|
COVID-19
(MONDO_0100096)
|
Limited
|
|
|
EIF4A3
(HGNC:18683)
|
Richieri Costa-Pereira syndrome
(MONDO_0009998)
|
Strong
|
|
|
DDX4
(HGNC:18700)
|
neuroblastoma
(MONDO_0005072)
|
Limited
|
|
|
NFXL1
(HGNC:18726)
|
specific language impairment
(MONDO_0000724)
|
Moderate
|
|
|
SLURP1
(HGNC:18746)
|
mal de Meleda
(MONDO_0009552)
|
Strong
|
|
|
CRB2
(HGNC:18688)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Strong
|
|
|
CFL2
(HGNC:1875)
|
myofibrillar myopathy
(MONDO_0018943)
|
Limited
|
|
|
RIN2
(HGNC:18750)
|
RIN2 syndrome
(MONDO_0013115)
|
Strong
|
|
|
KLHL10
(HGNC:18829)
|
male infertility
(MONDO_0005372)
|
Moderate
|
|
|
CREB3L4
(HGNC:18854)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
CREB3L1
(HGNC:18856)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Strong
|
|
|
KCNRG
(HGNC:18893)
|
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
|
Limited
|
|
|
PIGM
(HGNC:18858)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
TAS2R31
(HGNC:19113)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SLCO5A1
(HGNC:19046)
|
mesomelia-synostoses syndrome
(MONDO_0010881)
|
Strong
|
|
|
S100A14
(HGNC:18901)
|
esophageal squamous cell carcinoma
(MONDO_0005580)
|
Strong
|
|
|
CORIN
(HGNC:19012)
|
hypertensive disorder
(MONDO_0005044)
|
Strong
|
|
|
ADGRF1
(HGNC:18990)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
TTBK1
(HGNC:19140)
|
childhood-onset schizophrenia
(MONDO_0957430)
|
Limited
|
|
|
CHD1
(HGNC:1915)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
TTBK2
(HGNC:19141)
|
spinocerebellar ataxia type 11
(MONDO_0011464)
|
Strong
|
|
|
CMTM7
(HGNC:19178)
|
Mayer-Rokitansky-Kuster-Hauser syndrome
(MONDO_0017771)
|
Limited
|
|
|
SASH1
(HGNC:19182)
|
dyschromatosis universalis hereditaria
(MONDO_0000736)
|
Strong
|
|
|
WSB1
(HGNC:19221)
|
COVID-19
(MONDO_0100096)
|
Moderate
|
|
|
UBE2Q2
(HGNC:19248)
|
chronic kidney disease
(MONDO_0005300)
|
Strong
|
|
|
SYT9
(HGNC:19265)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
PPP6R2
(HGNC:19253)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
SLC30A7
(HGNC:19306)
|
Joubert syndrome
(MONDO_0018772)
|
Limited
|
|
|
DENND5A
(HGNC:19344)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
BET1L
(HGNC:19348)
|
uterine corpus leiomyoma
(MONDO_0007886)
|
Strong
|
|
|
CHI3L2
(HGNC:1933)
|
pancreatic ductal adenocarcinoma
(MONDO_0005184)
|
Strong
|
|
|
MDGA1
(HGNC:19267)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
SIN3A
(HGNC:19353)
|
SIN3A-related intellectual disability syndrome due to a point mutation
(MONDO_0044700)
|
Strong
|
|
|
PIM3
(HGNC:19310)
|
Phelan-McDermid syndrome
(MONDO_0011652)
|
Limited
|
|
|
SIN3B
(HGNC:19354)
|
esthesioneuroblastoma
(MONDO_0016029)
|
Limited
|
|
|
TP53I3
(HGNC:19373)
|
ovarian cancer
(MONDO_0008170)
|
Moderate
|
|
|
ALG12
(HGNC:19358)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
DPY19L2
(HGNC:19414)
|
spermatogenic failure 6
(MONDO_0007060)
|
Strong
|
|
|
ALG12
(HGNC:19358)
|
ALG12-congenital disorder of glycosylation
(MONDO_0011783)
|
Strong
|
|
|
CHRM5
(HGNC:1954)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Limited
|
|
|
CHN1
(HGNC:1943)
|
Duane retraction syndrome
(MONDO_0007473)
|
Strong
|
|
|
TNNI3K
(HGNC:19661)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
GPBAR1
(HGNC:19680)
|
ulcerative colitis
(MONDO_0005101)
|
Strong
|
|
|
CHRM5
(HGNC:1954)
|
cauda equina syndrome with neurogenic bladder
(MONDO_0020767)
|
Limited
|
|
|
UHMK1
(HGNC:19683)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
GPBAR1
(HGNC:19680)
|
primary sclerosing cholangitis
(MONDO_0013433)
|
Strong
|
|
|
RD3
(HGNC:19689)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
FGFBP1
(HGNC:19695)
|
hypertensive disorder
(MONDO_0005044)
|
Strong
|
|
|
STXBP4
(HGNC:19694)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
FNBP4
(HGNC:19752)
|
microphthalmia with limb anomalies
(MONDO_0008800)
|
Limited
|
|
|
CIDEA
(HGNC:1976)
|
obesity disorder
(MONDO_0011122)
|
Strong
|
|
|
CANT1
(HGNC:19721)
|
Desbuquois dysplasia
(MONDO_0015426)
|
Strong
|
|
|
CIDEB
(HGNC:1977)
|
cirrhosis of liver
(MONDO_0005155)
|
Strong
|
|
|
CIDEB
(HGNC:1977)
|
metabolic dysfunction-associated steatotic liver disease
(MONDO_0013209)
|
Moderate
|
|
|
TSSK4
(HGNC:19825)
|
male infertility
(MONDO_0005372)
|
Moderate
|
|
|
UTP4
(HGNC:1983)
|
hereditary North American Indian childhood cirrhosis
(MONDO_0011497)
|
Strong
|
|
|
EPB41L4B
(HGNC:19818)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
TC2N
(HGNC:19859)
|
von Willebrand disease (hereditary or acquired)
(MONDO_0024574)
|
Limited
|
|
|
POU2F3
(HGNC:19864)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
GBP5
(HGNC:19895)
|
ovarian cancer
(MONDO_0008170)
|
Limited
|
|
|
MMRN2
(HGNC:19888)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
SCARF2
(HGNC:19869)
|
van den Ende-Gupta syndrome
(MONDO_0010959)
|
Strong
|
|
|
MYORG
(HGNC:19918)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Strong
|
|
|
PLSCR5
(HGNC:19952)
|
bipolar disorder
(MONDO_0004985)
|
Limited
|
|
|
ADAM20
(HGNC:199)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
USP36
(HGNC:20062)
|
premature menopause
(MONDO_0001119)
|
Moderate
|
|
|
USP46
(HGNC:20075)
|
essential tremor
(MONDO_0003233)
|
Limited
|
|
|
ZNF408
(HGNC:20041)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Strong
|
|
|
CHURC1
(HGNC:20099)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
FLVCR2
(HGNC:20105)
|
Fowler syndrome
(MONDO_0009168)
|
Strong
|
|
|
TEDC1
(HGNC:20127)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
ABHD4
(HGNC:20154)
|
anorexia nervosa
(MONDO_0005351)
|
Limited
|
|
|
ASPG
(HGNC:20123)
|
aspartylglucosaminuria
(MONDO_0008830)
|
Strong
|
|
|
INTS13
(HGNC:20174)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
NRDE2
(HGNC:20186)
|
hepatocellular carcinoma
(MONDO_0007256)
|
Strong
|
|
|
INTS13
(HGNC:20174)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
DNAAF2
(HGNC:20188)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CLCA4
(HGNC:2018)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
VRTN
(HGNC:20223)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
KIF26A
(HGNC:20226)
|
Hirschsprung disease
(MONDO_0018309)
|
Strong
|
|
|
AJUBA
(HGNC:20250)
|
esophageal squamous cell carcinoma
(MONDO_0005580)
|
Strong
|
|
|
SFMBT1
(HGNC:20255)
|
Poland syndrome
(MONDO_0008262)
|
Limited
|
|
|
SFMBT1
(HGNC:20255)
|
colorectal cancer
(MONDO_0005575)
|
Moderate
|
|
|
LRRC10
(HGNC:20264)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
SFMBT1
(HGNC:20255)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
ALG5
(HGNC:20266)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Strong
|
|
|
CHAMP1
(HGNC:20311)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
TGDS
(HGNC:20324)
|
Catel-Manzke syndrome
(MONDO_0014507)
|
Strong
|
|
|
UBR7
(HGNC:20344)
|
Li-Campeau syndrome
(MONDO_0030963)
|
Strong
|
|
|
LRFN5
(HGNC:20360)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
SMOC1
(HGNC:20318)
|
microphthalmia with limb anomalies
(MONDO_0008800)
|
Strong
|
|
|
SPTSSA
(HGNC:20361)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
PLEKHG3
(HGNC:20364)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
LRFN5
(HGNC:20360)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SQOR
(HGNC:20390)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
SPG21
(HGNC:20373)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
PILRA
(HGNC:20396)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
SPG21
(HGNC:20373)
|
mast syndrome
(MONDO_0009568)
|
Strong
|
|
|
ZIC4
(HGNC:20393)
|
Dandy-Walker syndrome
(MONDO_0009072)
|
Limited
|
|
|
MBIP
(HGNC:20427)
|
thyroid gland papillary carcinoma
(MONDO_0005075)
|
Moderate
|
|
|
TREML1
(HGNC:20434)
|
Alzheimer disease
(MONDO_0004975)
|
Limited
|
|
|
CLDN18
(HGNC:2039)
|
colorectal cancer
(MONDO_0005575)
|
Moderate
|
|
|
RNF144A
(HGNC:20457)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
CLDN5
(HGNC:2047)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
NME7
(HGNC:20461)
|
venous thromboembolism
(MONDO_0005399)
|
Strong
|
|
|
LSM7
(HGNC:20470)
|
leukodystrophy
(MONDO_0019046)
|
Strong
|
|
|
CATSPERB
(HGNC:20500)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
LSM1
(HGNC:20472)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
TAS2R60
(HGNC:20639)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
RAPGEF6
(HGNC:20655)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
CLEC5A
(HGNC:2054)
|
Crohn disease
(MONDO_0005011)
|
Limited
|
|
|
TSPAN1
(HGNC:20657)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
RAPGEF6
(HGNC:20655)
|
malignant pleural mesothelioma
(MONDO_0005112)
|
Moderate
|
|
|
SCN3B
(HGNC:20665)
|
Brugada syndrome
(MONDO_0015263)
|
Strong
|
|
|
TWIST2
(HGNC:20670)
|
Barber-Say syndrome
(MONDO_0008853)
|
Strong
|
|
|
TWIST2
(HGNC:20670)
|
focal facial dermal dysplasia type III
(MONDO_0009203)
|
Strong
|
|
|
ZBED3
(HGNC:20711)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
ELP3
(HGNC:20696)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
SCFD1
(HGNC:20726)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
GNB4
(HGNC:20731)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
ARMC9
(HGNC:20730)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
CLPP
(HGNC:2084)
|
Perrault syndrome
(MONDO_0017312)
|
Strong
|
|
|
ANKFY1
(HGNC:20763)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Moderate
|
|
|
FNBP1L
(HGNC:20851)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
LRIG2
(HGNC:20889)
|
Ochoa syndrome
(MONDO_0000463)
|
Strong
|
|
|
ADAM30
(HGNC:208)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
DZIP1
(HGNC:20908)
|
mitral valve prolapse
(MONDO_0004910)
|
Strong
|
|
|
BLOC1S3
(HGNC:20914)
|
Hermansky-Pudlak syndrome
(MONDO_0019312)
|
Strong
|
|
|
PHACTR2
(HGNC:20956)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
ADGRL3
(HGNC:20974)
|
attention deficit-hyperactivity disorder
(MONDO_0007743)
|
Strong
|
|
|
CMA1
(HGNC:2097)
|
atopic eczema
(MONDO_0004980)
|
Moderate
|
|
|
ZMYND15
(HGNC:20997)
|
azoospermia
(MONDO_0100459)
|
Strong
|
|
|
CPO
(HGNC:21011)
|
hereditary coproporphyria
(MONDO_0007369)
|
Strong
|
|
|
ARHGAP15
(HGNC:21030)
|
diverticulitis
(MONDO_0004235)
|
Strong
|
|
|
ARHGAP18
(HGNC:21035)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
RSPH3
(HGNC:21054)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
NDUFAF4
(HGNC:21034)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MOXD1
(HGNC:21063)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Limited
|
|
|
TBC1D7
(HGNC:21066)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
RSPH3
(HGNC:21054)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
NCOA7
(HGNC:21081)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
SFT2D1
(HGNC:21102)
|
exocrine pancreatic carcinoma
(MONDO_0005192)
|
Moderate
|
|
|
TBC1D7
(HGNC:21066)
|
megalencephaly
(MONDO_0016608)
|
Strong
|
|
|
FAM120B
(HGNC:21109)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Refuted
|
|
|
CEP162
(HGNC:21107)
|
diabetic retinopathy
(MONDO_0005266)
|
Moderate
|
|
|
RNF125
(HGNC:21150)
|
Tenorio syndrome
(MONDO_0014553)
|
Strong
|
|
|
ARFGEF3
(HGNC:21213)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
GTF2H5
(HGNC:21157)
|
trichothiodystrophy
(MONDO_0018053)
|
Strong
|
|
|
RHOT2
(HGNC:21169)
|
Parkinson disease
(MONDO_0005180)
|
Disputed
|
|
|
DNPH1
(HGNC:21218)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
ADTRP
(HGNC:21214)
|
coronary artery disorder
(MONDO_0005010)
|
Strong
|
|
|
CILK1
(HGNC:21219)
|
endocrine-cerebro-osteodysplasia syndrome
(MONDO_0012980)
|
Strong
|
|
|
CILK1
(HGNC:21219)
|
juvenile myoclonic epilepsy
(MONDO_0009696)
|
Strong
|
|
|
HMCN2
(HGNC:21293)
|
periodontitis
(MONDO_0005076)
|
Strong
|
|
|
ADPRHL1
(HGNC:21303)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
EPS8L3
(HGNC:21297)
|
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
|
Disputed
|
|
|
SKOR1
(HGNC:21326)
|
restless legs syndrome
(MONDO_0005391)
|
Strong
|
|
|
RNF146
(HGNC:21336)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
SLAMF6
(HGNC:21392)
|
Graves disease
(MONDO_0005364)
|
Strong
|
|
|
OGFRL1
(HGNC:21378)
|
cherubism
(MONDO_0007315)
|
Limited
|
|
|
ECHDC1
(HGNC:21489)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
SLAMF6
(HGNC:21392)
|
rheumatoid arthritis
(MONDO_0008383)
|
Strong
|
|
|
CNGA2
(HGNC:2149)
|
isolated congenital anosmia
(MONDO_0007137)
|
Strong
|
|
|
CNGA1
(HGNC:2148)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
TSPYL4
(HGNC:21559)
|
Dravet syndrome
(MONDO_0100135)
|
Limited
|
|
|
THEMIS
(HGNC:21569)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
THEMIS
(HGNC:21569)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Strong
|
|
|
NKAPL
(HGNC:21584)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
AIG1
(HGNC:21607)
|
osteoarthritis
(MONDO_0005178)
|
Limited
|
|
|
THEMIS
(HGNC:21569)
|
rheumatoid arthritis
(MONDO_0008383)
|
Strong
|
|
|
LUC7L2
(HGNC:21608)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Strong
|
|
|
LNPK
(HGNC:21610)
|
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
(MONDO_0060761)
|
Limited
|
|
|
LNPK
(HGNC:21610)
|
hepatic veno-occlusive disease
(MONDO_0019514)
|
Limited
|
|
|
CEP85L
(HGNC:21638)
|
lissencephaly spectrum disorders
(MONDO_0018838)
|
Strong
|
|
|
ZNF460
(HGNC:21628)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
OSTM1
(HGNC:21652)
|
autosomal recessive osteopetrosis
(MONDO_0019026)
|
Strong
|
|
|
ZNF462
(HGNC:21684)
|
metopic ridging-ptosis-facial dysmorphism syndrome
(MONDO_0044715)
|
Strong
|
|
|
IFNK
(HGNC:21714)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
LHX6
(HGNC:21735)
|
Tourette syndrome
(MONDO_0007661)
|
Moderate
|
|
|
RNF216
(HGNC:21698)
|
cerebellar ataxia-hypogonadism syndrome
(MONDO_0008935)
|
Strong
|
|
|
RBM28
(HGNC:21863)
|
ANE syndrome
(MONDO_0012794)
|
Strong
|
|
|
FBXL18
(HGNC:21874)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
IQUB
(HGNC:21995)
|
bipolar disorder
(MONDO_0004985)
|
Limited
|
|
|
SCRN1
(HGNC:22192)
|
gastric cancer
(MONDO_0001056)
|
Strong
|
|
|
AGK
(HGNC:21869)
|
Sengers syndrome
(MONDO_0008922)
|
Strong
|
|
|
AP5Z1
(HGNC:22197)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
KCTD13
(HGNC:22234)
|
hypospadias
(MONDO_0005345)
|
Strong
|
|
|
VMA21
(HGNC:22082)
|
X-linked myopathy with excessive autophagy
(MONDO_0010684)
|
Strong
|
|
|
C7orf50
(HGNC:22421)
|
age-related macular degeneration
(MONDO_0005150)
|
Limited
|
|
|
COPB2
(HGNC:2232)
|
blepharophimosis, ptosis, and epicanthus inversus syndrome
(MONDO_0007201)
|
Limited
|
|
|
COX17
(HGNC:2264)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
COPA
(HGNC:2230)
|
autoimmune interstitial lung disease-arthritis syndrome
(MONDO_0014629)
|
Strong
|
|
|
COX6A1
(HGNC:2277)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Moderate
|
|
|
FEZF1
(HGNC:22788)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
COX6A2
(HGNC:2279)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Strong
|
|
|
COX6B1
(HGNC:2280)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Strong
|
|
|
SLC25A2
(HGNC:22921)
|
gastric cancer
(MONDO_0001056)
|
Limited
|
|
|
GPR155
(HGNC:22951)
|
lung cancer
(MONDO_0008903)
|
Moderate
|
|
|
DEPTOR
(HGNC:22953)
|
lung cancer
(MONDO_0008903)
|
Limited
|
|
|
PEX26
(HGNC:22965)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
TMC4
(HGNC:22998)
|
metabolic dysfunction-associated steatotic liver disease
(MONDO_0013209)
|
Disputed
|
|
|
CPB1
(HGNC:2299)
|
pancreatic ductal adenocarcinoma
(MONDO_0005184)
|
Strong
|
|
|
ARMC2
(HGNC:23045)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
TM7SF3
(HGNC:23049)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
TM7SF3
(HGNC:23049)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
ALG3
(HGNC:23056)
|
ALG3-congenital disorder of glycosylation
(MONDO_0010998)
|
Strong
|
|
|
BRK1
(HGNC:23057)
|
von Hippel-Lindau disease
(MONDO_0008667)
|
Strong
|
|
|
ALG3
(HGNC:23056)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
TRAPPC6B
(HGNC:23066)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
TRAPPC2
(HGNC:23068)
|
spondyloepiphyseal dysplasia tarda, X-linked
(MONDO_0010737)
|
Definitive
|
|
|
ARHGAP33
(HGNC:23085)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
SLC29A4
(HGNC:23097)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
RNF150
(HGNC:23138)
|
chronic obstructive pulmonary disease
(MONDO_0005002)
|
Limited
|
|
|
TRMT5
(HGNC:23141)
|
combined oxidative phosphorylation defect type 26
(MONDO_0014684)
|
Limited
|
|
|
TRMT5
(HGNC:23141)
|
congestive splenomegaly
(MONDO_0037251)
|
Limited
|
|
|
U2AF2
(HGNC:23156)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
CLINT1
(HGNC:23186)
|
schizophrenia
(MONDO_0005090)
|
Disputed
|
|
|
FERMT3
(HGNC:23151)
|
leukocyte adhesion deficiency 3
(MONDO_0013016)
|
Strong
|
|
|
CPNE6
(HGNC:2319)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
GKN1
(HGNC:23217)
|
lung cancer
(MONDO_0008903)
|
Limited
|
|
|
TSPAN15
(HGNC:23298)
|
venous thromboembolism
(MONDO_0005399)
|
Strong
|
|
|
CPOX
(HGNC:2321)
|
hereditary coproporphyria
(MONDO_0007369)
|
Strong
|
|
|
TSPAN14
(HGNC:23303)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
ACBD6
(HGNC:23339)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
CPZ
(HGNC:2333)
|
neuroblastoma
(MONDO_0005072)
|
Strong
|
|
|
PIBF1
(HGNC:23352)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
DOLK
(HGNC:23406)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
KIFBP
(HGNC:23419)
|
Goldberg-Shprintzen syndrome
(MONDO_0012280)
|
Strong
|
|
|
LIPN
(HGNC:23452)
|
autosomal recessive congenital ichthyosis
(MONDO_0017265)
|
Limited
|
|
|
CRAT
(HGNC:2342)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
CALHM2
(HGNC:23493)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
ECHDC3
(HGNC:23489)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
SLITRK4
(HGNC:23502)
|
age-related macular degeneration
(MONDO_0005150)
|
Strong
|
|
|
STOX1
(HGNC:23508)
|
preeclampsia
(MONDO_0005081)
|
Strong
|
|
|
PYROXD2
(HGNC:23517)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
TUBAL3
(HGNC:23534)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
SLCO4C1
(HGNC:23612)
|
melanoma
(MONDO_0005105)
|
Limited
|
|
|
GLT6D1
(HGNC:23671)
|
acute pericementitis
(MONDO_0001028)
|
Strong
|
|
|
PLGRKT
(HGNC:23633)
|
polycystic ovary syndrome
(MONDO_0008487)
|
Moderate
|
|
|
GLT6D1
(HGNC:23671)
|
periodontitis
(MONDO_0005076)
|
Limited
|
|
|
MAMDC2
(HGNC:23673)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ERMP1
(HGNC:23703)
|
keratoconus
(MONDO_0015486)
|
Limited
|
|
|
BCL9L
(HGNC:23688)
|
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
|
Moderate
|
|
|
ARHGAP21
(HGNC:23725)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
PTF1A
(HGNC:23734)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Strong
|
|
|
CERS5
(HGNC:23749)
|
hypertensive disorder
(MONDO_0005044)
|
Strong
|
|
|
PLD4
(HGNC:23792)
|
systemic sclerosis
(MONDO_0005100)
|
Strong
|
|
|
PLD4
(HGNC:23792)
|
primary biliary cholangitis
(MONDO_0005388)
|
Strong
|
|
|
MOB3B
(HGNC:23825)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
NDUFA12
(HGNC:23987)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NOC3L
(HGNC:24034)
|
gastric cancer
(MONDO_0001056)
|
Strong
|
|
|
CREBRF
(HGNC:24050)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CREBRF
(HGNC:24050)
|
obesity disorder
(MONDO_0011122)
|
Strong
|
|
|
TOR1AIP2
(HGNC:24055)
|
dystonic disorder
(MONDO_0003441)
|
Limited
|
|
|
TOR1AIP2
(HGNC:24055)
|
early-onset generalized limb-onset dystonia
(MONDO_0007492)
|
Moderate
|
|
|
ROPN1L
(HGNC:24060)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
ANGPTL7
(HGNC:24078)
|
glaucoma
(MONDO_0005041)
|
Strong
|
|
|
ARAP3
(HGNC:24097)
|
lymphatic malformation
(MONDO_0019313)
|
Moderate
|
|
|
ATP13A3
(HGNC:24113)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Strong
|
|
|
MGAT5B
(HGNC:24140)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
WWC2
(HGNC:24148)
|
restless legs syndrome
(MONDO_0005391)
|
Limited
|
|
|
BMPER
(HGNC:24154)
|
diaphanospondylodysostosis
(MONDO_0011946)
|
Strong
|
|
|
CEBPZ
(HGNC:24218)
|
acute myeloid leukemia
(MONDO_0018874)
|
Limited
|
|
|
PHF21A
(HGNC:24156)
|
Potocki-Shaffer syndrome
(MONDO_0011022)
|
Strong
|
|
|
CD200R1
(HGNC:24235)
|
atopic eczema
(MONDO_0004980)
|
Strong
|
|
|
DRC1
(HGNC:24245)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
NMD3
(HGNC:24250)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
NCAPD2
(HGNC:24305)
|
Alzheimer disease
(MONDO_0004975)
|
Limited
|
|
|
CCDC68
(HGNC:24350)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
CSH1
(HGNC:2440)
|
Cockayne syndrome
(MONDO_0016006)
|
Strong
|
|
|
DNER
(HGNC:24456)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CNDP2
(HGNC:24437)
|
diabetic kidney disease
(MONDO_0005016)
|
Strong
|
|
|
DCANP1
(HGNC:24459)
|
major depressive disorder
(MONDO_0002009)
|
Disputed
|
|
|
CHST14
(HGNC:24464)
|
Ehlers-Danlos syndrome, musculocontractural type
(MONDO_0011142)
|
Strong
|
|
|
POC1A
(HGNC:24488)
|
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
(MONDO_0013894)
|
Strong
|
|
|
ARHGEF26
(HGNC:24490)
|
coronary artery disorder
(MONDO_0005010)
|
Strong
|
|
|
NEPRO
(HGNC:24496)
|
cartilage-hair hypoplasia
(MONDO_0009595)
|
Moderate
|
|
|
NEPRO
(HGNC:24496)
|
anauxetic dysplasia
(MONDO_0011773)
|
Strong
|
|
|
NEPRO
(HGNC:24496)
|
anauxetic dysplasia 1
(MONDO_0054560)
|
Moderate
|
|
|
MPC2
(HGNC:24515)
|
bipolar disorder
(MONDO_0004985)
|
Moderate
|
|
|
MPC2
(HGNC:24515)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
TMEM98
(HGNC:24529)
|
nanophthalmia
(MONDO_0005514)
|
Strong
|
|
|
DCAF13
(HGNC:24535)
|
neuromuscular disease
(MONDO_0019056)
|
Strong
|
|
|
GINS2
(HGNC:24575)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
RPAP1
(HGNC:24567)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
CSNK2A2
(HGNC:2459)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CXXC4
(HGNC:24593)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Strong
|
|
|
DNAJC10
(HGNC:24637)
|
Parkinson disease
(MONDO_0005180)
|
Moderate
|
|
|
FIGLA
(HGNC:24669)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
GPATCH1
(HGNC:24658)
|
osteoporosis
(MONDO_0005298)
|
Strong
|
|
|
VWA2
(HGNC:24709)
|
chronic kidney disease
(MONDO_0005300)
|
Limited
|
|
|
DCBLD2
(HGNC:24627)
|
relapsing polychondritis
(MONDO_0019125)
|
Moderate
|
|
|
FBLP1
(HGNC:24686)
|
chronic recurrent multifocal osteomyelitis
(MONDO_0009813)
|
Limited
|
|
|
CIBAR2
(HGNC:24781)
|
Crohn disease
(MONDO_0005011)
|
Disputed
|
|
|
PTCD3
(HGNC:24717)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
KLRG2
(HGNC:24778)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
LONRF2
(HGNC:24788)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
GPRASP1
(HGNC:24834)
|
arteriovenous hemangioma/malformation
(MONDO_0001256)
|
Strong
|
|
|
VWA2
(HGNC:24709)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Limited
|
|
|
CIBAR2
(HGNC:24781)
|
ulcerative colitis
(MONDO_0005101)
|
Limited
|
|
|
FN3K
(HGNC:24822)
|
diabetes mellitus
(MONDO_0005015)
|
Limited
|
|
|
ENHO
(HGNC:24838)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CEP104
(HGNC:24866)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
CCDC91
(HGNC:24855)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
MOGS
(HGNC:24862)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Moderate
|
|
|
YIPF5
(HGNC:24877)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Strong
|
|
|
PNPLA4
(HGNC:24887)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
CCDC47
(HGNC:24856)
|
trichohepatoneurodevelopmental syndrome
(MONDO_0032645)
|
Strong
|
|
|
OTUD4
(HGNC:24949)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
LARP7
(HGNC:24912)
|
microcephalic primordial dwarfism, Alazami type
(MONDO_0014031)
|
Strong
|
|
|
STBD1
(HGNC:24854)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
ZC4H2
(HGNC:24931)
|
Wieacker-Wolff syndrome
(MONDO_0010758)
|
Strong
|
|
|
GSX2
(HGNC:24959)
|
diencephalic-mesencephalic junction dysplasia
(MONDO_0017868)
|
Strong
|
|
|
OTUD4
(HGNC:24949)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
HS1BP3
(HGNC:24979)
|
essential tremor
(MONDO_0003233)
|
Disputed
|
|
|
HS1BP3
(HGNC:24979)
|
Parkinson disease
(MONDO_0005180)
|
Disputed
|
|
|
EIF2AK1
(HGNC:24921)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
HS1BP3
(HGNC:24979)
|
benign essential blepharospasm
(MONDO_0011728)
|
Limited
|
|
|
CFAP263
(HGNC:25002)
|
systemic sclerosis
(MONDO_0005100)
|
Strong
|
|
|
CFAP263
(HGNC:25002)
|
primary biliary cholangitis
(MONDO_0005388)
|
Strong
|
|
|
UBE2T
(HGNC:25009)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
ASTE1
(HGNC:25021)
|
Lynch syndrome
(MONDO_0005835)
|
Strong
|
|
|
METTL5
(HGNC:25006)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
SPICE1
(HGNC:25083)
|
sarcoidosis
(MONDO_0019338)
|
Limited
|
|
|
SGO1
(HGNC:25088)
|
gastric cancer
(MONDO_0001056)
|
Strong
|
|
|
AP5B1
(HGNC:25104)
|
sarcoidosis
(MONDO_0019338)
|
Limited
|
|
|
OTULIN
(HGNC:25118)
|
infantile-onset periodic fever-panniculitis-dermatosis syndrome
(MONDO_0014912)
|
Strong
|
|
|
LRSAM1
(HGNC:25135)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
GPRASP2
(HGNC:25169)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
SPATA17
(HGNC:25184)
|
male infertility
(MONDO_0005372)
|
Limited
|
|
|
TMEM240
(HGNC:25186)
|
spinocerebellar ataxia type 21
(MONDO_0011833)
|
Strong
|
|
|
SGSM3
(HGNC:25228)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
ANO6
(HGNC:25240)
|
Scott syndrome
(MONDO_0009885)
|
Strong
|
|
|
FBXL19
(HGNC:25300)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
ANO6
(HGNC:25240)
|
ankylosing spondylitis
(MONDO_0005306)
|
Moderate
|
|
|
SHARPIN
(HGNC:25321)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
NRK
(HGNC:25391)
|
Sotos syndrome
(MONDO_0019349)
|
Limited
|
|
|
FBXL19
(HGNC:25300)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
PIANP
(HGNC:25338)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
TMTC2
(HGNC:25440)
|
OPTN-related open angle glaucoma
(MONDO_0100553)
|
Disputed
|
|
|
RAB40AL
(HGNC:25410)
|
deafness-intellectual disability, Martin-Probst type syndrome
(MONDO_0010353)
|
Disputed
|
|
|
TMTC2
(HGNC:25440)
|
sensorineural hearing loss disorder
(MONDO_0020678)
|
Strong
|
|
|
SAMD7
(HGNC:25394)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
FAR2
(HGNC:25531)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
PUS3
(HGNC:25461)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
MTPAP
(HGNC:25532)
|
spastic ataxia
(MONDO_0017845)
|
Strong
|
|
|
FAR2
(HGNC:25531)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
ENOX1
(HGNC:25474)
|
myasthenia gravis
(MONDO_0009688)
|
Moderate
|
|
|
TSR1
(HGNC:25542)
|
idiopathic spontaneous coronary artery dissection
(MONDO_0007385)
|
Strong
|
|
|
SLFN12
(HGNC:25500)
|
Sezary syndrome
(MONDO_0017844)
|
Limited
|
|
|
RFWD3
(HGNC:25539)
|
Fanconi anemia
(MONDO_0019391)
|
Moderate
|
|
|
CUL4B
(HGNC:2555)
|
X-linked intellectual disability, Cabezas type
(MONDO_0010306)
|
Strong
|
|
|
MSL2
(HGNC:25544)
|
autism spectrum disorder
(MONDO_0005258)
|
Strong
|
|
|
MSL2
(HGNC:25544)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
CUL4B
(HGNC:2555)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
SMG8
(HGNC:25551)
|
Alzahrani-Kuwahara syndrome
(MONDO_0859136)
|
Strong
|
|
|
OGFOD1
(HGNC:25585)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
TMEM39A
(HGNC:25600)
|
multiple sclerosis
(MONDO_0005301)
|
Strong
|
|
|
ATAD3A
(HGNC:25567)
|
Harel-Yoon syndrome
(MONDO_0014958)
|
Strong
|
|
|
ACOXL
(HGNC:25621)
|
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
|
Strong
|
|
|
WDR33
(HGNC:25651)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
GORAB
(HGNC:25676)
|
geroderma osteodysplastica
(MONDO_0009271)
|
Strong
|
|
|
KCTD17
(HGNC:25705)
|
myoclonic dystonia 11
(MONDO_0008044)
|
Strong
|
|
|
FN3KRP
(HGNC:25700)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
LAS1L
(HGNC:25726)
|
autosomal recessive distal spinal muscular atrophy 1
(MONDO_0011436)
|
Strong
|
|
|
LAS1L
(HGNC:25726)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
MUL1
(HGNC:25762)
|
Parkinson disease
(MONDO_0005180)
|
Moderate
|
|
|
TCTN2
(HGNC:25774)
|
Meckel syndrome, type 1
(MONDO_0009571)
|
Strong
|
|
|
SMG9
(HGNC:25763)
|
heart and brain malformation syndrome
(MONDO_0014833)
|
Strong
|
|
|
TCTN2
(HGNC:25774)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
MTHFSD
(HGNC:25778)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
USB1
(HGNC:25792)
|
poikiloderma with neutropenia
(MONDO_0011405)
|
Strong
|
|
|
USB1
(HGNC:25792)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
SRD5A3
(HGNC:25812)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
CEP63
(HGNC:25815)
|
Seckel syndrome
(MONDO_0019342)
|
Strong
|
|
|
SYDE2
(HGNC:25841)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
NAA60
(HGNC:25875)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Strong
|
|
|
FAM136A
(HGNC:25911)
|
Meniere disease
(MONDO_0007972)
|
Moderate
|
|
|
WDR73
(HGNC:25928)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
DEF8
(HGNC:25969)
|
skin squamous cell carcinoma
(MONDO_0002529)
|
Strong
|
|
|
DEF8
(HGNC:25969)
|
melanoma
(MONDO_0005105)
|
Strong
|
|
|
RNF186
(HGNC:25978)
|
ulcerative colitis
(MONDO_0005101)
|
Strong
|
|
|
PIGG
(HGNC:25985)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
PIGG
(HGNC:25985)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
LAX1
(HGNC:26005)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
LAX1
(HGNC:26005)
|
rheumatoid arthritis
(MONDO_0008383)
|
Strong
|
|
|
SPDL1
(HGNC:26010)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
SYBU
(HGNC:26011)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
KRBOX4
(HGNC:26007)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
LAGE3
(HGNC:26058)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
CFAP69
(HGNC:26107)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
DNAAF5
(HGNC:26013)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
TCTN1
(HGNC:26113)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
EXO5
(HGNC:26115)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
REEP4
(HGNC:26176)
|
dystonic disorder
(MONDO_0003441)
|
Limited
|
|
|
REEP4
(HGNC:26176)
|
benign essential blepharospasm
(MONDO_0011728)
|
Limited
|
|
|
ELMOD3
(HGNC:26158)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
REEP4
(HGNC:26176)
|
blepharospasm-oromandibular dystonia syndrome
(MONDO_0019772)
|
Limited
|
|
|
ZNF672
(HGNC:26179)
|
GLUT1 deficiency syndrome
(MONDO_0000188)
|
Disputed
|
|
|
CCDC134
(HGNC:26185)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Strong
|
|
|
CSPP1
(HGNC:26193)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
STEEP1
(HGNC:26239)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
TMEM53
(HGNC:26186)
|
craniotubular dysplasia, Ikegawa type
(MONDO_0859226)
|
Strong
|
|
|
MYO19
(HGNC:26234)
|
hearing loss disorder
(MONDO_0005365)
|
Limited
|
|
|
NDNF
(HGNC:26256)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
PLEKHS1
(HGNC:26285)
|
urinary bladder cancer
(MONDO_0001187)
|
Strong
|
|
|
CFAP54
(HGNC:26456)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
HENMT1
(HGNC:26400)
|
male infertility
(MONDO_0005372)
|
Moderate
|
|
|
TSNARE1
(HGNC:26437)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
CFAP54
(HGNC:26456)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CCDC122
(HGNC:26478)
|
leprosy
(MONDO_0005124)
|
Strong
|
|
|
KASH5
(HGNC:26520)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
ZNF513
(HGNC:26498)
|
hereditary gingival fibromatosis
(MONDO_0016070)
|
Strong
|
|
|
HSPB6
(HGNC:26511)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
VWA5B1
(HGNC:26538)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
HYLS1
(HGNC:26558)
|
hydrolethalus syndrome
(MONDO_0006037)
|
Strong
|
|
|
ZFYVE27
(HGNC:26559)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Limited
|
|
|
ODAD1
(HGNC:26560)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
HYLS1
(HGNC:26558)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
TERB1
(HGNC:26675)
|
female infertility
(MONDO_0021124)
|
Limited
|
|
|
MLKL
(HGNC:26617)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
ANKS6
(HGNC:26724)
|
nephronophthisis
(MONDO_0019005)
|
Strong
|
|
|
CCDC116
(HGNC:26688)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
TYW5
(HGNC:26754)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
ANKRD31
(HGNC:26853)
|
premature menopause
(MONDO_0001119)
|
Moderate
|
|
|
CKAP2L
(HGNC:26877)
|
Filippi syndrome
(MONDO_0010092)
|
Strong
|
|
|
FAM241A
(HGNC:26813)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
ERCC6L2
(HGNC:26922)
|
pancytopenia
(MONDO_0001529)
|
Strong
|
|
|
TAPT1
(HGNC:26887)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Strong
|
|
|
JAGN1
(HGNC:26926)
|
severe congenital neutropenia
(MONDO_0018542)
|
Strong
|
|
|
FOXRED1
(HGNC:26927)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
UFC1
(HGNC:26941)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
UFC1
(HGNC:26941)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
GSTT4
(HGNC:26930)
|
velocardiofacial syndrome
(MONDO_0008644)
|
Limited
|
|
|
GPCPD1
(HGNC:26957)
|
2q37 microdeletion syndrome
(MONDO_0010886)
|
Limited
|
|
|
C10orf71
(HGNC:26973)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
SPNS2
(HGNC:26992)
|
hearing loss disorder
(MONDO_0005365)
|
Moderate
|
|
|
ZNF816
(HGNC:26995)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
CMPK2
(HGNC:27015)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Strong
|
|
|
ZNF827
(HGNC:27193)
|
Hirschsprung disease
(MONDO_0018309)
|
Limited
|
|
|
ZNF827
(HGNC:27193)
|
Sotos syndrome
(MONDO_0019349)
|
Limited
|
|
|
IDO2
(HGNC:27269)
|
sarcoidosis
(MONDO_0019338)
|
Limited
|
|
|
ZCCHC12
(HGNC:27273)
|
intellectual disability
(MONDO_0001071)
|
Disputed
|
|
|
MPZL3
(HGNC:27279)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
CRTC2
(HGNC:27301)
|
non-small cell lung carcinoma
(MONDO_0005233)
|
Limited
|
|
|
CRTC2
(HGNC:27301)
|
lung cancer
(MONDO_0008903)
|
Limited
|
|
|
DDT
(HGNC:2732)
|
velocardiofacial syndrome
(MONDO_0008644)
|
Limited
|
|
|
PDILT
(HGNC:27338)
|
nephrolithiasis
(MONDO_0008171)
|
Strong
|
|
|
DDX11
(HGNC:2736)
|
Warsaw breakage syndrome
(MONDO_0013252)
|
Strong
|
|
|
DHX15
(HGNC:2738)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
TSEN54
(HGNC:27561)
|
pontocerebellar hypoplasia
(MONDO_0020135)
|
Strong
|
|
|
DEFA5
(HGNC:2764)
|
Crohn disease
(MONDO_0005011)
|
Moderate
|
|
|
EMC10
(HGNC:27609)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
DEFA6
(HGNC:2765)
|
Crohn disease
(MONDO_0005011)
|
Limited
|
|
|
DFFB
(HGNC:2773)
|
polycystic ovary syndrome
(MONDO_0008487)
|
Limited
|
|
|
SLC6A19
(HGNC:27960)
|
Hartnup disease
(MONDO_0009324)
|
Strong
|
|
|
ZNF517
(HGNC:27984)
|
Zimmermann-Laband syndrome
(MONDO_0000200)
|
Limited
|
|
|
ZNF517
(HGNC:27984)
|
Temple-Baraitser syndrome
(MONDO_0012735)
|
Limited
|
|
|
MARCHF2
(HGNC:28038)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
BBIP1
(HGNC:28093)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
ADRA1D
(HGNC:280)
|
gastroparesis
(MONDO_0006769)
|
Strong
|
|
|
UBLCP1
(HGNC:28110)
|
psoriasis
(MONDO_0005083)
|
Strong
|
|
|
PIGY
(HGNC:28213)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Moderate
|
|
|
ZXDC
(HGNC:28160)
|
acquired polycythemia vera
(MONDO_0009891)
|
Limited
|
|
|
UTP23
(HGNC:28224)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
TLCD5
(HGNC:28280)
|
exfoliation syndrome
(MONDO_0008327)
|
Limited
|
|
|
MIEN1
(HGNC:28230)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
CCDC32
(HGNC:28295)
|
cardiofacioneurodevelopmental syndrome
(MONDO_0030873)
|
Strong
|
|
|
CHCHD7
(HGNC:28314)
|
pleomorphic adenoma
(MONDO_0008401)
|
Moderate
|
|
|
HORMAD2
(HGNC:28383)
|
IgA glomerulonephritis
(MONDO_0005342)
|
Moderate
|
|
|
WBP2NL
(HGNC:28389)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
THOC6
(HGNC:28369)
|
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
(MONDO_0013362)
|
Strong
|
|
|
TSEN2
(HGNC:28422)
|
pontocerebellar hypoplasia
(MONDO_0020135)
|
Strong
|
|
|
STAC3
(HGNC:28423)
|
Bailey-Bloch congenital myopathy
(MONDO_0009722)
|
Strong
|
|
|
TSEN2
(HGNC:28422)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
DGCR2
(HGNC:2845)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
POLR3GL
(HGNC:28466)
|
Wiedemann-Rautenstrauch syndrome
(MONDO_0009910)
|
Moderate
|
|
|
HROB
(HGNC:28460)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
MRI1
(HGNC:28469)
|
ventricular septal defect
(MONDO_0002070)
|
Strong
|
|
|
CCNQ
(HGNC:28434)
|
syndactyly-telecanthus-anogenital and renal malformations syndrome
(MONDO_0010408)
|
Strong
|
|
|
TMEM151A
(HGNC:28497)
|
episodic kinesigenic dyskinesia
(MONDO_0044202)
|
Strong
|
|
|
DGKD
(HGNC:2851)
|
rheumatoid arthritis
(MONDO_0008383)
|
Limited
|
|
|
DGKD
(HGNC:2851)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
METTL16
(HGNC:28484)
|
colorectal cancer
(MONDO_0005575)
|
Moderate
|
|
|
CYBC1
(HGNC:28672)
|
chronic granulomatous disease
(MONDO_0018305)
|
Strong
|
|
|
SCARA5
(HGNC:28701)
|
von Willebrand disease (hereditary or acquired)
(MONDO_0024574)
|
Limited
|
|
|
CNIH2
(HGNC:28744)
|
gout
(MONDO_0005393)
|
Strong
|
|
|
SHLD2
(HGNC:28773)
|
gout
(MONDO_0005393)
|
Limited
|
|
|
DIAPH2
(HGNC:2877)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
DIAPH2
(HGNC:2877)
|
laryngeal squamous cell carcinoma
(MONDO_0005595)
|
Moderate
|
|
|
KIAA0825
(HGNC:28532)
|
postaxial polydactyly
(MONDO_0020927)
|
Strong
|
|
|
SYCE1
(HGNC:28852)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
MDFIC
(HGNC:28870)
|
lymphatic malformation 12
(MONDO_0031043)
|
Strong
|
|
|
DAGLB
(HGNC:28923)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
P4HTM
(HGNC:28858)
|
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
(MONDO_0018572)
|
Strong
|
|
|
TBC1D21
(HGNC:28536)
|
exfoliation syndrome
(MONDO_0008327)
|
Strong
|
|
|
KIAA0040
(HGNC:28950)
|
alcohol dependence
(MONDO_0007079)
|
Moderate
|
|
|
ZNF646
(HGNC:29004)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
GARRE1
(HGNC:29016)
|
primary myelofibrosis
(MONDO_0009692)
|
Limited
|
|
|
DLAT
(HGNC:2896)
|
pyruvate dehydrogenase deficiency
(MONDO_0019169)
|
Strong
|
|
|
SGSM2
(HGNC:29026)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
SFI1
(HGNC:29064)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
IQCK
(HGNC:28556)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
DGKQ
(HGNC:2856)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
SFI1
(HGNC:29064)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
DLGAP2
(HGNC:2906)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SFI1
(HGNC:29064)
|
uterine corpus leiomyoma
(MONDO_0007886)
|
Limited
|
|
|
DNAAF6
(HGNC:28570)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CYBC1
(HGNC:28672)
|
inflammatory bowel disease
(MONDO_0005265)
|
Strong
|
|
|
PROCA1
(HGNC:28600)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ZNF577
(HGNC:28673)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
DHCR24
(HGNC:2859)
|
desmosterolosis
(MONDO_0011217)
|
Strong
|
|
|
CABCOCO1
(HGNC:28678)
|
hypertensive disorder
(MONDO_0005044)
|
Strong
|
|
|
CABCOCO1
(HGNC:28678)
|
cardiovascular disorder
(MONDO_0004995)
|
Strong
|
|
|
VWA8
(HGNC:29071)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
VWA8
(HGNC:29071)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ENTREP2
(HGNC:29075)
|
age-related macular degeneration
(MONDO_0005150)
|
Limited
|
|
|
VWA8
(HGNC:29071)
|
rheumatoid arthritis
(MONDO_0008383)
|
Limited
|
|
|
PDS5A
(HGNC:29088)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Strong
|
|
|
DLL3
(HGNC:2909)
|
spondylocostal dysostosis
(MONDO_0000359)
|
Strong
|
|
|
TESPA1
(HGNC:29109)
|
rheumatoid arthritis
(MONDO_0008383)
|
Limited
|
|
|
TESPA1
(HGNC:29109)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
DLL4
(HGNC:2910)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
DENND3
(HGNC:29134)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Strong
|
|
|
DLX3
(HGNC:2916)
|
tricho-dento-osseous syndrome
(MONDO_0008592)
|
Strong
|
|
|
IQCE
(HGNC:29171)
|
polydactyly
(MONDO_0021003)
|
Strong
|
|
|
KAZN
(HGNC:29173)
|
endometriosis
(MONDO_0005133)
|
Moderate
|
|
|
KDM4B
(HGNC:29136)
|
corpus callosum, agenesis of
(MONDO_0009022)
|
Moderate
|
|
|
TCF25
(HGNC:29181)
|
dementia
(MONDO_0001627)
|
Moderate
|
|
|
TCF25
(HGNC:29181)
|
cerebrovascular disorder
(MONDO_0011057)
|
Limited
|
|
|
PLCH1
(HGNC:29185)
|
holoprosencephaly
(MONDO_0016296)
|
Strong
|
|
|
ZNF512B
(HGNC:29212)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Disputed
|
|
|
BAHCC1
(HGNC:29279)
|
spinal muscular atrophy
(MONDO_0001516)
|
Disputed
|
|
|
ARHGAP31
(HGNC:29216)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
SH3PXD2B
(HGNC:29242)
|
Frank-Ter Haar syndrome
(MONDO_0009579)
|
Strong
|
|
|
GRAMD1B
(HGNC:29214)
|
multiple sclerosis
(MONDO_0005301)
|
Strong
|
|
|
ADSS2
(HGNC:292)
|
schizophrenia
(MONDO_0005090)
|
Disputed
|
|
|
FBRSL1
(HGNC:29308)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
ZDBF2
(HGNC:29313)
|
nasopalpebral lipoma-coloboma syndrome
(MONDO_0008182)
|
Limited
|
|
|
ZSWIM6
(HGNC:29316)
|
acromelic frontonasal dysostosis
(MONDO_0011359)
|
Strong
|
|
|
THSD7B
(HGNC:29348)
|
lung adenocarcinoma
(MONDO_0005061)
|
Limited
|
|
|
KLHL15
(HGNC:29347)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
THSD7B
(HGNC:29348)
|
lung cancer
(MONDO_0008903)
|
Limited
|
|
|
FHIP2A
(HGNC:29320)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ZNF518B
(HGNC:29365)
|
gout
(MONDO_0005393)
|
Strong
|
|
|
ZNF526
(HGNC:29415)
|
Dentici-Novelli neurodevelopmental syndrome
(MONDO_0859251)
|
Moderate
|
|
|
EARS2
(HGNC:29419)
|
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
(MONDO_0013971)
|
Strong
|
|
|
RSPRY1
(HGNC:29420)
|
spondyloepimetaphyseal dysplasia
(MONDO_0100510)
|
Strong
|
|
|
CCBE1
(HGNC:29426)
|
Hennekam syndrome
(MONDO_0016256)
|
Strong
|
|
|
DNAH12
(HGNC:2943)
|
gastric adenocarcinoma
(MONDO_0005036)
|
Limited
|
|
|
KIF2B
(HGNC:29443)
|
obesity disorder
(MONDO_0011122)
|
Moderate
|
|
|
GLIS2
(HGNC:29450)
|
nephronophthisis
(MONDO_0019005)
|
Strong
|
|
|
LCE3B
(HGNC:29462)
|
psoriasis
(MONDO_0005083)
|
Moderate
|
|
|
GPSM2
(HGNC:29501)
|
Chudley-McCullough syndrome
(MONDO_0011411)
|
Strong
|
|
|
C12orf57
(HGNC:29521)
|
temtamy syndrome
(MONDO_0009033)
|
Strong
|
|
|
MTF2
(HGNC:29535)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
MAPKBP1
(HGNC:29536)
|
nephronophthisis
(MONDO_0019005)
|
Strong
|
|
|
NEXN
(HGNC:29557)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
PLPPR2
(HGNC:29566)
|
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
(MONDO_0008828)
|
Strong
|
|
|
LSR
(HGNC:29572)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
MAN2B2
(HGNC:29623)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Limited
|
|
|
DYNC1I2
(HGNC:2964)
|
Beckwith-Wiedemann syndrome
(MONDO_0007534)
|
Limited
|
|
|
MESP1
(HGNC:29658)
|
ventricular septal defect
(MONDO_0002070)
|
Strong
|
|
|
MESP1
(HGNC:29658)
|
congenital heart disease
(MONDO_0005453)
|
Strong
|
|
|
MTFMT
(HGNC:29666)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
SLC25A32
(HGNC:29683)
|
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
|
Strong
|
|
|
SLC25A37
(HGNC:29786)
|
multiple sclerosis
(MONDO_0005301)
|
Limited
|
|
|
TOP1MT
(HGNC:29787)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
MUS81
(HGNC:29814)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
GFM2
(HGNC:29682)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MAP3K21
(HGNC:29798)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
MRTFB
(HGNC:29819)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
NAT10
(HGNC:29830)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
N4BP1
(HGNC:29850)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
DNTT
(HGNC:2983)
|
acute lymphoblastic leukemia
(MONDO_0004967)
|
Limited
|
|
|
DOC2A
(HGNC:2985)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
UBAP2L
(HGNC:29877)
|
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
(MONDO_0957588)
|
Strong
|
|
|
CD300LF
(HGNC:29883)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
ISCU
(HGNC:29882)
|
hereditary myopathy with lactic acidosis due to ISCU deficiency
(MONDO_0009706)
|
Strong
|
|
|
NLRP2B
(HGNC:29887)
|
ovarian cancer
(MONDO_0008170)
|
Limited
|
|
|
CALCOCO2
(HGNC:29912)
|
Crohn disease
(MONDO_0005011)
|
Strong
|
|
|
MDM1
(HGNC:29917)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CALCOCO2
(HGNC:29912)
|
ulcerative colitis
(MONDO_0005101)
|
Strong
|
|
|
MDM1
(HGNC:29917)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
NUP37
(HGNC:29929)
|
cardiovascular disorder
(MONDO_0004995)
|
Limited
|
|
|
NUP37
(HGNC:29929)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
COASY
(HGNC:29932)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Strong
|
|
|
CCDC65
(HGNC:29937)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
GATAD1
(HGNC:29941)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
OIT3
(HGNC:29953)
|
gout
(MONDO_0005393)
|
Limited
|
|
|
RHOXF1
(HGNC:29993)
|
oligospermia
(MONDO_0001913)
|
Strong
|
|
|
RHOXF1
(HGNC:29993)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
RHOXF1
(HGNC:29993)
|
azoospermia
(MONDO_0100459)
|
Strong
|
|
|
PGLYRP4
(HGNC:30015)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
REEP6
(HGNC:30078)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ATAD2
(HGNC:30123)
|
lung cancer
(MONDO_0008903)
|
Moderate
|
|
|
LZTS3
(HGNC:30139)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
TBKBP1
(HGNC:30140)
|
ankylosing spondylitis
(MONDO_0005306)
|
Strong
|
|
|
ZFAND6
(HGNC:30164)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
PCP2
(HGNC:30209)
|
relapsing polychondritis
(MONDO_0019125)
|
Limited
|
|
|
TUSC3
(HGNC:30242)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
RALGPS2
(HGNC:30279)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
PYGO2
(HGNC:30257)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
PYGO2
(HGNC:30257)
|
azoospermia
(MONDO_0100459)
|
Moderate
|
|
|
AEBP1
(HGNC:303)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Strong
|
|
|
RGL1
(HGNC:30281)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
LEO1
(HGNC:30401)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
RBM47
(HGNC:30358)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Strong
|
|
|
LRIF1
(HGNC:30299)
|
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
|
Strong
|
|
|
PHB2
(HGNC:30306)
|
chronic granulomatous disease
(MONDO_0018305)
|
Limited
|
|
|
SPPL3
(HGNC:30424)
|
systemic sclerosis
(MONDO_0005100)
|
Strong
|
|
|
SPPL3
(HGNC:30424)
|
primary biliary cholangitis
(MONDO_0005388)
|
Strong
|
|
|
SH2D6
(HGNC:30439)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
PSMG1
(HGNC:3043)
|
Crohn disease
(MONDO_0005011)
|
Strong
|
|
|
PSMG1
(HGNC:3043)
|
ulcerative colitis
(MONDO_0005101)
|
Strong
|
|
|
PSMG1
(HGNC:3043)
|
inflammatory bowel disease
(MONDO_0005265)
|
Limited
|
|
|
KLHL40
(HGNC:30372)
|
nemaline myopathy
(MONDO_0018958)
|
Strong
|
|
|
RCCD1
(HGNC:30457)
|
exocrine pancreatic carcinoma
(MONDO_0005192)
|
Strong
|
|
|
UBR3
(HGNC:30467)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
RCCD1
(HGNC:30457)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
TMEM147
(HGNC:30414)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
PCMTD1
(HGNC:30483)
|
primary angle-closure glaucoma
(MONDO_0001868)
|
Limited
|
|
|
IFT172
(HGNC:30391)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
DSG1
(HGNC:3048)
|
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
|
Strong
|
|
|
DNAAF3
(HGNC:30492)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
DSG1
(HGNC:3048)
|
striate palmoplantar keratoderma
(MONDO_0018865)
|
Strong
|
|
|
DNAJC19
(HGNC:30528)
|
3-methylglutaconic aciduria type 5
(MONDO_0012435)
|
Strong
|
|
|
EPYC
(HGNC:3053)
|
posterior amorphous corneal dystrophy
(MONDO_0013027)
|
Limited
|
|
|
TADA1
(HGNC:30631)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
SUSD2
(HGNC:30667)
|
myocardial ischemia
(MONDO_0024644)
|
Strong
|
|
|
SEPSECS
(HGNC:30605)
|
pontocerebellar hypoplasia type 2D
(MONDO_0013438)
|
Strong
|
|
|
SV2C
(HGNC:30670)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
CAND2
(HGNC:30689)
|
atrial fibrillation
(MONDO_0004981)
|
Strong
|
|
|
TARS2
(HGNC:30740)
|
combined oxidative phosphorylation defect type 21
(MONDO_0014398)
|
Strong
|
|
|
TTC21A
(HGNC:30761)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
GTF2IRD2
(HGNC:30775)
|
Williams syndrome
(MONDO_0008678)
|
Strong
|
|
|
TRAIP
(HGNC:30764)
|
Seckel syndrome 9
(MONDO_0014767)
|
Limited
|
|
|
CDCA7L
(HGNC:30777)
|
plasma cell myeloma
(MONDO_0009693)
|
Strong
|
|
|
UBIAD1
(HGNC:30791)
|
Schnyder corneal dystrophy
(MONDO_0007374)
|
Strong
|
|
|
TSPAN11
(HGNC:30795)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
TSPAN11
(HGNC:30795)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
PRRG4
(HGNC:30799)
|
WAGR syndrome
(MONDO_0008681)
|
Strong
|
|
|
PRSS55
(HGNC:30824)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
TDRD7
(HGNC:30831)
|
glaucoma
(MONDO_0005041)
|
Moderate
|
|
|
SEZ6L2
(HGNC:30844)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
POC1B
(HGNC:30836)
|
cone dystrophy
(MONDO_0000455)
|
Strong
|
|
|
DVL1
(HGNC:3084)
|
Robinow syndrome
(MONDO_0019978)
|
Strong
|
|
|
TBC1D31
(HGNC:30888)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Moderate
|
|
|
VWA1
(HGNC:30910)
|
neuromuscular disease
(MONDO_0019056)
|
Strong
|
|
|
ZC3H7A
(HGNC:30959)
|
pancreatic ductal adenocarcinoma
(MONDO_0005184)
|
Limited
|
|
|
YY1AP1
(HGNC:30935)
|
grange syndrome
(MONDO_0011243)
|
Strong
|
|
|
OR2T35
(HGNC:31257)
|
ovarian carcinoma
(MONDO_0005140)
|
Limited
|
|
|
SLC16A13
(HGNC:31037)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
OR2T35
(HGNC:31257)
|
xeroderma pigmentosum group C
(MONDO_0010211)
|
Limited
|
|
|
HAPLN4
(HGNC:31357)
|
essential tremor
(MONDO_0003233)
|
Limited
|
|
|
S1PR3
(HGNC:3167)
|
neurocutaneous melanocytosis
(MONDO_0009578)
|
Limited
|
|
|
BOD1L1
(HGNC:31792)
|
premature menopause
(MONDO_0001119)
|
Moderate
|
|
|
TRIM67
(HGNC:31859)
|
hypospadias
(MONDO_0005345)
|
Limited
|
|
|
PHC1
(HGNC:3182)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
AGA
(HGNC:318)
|
aspartylglucosaminuria
(MONDO_0008830)
|
Strong
|
|
|
NBEAL2
(HGNC:31928)
|
gray platelet syndrome
(MONDO_0007686)
|
Strong
|
|
|
EEF1B2
(HGNC:3208)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
SYNDIG1L
(HGNC:32388)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
EHD3
(HGNC:3244)
|
major depressive disorder
(MONDO_0002009)
|
Limited
|
|
|
ALG11
(HGNC:32456)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
PRCD
(HGNC:32528)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
GFRAL
(HGNC:32789)
|
anorexia nervosa
(MONDO_0005351)
|
Limited
|
|
|
TRIM71
(HGNC:32669)
|
congenital hydrocephalus
(MONDO_0016349)
|
Strong
|
|
|
EIF4EBP3
(HGNC:3290)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
NKX2-6
(HGNC:32940)
|
congenital heart disease
(MONDO_0005453)
|
Strong
|
|
|
AGRP
(HGNC:330)
|
morbid obesity
(MONDO_0005139)
|
Disputed
|
|
|
NKX2-6
(HGNC:32940)
|
persistent truncus arteriosus
(MONDO_0018072)
|
Strong
|
|
|
AGRP
(HGNC:330)
|
obesity disorder
(MONDO_0011122)
|
Strong
|
|
|
ELFN1
(HGNC:33154)
|
restless legs syndrome
(MONDO_0005391)
|
Strong
|
|
|
ELAVL4
(HGNC:3315)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
CTTN
(HGNC:3338)
|
esophageal squamous cell carcinoma
(MONDO_0005580)
|
Moderate
|
|
|
EXOG
(HGNC:3347)
|
pseudomyxoma peritonei
(MONDO_0017048)
|
Limited
|
|
|
GSTT2B
(HGNC:33437)
|
velocardiofacial syndrome
(MONDO_0008644)
|
Limited
|
|
|
ATRIP
(HGNC:33499)
|
Seckel syndrome
(MONDO_0019342)
|
Strong
|
|
|
NDUFAF8
(HGNC:33551)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
CCDC61
(HGNC:33629)
|
relapsing polychondritis
(MONDO_0019125)
|
Limited
|
|
|
C2CD4A
(HGNC:33627)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
MYMK
(HGNC:33778)
|
Carey-Fineman-Ziter syndrome
(MONDO_0031415)
|
Strong
|
|
|
FAM174B
(HGNC:34339)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
C2orf80
(HGNC:34352)
|
glioma
(MONDO_0021042)
|
Strong
|
|
|
USP17L2
(HGNC:34434)
|
endometriosis
(MONDO_0005133)
|
Limited
|
|
|
FABP12
(HGNC:34524)
|
familial multiple trichoepithelioma
(MONDO_0011114)
|
Limited
|
|
|
FABP12
(HGNC:34524)
|
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
|
Limited
|
|
|
IGLON5
(HGNC:34550)
|
autoimmune encephalopathy with parasomnia and obstructive sleep apnea
(MONDO_0018489)
|
Strong
|
|
|
ESD
(HGNC:3465)
|
Wilson disease
(MONDO_0010200)
|
Strong
|
|
|
EVI5
(HGNC:3501)
|
multiple sclerosis
(MONDO_0005301)
|
Strong
|
|
|
ESRRG
(HGNC:3474)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
FOXI3
(HGNC:35123)
|
craniofacial microsomia
(MONDO_0015397)
|
Strong
|
|
|
EML6
(HGNC:35412)
|
keratoconus
(MONDO_0015486)
|
Strong
|
|
|
FAH
(HGNC:3579)
|
tyrosinemia type I
(MONDO_0010161)
|
Strong
|
|
|
FCGRT
(HGNC:3621)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
FCGRT
(HGNC:3621)
|
colon carcinoma
(MONDO_0002032)
|
Limited
|
|
|
FCGRT
(HGNC:3621)
|
uterine corpus leiomyoma
(MONDO_0007886)
|
Limited
|
|
|
FCGRT
(HGNC:3621)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
FDX1
(HGNC:3638)
|
IgA glomerulonephritis
(MONDO_0005342)
|
Limited
|
|
|
FEM1B
(HGNC:3649)
|
polycystic ovary syndrome
(MONDO_0008487)
|
Moderate
|
|
|
KBTBD13
(HGNC:37227)
|
nemaline myopathy
(MONDO_0018958)
|
Strong
|
|
|
KBTBD13
(HGNC:37227)
|
nemaline myopathy 6
(MONDO_0012237)
|
Strong
|
|
|
KBTBD13
(HGNC:37227)
|
congenital myopathy
(MONDO_0019952)
|
Moderate
|
|
|
FLRT3
(HGNC:3762)
|
congenital hypogonadotropic hypogonadism
(MONDO_0015770)
|
Limited
|
|
|
FOXD2
(HGNC:3803)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Strong
|
|
|
CENPI
(HGNC:3968)
|
nephrotic syndrome
(MONDO_0005377)
|
Limited
|
|
|
CENPI
(HGNC:3968)
|
nephrotic syndrome of childhood - steroid sensitive
(MONDO_0044781)
|
Strong
|
|
|
FSTL1
(HGNC:3972)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
MUC22
(HGNC:39755)
|
asthma
(MONDO_0004979)
|
Strong
|
|
|
PET100
(HGNC:40038)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
PET100
(HGNC:40038)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Strong
|
|
|
MCIDAS
(HGNC:40050)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
FUT7
(HGNC:4018)
|
hereditary multiple osteochondromas
(MONDO_0005508)
|
Strong
|
|
|
FZD7
(HGNC:4045)
|
Lynch syndrome
(MONDO_0005835)
|
Limited
|
|
|
FZD7
(HGNC:4045)
|
classic familial adenomatous polyposis
(MONDO_0021055)
|
Limited
|
|
|
GALE
(HGNC:4116)
|
galactosemia
(MONDO_0018116)
|
Strong
|
|
|
ALDH4A1
(HGNC:406)
|
hyperprolinemia type 2
(MONDO_0009401)
|
Strong
|
|
|
ALDOA
(HGNC:414)
|
hereditary fructose intolerance
(MONDO_0009249)
|
Strong
|
|
|
ALDOC
(HGNC:418)
|
hereditary fructose intolerance
(MONDO_0009249)
|
Limited
|
|
|
GDF10
(HGNC:4215)
|
rectal cancer
(MONDO_0006519)
|
Strong
|
|
|
GDF10
(HGNC:4215)
|
colon carcinoma
(MONDO_0002032)
|
Strong
|
|
|
GDF7
(HGNC:4222)
|
Barrett esophagus
(MONDO_0013662)
|
Strong
|
|
|
GDF7
(HGNC:4222)
|
esophageal adenocarcinoma
(MONDO_0005028)
|
Strong
|
|
|
GFI1
(HGNC:4237)
|
severe congenital neutropenia
(MONDO_0018542)
|
Strong
|
|
|
CBLIF
(HGNC:4268)
|
hemolytic-uremic syndrome
(MONDO_0001549)
|
Strong
|
|
|
GFPT2
(HGNC:4242)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
CBLIF
(HGNC:4268)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
GMDS
(HGNC:4369)
|
OPTN-related open angle glaucoma
(MONDO_0100553)
|
Strong
|
|
|
GLP2R
(HGNC:4325)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
GNAT1
(HGNC:4393)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
GNAZ
(HGNC:4395)
|
neurofibromatosis type 1
(MONDO_0018975)
|
Limited
|
|
|
GNGT2
(HGNC:4412)
|
refractive error
(MONDO_0004892)
|
Limited
|
|
|
GNAI3
(HGNC:4387)
|
auriculocondylar syndrome
(MONDO_0000107)
|
Strong
|
|
|
GNPAT
(HGNC:4416)
|
rhizomelic chondrodysplasia punctata
(MONDO_0015776)
|
Strong
|
|
|
GNMT
(HGNC:4415)
|
guanidinoacetate methyltransferase deficiency
(MONDO_0012999)
|
Strong
|
|
|
GNGT2
(HGNC:4412)
|
glaucoma
(MONDO_0005041)
|
Limited
|
|
|
GNRH2
(HGNC:4420)
|
osteosarcoma
(MONDO_0009807)
|
Moderate
|
|
|
GNS
(HGNC:4422)
|
mucopolysaccharidosis type 3D
(MONDO_0009658)
|
Strong
|
|
|
GNGT2
(HGNC:4412)
|
myopic macular degeneration
(MONDO_0015807)
|
Limited
|
|
|
GPR3
(HGNC:4484)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
GPR55
(HGNC:4511)
|
anorexia nervosa
(MONDO_0005351)
|
Limited
|
|
|
GPR4
(HGNC:4497)
|
arteriovenous hemangioma/malformation
(MONDO_0001256)
|
Strong
|
|
|
FFAR1
(HGNC:4498)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
C5AR2
(HGNC:4527)
|
coronary artery disorder
(MONDO_0005010)
|
Strong
|
|
|
C5AR2
(HGNC:4527)
|
hyperlipidemia, familial combined, LPL related
(MONDO_0007759)
|
Limited
|
|
|
SUCNR1
(HGNC:4542)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
AMBN
(HGNC:452)
|
amelogenesis imperfecta
(MONDO_0019507)
|
Strong
|
|
|
GPX5
(HGNC:4557)
|
abdominal obesity-metabolic syndrome
(MONDO_0000816)
|
Strong
|
|
|
TECR
(HGNC:4551)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
GPX5
(HGNC:4557)
|
diabetes mellitus
(MONDO_0005015)
|
Limited
|
|
|
GPX5
(HGNC:4557)
|
obesity disorder
(MONDO_0011122)
|
Limited
|
|
|
GSPT1
(HGNC:4621)
|
lung cancer
(MONDO_0008903)
|
Limited
|
|
|
GSPT2
(HGNC:4622)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
GTF2E2
(HGNC:4651)
|
trichothiodystrophy
(MONDO_0018053)
|
Strong
|
|
|
GTF3C5
(HGNC:4668)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Strong
|
|
|
GUCY1B1
(HGNC:4687)
|
hypertensive disorder
(MONDO_0005044)
|
Strong
|
|
|
GYG2
(HGNC:4700)
|
glycogen storage disease II
(MONDO_0009290)
|
Limited
|
|
|
GTPBP2
(HGNC:4670)
|
Jaberi-Elahi syndrome
(MONDO_0060711)
|
Strong
|
|
|
GYG2
(HGNC:4700)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
H2BC15 Gene
(HGNC:4749)
|
prostate cancer
(MONDO_0008315)
|
Moderate
|
|
|
HARS2
(HGNC:4817)
|
Perrault syndrome
(MONDO_0017312)
|
Strong
|
|
|
HCCS
(HGNC:4837)
|
linear skin defects with multiple congenital anomalies 1
(MONDO_0024552)
|
Strong
|
|
|
ANGPTL2
(HGNC:490)
|
Schimke immuno-osseous dysplasia
(MONDO_0009458)
|
Strong
|
|
|
HK3
(HGNC:4925)
|
premature menopause
(MONDO_0001119)
|
Limited
|
|
|
HLX
(HGNC:4978)
|
congenital diaphragmatic hernia
(MONDO_0005711)
|
Limited
|
|
|
RIPK4
(HGNC:496)
|
Bartsocas-Papas syndrome 1
(MONDO_0009901)
|
Strong
|
|
|
HNRNPH3
(HGNC:5043)
|
salivary duct carcinoma
(MONDO_0044915)
|
Limited
|
|
|
HOXA4
(HGNC:5105)
|
lung adenocarcinoma
(MONDO_0005061)
|
Limited
|
|
|
HNRNPK
(HGNC:5044)
|
Au-Kline syndrome
(MONDO_0014700)
|
Strong
|
|
|
HOXA4
(HGNC:5105)
|
hypospadias
(MONDO_0005345)
|
Moderate
|
|
|
HOXA7
(HGNC:5108)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
HOXB4
(HGNC:5115)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
HOXB6
(HGNC:5117)
|
hypospadias
(MONDO_0005345)
|
Limited
|
|
|
HOXB7
(HGNC:5118)
|
neural tube defect
(MONDO_0018075)
|
Moderate
|
|
|
HOXD1
(HGNC:5132)
|
ovarian cancer
(MONDO_0008170)
|
Limited
|
|
|
HPD
(HGNC:5147)
|
hawkinsinuria
(MONDO_0007700)
|
Strong
|
|
|
HPD
(HGNC:5147)
|
tyrosinemia type III
(MONDO_0010162)
|
Strong
|
|
|
HPX
(HGNC:5171)
|
hemochromatosis type 1
(MONDO_0021001)
|
Limited
|
|
|
GSG1L2
(HGNC:51826)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
KRR1
(HGNC:5176)
|
polycystic ovary syndrome
(MONDO_0008487)
|
Moderate
|
|
|
HS3ST1
(HGNC:5194)
|
cardiovascular disorder
(MONDO_0004995)
|
Strong
|
|
|
HS3ST1
(HGNC:5194)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
HSPA6
(HGNC:5239)
|
EAST syndrome
(MONDO_0013005)
|
Limited
|
|
|
HSPA9
(HGNC:5244)
|
even-plus syndrome
(MONDO_0014801)
|
Strong
|
|
|
HSPB3
(HGNC:5248)
|
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
|
Strong
|
|
|
HTR1E
(HGNC:5291)
|
attention deficit-hyperactivity disorder
(MONDO_0007743)
|
Moderate
|
|
|
IDH3A
(HGNC:5384)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
IFNA17
(HGNC:5422)
|
sarcoidosis
(MONDO_0019338)
|
Disputed
|
|
|
ID3
(HGNC:5362)
|
Burkitt lymphoma
(MONDO_0007243)
|
Strong
|
|
|
IGFBP6
(HGNC:5475)
|
intervertebral disk degenerative disorder
(MONDO_0011385)
|
Limited
|
|
|
IFI35
(HGNC:5399)
|
acute myeloid leukemia
(MONDO_0018874)
|
Limited
|
|
|
AP1S1
(HGNC:559)
|
MEDNIK syndrome
(MONDO_0012251)
|
Strong
|
|
|
AP1S2
(HGNC:560)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
AP3S2
(HGNC:571)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
AP3S2
(HGNC:571)
|
obesity disorder
(MONDO_0011122)
|
Limited
|
|
|
AP2A2
(HGNC:562)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
AP3D1
(HGNC:568)
|
Hermansky-Pudlak syndrome 10
(MONDO_0014885)
|
Strong
|
|
|
APBB2
(HGNC:582)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
IGL
(HGNC:5853)
|
classic Hodgkin lymphoma
(MONDO_0009348)
|
Limited
|
|
|
IGLL1
(HGNC:5870)
|
agammaglobulinemia
(MONDO_0015977)
|
Strong
|
|
|
CD101
(HGNC:5949)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Limited
|
|
|
APEH
(HGNC:586)
|
Crohn disease
(MONDO_0005011)
|
Strong
|
|
|
IL13RA1
(HGNC:5974)
|
systemic sclerosis
(MONDO_0005100)
|
Disputed
|
|
|
APLP1
(HGNC:597)
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
(MONDO_0009092)
|
Limited
|
|
|
IL13RA1
(HGNC:5974)
|
asthma
(MONDO_0004979)
|
Limited
|
|
|
IL1RAPL2
(HGNC:5997)
|
Sotos syndrome
(MONDO_0019349)
|
Limited
|
|
|
INCENP
(HGNC:6058)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
INPP1
(HGNC:6071)
|
bipolar disorder
(MONDO_0004985)
|
Strong
|
|
|
ISG20
(HGNC:6130)
|
presbycusis
(MONDO_0043765)
|
Strong
|
|
|
ITGB1BP2
(HGNC:6154)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
IRF9
(HGNC:6131)
|
COVID-19
(MONDO_0100096)
|
Limited
|
|
|
JUNB
(HGNC:6205)
|
nodular lymphocyte predominant Hodgkin lymphoma
(MONDO_0044778)
|
Strong
|
|
|
KCNC3
(HGNC:6235)
|
spinocerebellar ataxia type 13
(MONDO_0011529)
|
Strong
|
|
|
KCNH1
(HGNC:6250)
|
Zimmermann-Laband syndrome
(MONDO_0000200)
|
Strong
|
|
|
KCNH1
(HGNC:6250)
|
Temple-Baraitser syndrome
(MONDO_0012735)
|
Strong
|
|
|
KCNMB2
(HGNC:6286)
|
hippocampal sclerosis of aging
(MONDO_0005544)
|
Limited
|
|
|
KCNS2
(HGNC:6301)
|
essential tremor
(MONDO_0003233)
|
Limited
|
|
|
KLHL3
(HGNC:6354)
|
pseudohypoaldosteronism type 2
(MONDO_0019162)
|
Strong
|
|
|
KLK14
(HGNC:6362)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
AQP3
(HGNC:636)
|
COVID-19
(MONDO_0100096)
|
Strong
|
|
|
KMO
(HGNC:6381)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
KIFC1
(HGNC:6389)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Disputed
|
|
|
KRT12
(HGNC:6414)
|
Meesmann corneal dystrophy
(MONDO_0007379)
|
Definitive
|
|
|
KRT13
(HGNC:6415)
|
hereditary mucosal leukokeratosis
(MONDO_0015748)
|
Strong
|
|
|
AQP8
(HGNC:642)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
KRT2
(HGNC:6439)
|
superficial epidermolytic ichthyosis
(MONDO_0007813)
|
Strong
|
|
|
KRT4
(HGNC:6441)
|
hereditary mucosal leukokeratosis
(MONDO_0015748)
|
Strong
|
|
|
KRT6B
(HGNC:6444)
|
pachyonychia congenita
(MONDO_0016471)
|
Strong
|
|
|
KRT82
(HGNC:6459)
|
keratoconus
(MONDO_0015486)
|
Moderate
|
|
|
KRT86
(HGNC:6463)
|
monilethrix
(MONDO_0008009)
|
Strong
|
|
|
LAIR2
(HGNC:6478)
|
pemphigus foliaceus
(MONDO_0019324)
|
Strong
|
|
|
LARS1
(HGNC:6512)
|
infantile liver failure syndrome 1
(MONDO_0024568)
|
Definitive
|
|
|
ARF1
(HGNC:652)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Strong
|
|
|
COG1
(HGNC:6545)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Moderate
|
|
|
COG2
(HGNC:6546)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
LETM1
(HGNC:6556)
|
Wolf-Hirschhorn syndrome
(MONDO_0008684)
|
Strong
|
|
|
LFNG
(HGNC:6560)
|
spondylocostal dysostosis
(MONDO_0000359)
|
Strong
|
|
|
LGALS4
(HGNC:6565)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
LIPF
(HGNC:6622)
|
Wolman disease
(MONDO_0019148)
|
Strong
|
|
|
LIPF
(HGNC:6622)
|
cholesteryl ester storage disease
(MONDO_0019149)
|
Strong
|
|
|
LLGL2
(HGNC:6629)
|
severe congenital neutropenia
(MONDO_0018542)
|
Limited
|
|
|
LLGL2
(HGNC:6629)
|
acute myeloid leukemia
(MONDO_0018874)
|
Limited
|
|
|
ARFRP1
(HGNC:662)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
IRAG2
(HGNC:6690)
|
lung adenocarcinoma
(MONDO_0005061)
|
Limited
|
|
|
LY75
(HGNC:6729)
|
Crohn disease
(MONDO_0005011)
|
Strong
|
|
|
LY9
(HGNC:6730)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
LMOD3
(HGNC:6649)
|
nemaline myopathy
(MONDO_0018958)
|
Definitive
|
|
|
MALL
(HGNC:6818)
|
nephronophthisis
(MONDO_0019005)
|
Moderate
|
|
|
ARHGDIA
(HGNC:678)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Strong
|
|
|
MAN1B1
(HGNC:6823)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
MAP3K10
(HGNC:6849)
|
Langerhans cell histiocytosis
(MONDO_0018310)
|
Limited
|
|
|
ARHGEF6
(HGNC:685)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
MAPK8IP1
(HGNC:6882)
|
Potocki-Shaffer syndrome
(MONDO_0011022)
|
Limited
|
|
|
RHOJ
(HGNC:688)
|
endometriosis
(MONDO_0005133)
|
Strong
|
|
|
RHOH
(HGNC:686)
|
epidermodysplasia verruciformis
(MONDO_0009176)
|
Strong
|
|
|
MARS1
(HGNC:6898)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
MATN3
(HGNC:6909)
|
multiple epiphyseal dysplasia
(MONDO_0016648)
|
Strong
|
|
|
MATR3
(HGNC:6912)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
MBD2
(HGNC:6917)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
MCF2
(HGNC:6940)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
ARL2
(HGNC:693)
|
MRCS syndrome
(MONDO_0016979)
|
Strong
|
|
|
MAPK9
(HGNC:6886)
|
hemophilia A
(MONDO_0010602)
|
Strong
|
|
|
MCF2
(HGNC:6940)
|
nervous system disorder
(MONDO_0005071)
|
Limited
|
|
|
MCF2
(HGNC:6940)
|
neuromuscular disease
(MONDO_0019056)
|
Limited
|
|
|
MELTF
(HGNC:7037)
|
lung adenocarcinoma
(MONDO_0005061)
|
Limited
|
|
|
OGA
(HGNC:7056)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
ARPC2
(HGNC:705)
|
ulcerative colitis
(MONDO_0005101)
|
Moderate
|
|
|
MGAT2
(HGNC:7045)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
MGST2
(HGNC:7063)
|
psoriasis
(MONDO_0005083)
|
Limited
|
|
|
MGST3
(HGNC:7064)
|
chronic obstructive pulmonary disease
(MONDO_0005002)
|
Strong
|
|
|
MINPP1
(HGNC:7102)
|
pontocerebellar hypoplasia
(MONDO_0020135)
|
Strong
|
|
|
MLANA
(HGNC:7124)
|
melanoma
(MONDO_0005105)
|
Strong
|
|
|
MMP19
(HGNC:7165)
|
interstitial lung disease 2
(MONDO_0800029)
|
Strong
|
|
|
MNAT1
(HGNC:7181)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
MPI
(HGNC:7216)
|
MPI-congenital disorder of glycosylation
(MONDO_0011257)
|
Strong
|
|
|
MPDU1
(HGNC:7207)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
MNDA
(HGNC:7183)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Strong
|
|
|
MPI
(HGNC:7216)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Strong
|
|
|
MPP3
(HGNC:7221)
|
X-linked intellectual disability
(MONDO_0100284)
|
Limited
|
|
|
MT1E
(HGNC:7397)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
SEPTIN9
(HGNC:7323)
|
amyotrophic neuralgia
(MONDO_0008076)
|
Strong
|
|
|
MXRA5
(HGNC:7539)
|
malignant pleural mesothelioma
(MONDO_0005112)
|
Limited
|
|
|
GET3
(HGNC:752)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
ASPH
(HGNC:757)
|
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
(MONDO_0011106)
|
Strong
|
|
|
NAB1
(HGNC:7626)
|
idiopathic inflammatory myopathy
(MONDO_0600023)
|
Strong
|
|
|
NAB2
(HGNC:7627)
|
solitary fibrous tumor
(MONDO_0016238)
|
Strong
|
|
|
MYL4
(HGNC:7585)
|
atrial fibrillation
(MONDO_0004981)
|
Strong
|
|
|
MYO1E
(HGNC:7599)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Strong
|
|
|
NCKAP1
(HGNC:7666)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
NDST3
(HGNC:7682)
|
bipolar disorder
(MONDO_0004985)
|
Limited
|
|
|
NDST1
(HGNC:7680)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
NDST3
(HGNC:7682)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
NDUFA5
(HGNC:7688)
|
mucocutaneous lymph node syndrome
(MONDO_0012727)
|
Strong
|
|
|
NDUFA10
(HGNC:7684)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFA9
(HGNC:7693)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
NDUFA8
(HGNC:7692)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFC2
(HGNC:7706)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFS4
(HGNC:7711)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NFIC
(HGNC:7786)
|
neurofibromatosis type 1
(MONDO_0018975)
|
Limited
|
|
|
NFE2
(HGNC:7780)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
NEK3
(HGNC:7746)
|
situs inversus
(MONDO_0010029)
|
Strong
|
|
|
NFYA
(HGNC:7804)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
TONSL
(HGNC:7801)
|
spondyloepimetaphyseal dysplasia, sponastrime type
(MONDO_0010068)
|
Strong
|
|
|
NFKBIB
(HGNC:7798)
|
rheumatoid arthritis
(MONDO_0008383)
|
Limited
|
|
|
NMU
(HGNC:7859)
|
anorexia nervosa
(MONDO_0005351)
|
Limited
|
|
|
NIT1
(HGNC:7828)
|
EAST syndrome
(MONDO_0013005)
|
Strong
|
|
|
NNAT
(HGNC:7860)
|
anorexia nervosa
(MONDO_0005351)
|
Strong
|
|
|
NKX2-2
(HGNC:7835)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Strong
|
|
|
NOX3
(HGNC:7890)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
NPM2
(HGNC:7930)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
NOVA1
(HGNC:7886)
|
Rett syndrome
(MONDO_0010726)
|
Limited
|
|
|
ATOH1
(HGNC:797)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
NR4A3
(HGNC:7982)
|
extraskeletal myxoid chondrosarcoma
(MONDO_0012825)
|
Strong
|
|
|
NR6A1
(HGNC:7985)
|
microphthalmia, isolated, with coloboma
(MONDO_0000170)
|
Strong
|
|
|
NRBP1
(HGNC:7993)
|
steroid-resistant nephrotic syndrome
(MONDO_0044765)
|
Limited
|
|
|
NRDC
(HGNC:7995)
|
alcohol dependence
(MONDO_0007079)
|
Strong
|
|
|
NUDT2
(HGNC:8049)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
OCM
(HGNC:8105)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
ATP2A3
(HGNC:813)
|
benign essential blepharospasm
(MONDO_0011728)
|
Strong
|
|
|
OCLN
(HGNC:8104)
|
pseudo-TORCH syndrome
(MONDO_0009626)
|
Strong
|
|
|
OPHN1
(HGNC:8148)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
ATP5PB
(HGNC:840)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
OPTC
(HGNC:8158)
|
OPTN-related open angle glaucoma
(MONDO_0100553)
|
Limited
|
|
|
ACAA1
(HGNC:82)
|
asthma
(MONDO_0004979)
|
Moderate
|
|
|
OSM
(HGNC:8506)
|
cardiovascular disorder
(MONDO_0004995)
|
Limited
|
|
|
ATP5PO
(HGNC:850)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
P2RY11
(HGNC:8540)
|
narcolepsy
(MONDO_0021107)
|
Strong
|
|
|
OVOL1
(HGNC:8525)
|
atopic eczema
(MONDO_0004980)
|
Strong
|
|
|
BLOC1S6
(HGNC:8549)
|
Hermansky-Pudlak syndrome
(MONDO_0019312)
|
Strong
|
|
|
PACSIN2
(HGNC:8571)
|
acute lymphoblastic leukemia
(MONDO_0004967)
|
Limited
|
|
|
SLC45A3
(HGNC:8642)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
ATP6V1B2
(HGNC:854)
|
DOORS syndrome
(MONDO_0009079)
|
Strong
|
|
|
PANX2
(HGNC:8600)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
PCOLCE2
(HGNC:8739)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
PDE1B
(HGNC:8775)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
PDCD2
(HGNC:8762)
|
type 1 diabetes mellitus
(MONDO_0005147)
|
Disputed
|
|
|
ACAD8
(HGNC:87)
|
isobutyryl-CoA dehydrogenase deficiency
(MONDO_0012648)
|
Strong
|
|
|
PDK4
(HGNC:8812)
|
abdominal obesity-metabolic syndrome
(MONDO_0000816)
|
Limited
|
|
|
PDK4
(HGNC:8812)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
PEX12
(HGNC:8854)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
PEX12
(HGNC:8854)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
ATRN
(HGNC:885)
|
restless legs syndrome
(MONDO_0005391)
|
Limited
|
|
|
PEX13
(HGNC:8855)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
PEX3
(HGNC:8858)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
PGAM2
(HGNC:8889)
|
glycogen storage disease due to phosphoglycerate mutase deficiency
(MONDO_0009865)
|
Strong
|
|
|
INPP5J
(HGNC:8956)
|
colon carcinoma
(MONDO_0002032)
|
Limited
|
|
|
SERPINA4
(HGNC:8948)
|
acute kidney failure
(MONDO_0002492)
|
Limited
|
|
|
INPP5J
(HGNC:8956)
|
uterine corpus leiomyoma
(MONDO_0007886)
|
Limited
|
|
|
INPP5J
(HGNC:8956)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
INPP5J
(HGNC:8956)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
PIGL
(HGNC:8966)
|
CHIME syndrome
(MONDO_0010221)
|
Strong
|
|
|
PI4KB
(HGNC:8984)
|
EAST syndrome
(MONDO_0013005)
|
Limited
|
|
|
PKNOX1
(HGNC:9022)
|
plasma cell myeloma
(MONDO_0009693)
|
Moderate
|
|
|
PKP1
(HGNC:9023)
|
epidermolysis bullosa simplex due to plakophilin deficiency
(MONDO_0011472)
|
Strong
|
|
|
PKP4
(HGNC:9026)
|
sick sinus syndrome
(MONDO_0001823)
|
Limited
|
|
|
PIGC
(HGNC:8960)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
PLA2G10
(HGNC:9029)
|
schizophrenia
(MONDO_0005090)
|
Disputed
|
|
|
PLCD3
(HGNC:9061)
|
hypertensive disorder
(MONDO_0005044)
|
Limited
|
|
|
PLA2G5
(HGNC:9038)
|
Stargardt disease
(MONDO_0019353)
|
Limited
|
|
|
PLXNB2
(HGNC:9104)
|
Phelan-McDermid syndrome
(MONDO_0011652)
|
Limited
|
|
|
PNKD
(HGNC:9153)
|
paroxysmal nonkinesigenic dyskinesia
(MONDO_0700088)
|
Strong
|
|
|
PLCD3
(HGNC:9061)
|
cardiovascular disorder
(MONDO_0004995)
|
Moderate
|
|
|
EXOSC9
(HGNC:9137)
|
pontocerebellar hypoplasia
(MONDO_0020135)
|
Strong
|
|
|
POLR2C
(HGNC:9189)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
PPIL1
(HGNC:9260)
|
pontocerebellar hypoplasia
(MONDO_0020135)
|
Strong
|
|
|
PPOX
(HGNC:9280)
|
variegate porphyria
(MONDO_0008297)
|
Strong
|
|
|
PTPA
(HGNC:9308)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
PPP1R3C
(HGNC:9293)
|
Lafora disease
(MONDO_0009697)
|
Strong
|
|
|
PPP2R5B
(HGNC:9310)
|
multiple endocrine neoplasia type 1
(MONDO_0007540)
|
Disputed
|
|
|
PPY
(HGNC:9327)
|
morbid obesity
(MONDO_0005139)
|
Disputed
|
|
|
PPT2
(HGNC:9326)
|
chronic obstructive pulmonary disease
(MONDO_0005002)
|
Strong
|
|
|
BAAT
(HGNC:932)
|
intrahepatic cholestasis
(MONDO_0019072)
|
Moderate
|
|
|
PKN2
(HGNC:9406)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Disputed
|
|
|
PRKAB2
(HGNC:9379)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Refuted
|
|
|
PQBP1
(HGNC:9330)
|
Renpenning syndrome
(MONDO_0010653)
|
Strong
|
|
|
BAIAP2
(HGNC:947)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
BAG5
(HGNC:941)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
TMPRSS15
(HGNC:9490)
|
congenital enteropathy due to enteropeptidase deficiency
(MONDO_0009173)
|
Strong
|
|
|
BCR
(HGNC:1014)
|
acute myeloid leukemia
(MONDO_0018874)
|
Limited
|
|
|
BCR
(HGNC:1014)
|
acute lymphoblastic leukemia
(MONDO_0004967)
|
Strong
|
|
|
RHO
(HGNC:10012)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
ROR2
(HGNC:10257)
|
Robinow syndrome
(MONDO_0019978)
|
Definitive
|
|
|
RPS6KA3
(HGNC:10432)
|
Coffin-Lowry syndrome
(MONDO_0010561)
|
Definitive
|
|
|
RPS19
(HGNC:10402)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Definitive
|
|
|
RPGR
(HGNC:10295)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
RPGR
(HGNC:10295)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
RPE65
(HGNC:10294)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
SACS
(HGNC:10519)
|
Charlevoix-Saguenay spastic ataxia
(MONDO_0010041)
|
Definitive
|
|
|
SCNN1A
(HGNC:10599)
|
Liddle syndrome
(MONDO_0008323)
|
Limited
|
|
|
RUNX2
(HGNC:10472)
|
cleidocranial dysplasia 1
(MONDO_0007340)
|
Definitive
|
|
|
SCNN1A
(HGNC:10599)
|
pseudohypoaldosteronism type 1
(MONDO_0019161)
|
Definitive
|
|
|
SALL1
(HGNC:10524)
|
Townes-Brocks syndrome
(MONDO_0007142)
|
Definitive
|
|
|
SCNN1G
(HGNC:10602)
|
Liddle syndrome
(MONDO_0008323)
|
Definitive
|
|
|
SCNN1B
(HGNC:10600)
|
Liddle syndrome
(MONDO_0008323)
|
Definitive
|
|
|
BCR
(HGNC:1014)
|
chronic myelogenous leukemia, BCR-ABL1 positive
(MONDO_0011996)
|
Definitive
|
|
|
SGCA
(HGNC:10805)
|
autosomal recessive limb-girdle muscular dystrophy type 2D
(MONDO_0011968)
|
Definitive
|
|
|
RS1
(HGNC:10457)
|
X-linked retinoschisis
(MONDO_0010725)
|
Definitive
|
|
|
SGCE
(HGNC:10808)
|
myoclonic dystonia 11
(MONDO_0008044)
|
Definitive
|
|
|
SGCB
(HGNC:10806)
|
autosomal recessive limb-girdle muscular dystrophy type 2E
(MONDO_0011423)
|
Definitive
|
|
|
SGSH
(HGNC:10818)
|
mucopolysaccharidosis type 3A
(MONDO_0009655)
|
Definitive
|
|
|
SGCG
(HGNC:10809)
|
autosomal recessive limb-girdle muscular dystrophy type 2C
(MONDO_0009677)
|
Strong
|
|
|
SGCG
(HGNC:10809)
|
limb-girdle muscular dystrophy
(MONDO_0016971)
|
Strong
|
|
|
SHOX
(HGNC:10853)
|
Leri-Weill dyschondrosteosis
(MONDO_0007481)
|
Definitive
|
|
|
SGSH
(HGNC:10818)
|
mucopolysaccharidosis type 3
(MONDO_0018937)
|
Definitive
|
|
|
FOXL2
(HGNC:1092)
|
premature menopause
(MONDO_0001119)
|
Moderate
|
|
|
FOXL2
(HGNC:1092)
|
granulosa cell tumor
(MONDO_0006036)
|
Definitive
|
|
|
FOXL2
(HGNC:1092)
|
blepharophimosis, ptosis, and epicanthus inversus syndrome
(MONDO_0007201)
|
Definitive
|
|
|
SLC17A5
(HGNC:10933)
|
Salla disease
(MONDO_0011449)
|
Definitive
|
|
|
SLC19A2
(HGNC:10938)
|
thiamine-responsive megaloblastic anemia syndrome
(MONDO_0009575)
|
Definitive
|
|
|
SLC20A2
(HGNC:10947)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Definitive
|
|
|
SLCO2A1
(HGNC:10955)
|
primary hypertrophic osteoarthropathy
(MONDO_0016620)
|
Definitive
|
|
|
SLC22A5
(HGNC:10969)
|
systemic primary carnitine deficiency disease
(MONDO_0008919)
|
Definitive
|
|
|
SLC26A2
(HGNC:10994)
|
multiple epiphyseal dysplasia
(MONDO_0016648)
|
Strong
|
|
|
SH2D1A
(HGNC:10820)
|
X-linked lymphoproliferative syndrome
(MONDO_0010627)
|
Definitive
|
|
|
SLC34A1
(HGNC:11019)
|
hypercalcemia, infantile
(MONDO_0000212)
|
Definitive
|
|
|
SHOX
(HGNC:10853)
|
Turner syndrome
(MONDO_0019499)
|
Definitive
|
|
|
SHOX
(HGNC:10853)
|
Langer mesomelic dysplasia
(MONDO_0009588)
|
Strong
|
|
|
SLC40A1
(HGNC:10909)
|
hemochromatosis type 1
(MONDO_0021001)
|
Limited
|
|
|
SLC5A5
(HGNC:11040)
|
congenital hypothyroidism
(MONDO_0018612)
|
Strong
|
|
|
SLC40A1
(HGNC:10909)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Definitive
|
|
|
SLC6A1
(HGNC:11042)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Strong
|
|
|
SLC6A8
(HGNC:11055)
|
creatine transporter deficiency
(MONDO_0010305)
|
Definitive
|
|
|
SLC12A1
(HGNC:10910)
|
Bartter syndrome
(MONDO_0015231)
|
Definitive
|
|
|
SLC16A2
(HGNC:10923)
|
Allan-Herndon-Dudley syndrome
(MONDO_0010354)
|
Definitive
|
|
|
SHH
(HGNC:10848)
|
holoprosencephaly
(MONDO_0016296)
|
Definitive
|
|
|
SLC26A2
(HGNC:10994)
|
diastrophic dysplasia
(MONDO_0009107)
|
Definitive
|
|
|
SMARCAL1
(HGNC:11102)
|
Schimke immuno-osseous dysplasia
(MONDO_0009458)
|
Definitive
|
|
|
SMARCA2
(HGNC:11098)
|
intellectual disability-sparse hair-brachydactyly syndrome
(MONDO_0011053)
|
Definitive
|
|
|
SLC7A7
(HGNC:11065)
|
lysinuric protein intolerance
(MONDO_0009109)
|
Definitive
|
|
|
SMC1A
(HGNC:11111)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Definitive
|
|
|
SLC5A2
(HGNC:11037)
|
familial renal glucosuria
(MONDO_0009297)
|
Strong
|
|
|
KDM5C
(HGNC:11114)
|
X-linked intellectual disability
(MONDO_0100284)
|
Definitive
|
|
|
SLC3A1
(HGNC:11025)
|
cystinuria
(MONDO_0009067)
|
Definitive
|
|
|
SLC7A9
(HGNC:11067)
|
cystinuria
(MONDO_0009067)
|
Definitive
|
|
|
SMN1
(HGNC:11117)
|
spinal muscular atrophy
(MONDO_0001516)
|
Definitive
|
|
|
SMN1
(HGNC:11117)
|
spinal muscular atrophy, type 1
(MONDO_0009669)
|
Definitive
|
|
|
SLC12A1
(HGNC:10910)
|
Bartter disease type 1
(MONDO_0100344)
|
Definitive
|
|
|
SON
(HGNC:11183)
|
ZTTK syndrome
(MONDO_0014936)
|
Definitive
|
|
|
SLC5A5
(HGNC:11040)
|
hypothyroidism due to iodide transport defect
(MONDO_0043103)
|
Definitive
|
|
|
SMN2
(HGNC:11118)
|
spinal muscular atrophy
(MONDO_0001516)
|
Strong
|
|
|
SOX5
(HGNC:11201)
|
Lamb-Shaffer syndrome
(MONDO_0014778)
|
Definitive
|
|
|
SLC9A6
(HGNC:11079)
|
Christianson syndrome
(MONDO_0010278)
|
Definitive
|
|
|
SLC34A2
(HGNC:11020)
|
pulmonary alveolar microlithiasis
(MONDO_0009928)
|
Strong
|
|
|
SPG11
(HGNC:11226)
|
hereditary spastic paraplegia 11
(MONDO_0011445)
|
Definitive
|
|
|
SORL1
(HGNC:11185)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
SNRPN
(HGNC:11164)
|
Prader-Willi syndrome
(MONDO_0008300)
|
Definitive
|
|
|
SLC40A1
(HGNC:10909)
|
hemochromatosis type 4
(MONDO_0011631)
|
Definitive
|
|
|
SPG11
(HGNC:11226)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Definitive
|
|
|
ATL1
(HGNC:11231)
|
hereditary spastic paraplegia 3A
(MONDO_0008437)
|
Definitive
|
|
|
BTD
(HGNC:1122)
|
biotinidase deficiency
(MONDO_0009665)
|
Definitive
|
|
|
SPOP
(HGNC:11254)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
ATL1
(HGNC:11231)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
SPAST
(HGNC:11233)
|
hereditary spastic paraplegia 4
(MONDO_0008438)
|
Definitive
|
|
|
STIM1
(HGNC:11386)
|
Stormorken syndrome
(MONDO_0008497)
|
Strong
|
|
|
CDKL5
(HGNC:11411)
|
developmental and epileptic encephalopathy, 2
(MONDO_0010396)
|
Definitive
|
|
|
CDKL5
(HGNC:11411)
|
Rett syndrome
(MONDO_0010726)
|
Definitive
|
|
|
SPAST
(HGNC:11233)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Definitive
|
|
|
SPTB
(HGNC:11274)
|
hereditary elliptocytosis
(MONDO_0017319)
|
Definitive
|
|
|
STX11
(HGNC:11429)
|
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
|
Definitive
|
|
|
STXBP2
(HGNC:11445)
|
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
|
Definitive
|
|
|
SYNGAP1
(HGNC:11497)
|
autism spectrum disorder
(MONDO_0005258)
|
Definitive
|
|
|
TACSTD2
(HGNC:11530)
|
gelatinous drop-like corneal dystrophy
(MONDO_0008777)
|
Definitive
|
|
|
TAFAZZIN
(HGNC:11577)
|
Barth syndrome
(MONDO_0010543)
|
Definitive
|
|
|
SPR
(HGNC:11257)
|
dopa-responsive dystonia due to sepiapterin reductase deficiency
(MONDO_0012994)
|
Definitive
|
|
|
SPTA1
(HGNC:11272)
|
pyropoikilocytosis, hereditary
(MONDO_0009948)
|
Strong
|
|
|
SUOX
(HGNC:11460)
|
isolated sulfite oxidase deficiency
(MONDO_0010089)
|
Definitive
|
|
|
TBK1
(HGNC:11584)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Definitive
|
|
|
SPTA1
(HGNC:11272)
|
hereditary elliptocytosis
(MONDO_0017319)
|
Definitive
|
|
|
TBK1
(HGNC:11584)
|
frontotemporal dementia
(MONDO_0017276)
|
Definitive
|
|
|
TBX3
(HGNC:11602)
|
ulnar-mammary syndrome
(MONDO_0008411)
|
Definitive
|
|
|
TCIRG1
(HGNC:11647)
|
osteopetrosis
(MONDO_0017198)
|
Strong
|
|
|
TCN2
(HGNC:11653)
|
transcobalamin II deficiency
(MONDO_0010149)
|
Definitive
|
|
|
TCIRG1
(HGNC:11647)
|
autosomal recessive osteopetrosis
(MONDO_0019026)
|
Definitive
|
|
|
TCOF1
(HGNC:11654)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Definitive
|
|
|
TFAP2A
(HGNC:11742)
|
branchiooculofacial syndrome
(MONDO_0007235)
|
Definitive
|
|
|
TFR2
(HGNC:11762)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Strong
|
|
|
TGFB2
(HGNC:11768)
|
Loeys-Dietz syndrome
(MONDO_0018954)
|
Strong
|
|
|
TFE3
(HGNC:11752)
|
neoplasm with perivascular epithelioid cell differentiation
(MONDO_0006359)
|
Strong
|
|
|
TGM1
(HGNC:11777)
|
autosomal recessive congenital ichthyosis
(MONDO_0017265)
|
Definitive
|
|
|
TGM1
(HGNC:11777)
|
lamellar ichthyosis
(MONDO_0017778)
|
Definitive
|
|
|
THBD
(HGNC:11784)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Definitive
|
|
|
THRA
(HGNC:11796)
|
thyroid hormone resistance syndrome
(MONDO_0001328)
|
Strong
|
|
|
TINF2
(HGNC:11824)
|
dyskeratosis congenita
(MONDO_0015780)
|
Definitive
|
|
|
TK2
(HGNC:11831)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Definitive
|
|
|
TBX1
(HGNC:11592)
|
DiGeorge syndrome
(MONDO_0008564)
|
Strong
|
|
|
CD40LG
(HGNC:11935)
|
hyper-IgM syndrome
(MONDO_0003947)
|
Definitive
|
|
|
TNNI3
(HGNC:11947)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Definitive
|
|
|
TNNI3
(HGNC:11947)
|
restrictive cardiomyopathy
(MONDO_0005201)
|
Strong
|
|
|
STAG2
(HGNC:11355)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
SPTA1
(HGNC:11272)
|
hereditary spherocytosis
(MONDO_0019350)
|
Strong
|
|
|
SPTBN2
(HGNC:11276)
|
spinocerebellar ataxia type 5
(MONDO_0010848)
|
Strong
|
|
|
SPTB
(HGNC:11274)
|
hereditary spherocytosis
(MONDO_0019350)
|
Strong
|
|
|
SURF1
(HGNC:11474)
|
Leigh syndrome
(MONDO_0009723)
|
Definitive
|
|
|
SPTLC1
(HGNC:11277)
|
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
|
Definitive
|
|
|
STIM1
(HGNC:11386)
|
tubular aggregate myopathy
(MONDO_0008051)
|
Definitive
|
|
|
TPM1
(HGNC:12010)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
TPM1
(HGNC:12010)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
TPM3
(HGNC:12012)
|
cap myopathy
(MONDO_0015753)
|
Strong
|
|
|
SERPING1
(HGNC:1228)
|
hereditary angioedema
(MONDO_0019623)
|
Definitive
|
|
|
TPM3
(HGNC:12012)
|
nemaline myopathy
(MONDO_0018958)
|
Strong
|
|
|
TRPC6
(HGNC:12338)
|
focal segmental glomerulosclerosis
(MONDO_0100313)
|
Strong
|
|
|
TRPS1
(HGNC:12340)
|
trichorhinophalangeal syndrome type I
(MONDO_0008596)
|
Definitive
|
|
|
TRPS1
(HGNC:12340)
|
trichorhinophalangeal syndrome
(MONDO_0017951)
|
Definitive
|
|
|
TTPA
(HGNC:12404)
|
familial isolated deficiency of vitamin E
(MONDO_0010188)
|
Definitive
|
|
|
TWIST1
(HGNC:12428)
|
Saethre-Chotzen syndrome
(MONDO_0007042)
|
Definitive
|
|
|
TWIST1
(HGNC:12428)
|
craniosynostosis
(MONDO_0015469)
|
Definitive
|
|
|
UBE3A
(HGNC:12496)
|
Angelman syndrome
(MONDO_0007113)
|
Definitive
|
|
|
UBA1
(HGNC:12469)
|
VEXAS syndrome
(MONDO_0026777)
|
Strong
|
|
|
UROD
(HGNC:12591)
|
porphyria cutanea tarda
(MONDO_0015104)
|
Definitive
|
|
|
TNXB
(HGNC:11976)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Definitive
|
|
|
TIMP3
(HGNC:11822)
|
Sorsby fundus dystrophy
(MONDO_0007640)
|
Strong
|
|
|
UROD
(HGNC:12591)
|
hepatoerythropoietic porphyria
(MONDO_0019799)
|
Definitive
|
|
|
CD40LG
(HGNC:11935)
|
hyper-IgM syndrome type 1
(MONDO_0010626)
|
Definitive
|
|
|
UROS
(HGNC:12592)
|
cutaneous porphyria
(MONDO_0009902)
|
Definitive
|
|
|
TNNT1
(HGNC:11948)
|
nemaline myopathy
(MONDO_0018958)
|
Strong
|
|
|
VPS33B
(HGNC:12712)
|
arthrogryposis-renal dysfunction-cholestasis syndrome
(MONDO_0017123)
|
Definitive
|
|
|
USP8
(HGNC:12631)
|
Cushing disease due to pituitary adenoma
(MONDO_0009050)
|
Strong
|
|
|
NSD2
(HGNC:12766)
|
Wolf-Hirschhorn syndrome
(MONDO_0008684)
|
Definitive
|
|
|
CCN6
(HGNC:12771)
|
progressive pseudorheumatoid arthropathy of childhood
(MONDO_0008827)
|
Definitive
|
|
|
XK
(HGNC:12811)
|
McLeod neuroacanthocytosis syndrome
(MONDO_0018945)
|
Definitive
|
|
|
XDH
(HGNC:12805)
|
xanthinuria type I
(MONDO_0010209)
|
Strong
|
|
|
ZMPSTE24
(HGNC:12877)
|
mandibuloacral dysplasia
(MONDO_0016584)
|
Strong
|
|
|
ZMPSTE24
(HGNC:12877)
|
restrictive dermopathy
(MONDO_0031213)
|
Definitive
|
|
|
WNT1
(HGNC:12774)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Definitive
|
|
|
KAT6A
(HGNC:13013)
|
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
(MONDO_0014558)
|
Definitive
|
|
|
ACTA2
(HGNC:130)
|
thoracic aortic aneurysm
(MONDO_0005396)
|
Definitive
|
|
|
ACTA2
(HGNC:130)
|
multisystemic smooth muscle dysfunction syndrome
(MONDO_0013452)
|
Definitive
|
|
|
EML4
(HGNC:1316)
|
non-small cell lung carcinoma
(MONDO_0005233)
|
Definitive
|
|
|
EML4
(HGNC:1316)
|
lung adenocarcinoma
(MONDO_0005061)
|
Definitive
|
|
|
EML4
(HGNC:1316)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
HDAC8
(HGNC:13315)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Strong
|
|
|
ATP2C1
(HGNC:13211)
|
Hailey-Hailey disease
(MONDO_0008218)
|
Definitive
|
|
|
MCOLN1
(HGNC:13356)
|
mucolipidosis type IV
(MONDO_0009653)
|
Definitive
|
|
|
SAMD9
(HGNC:1348)
|
MIRAGE syndrome
(MONDO_0014888)
|
Definitive
|
|
|
ACTB
(HGNC:132)
|
Baraitser-Winter cerebrofrontofacial syndrome
(MONDO_0017579)
|
Definitive
|
|
|
NSDHL
(HGNC:13398)
|
CHILD syndrome
(MONDO_0010621)
|
Definitive
|
|
|
SAMD9L
(HGNC:1349)
|
ataxia-pancytopenia syndrome
(MONDO_0008038)
|
Strong
|
|
|
FBXO7
(HGNC:13586)
|
parkinsonian-pyramidal syndrome
(MONDO_0009830)
|
Strong
|
|
|
VPS35
(HGNC:13487)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
AAAS
(HGNC:13666)
|
triple-A syndrome
(MONDO_0009279)
|
Definitive
|
|
|
FBXO7
(HGNC:13586)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
ABCG5
(HGNC:13886)
|
familial hypercholesterolemia
(MONDO_0005439)
|
Limited
|
|
|
FBXL4
(HGNC:13601)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Definitive
|
|
|
CACNA1D
(HGNC:1391)
|
primary aldosteronism
(MONDO_0001422)
|
Strong
|
|
|
ABCG8
(HGNC:13887)
|
sitosterolemia
(MONDO_0008863)
|
Definitive
|
|
|
CA2
(HGNC:1373)
|
autosomal recessive osteopetrosis 3
(MONDO_0009818)
|
Definitive
|
|
|
ABCG5
(HGNC:13886)
|
sitosterolemia
(MONDO_0008863)
|
Definitive
|
|
|
CACNA1H
(HGNC:1395)
|
primary aldosteronism
(MONDO_0001422)
|
Strong
|
|
|
SOST
(HGNC:13771)
|
sclerosteosis
(MONDO_0017838)
|
Strong
|
|
|
SLC25A20
(HGNC:1421)
|
carnitine-acylcarnitine translocase deficiency
(MONDO_0008918)
|
Definitive
|
|
|
SHANK3
(HGNC:14294)
|
Phelan-McDermid syndrome
(MONDO_0011652)
|
Definitive
|
|
|
EDARADD
(HGNC:14341)
|
ectodermal dysplasia syndrome
(MONDO_0019287)
|
Strong
|
|
|
ACTC1
(HGNC:143)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
CALM1
(HGNC:1442)
|
long QT syndrome
(MONDO_0002442)
|
Definitive
|
|
|
SHANK3
(HGNC:14294)
|
autism spectrum disorder
(MONDO_0005258)
|
Definitive
|
|
|
NPC2
(HGNC:14537)
|
Niemann-Pick disease type C
(MONDO_0018982)
|
Definitive
|
|
|
EDARADD
(HGNC:14341)
|
hypohidrotic ectodermal dysplasia
(MONDO_0016535)
|
Moderate
|
|
|
PINK1
(HGNC:14581)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
autosomal recessive congenital ichthyosis
(MONDO_0017265)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
autosomal recessive congenital ichthyosis 4B
(MONDO_0009443)
|
Definitive
|
|
|
NSD1
(HGNC:14234)
|
Sotos syndrome
(MONDO_0019349)
|
Definitive
|
|
|
CACNA1F
(HGNC:1393)
|
congenital stationary night blindness
(MONDO_0016293)
|
Definitive
|
|
|
RNF213
(HGNC:14539)
|
Moyamoya disease
(MONDO_0016820)
|
Definitive
|
|
|
ACTG2
(HGNC:145)
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
(MONDO_0025986)
|
Strong
|
|
|
ACTG1
(HGNC:144)
|
Baraitser-Winter cerebrofrontofacial syndrome
(MONDO_0017579)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
lamellar ichthyosis
(MONDO_0017778)
|
Definitive
|
|
|
ABCA12
(HGNC:14637)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Strong
|
|
|
CAPN3
(HGNC:1480)
|
autosomal recessive limb-girdle muscular dystrophy type 2A
(MONDO_0009675)
|
Definitive
|
|
|
ZEB2
(HGNC:14881)
|
Mowat-Wilson syndrome
(MONDO_0009341)
|
Definitive
|
|
|
CAPN3
(HGNC:1480)
|
limb-girdle muscular dystrophy
(MONDO_0016971)
|
Definitive
|
|
|
CBFB
(HGNC:1539)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
RUNX1T1
(HGNC:1535)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
CASQ2
(HGNC:1513)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Definitive
|
|
|
PRPF31
(HGNC:15446)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
SHOC2
(HGNC:15454)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
SHOC2
(HGNC:15454)
|
RASopathy
(MONDO_0021060)
|
Definitive
|
|
|
SPINK5
(HGNC:15464)
|
Netherton syndrome
(MONDO_0009735)
|
Definitive
|
|
|
MBTPS2
(HGNC:15455)
|
IFAP syndrome
(MONDO_0100212)
|
Strong
|
|
|
IL36RN
(HGNC:15561)
|
psoriasis 14, pustular
(MONDO_0013626)
|
Definitive
|
|
|
IL36RN
(HGNC:15561)
|
generalized pustular psoriasis
(MONDO_0100491)
|
Definitive
|
|
|
KRIT1
(HGNC:1573)
|
cerebral cavernous malformation
(MONDO_0000820)
|
Definitive
|
|
|
ADNP
(HGNC:15766)
|
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
(MONDO_0014379)
|
Definitive
|
|
|
ABHD12
(HGNC:15868)
|
PHARC syndrome
(MONDO_0012984)
|
Definitive
|
|
|
FERMT1
(HGNC:15889)
|
Kindler syndrome
(MONDO_0008260)
|
Definitive
|
|
|
PANK2
(HGNC:15894)
|
pantothenate kinase-associated neurodegeneration
(MONDO_0009319)
|
Definitive
|
|
|
PANK2
(HGNC:15894)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Definitive
|
|
|
SAMHD1
(HGNC:15925)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
RP1L1
(HGNC:15946)
|
occult macular dystrophy
(MONDO_0013316)
|
Strong
|
|
|
GDAP1
(HGNC:15968)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
APTX
(HGNC:15984)
|
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
(MONDO_0008842)
|
Definitive
|
|
|
PCNT
(HGNC:16068)
|
microcephalic osteodysplastic primordial dwarfism type II
(MONDO_0008872)
|
Definitive
|
|
|
SLC52A3
(HGNC:16187)
|
riboflavin transporter deficiency
(MONDO_0008891)
|
Definitive
|
|
|
SLC19A3
(HGNC:16266)
|
biotin-responsive basal ganglia disease
(MONDO_0011841)
|
Definitive
|
|
|
PNPLA6
(HGNC:16268)
|
ataxia-hypogonadism-choroidal dystrophy syndrome
(MONDO_0008980)
|
Strong
|
|
|
TRIM32
(HGNC:16380)
|
autosomal recessive limb-girdle muscular dystrophy type 2H
(MONDO_0009683)
|
Strong
|
|
|
PARK7
(HGNC:16369)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
CARD9
(HGNC:16391)
|
phaeohyphomycosis
(MONDO_0001867)
|
Strong
|
|
|
CARD14
(HGNC:16446)
|
pityriasis rubra pilaris
(MONDO_0100017)
|
Strong
|
|
|
CARD9
(HGNC:16391)
|
deep seated dermatophytosis
(MONDO_0021660)
|
Definitive
|
|
|
CARD9
(HGNC:16391)
|
predisposition to invasive fungal disease due to CARD9 deficiency
(MONDO_0008905)
|
Definitive
|
|
|
SUFU
(HGNC:16466)
|
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
|
Definitive
|
|
|
TMPRSS6
(HGNC:16517)
|
IRIDA syndrome
(MONDO_0008788)
|
Definitive
|
|
|
IFITM5
(HGNC:16644)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Definitive
|
|
|
SLC45A2
(HGNC:16472)
|
oculocutaneous albinism
(MONDO_0018910)
|
Definitive
|
|
|
RAB39B
(HGNC:16499)
|
Parkinson disease
(MONDO_0005180)
|
Moderate
|
|
|
UBR1
(HGNC:16808)
|
Johanson-Blizzard syndrome
(MONDO_0009479)
|
Definitive
|
|
|
HCN4
(HGNC:16882)
|
sinoatrial node disorder
(MONDO_0000469)
|
Strong
|
|
|
HAX1
(HGNC:16915)
|
Kostmann syndrome
(MONDO_0012548)
|
Definitive
|
|
|
SRCAP
(HGNC:16974)
|
Floating-Harbor syndrome
(MONDO_0007621)
|
Definitive
|
|
|
CD79B
(HGNC:1699)
|
diffuse large B-cell lymphoma
(MONDO_0018905)
|
Strong
|
|
|
HAX1
(HGNC:16915)
|
severe congenital neutropenia
(MONDO_0018542)
|
Definitive
|
|
|
CFHR3
(HGNC:16980)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
MLC1
(HGNC:17082)
|
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
|
Definitive
|
|
|
RAB3GAP1
(HGNC:17063)
|
Warburg micro syndrome
(MONDO_0016649)
|
Strong
|
|
|
SLC39A4
(HGNC:17129)
|
acrodermatitis enteropathica
(MONDO_0008713)
|
Definitive
|
|
|
ALPK3
(HGNC:17574)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
ACVR1
(HGNC:171)
|
fibrodysplasia ossificans progressiva
(MONDO_0007606)
|
Definitive
|
|
|
NGLY1
(HGNC:17646)
|
congenital disorder of deglycosylation
(MONDO_0031376)
|
Definitive
|
|
|
KAT6B
(HGNC:17582)
|
blepharophimosis - intellectual disability syndrome, SBBYS type
(MONDO_0011365)
|
Definitive
|
|
|
ACVRL1
(HGNC:175)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
TREM2
(HGNC:17761)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
TREM2
(HGNC:17761)
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
(MONDO_0009092)
|
Definitive
|
|
|
ACVRL1
(HGNC:175)
|
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
|
Definitive
|
|
|
PORCN
(HGNC:17652)
|
focal dermal hypoplasia
(MONDO_0010592)
|
Definitive
|
|
|
CDKN1C
(HGNC:1786)
|
IMAGe syndrome
(MONDO_0013873)
|
Strong
|
|
|
CDKN1C
(HGNC:1786)
|
Beckwith-Wiedemann syndrome
(MONDO_0007534)
|
Definitive
|
|
|
CDH3
(HGNC:1762)
|
congenital hypotrichosis with juvenile macular dystrophy
(MONDO_0011107)
|
Definitive
|
|
|
EXOSC3
(HGNC:17944)
|
pontocerebellar hypoplasia type 1B
(MONDO_0013853)
|
Strong
|
|
|
KAT6B
(HGNC:17582)
|
genitopatellar syndrome
(MONDO_0011640)
|
Definitive
|
|
|
TREM2
(HGNC:17761)
|
frontotemporal dementia
(MONDO_0017276)
|
Moderate
|
|
|
IRAK4
(HGNC:17967)
|
immunodeficiency 67
(MONDO_0011888)
|
Strong
|
|
|
TRPM6
(HGNC:17995)
|
intestinal hypomagnesemia 1
(MONDO_0011176)
|
Definitive
|
|
|
SLC22A12
(HGNC:17989)
|
hypouricemia, renal 1
(MONDO_0020728)
|
Strong
|
|
|
NAGS
(HGNC:17996)
|
urea cycle disorder
(MONDO_0004739)
|
Definitive
|
|
|
NAGS
(HGNC:17996)
|
hyperammonemia due to N-acetylglutamate synthase deficiency
(MONDO_0009377)
|
Definitive
|
|
|
CDSN
(HGNC:1802)
|
peeling skin syndrome 1
(MONDO_0024548)
|
Moderate
|
|
|
MFRP
(HGNC:18121)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
TNFRSF13B
(HGNC:18153)
|
common variable immunodeficiency
(MONDO_0015517)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
Bruck syndrome
(MONDO_0017195)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Strong
|
|
|
ADA2
(HGNC:1839)
|
vasculitis due to ADA2 deficiency
(MONDO_0014306)
|
Definitive
|
|
|
ADA2
(HGNC:1839)
|
polyarteritis nodosa
(MONDO_0019170)
|
Strong
|
|
|
ADA2
(HGNC:1839)
|
deficiency of adenosine deaminase 2
(MONDO_0100317)
|
Strong
|
|
|
DEPDC5
(HGNC:18423)
|
focal epilepsy
(MONDO_0005384)
|
Strong
|
|
|
LDLRAP1
(HGNC:18640)
|
hypercholesterolemia, familial, 4
(MONDO_0011374)
|
Definitive
|
|
|
DEPDC5
(HGNC:18423)
|
familial focal epilepsy with variable foci
(MONDO_0020310)
|
Definitive
|
|
|
DDX41
(HGNC:18674)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
ADA
(HGNC:186)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
ADA
(HGNC:186)
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
(MONDO_0007064)
|
Definitive
|
|
|
NAA10
(HGNC:18704)
|
Ogden syndrome
(MONDO_0010457)
|
Definitive
|
|
|
KCNT1
(HGNC:18865)
|
epilepsy of infancy with migrating focal seizures
(MONDO_0100025)
|
Strong
|
|
|
ASPM
(HGNC:19048)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Definitive
|
|
|
VPS13A
(HGNC:1908)
|
chorea-acanthocytosis
(MONDO_0008695)
|
Strong
|
|
|
NPHP4
(HGNC:19104)
|
nephronophthisis
(MONDO_0019005)
|
Definitive
|
|
|
POMGNT1
(HGNC:19139)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Definitive
|
|
|
DOCK6
(HGNC:19189)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Definitive
|
|
|
DOCK8
(HGNC:19191)
|
combined immunodeficiency due to DOCK8 deficiency
(MONDO_0009478)
|
Definitive
|
|
|
DOCK8
(HGNC:19191)
|
hyper-IgE syndrome
(MONDO_0018037)
|
Strong
|
|
|
POGZ
(HGNC:18801)
|
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
(MONDO_0014606)
|
Strong
|
|
|
CHM
(HGNC:1940)
|
choroideremia
(MONDO_0010557)
|
Definitive
|
|
|
CHRNA1
(HGNC:1955)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
CHRNB2
(HGNC:1962)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Strong
|
|
|
CHRNE
(HGNC:1966)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
POMT2
(HGNC:19743)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
EVC2
(HGNC:19747)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Strong
|
|
|
GPR143
(HGNC:20145)
|
X-linked recessive ocular albinism
(MONDO_0021019)
|
Definitive
|
|
|
CLCN1
(HGNC:2019)
|
myotonia congenita, autosomal dominant
(MONDO_0008055)
|
Definitive
|
|
|
CLCN5
(HGNC:2023)
|
Dent disease type 1
(MONDO_0010225)
|
Definitive
|
|
|
CLCN2
(HGNC:2020)
|
leukoencephalopathy with mild cerebellar ataxia and white matter edema
(MONDO_0014292)
|
Definitive
|
|
|
CLCN5
(HGNC:2023)
|
Dent disease
(MONDO_0015612)
|
Definitive
|
|
|
SPRED1
(HGNC:20249)
|
Legius syndrome
(MONDO_0012669)
|
Definitive
|
|
|
CLCN7
(HGNC:2025)
|
autosomal dominant osteopetrosis 2
(MONDO_0008156)
|
Definitive
|
|
|
CLCN7
(HGNC:2025)
|
osteopetrosis
(MONDO_0017198)
|
Definitive
|
|
|
CLCN7
(HGNC:2025)
|
autosomal recessive osteopetrosis
(MONDO_0019026)
|
Strong
|
|
|
CLCNKB
(HGNC:2027)
|
Gitelman syndrome
(MONDO_0009904)
|
Strong
|
|
|
CLCNKB
(HGNC:2027)
|
Bartter disease type 3
(MONDO_0011822)
|
Definitive
|
|
|
CLCNKB
(HGNC:2027)
|
Bartter syndrome
(MONDO_0015231)
|
Strong
|
|
|
SLC34A3
(HGNC:20305)
|
hereditary hypophosphatemic rickets with hypercalciuria
(MONDO_0009431)
|
Definitive
|
|
|
SUMF1
(HGNC:20376)
|
mucosulfatidosis
(MONDO_0010088)
|
Definitive
|
|
|
CLDN16
(HGNC:2037)
|
renal hypomagnesemia 3
(MONDO_0009550)
|
Definitive
|
|
|
L2HGDH
(HGNC:20499)
|
L-2-hydroxyglutaric aciduria
(MONDO_0009370)
|
Definitive
|
|
|
CLDN19
(HGNC:2040)
|
renal hypomagnesemia 3
(MONDO_0009550)
|
Strong
|
|
|
CLN3
(HGNC:2074)
|
neuronal ceroid lipofuscinosis 3
(MONDO_0008767)
|
Definitive
|
|
|
CLN3
(HGNC:2074)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
CLN5
(HGNC:2076)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Strong
|
|
|
TUBB4A
(HGNC:20774)
|
hypomyelinating leukodystrophy 6
(MONDO_0012905)
|
Definitive
|
|
|
CLN6
(HGNC:2077)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
SERAC1
(HGNC:21061)
|
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
(MONDO_0013875)
|
Definitive
|
|
|
FA2H
(HGNC:21197)
|
fatty acid hydroxylase-associated neurodegeneration
(MONDO_0017999)
|
Strong
|
|
|
DYM
(HGNC:21317)
|
Dyggve-Melchior-Clausen disease
(MONDO_0009130)
|
Definitive
|
|
|
ANKRD11
(HGNC:21316)
|
KBG syndrome
(MONDO_0007846)
|
Definitive
|
|
|
ABHD5
(HGNC:21396)
|
Dorfman-Chanarin disease
(MONDO_0010155)
|
Definitive
|
|
|
RARS2
(HGNC:21406)
|
pontocerebellar hypoplasia type 6
(MONDO_0012683)
|
Definitive
|
|
|
NHLRC1
(HGNC:21576)
|
Lafora disease
(MONDO_0009697)
|
Strong
|
|
|
CUL7
(HGNC:21024)
|
3-M syndrome
(MONDO_0007477)
|
Definitive
|
|
|
RFX6
(HGNC:21478)
|
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
(MONDO_0017400)
|
Definitive
|
|
|
AHI1
(HGNC:21575)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
TSPAN12
(HGNC:21641)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Definitive
|
|
|
CCM2
(HGNC:21708)
|
cerebral cavernous malformation
(MONDO_0000820)
|
Strong
|
|
|
BRAT1
(HGNC:21701)
|
neonatal-onset encephalopathy with rigidity and seizures
(MONDO_0013784)
|
Definitive
|
|
|
ANTXR2
(HGNC:21732)
|
hyaline fibromatosis syndrome
(MONDO_0009229)
|
Strong
|
|
|
ANTXR2
(HGNC:21732)
|
juvenile hyaline fibromatosis
(MONDO_0016071)
|
Definitive
|
|
|
ANTXR2
(HGNC:21732)
|
infantile systemic hyalinosis
(MONDO_0016331)
|
Definitive
|
|
|
COL10A1
(HGNC:2185)
|
Schmid metaphyseal chondrodysplasia
(MONDO_0007983)
|
Definitive
|
|
|
VPS13B
(HGNC:2183)
|
Cohen syndrome
(MONDO_0008999)
|
Definitive
|
|
|
COL11A2
(HGNC:2187)
|
Stickler syndrome
(MONDO_0019354)
|
Strong
|
|
|
COL18A1
(HGNC:2195)
|
Knobloch syndrome
(MONDO_0800166)
|
Definitive
|
|
|
COL5A1
(HGNC:2209)
|
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
|
Strong
|
|
|
COL5A1
(HGNC:2209)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Definitive
|
|
|
COL17A1
(HGNC:2194)
|
generalized junctional epidermolysis bullosa non-Herlitz type
(MONDO_0019307)
|
Strong
|
|
|
COL17A1
(HGNC:2194)
|
junctional epidermolysis bullosa
(MONDO_0017612)
|
Definitive
|
|
|
COL11A2
(HGNC:2187)
|
otospondylomegaepiphyseal dysplasia
(MONDO_0008975)
|
Strong
|
|
|
COL4A6
(HGNC:2208)
|
Alport syndrome
(MONDO_0018965)
|
Limited
|
|
|
COL6A1
(HGNC:2211)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Definitive
|
|
|
COL6A2
(HGNC:2212)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Definitive
|
|
|
COL6A2
(HGNC:2212)
|
Bethlem myopathy
(MONDO_0008029)
|
Definitive
|
|
|
FAM20C
(HGNC:22140)
|
lethal osteosclerotic bone dysplasia
(MONDO_0009821)
|
Definitive
|
|
|
COL6A3
(HGNC:2213)
|
Bethlem myopathy
(MONDO_0008029)
|
Strong
|
|
|
COL6A3
(HGNC:2213)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Strong
|
|
|
ADAR
(HGNC:225)
|
dyschromatosis symmetrica hereditaria
(MONDO_0007483)
|
Definitive
|
|
|
CP
(HGNC:2295)
|
aceruloplasminemia
(MONDO_0011426)
|
Definitive
|
|
|
ZRSR2
(HGNC:23019)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Strong
|
|
|
GNPTG
(HGNC:23026)
|
GNPTG-mucolipidosis
(MONDO_0009652)
|
Strong
|
|
|
SLC29A3
(HGNC:23096)
|
H syndrome
(MONDO_0011273)
|
Definitive
|
|
|
UNC13D
(HGNC:23147)
|
hemophagocytic syndrome
(MONDO_0015540)
|
Strong
|
|
|
UNC13D
(HGNC:23147)
|
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
|
Definitive
|
|
|
CYP4V2
(HGNC:23198)
|
Bietti crystalline corneoretinal dystrophy
(MONDO_0008865)
|
Definitive
|
|
|
KEAP1
(HGNC:23177)
|
non-small cell lung carcinoma
(MONDO_0005233)
|
Strong
|
|
|
ZNF469
(HGNC:23216)
|
brittle cornea syndrome 1
(MONDO_0024543)
|
Definitive
|
|
|
ALG6
(HGNC:23157)
|
ALG6-congenital disorder of glycosylation 1C
(MONDO_0011291)
|
Definitive
|
|
|
COL6A1
(HGNC:2211)
|
Bethlem myopathy
(MONDO_0008029)
|
Definitive
|
|
|
COLQ
(HGNC:2226)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Definitive
|
|
|
COMP
(HGNC:2227)
|
multiple epiphyseal dysplasia
(MONDO_0016648)
|
Definitive
|
|
|
COMP
(HGNC:2227)
|
pseudoachondroplasia
(MONDO_0008322)
|
Definitive
|
|
|
ETHE1
(HGNC:23287)
|
ethylmalonic encephalopathy
(MONDO_0011229)
|
Strong
|
|
|
CPT1A
(HGNC:2328)
|
carnitine palmitoyl transferase 1A deficiency
(MONDO_0009705)
|
Strong
|
|
|
CPT2
(HGNC:2330)
|
carnitine palmitoyltransferase II deficiency
(MONDO_0015515)
|
Strong
|
|
|
GNE
(HGNC:23657)
|
GNE myopathy
(MONDO_0011603)
|
Definitive
|
|
|
CPT2
(HGNC:2330)
|
metabolic myopathy
(MONDO_0020123)
|
Definitive
|
|
|
INF2
(HGNC:23791)
|
focal segmental glomerulosclerosis
(MONDO_0100313)
|
Definitive
|
|
|
CRX
(HGNC:2383)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
CRX
(HGNC:2383)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
WDR62
(HGNC:24502)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Definitive
|
|
|
WDR62
(HGNC:24502)
|
isolated congenital microcephaly
(MONDO_0016056)
|
Definitive
|
|
|
CHMP2B
(HGNC:24537)
|
frontotemporal dementia
(MONDO_0017276)
|
Moderate
|
|
|
CSNK2A1
(HGNC:2457)
|
Okur-Chung neurodevelopmental syndrome
(MONDO_0014893)
|
Definitive
|
|
|
VCAN
(HGNC:2464)
|
Wagner disease
(MONDO_0007740)
|
Definitive
|
|
|
EHMT1
(HGNC:24650)
|
Kleefstra syndrome
(MONDO_0012455)
|
Definitive
|
|
|
FLVCR1
(HGNC:24682)
|
posterior column ataxia-retinitis pigmentosa syndrome
(MONDO_0012177)
|
Strong
|
|
|
CSTB
(HGNC:2482)
|
Unverricht-Lundborg syndrome
(MONDO_0009698)
|
Definitive
|
|
|
G6PC3
(HGNC:24861)
|
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
(MONDO_0012930)
|
Definitive
|
|
|
GPIHBP1
(HGNC:24945)
|
familial lipoprotein lipase deficiency
(MONDO_0009387)
|
Definitive
|
|
|
CTNS
(HGNC:2518)
|
cystinosis
(MONDO_0016239)
|
Definitive
|
|
|
CTNS
(HGNC:2518)
|
nephropathic cystinosis
(MONDO_0100151)
|
Definitive
|
|
|
CTSC
(HGNC:2528)
|
Papillon-Lefevre disease
(MONDO_0009490)
|
Definitive
|
|
|
AHDC1
(HGNC:25230)
|
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
(MONDO_0014358)
|
Definitive
|
|
|
CTSK
(HGNC:2536)
|
pycnodysostosis
(MONDO_0009940)
|
Strong
|
|
|
CTSC
(HGNC:2528)
|
Haim-Munk syndrome
(MONDO_0009491)
|
Strong
|
|
|
TANGO2
(HGNC:25439)
|
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
(MONDO_0018820)
|
Definitive
|
|
|
C19orf12
(HGNC:25443)
|
neurodegeneration with brain iron accumulation 4
(MONDO_0013674)
|
Definitive
|
|
|
DARS2
(HGNC:25538)
|
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
(MONDO_0012622)
|
Definitive
|
|
|
C19orf12
(HGNC:25443)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Strong
|
|
|
CUL3
(HGNC:2553)
|
pseudohypoaldosteronism type 2
(MONDO_0019162)
|
Definitive
|
|
|
BCORL1
(HGNC:25657)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
FANCI GENE
(HGNC:25568)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
ARMC5
(HGNC:25781)
|
Cushing syndrome due to macronodular adrenal hyperplasia
(MONDO_0009049)
|
Definitive
|
|
|
ARMC5
(HGNC:25781)
|
Cushing syndrome
(MONDO_0018912)
|
Strong
|
|
|
DCAF17
(HGNC:25784)
|
Woodhouse-Sakati syndrome
(MONDO_0009419)
|
Definitive
|
|
|
CYBB
(HGNC:2578)
|
granulomatous disease, chronic, X-linked
(MONDO_0010600)
|
Definitive
|
|
|
CYBB
(HGNC:2578)
|
chronic granulomatous disease
(MONDO_0018305)
|
Definitive
|
|
|
CPLANE1
(HGNC:25801)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
CYLD
(HGNC:2584)
|
familial cylindromatosis
(MONDO_0007565)
|
Definitive
|
|
|
CYLD
(HGNC:2584)
|
Brooke-Spiegler syndrome
(MONDO_0011512)
|
Definitive
|
|
|
TMEM127
(HGNC:26038)
|
paraganglioma
(MONDO_0000448)
|
Strong
|
|
|
SDHAF2
(HGNC:26034)
|
paraganglioma
(MONDO_0000448)
|
Moderate
|
|
|
TMEM127
(HGNC:26038)
|
pheochromocytoma
(MONDO_0008233)
|
Strong
|
|
|
CYP27A1
(HGNC:2605)
|
cerebrotendinous xanthomatosis
(MONDO_0008948)
|
Strong
|
|
|
CTC1
(HGNC:26169)
|
Coats plus syndrome
(MONDO_0012815)
|
Definitive
|
|
|
BBS10
(HGNC:26291)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
HGSNAT
(HGNC:26527)
|
mucopolysaccharidosis type 3C
(MONDO_0009657)
|
Strong
|
|
|
DOK7
(HGNC:26594)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Definitive
|
|
|
DCX
(HGNC:2714)
|
lissencephaly spectrum disorders
(MONDO_0018838)
|
Definitive
|
|
|
AMER1
(HGNC:26837)
|
osteopathia striata with cranial sclerosis
(MONDO_0010310)
|
Definitive
|
|
|
DDC
(HGNC:2719)
|
aromatic L-amino acid decarboxylase deficiency
(MONDO_0012084)
|
Definitive
|
|
|
DCX
(HGNC:2714)
|
subcortical band heterotopia
(MONDO_0020491)
|
Definitive
|
|
|
RBM20
(HGNC:27424)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Definitive
|
|
|
ESCO2
(HGNC:27230)
|
Roberts-SC phocomelia syndrome
(MONDO_0100253)
|
Definitive
|
|
|
STING1
(HGNC:27962)
|
STING-associated vasculopathy with onset in infancy
(MONDO_0014405)
|
Definitive
|
|
|
MFSD8
(HGNC:28486)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
DHH
(HGNC:2865)
|
disorder of sexual differentiation
(MONDO_0002145)
|
Strong
|
|
|
DGKE
(HGNC:2852)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Definitive
|
|
|
CYB5R3
(HGNC:2873)
|
methemoglobinemia
(MONDO_0001117)
|
Definitive
|
|
|
NIPBL
(HGNC:28862)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Definitive
|
|
|
LEMD3
(HGNC:28887)
|
Buschke-Ollendorff syndrome
(MONDO_0008157)
|
Strong
|
|
|
DKC1
(HGNC:2890)
|
dyskeratosis congenita
(MONDO_0015780)
|
Definitive
|
|
|
LEMD3
(HGNC:28887)
|
osteopoikilosis
(MONDO_0001414)
|
Definitive
|
|
|
DKC1
(HGNC:2890)
|
dyskeratosis congenita, X-linked
(MONDO_0010584)
|
Definitive
|
|
|
DKC1
(HGNC:2890)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Strong
|
|
|
WDR45
(HGNC:28912)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Definitive
|
|
|
WDR45
(HGNC:28912)
|
neurodegeneration with brain iron accumulation 5
(MONDO_0010476)
|
Strong
|
|
|
EDAR
(HGNC:2895)
|
hypohidrotic ectodermal dysplasia
(MONDO_0016535)
|
Definitive
|
|
|
DLD
(HGNC:2898)
|
pyruvate dehydrogenase E3 deficiency
(MONDO_0009529)
|
Definitive
|
|
|
PIEZO1
(HGNC:28993)
|
dehydrated hereditary stomatocytosis
(MONDO_0017910)
|
Definitive
|
|
|
IQSEC2
(HGNC:29059)
|
intellectual disability
(MONDO_0001071)
|
Definitive
|
|
|
IFT140
(HGNC:29077)
|
short-rib thoracic dysplasia 9 with or without polydactyly
(MONDO_0009964)
|
Definitive
|
|
|
DLK1
(HGNC:2907)
|
central precocious puberty
(MONDO_0019165)
|
Definitive
|
|
|
FAN1
(HGNC:29170)
|
karyomegalic interstitial nephritis
(MONDO_0013898)
|
Strong
|
|
|
ADSL
(HGNC:291)
|
adenylosuccinate lyase deficiency
(MONDO_0007068)
|
Definitive
|
|
|
TBC1D24
(HGNC:29203)
|
familial infantile myoclonic epilepsy
(MONDO_0011506)
|
Strong
|
|
|
TBC1D24
(HGNC:29203)
|
DOORS syndrome
(MONDO_0009079)
|
Strong
|
|
|
WDR35
(HGNC:29250)
|
cranioectodermal dysplasia
(MONDO_0009032)
|
Strong
|
|
|
CC2D2A
(HGNC:29253)
|
Joubert syndrome
(MONDO_0018772)
|
Definitive
|
|
|
EPG5
(HGNC:29331)
|
Vici syndrome
(MONDO_0009452)
|
Strong
|
|
|
DMPK
(HGNC:2933)
|
myotonic dystrophy type 1
(MONDO_0008056)
|
Definitive
|
|
|
DMPK
(HGNC:2933)
|
myotonic dystrophy
(MONDO_0016107)
|
Strong
|
|
|
ASXL3
(HGNC:29357)
|
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
(MONDO_0014205)
|
Definitive
|
|
|
SH3TC2
(HGNC:29427)
|
Charcot-Marie-Tooth disease type 4C
(MONDO_0011113)
|
Definitive
|
|
|
SH3TC2
(HGNC:29427)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Definitive
|
|
|
DNAH5
(HGNC:2950)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
DNAH11
(HGNC:2942)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
DYNC2H1
(HGNC:2962)
|
asphyxiating thoracic dystrophy 3
(MONDO_0013127)
|
Strong
|
|
|
GNPTAB
(HGNC:29670)
|
mucolipidosis type II
(MONDO_0009650)
|
Definitive
|
|
|
DNM2
(HGNC:2974)
|
autosomal dominant centronuclear myopathy
(MONDO_0008048)
|
Strong
|
|
|
DNM2
(HGNC:2974)
|
centronuclear myopathy
(MONDO_0018947)
|
Strong
|
|
|
BBS9
(HGNC:30000)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
POLR3A
(HGNC:30074)
|
Wiedemann-Rautenstrauch syndrome
(MONDO_0009910)
|
Strong
|
|
|
POLR3A
(HGNC:30074)
|
leukodystrophy
(MONDO_0019046)
|
Definitive
|
|
|
SLC26A3
(HGNC:3018)
|
Bartter syndrome
(MONDO_0015231)
|
Refuted
|
|
|
SLC26A3
(HGNC:3018)
|
congenital secretory chloride diarrhea 1
(MONDO_0008964)
|
Definitive
|
|
|
SLC52A2
(HGNC:30224)
|
riboflavin transporter deficiency
(MONDO_0008891)
|
Definitive
|
|
|
ATN1
(HGNC:3033)
|
dentatorubral-pallidoluysian atrophy
(MONDO_0007435)
|
Definitive
|
|
|
DSC2
(HGNC:3036)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Definitive
|
|
|
DSG2
(HGNC:3049)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Definitive
|
|
|
SLC46A1
(HGNC:30521)
|
hereditary folate malabsorption
(MONDO_0009238)
|
Definitive
|
|
|
DSPP
(HGNC:3054)
|
dentinogenesis imperfecta
(MONDO_0018849)
|
Definitive
|
|
|
STRA6
(HGNC:30650)
|
Matthew-Wood syndrome
(MONDO_0011010)
|
Definitive
|
|
|
PNPLA2
(HGNC:30802)
|
neutral lipid storage myopathy
(MONDO_0012545)
|
Definitive
|
|
|
PNPLA2
(HGNC:30802)
|
triglyceride deposit cardiomyovasculopathy
(MONDO_0035423)
|
Strong
|
|
|
TRAPPC9
(HGNC:30832)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
EFTUD2
(HGNC:30858)
|
mandibulofacial dysostosis-microcephaly syndrome
(MONDO_0012516)
|
Definitive
|
|
|
DYRK1A
(HGNC:3091)
|
DYRK1A-related intellectual disability syndrome
(MONDO_0013578)
|
Definitive
|
|
|
ECEL1
(HGNC:3147)
|
distal arthrogryposis type 5D
(MONDO_0014028)
|
Definitive
|
|
|
TYMP
(HGNC:3148)
|
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
|
Definitive
|
|
|
ECHS1
(HGNC:3151)
|
Leigh syndrome
(MONDO_0009723)
|
Definitive
|
|
|
EDA
(HGNC:3157)
|
X-linked hypohidrotic ectodermal dysplasia
(MONDO_0010585)
|
Definitive
|
|
|
EDA
(HGNC:3157)
|
hypohidrotic ectodermal dysplasia
(MONDO_0016535)
|
Definitive
|
|
|
ECM1
(HGNC:3153)
|
lipoid proteinosis
(MONDO_0009530)
|
Definitive
|
|
|
EDNRB
(HGNC:3180)
|
Waardenburg syndrome type 4A
(MONDO_0010192)
|
Definitive
|
|
|
EDA
(HGNC:3157)
|
ectodermal dysplasia syndrome
(MONDO_0019287)
|
Strong
|
|
|
EDNRB
(HGNC:3180)
|
Waardenburg syndrome
(MONDO_0018094)
|
Strong
|
|
|
EDNRB
(HGNC:3180)
|
Hirschsprung disease
(MONDO_0018309)
|
Strong
|
|
|
AGL
(HGNC:321)
|
glycogen storage disease III
(MONDO_0009291)
|
Definitive
|
|
|
EFNB1
(HGNC:3226)
|
craniofrontonasal syndrome
(MONDO_0010570)
|
Definitive
|
|
|
EIF1AX
(HGNC:3250)
|
uveal melanoma
(MONDO_0006486)
|
Strong
|
|
|
EIF2AK3
(HGNC:3255)
|
Wolcott-Rallison syndrome
(MONDO_0009192)
|
Definitive
|
|
|
EIF2B2
(HGNC:3258)
|
leukoencephalopathy with vanishing white matter
(MONDO_0800448)
|
Strong
|
|
|
AGPAT2
(HGNC:325)
|
congenital generalized lipodystrophy
(MONDO_0006536)
|
Strong
|
|
|
EIF2B3
(HGNC:3259)
|
leukoencephalopathy with vanishing white matter
(MONDO_0800448)
|
Definitive
|
|
|
EIF2B5
(HGNC:3261)
|
leukoencephalopathy with vanishing white matter
(MONDO_0800448)
|
Definitive
|
|
|
AGRN
(HGNC:329)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
EMD
(HGNC:3331)
|
Emery-Dreifuss muscular dystrophy
(MONDO_0016830)
|
Definitive
|
|
|
EPM2A
(HGNC:3413)
|
Lafora disease
(MONDO_0009697)
|
Definitive
|
|
|
ENG
(HGNC:3349)
|
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
|
Definitive
|
|
|
AGXT
(HGNC:341)
|
primary hyperoxaluria type 1
(MONDO_0009823)
|
Definitive
|
|
|
ERCC8
(HGNC:3439)
|
Cockayne syndrome
(MONDO_0016006)
|
Definitive
|
|
|
AHCY
(HGNC:343)
|
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
(MONDO_0013404)
|
Strong
|
|
|
ERG
(HGNC:3446)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
ETFA
(HGNC:3481)
|
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
|
Definitive
|
|
|
ETFDH
(HGNC:3483)
|
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
|
Strong
|
|
|
EVC
(HGNC:3497)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Definitive
|
|
|
EXT1
(HGNC:3512)
|
hereditary multiple osteochondromas
(MONDO_0005508)
|
Definitive
|
|
|
MECOM
(HGNC:3498)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
EXT1
(HGNC:3512)
|
trichorhinophalangeal syndrome type II
(MONDO_0007874)
|
Strong
|
|
|
EXT2
(HGNC:3513)
|
hereditary multiple osteochondromas
(MONDO_0005508)
|
Definitive
|
|
|
EYA1
(HGNC:3519)
|
branchio-oto-renal syndrome
(MONDO_0007029)
|
Definitive
|
|
|
EYA1
(HGNC:3519)
|
branchiootic syndrome
(MONDO_0018878)
|
Strong
|
|
|
F10
(HGNC:3528)
|
factor X deficiency
(MONDO_0002247)
|
Definitive
|
|
|
F10
(HGNC:3528)
|
congenital factor X deficiency
(MONDO_0009212)
|
Definitive
|
|
|
F12
(HGNC:3530)
|
hereditary angioedema
(MONDO_0019623)
|
Strong
|
|
|
F13A1
(HGNC:3531)
|
congenital factor XIII deficiency
(MONDO_0018029)
|
Definitive
|
|
|
F13A1
(HGNC:3531)
|
factor XIII deficiency
(MONDO_0002241)
|
Strong
|
|
|
F7
(HGNC:3544)
|
factor VII deficiency
(MONDO_0002244)
|
Definitive
|
|
|
F7
(HGNC:3544)
|
congenital factor VII deficiency
(MONDO_0009211)
|
Definitive
|
|
|
F9
(HGNC:3551)
|
hemophilia B
(MONDO_0010604)
|
Definitive
|
|
|
FBN2
(HGNC:3604)
|
congenital contractural arachnodactyly
(MONDO_0007363)
|
Definitive
|
|
|
FBP1
(HGNC:3606)
|
fructose-1,6-bisphosphatase deficiency
(MONDO_0009251)
|
Definitive
|
|
|
FKTN
(HGNC:3622)
|
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
(MONDO_0009678)
|
Definitive
|
|
|
FKTN
(HGNC:3622)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Definitive
|
|
|
FECH
(HGNC:3647)
|
erythropoietic protoporphyria
(MONDO_0001676)
|
Definitive
|
|
|
FGD1
(HGNC:3663)
|
Aarskog-Scott syndrome, X-linked
(MONDO_0010589)
|
Definitive
|
|
|
FGF14
(HGNC:3671)
|
spinocerebellar ataxia type 27
(MONDO_0012247)
|
Definitive
|
|
|
FGF23
(HGNC:3680)
|
autosomal dominant hypophosphatemic rickets
(MONDO_0008660)
|
Strong
|
|
|
FGF23
(HGNC:3680)
|
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
(MONDO_0100251)
|
Strong
|
|
|
FGG
(HGNC:3694)
|
familial dysfibrinogenemia
(MONDO_0014452)
|
Strong
|
|
|
FGF23
(HGNC:3680)
|
familial tumoral calcinosis
(MONDO_0018891)
|
Strong
|
|
|
FHL1
(HGNC:3702)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
FHL1
(HGNC:3702)
|
Emery-Dreifuss muscular dystrophy
(MONDO_0016830)
|
Definitive
|
|
|
FGG
(HGNC:3694)
|
congenital afibrinogenemia
(MONDO_0008737)
|
Definitive
|
|
|
FLI1
(HGNC:3749)
|
Ewing sarcoma
(MONDO_0012817)
|
Strong
|
|
|
FHL1
(HGNC:3702)
|
reducing body myopathy
(MONDO_0019948)
|
Definitive
|
|
|
FLT4
(HGNC:3767)
|
lymphatic malformation 1
(MONDO_0007919)
|
Definitive
|
|
|
FMO3
(HGNC:3771)
|
trimethylaminuria
(MONDO_0011182)
|
Definitive
|
|
|
FOLR1
(HGNC:3791)
|
cerebral folate deficiency
(MONDO_0100034)
|
Strong
|
|
|
FN1
(HGNC:3778)
|
fibronectin glomerulopathy
(MONDO_0007671)
|
Strong
|
|
|
FOXC2
(HGNC:3801)
|
lymphedema-distichiasis syndrome
(MONDO_0007922)
|
Definitive
|
|
|
FOXE1
(HGNC:3806)
|
congenital hypothyroidism
(MONDO_0018612)
|
Moderate
|
|
|
FOXG1
(HGNC:3811)
|
Rett syndrome
(MONDO_0010726)
|
Definitive
|
|
|
FOXF1
(HGNC:3809)
|
alveolar capillary dysplasia with misalignment of pulmonary veins
(MONDO_0009934)
|
Definitive
|
|
|
FOXG1
(HGNC:3811)
|
Rett syndrome, congenital variant
(MONDO_0013270)
|
Strong
|
|
|
FXN
(HGNC:3951)
|
Friedreich ataxia
(MONDO_0100339)
|
Definitive
|
|
|
FSHR
(HGNC:3969)
|
premature menopause
(MONDO_0001119)
|
Strong
|
|
|
ALAS2
(HGNC:397)
|
X-linked erythropoietic protoporphyria
(MONDO_0010420)
|
Strong
|
|
|
ALAS2
(HGNC:397)
|
X-linked sideroblastic anemia 1
(MONDO_0020721)
|
Definitive
|
|
|
FTL
(HGNC:3999)
|
hereditary hyperferritinemia with congenital cataracts
(MONDO_0010952)
|
Definitive
|
|
|
FTL
(HGNC:3999)
|
neuroferritinopathy
(MONDO_0011638)
|
Definitive
|
|
|
ALB
(HGNC:399)
|
congenital analbuminemia
(MONDO_0014449)
|
Definitive
|
|
|
ALB
(HGNC:399)
|
hyperthyroxinemia, familial dysalbuminemic
(MONDO_0014448)
|
Definitive
|
|
|
FUCA1
(HGNC:4006)
|
fucosidosis
(MONDO_0009254)
|
Definitive
|
|
|
FZD4
(HGNC:4042)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Definitive
|
|
|
SLC37A4
(HGNC:4061)
|
glycogen storage disease Ib
(MONDO_0009288)
|
Definitive
|
|
|
G6PC1
(HGNC:4056)
|
glycogen storage disease I
(MONDO_0002413)
|
Definitive
|
|
|
ALDH5A1
(HGNC:408)
|
succinic semialdehyde dehydrogenase deficiency
(MONDO_0010083)
|
Definitive
|
|
|
GALC
(HGNC:4115)
|
Krabbe disease
(MONDO_0009499)
|
Definitive
|
|
|
GALNS
(HGNC:4122)
|
mucopolysaccharidosis type 4A
(MONDO_0009659)
|
Definitive
|
|
|
GALNS
(HGNC:4122)
|
mucopolysaccharidosis type 4
(MONDO_0018938)
|
Definitive
|
|
|
GALNT3
(HGNC:4125)
|
familial tumoral calcinosis
(MONDO_0018891)
|
Definitive
|
|
|
GALNT3
(HGNC:4125)
|
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
(MONDO_0100251)
|
Definitive
|
|
|
GALT
(HGNC:4135)
|
classic galactosemia
(MONDO_0009258)
|
Definitive
|
|
|
GALT
(HGNC:4135)
|
galactosemia
(MONDO_0018116)
|
Definitive
|
|
|
GAN
(HGNC:4137)
|
giant axonal neuropathy
(MONDO_0000128)
|
Definitive
|
|
|
ALDOB
(HGNC:417)
|
hereditary fructose intolerance
(MONDO_0009249)
|
Definitive
|
|
|
GBE1
(HGNC:4180)
|
adult polyglucosan body disease
(MONDO_0009897)
|
Definitive
|
|
|
GAMT
(HGNC:4136)
|
guanidinoacetate methyltransferase deficiency
(MONDO_0012999)
|
Definitive
|
|
|
GBE1
(HGNC:4180)
|
glycogen storage disease due to glycogen branching enzyme deficiency
(MONDO_0009292)
|
Strong
|
|
|
GFAP
(HGNC:4235)
|
Alexander disease
(MONDO_0008752)
|
Definitive
|
|
|
GCH1
(HGNC:4193)
|
dystonia 5
(MONDO_0007495)
|
Definitive
|
|
|
GH1
(HGNC:4261)
|
isolated congenital growth hormone deficiency
(MONDO_0000050)
|
Definitive
|
|
|
GHR
(HGNC:4263)
|
Laron syndrome
(MONDO_0009877)
|
Definitive
|
|
|
GJB3
(HGNC:4285)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Definitive
|
|
|
GJB6
(HGNC:4288)
|
Clouston syndrome
(MONDO_0007510)
|
Definitive
|
|
|
GCH1
(HGNC:4193)
|
Parkinson disease
(MONDO_0005180)
|
Moderate
|
|
|
GCDH
(HGNC:4189)
|
glutaryl-CoA dehydrogenase deficiency
(MONDO_0009281)
|
Definitive
|
|
|
GHR
(HGNC:4263)
|
growth hormone insensitivity syndrome
(MONDO_0015892)
|
Definitive
|
|
|
GDF5
(HGNC:4220)
|
acromesomelic dysplasia 2A
(MONDO_0008703)
|
Definitive
|
|
|
ALMS1
(HGNC:428)
|
Alstrom syndrome
(MONDO_0008763)
|
Definitive
|
|
|
GLDC
(HGNC:4313)
|
glycine encephalopathy
(MONDO_0011612)
|
Definitive
|
|
|
GLRA1
(HGNC:4326)
|
hyperekplexia
(MONDO_0017658)
|
Definitive
|
|
|
GLRA1
(HGNC:4326)
|
hereditary hyperekplexia
(MONDO_0021022)
|
Definitive
|
|
|
ALPL
(HGNC:438)
|
hypophosphatasia
(MONDO_0018570)
|
Definitive
|
|
|
GLUD1
(HGNC:4335)
|
hyperinsulinism-hyperammonemia syndrome
(MONDO_0011717)
|
Strong
|
|
|
GP1BA
(HGNC:4439)
|
platelet-type von Willebrand disease
(MONDO_0008332)
|
Strong
|
|
|
GNRHR
(HGNC:4421)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Definitive
|
|
|
GPC3
(HGNC:4451)
|
Simpson-Golabi-Behmel syndrome
(MONDO_0010731)
|
Definitive
|
|
|
GP9
(HGNC:4444)
|
Bernard-Soulier syndrome
(MONDO_0009276)
|
Definitive
|
|
|
SETX
(HGNC:445)
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
|
Definitive
|
|
|
GP1BA
(HGNC:4439)
|
Bernard-Soulier syndrome
(MONDO_0009276)
|
Definitive
|
|
|
ALX4
(HGNC:450)
|
Potocki-Shaffer syndrome
(MONDO_0011022)
|
Strong
|
|
|
GPC3
(HGNC:4451)
|
Simpson-Golabi-Behmel syndrome type 1
(MONDO_0020602)
|
Definitive
|
|
|
GRIN2A
(HGNC:4585)
|
epilepsy
(MONDO_0005027)
|
Definitive
|
|
|
AMH
(HGNC:464)
|
persistent Mullerian duct syndrome
(MONDO_0009857)
|
Definitive
|
|
|
GSN
(HGNC:4620)
|
Finnish type amyloidosis
(MONDO_0007097)
|
Definitive
|
|
|
GTF2I
(HGNC:4659)
|
Williams syndrome
(MONDO_0008678)
|
Definitive
|
|
|
GUCY2D
(HGNC:4689)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
GUSB
(HGNC:4696)
|
mucopolysaccharidosis type 7
(MONDO_0009662)
|
Strong
|
|
|
HADHA
(HGNC:4801)
|
mitochondrial trifunctional protein deficiency
(MONDO_0012172)
|
Definitive
|
|
|
HADHB
(HGNC:4803)
|
mitochondrial trifunctional protein deficiency
(MONDO_0012172)
|
Definitive
|
|
|
HTT
(HGNC:4851)
|
Huntington disease
(MONDO_0007739)
|
Definitive
|
|
|
HESX1
(HGNC:4877)
|
panhypopituitarism
(MONDO_0019591)
|
Moderate
|
|
|
HTT
(HGNC:4851)
|
juvenile Huntington disease
(MONDO_0016621)
|
Definitive
|
|
|
HEXA
(HGNC:4878)
|
Tay-Sachs disease
(MONDO_0010100)
|
Definitive
|
|
|
HEXA
(HGNC:4878)
|
GM2 gangliosidosis
(MONDO_0017720)
|
Definitive
|
|
|
HJV
(HGNC:4887)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Strong
|
|
|
HEXB
(HGNC:4879)
|
Sandhoff disease
(MONDO_0010006)
|
Strong
|
|
|
HJV
(HGNC:4887)
|
hemochromatosis type 2
(MONDO_0019257)
|
Strong
|
|
|
CFHR1
(HGNC:4888)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
HGD
(HGNC:4892)
|
alkaptonuria
(MONDO_0008753)
|
Definitive
|
|
|
HIBCH
(HGNC:4908)
|
3-hydroxyisobutyryl-CoA hydrolase deficiency
(MONDO_0009603)
|
Strong
|
|
|
ANK1
(HGNC:492)
|
hereditary spherocytosis
(MONDO_0019350)
|
Strong
|
|
|
MNX1
(HGNC:4979)
|
Currarino triad
(MONDO_0008305)
|
Definitive
|
|
|
HLCS
(HGNC:4976)
|
holocarboxylase synthetase deficiency
(MONDO_0009666)
|
Definitive
|
|
|
HMBS
(HGNC:4982)
|
acute intermittent porphyria
(MONDO_0008294)
|
Definitive
|
|
|
HMBS
(HGNC:4982)
|
porphyria
(MONDO_0037939)
|
Definitive
|
|
|
HMGCL
(HGNC:5005)
|
3-hydroxy-3-methylglutaric aciduria
(MONDO_0009520)
|
Definitive
|
|
|
HOXA13
(HGNC:5102)
|
hand-foot-genital syndrome
(MONDO_0007698)
|
Definitive
|
|
|
HPGD
(HGNC:5154)
|
primary hypertrophic osteoarthropathy
(MONDO_0016620)
|
Strong
|
|
|
HOXD13
(HGNC:5136)
|
synpolydactyly
(MONDO_0021651)
|
Definitive
|
|
|
HPRT1
(HGNC:5157)
|
gout
(MONDO_0005393)
|
Strong
|
|
|
HPRT1
(HGNC:5157)
|
Lesch-Nyhan syndrome
(MONDO_0010298)
|
Definitive
|
|
|
HPRT1
(HGNC:5157)
|
hypoxanthine guanine phosphoribosyltransferase partial deficiency
(MONDO_0010299)
|
Definitive
|
|
|
HPS1
(HGNC:5163)
|
Hermansky-Pudlak syndrome
(MONDO_0019312)
|
Definitive
|
|
|
HR
(HGNC:5172)
|
atrichia with papular lesions
(MONDO_0008847)
|
Strong
|
|
|
HSD17B3
(HGNC:5212)
|
46,XY disorder of sex development
(MONDO_0020040)
|
Strong
|
|
|
HSD11B2
(HGNC:5209)
|
apparent mineralocorticoid excess
(MONDO_0009025)
|
Definitive
|
|
|
HSD17B4
(HGNC:5213)
|
d-bifunctional protein deficiency
(MONDO_0009855)
|
Definitive
|
|
|
HSD17B4
(HGNC:5213)
|
Perrault syndrome
(MONDO_0017312)
|
Moderate
|
|
|
HSD3B2
(HGNC:5218)
|
congenital adrenal hyperplasia
(MONDO_0018479)
|
Definitive
|
|
|
IDS
(HGNC:5389)
|
mucopolysaccharidosis type 2
(MONDO_0010674)
|
Definitive
|
|
|
IDUA
(HGNC:5391)
|
mucopolysaccharidosis type 1
(MONDO_0001586)
|
Definitive
|
|
|
HSPB1
(HGNC:5246)
|
Charcot-Marie-Tooth disease axonal type 2F
(MONDO_0011687)
|
Strong
|
|
|
IDUA
(HGNC:5391)
|
Hurler syndrome
(MONDO_0011758)
|
Definitive
|
|
|
HSPG2
(HGNC:5273)
|
Schwartz-Jampel syndrome
(MONDO_0009717)
|
Definitive
|
|
|
IDUA
(HGNC:5391)
|
mucopolysaccharidosis
(MONDO_0019249)
|
Definitive
|
|
|
HSPB1
(HGNC:5246)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Strong
|
|
|
CFI
(HGNC:5394)
|
complement factor I deficiency
(MONDO_0012594)
|
Moderate
|
|
|
NOTCH2NLC
(HGNC:53924)
|
neuronal intranuclear inclusion disease
(MONDO_0011327)
|
Definitive
|
|
|
CFI
(HGNC:5394)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
CFI
(HGNC:5394)
|
thrombotic microangiopathy
(MONDO_0019737)
|
Strong
|
|
|
IGHMBP2
(HGNC:5542)
|
autosomal recessive distal spinal muscular atrophy 1
(MONDO_0011436)
|
Definitive
|
|
|
AP3B1
(HGNC:566)
|
Hermansky-Pudlak syndrome
(MONDO_0019312)
|
Definitive
|
|
|
AP3B1
(HGNC:566)
|
Hermansky-Pudlak syndrome 2
(MONDO_0011997)
|
Strong
|
|
|
ABCC6
(HGNC:57)
|
autosomal recessive inherited pseudoxanthoma elasticum
(MONDO_0009925)
|
Definitive
|
|
|
ABCC6
(HGNC:57)
|
arterial calcification of infancy
(MONDO_0018870)
|
Strong
|
|
|
BIRC3
(HGNC:591)
|
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
|
Moderate
|
|
|
XIAP
(HGNC:592)
|
X-linked lymphoproliferative disease due to XIAP deficiency
(MONDO_0010385)
|
Definitive
|
|
|
IGSF1
(HGNC:5948)
|
central congenital hypothyroidism
(MONDO_0016410)
|
Definitive
|
|
|
IKBKG
(HGNC:5961)
|
incontinentia pigmenti
(MONDO_0010631)
|
Definitive
|
|
|
IL2RG
(HGNC:6010)
|
T-B+ severe combined immunodeficiency due to gamma chain deficiency
(MONDO_0010315)
|
Definitive
|
|
|
IL10RA
(HGNC:5964)
|
inflammatory bowel disease
(MONDO_0005265)
|
Definitive
|
|
|
IL2RG
(HGNC:6010)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
ABCC9
(HGNC:60)
|
hypertrichotic osteochondrodysplasia Cantu type
(MONDO_0009406)
|
Definitive
|
|
|
IRF6
(HGNC:6121)
|
popliteal pterygium syndrome
(MONDO_0017435)
|
Definitive
|
|
|
IRF6
(HGNC:6121)
|
van der Woude syndrome
(MONDO_0019508)
|
Definitive
|
|
|
ITGA2B
(HGNC:6138)
|
Glanzmann thrombasthenia
(MONDO_0100326)
|
Definitive
|
|
|
ITGA6
(HGNC:6142)
|
junctional epidermolysis bullosa with pyloric atresia
(MONDO_0009183)
|
Definitive
|
|
|
ITGB2
(HGNC:6155)
|
leukocyte adhesion deficiency
(MONDO_0017570)
|
Definitive
|
|
|
ITGB2
(HGNC:6155)
|
leukocyte adhesion deficiency 1
(MONDO_0007293)
|
Definitive
|
|
|
IVD
(HGNC:6186)
|
isovaleric acidemia
(MONDO_0009475)
|
Definitive
|
|
|
JUP
(HGNC:6207)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Definitive
|
|
|
KCNA1
(HGNC:6218)
|
episodic ataxia type 1
(MONDO_0008047)
|
Definitive
|
|
|
ANOS1
(HGNC:6211)
|
Kallmann syndrome
(MONDO_0018800)
|
Definitive
|
|
|
KCNJ1
(HGNC:6255)
|
Bartter disease type 2
(MONDO_0009424)
|
Definitive
|
|
|
KCNJ1
(HGNC:6255)
|
Bartter syndrome
(MONDO_0015231)
|
Definitive
|
|
|
APRT
(HGNC:626)
|
adenine phosphoribosyltransferase deficiency
(MONDO_0013869)
|
Definitive
|
|
|
KCNQ3
(HGNC:6297)
|
benign neonatal seizures
(MONDO_0016027)
|
Moderate
|
|
|
KIF5A
(HGNC:6323)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
KIF5A
(HGNC:6323)
|
hereditary spastic paraplegia 10
(MONDO_0011408)
|
Strong
|
|
|
AQP2
(HGNC:634)
|
nephrogenic diabetes insipidus
(MONDO_0016383)
|
Definitive
|
|
|
KIF5A
(HGNC:6323)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Definitive
|
|
|
MAFB
(HGNC:6408)
|
multicentric carpo-tarsal osteolysis with or without nephropathy
(MONDO_0008152)
|
Definitive
|
|
|
KRT10
(HGNC:6413)
|
epidermolytic ichthyosis
(MONDO_0007239)
|
Definitive
|
|
|
KRT14
(HGNC:6416)
|
epidermolysis bullosa simplex
(MONDO_0017610)
|
Definitive
|
|
|
KRT17
(HGNC:6427)
|
pachyonychia congenita
(MONDO_0016471)
|
Definitive
|
|
|
KRT16
(HGNC:6423)
|
pachyonychia congenita
(MONDO_0016471)
|
Definitive
|
|
|
KRT5
(HGNC:6442)
|
epidermolysis bullosa simplex
(MONDO_0017610)
|
Definitive
|
|
|
KRT6A
(HGNC:6443)
|
pachyonychia congenita
(MONDO_0016471)
|
Definitive
|
|
|
KRT9
(HGNC:6447)
|
palmoplantar keratoderma, epidermolytic
(MONDO_0968949)
|
Definitive
|
|
|
LAMA3
(HGNC:6483)
|
junctional epidermolysis bullosa
(MONDO_0017612)
|
Definitive
|
|
|
LAMB2
(HGNC:6487)
|
familial nephrotic syndrome
(MONDO_0002350)
|
Definitive
|
|
|
LAMB2
(HGNC:6487)
|
Pierson syndrome
(MONDO_0012184)
|
Strong
|
|
|
LAMB3
(HGNC:6490)
|
epidermolysis bullosa
(MONDO_0006541)
|
Definitive
|
|
|
LAMA1
(HGNC:6481)
|
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
(MONDO_0014419)
|
Strong
|
|
|
LAMP2
(HGNC:6501)
|
Danon disease
(MONDO_0010281)
|
Definitive
|
|
|
LAMB3
(HGNC:6490)
|
junctional epidermolysis bullosa
(MONDO_0017612)
|
Definitive
|
|
|
LIPA
(HGNC:6617)
|
lysosomal acid lipase deficiency
(MONDO_0800449)
|
Definitive
|
|
|
LGI1
(HGNC:6572)
|
autosomal dominant epilepsy with auditory features
(MONDO_0010898)
|
Strong
|
|
|
LIPA
(HGNC:6617)
|
cholesteryl ester storage disease
(MONDO_0019149)
|
Definitive
|
|
|
LIPA
(HGNC:6617)
|
Wolman disease
(MONDO_0019148)
|
Definitive
|
|
|
ARG1
(HGNC:663)
|
hyperargininemia
(MONDO_0008814)
|
Definitive
|
|
|
RHOA
(HGNC:667)
|
angioimmunoblastic T-cell lymphoma
(MONDO_0004977)
|
Strong
|
|
|
LRP2
(HGNC:6694)
|
Donnai-Barrow syndrome
(MONDO_0009104)
|
Definitive
|
|
|
LRP4
(HGNC:6696)
|
Cenani-Lenz syndactyly syndrome
(MONDO_0008931)
|
Definitive
|
|
|
LZTR1
(HGNC:6742)
|
schwannomatosis
(MONDO_0008075)
|
Definitive
|
|
|
LZTR1
(HGNC:6742)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
MC2R
(HGNC:6930)
|
familial glucocorticoid deficiency
(MONDO_0008733)
|
Definitive
|
|
|
MCCC2
(HGNC:6937)
|
3-methylcrotonyl-CoA carboxylase deficiency
(MONDO_0018950)
|
Definitive
|
|
|
CD46
(HGNC:6953)
|
hemolytic-uremic syndrome
(MONDO_0001549)
|
Definitive
|
|
|
MERTK
(HGNC:7027)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
CD46
(HGNC:6953)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
MKKS
(HGNC:7108)
|
McKusick-Kaufman syndrome
(MONDO_0009367)
|
Definitive
|
|
|
MKKS
(HGNC:7108)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
MKRN3
(HGNC:7114)
|
idiopathic central precocious puberty
(MONDO_0015713)
|
Definitive
|
|
|
MKRN3
(HGNC:7114)
|
central precocious puberty
(MONDO_0019165)
|
Definitive
|
|
|
MN1
(HGNC:7180)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
MOCS1
(HGNC:7190)
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency
(MONDO_0020480)
|
Definitive
|
|
|
MOCS2
(HGNC:7193)
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency
(MONDO_0020480)
|
Definitive
|
|
|
MPV17
(HGNC:7224)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Definitive
|
|
|
ASAH1
(HGNC:735)
|
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
(MONDO_0008045)
|
Definitive
|
|
|
ASAH1
(HGNC:735)
|
Farber lipogranulomatosis
(MONDO_0009218)
|
Definitive
|
|
|
MSX1
(HGNC:7391)
|
tooth agenesis
(MONDO_0005486)
|
Definitive
|
|
|
MTM1
(HGNC:7448)
|
X-linked myotubular myopathy
(MONDO_0010683)
|
Definitive
|
|
|
MTTP
(HGNC:7467)
|
abetalipoproteinemia
(MONDO_0008692)
|
Definitive
|
|
|
ASL
(HGNC:746)
|
argininosuccinic aciduria
(MONDO_0008815)
|
Definitive
|
|
|
MUSK
(HGNC:7525)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Strong
|
|
|
MUC1
(HGNC:7508)
|
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
(MONDO_0008264)
|
Strong
|
|
|
MMUT
(HGNC:7526)
|
methylmalonic acidemia
(MONDO_0002012)
|
Definitive
|
|
|
ASNS
(HGNC:753)
|
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
(MONDO_0014258)
|
Definitive
|
|
|
MYB
(HGNC:7545)
|
adenoid cystic carcinoma
(MONDO_0004971)
|
Strong
|
|
|
MYCN
(HGNC:7559)
|
neuroblastoma
(MONDO_0005072)
|
Definitive
|
|
|
ASPA
(HGNC:756)
|
Canavan disease
(MONDO_0010079)
|
Definitive
|
|
|
MYL2
(HGNC:7583)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Definitive
|
|
|
ASS1
(HGNC:758)
|
citrullinemia type I
(MONDO_0008988)
|
Strong
|
|
|
ASS1
(HGNC:758)
|
citrullinemia
(MONDO_0015991)
|
Strong
|
|
|
MYO5B
(HGNC:7603)
|
microvillus inclusion disease
(MONDO_0009635)
|
Definitive
|
|
|
MYO7A
(HGNC:7606)
|
Usher syndrome type 1
(MONDO_0010168)
|
Definitive
|
|
|
MYO7A
(HGNC:7606)
|
Usher syndrome
(MONDO_0019501)
|
Definitive
|
|
|
MYOC
(HGNC:7610)
|
glaucoma
(MONDO_0005041)
|
Definitive
|
|
|
MYOC
(HGNC:7610)
|
open-angle glaucoma
(MONDO_0005338)
|
Definitive
|
|
|
MYOC
(HGNC:7610)
|
ocular hypertension
(MONDO_0006875)
|
Strong
|
|
|
MYOC
(HGNC:7610)
|
juvenile open angle glaucoma
(MONDO_0020367)
|
Strong
|
|
|
MYOC
(HGNC:7610)
|
OPTN-related open angle glaucoma
(MONDO_0100553)
|
Definitive
|
|
|
NAGLU
(HGNC:7632)
|
mucopolysaccharidosis type 3B
(MONDO_0009656)
|
Definitive
|
|
|
NCF1
(HGNC:7660)
|
chronic granulomatous disease
(MONDO_0018305)
|
Strong
|
|
|
NDP
(HGNC:7678)
|
Norrie disease
(MONDO_0010691)
|
Definitive
|
|
|
NDP
(HGNC:7678)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Definitive
|
|
|
NDUFV1
(HGNC:7716)
|
Leigh syndrome
(MONDO_0009723)
|
Definitive
|
|
|
NEB
(HGNC:7720)
|
nemaline myopathy
(MONDO_0018958)
|
Definitive
|
|
|
NEFL
(HGNC:7739)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
NEU1
(HGNC:7758)
|
sialidosis
(MONDO_0017734)
|
Definitive
|
|
|
NFIX
(HGNC:7788)
|
Marshall-Smith syndrome
(MONDO_0011244)
|
Strong
|
|
|
NFKB2
(HGNC:7795)
|
common variable immunodeficiency
(MONDO_0015517)
|
Strong
|
|
|
NFIX
(HGNC:7788)
|
Malan overgrowth syndrome
(MONDO_0013885)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
proximal symphalangism
(MONDO_0008511)
|
Definitive
|
|
|
PNP
(HGNC:7892)
|
purine nucleoside phosphorylase deficiency
(MONDO_0013171)
|
Definitive
|
|
|
NHS
(HGNC:7820)
|
Nance-Horan syndrome
(MONDO_0010545)
|
Definitive
|
|
|
NPC1
(HGNC:7897)
|
Niemann-Pick disease type C
(MONDO_0018982)
|
Definitive
|
|
|
NPHP1
(HGNC:7905)
|
nephronophthisis
(MONDO_0019005)
|
Definitive
|
|
|
NNT
(HGNC:7863)
|
familial glucocorticoid deficiency
(MONDO_0008733)
|
Strong
|
|
|
NPHS1
(HGNC:7908)
|
familial nephrotic syndrome
(MONDO_0002350)
|
Definitive
|
|
|
NPHP3
(HGNC:7907)
|
nephronophthisis
(MONDO_0019005)
|
Definitive
|
|
|
NPR2
(HGNC:7944)
|
acromesomelic dysplasia 1, Maroteaux type
(MONDO_0011275)
|
Definitive
|
|
|
NPHS1
(HGNC:7908)
|
focal segmental glomerulosclerosis
(MONDO_0100313)
|
Strong
|
|
|
NR2E3
(HGNC:7974)
|
enhanced S-cone syndrome
(MONDO_0100288)
|
Definitive
|
|
|
NR2F1
(HGNC:7975)
|
Bosch-Boonstra-Schaaf optic atrophy syndrome
(MONDO_0014320)
|
Definitive
|
|
|
NPHS1
(HGNC:7908)
|
nephrotic syndrome
(MONDO_0005377)
|
Definitive
|
|
|
NR3C2
(HGNC:7979)
|
pseudohypoaldosteronism type 1
(MONDO_0019161)
|
Definitive
|
|
|
ATP1A1
(HGNC:799)
|
primary aldosteronism
(MONDO_0001422)
|
Strong
|
|
|
ATP1A1
(HGNC:799)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
FRMD7
(HGNC:8079)
|
congenital nystagmus
(MONDO_0005712)
|
Definitive
|
|
|
NUP98
(HGNC:8068)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
OCRL
(HGNC:8108)
|
oculocerebrorenal syndrome
(MONDO_0010645)
|
Definitive
|
|
|
OAT
(HGNC:8091)
|
ornithine aminotransferase deficiency
(MONDO_0009796)
|
Definitive
|
|
|
OCRL
(HGNC:8108)
|
Dent disease
(MONDO_0015612)
|
Strong
|
|
|
ATP2A2
(HGNC:812)
|
Darier disease
(MONDO_0007417)
|
Definitive
|
|
|
ATP2A2
(HGNC:812)
|
acrokeratosis verruciformis
(MONDO_0007048)
|
Strong
|
|
|
OTC
(HGNC:8512)
|
urea cycle disorder
(MONDO_0004739)
|
Definitive
|
|
|
OTC
(HGNC:8512)
|
ornithine carbamoyltransferase deficiency
(MONDO_0010703)
|
Definitive
|
|
|
PAFAH1B1
(HGNC:8574)
|
Miller-Dieker lissencephaly syndrome
(MONDO_0009532)
|
Definitive
|
|
|
PABPN1
(HGNC:8565)
|
oculopharyngeal muscular dystrophy
(MONDO_0008116)
|
Definitive
|
|
|
OTOF
(HGNC:8515)
|
auditory neuropathy
(MONDO_0021944)
|
Definitive
|
|
|
PAX3
(HGNC:8617)
|
Waardenburg syndrome type 1
(MONDO_0008670)
|
Definitive
|
|
|
PAX3
(HGNC:8617)
|
Waardenburg syndrome
(MONDO_0018094)
|
Definitive
|
|
|
PAFAH1B1
(HGNC:8574)
|
lissencephaly spectrum disorders
(MONDO_0018838)
|
Definitive
|
|
|
PAX8
(HGNC:8622)
|
congenital hypothyroidism
(MONDO_0018612)
|
Strong
|
|
|
PAX9
(HGNC:8623)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|
|
PCCA
(HGNC:8653)
|
propionic acidemia
(MONDO_0011628)
|
Definitive
|
|
|
PCCB
(HGNC:8654)
|
propionic acidemia
(MONDO_0011628)
|
Definitive
|
|
|
ATP7A
(HGNC:869)
|
occipital horn syndrome
(MONDO_0010572)
|
Strong
|
|
|
ATP7A
(HGNC:869)
|
Menkes disease
(MONDO_0010651)
|
Definitive
|
|
|
ATP6V0A4
(HGNC:866)
|
distal renal tubular acidosis
(MONDO_0015827)
|
Definitive
|
|
|
PDCD10
(HGNC:8761)
|
cerebral cavernous malformation
(MONDO_0000820)
|
Definitive
|
|
|
ATP7B
(HGNC:870)
|
Wilson disease
(MONDO_0010200)
|
Definitive
|
|
|
ALDH7A1
(HGNC:877)
|
pyridoxine-dependent epilepsy
(MONDO_0009945)
|
Definitive
|
|
|
PDE6B
(HGNC:8786)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
PDHA1
(HGNC:8806)
|
pyruvate dehydrogenase deficiency
(MONDO_0019169)
|
Strong
|
|
|
PDGFB
(HGNC:8800)
|
dermatofibrosarcoma protuberans
(MONDO_0011934)
|
Strong
|
|
|
PDGFB
(HGNC:8800)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Strong
|
|
|
PEPD
(HGNC:8840)
|
prolidase deficiency
(MONDO_0008221)
|
Definitive
|
|
|
PEX1
(HGNC:8850)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PEX1
(HGNC:8850)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Definitive
|
|
|
PFKM
(HGNC:8877)
|
glycogen storage disease VII
(MONDO_0009295)
|
Definitive
|
|
|
PGK1
(HGNC:8896)
|
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
(MONDO_0010392)
|
Strong
|
|
|
PGM1
(HGNC:8905)
|
PGM1-congenital disorder of glycosylation
(MONDO_0013968)
|
Strong
|
|
|
PHEX
(HGNC:8918)
|
X-linked dominant hypophosphatemic rickets
(MONDO_0010619)
|
Definitive
|
|
|
PHEX
(HGNC:8918)
|
X-linked hypophosphatemic rickets
(MONDO_0020720)
|
Definitive
|
|
|
PHEX
(HGNC:8918)
|
hypophosphatemic rickets
(MONDO_0024300)
|
Definitive
|
|
|
PGM1
(HGNC:8905)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Definitive
|
|
|
PHKA2
(HGNC:8926)
|
disorder of glycogen metabolism
(MONDO_0002412)
|
Strong
|
|
|
PIGA
(HGNC:8957)
|
paroxysmal nocturnal hemoglobinuria
(MONDO_0100244)
|
Definitive
|
|
|
PIGN
(HGNC:8967)
|
multiple congenital anomalies-hypotonia-seizures syndrome 1
(MONDO_0013563)
|
Definitive
|
|
|
AVPR2
(HGNC:897)
|
nephrogenic syndrome of inappropriate antidiuresis
(MONDO_0010356)
|
Strong
|
|
|
AVPR2
(HGNC:897)
|
nephrogenic diabetes insipidus
(MONDO_0016383)
|
Definitive
|
|
|
ACADM
(HGNC:89)
|
medium chain acyl-CoA dehydrogenase deficiency
(MONDO_0008721)
|
Definitive
|
|
|
PITX2
(HGNC:9005)
|
Axenfeld-Rieger syndrome
(MONDO_0019187)
|
Definitive
|
|
|
PKD2
(HGNC:9009)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Definitive
|
|
|
PKLR
(HGNC:9020)
|
pyruvate kinase deficiency of red cells
(MONDO_0009950)
|
Definitive
|
|
|
PKP2
(HGNC:9024)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Definitive
|
|
|
PLA2G6
(HGNC:9039)
|
neurodegeneration with brain iron accumulation 2A
(MONDO_0024457)
|
Definitive
|
|
|
PLA2G6
(HGNC:9039)
|
neurodegeneration with brain iron accumulation
(MONDO_0018307)
|
Definitive
|
|
|
PLG
(HGNC:9071)
|
ligneous conjunctivitis
(MONDO_0100560)
|
Definitive
|
|
|
PLG
(HGNC:9071)
|
hereditary angioedema
(MONDO_0019623)
|
Strong
|
|
|
PLP1
(HGNC:9086)
|
Pelizeaus-Merzbacher spectrum disorder
(MONDO_0010714)
|
Definitive
|
|
|
PLOD1
(HGNC:9081)
|
Ehlers-Danlos syndrome, kyphoscoliotic type 1
(MONDO_0016002)
|
Strong
|
|
|
ACADS
(HGNC:90)
|
short chain acyl-CoA dehydrogenase deficiency
(MONDO_0008722)
|
Limited
|
|
|
PML
(HGNC:9113)
|
acute promyelocytic leukemia
(MONDO_0012883)
|
Definitive
|
|
|
PMM2
(HGNC:9115)
|
PMM2-congenital disorder of glycosylation
(MONDO_0008907)
|
Definitive
|
|
|
PLP1
(HGNC:9086)
|
hereditary spastic paraplegia 2
(MONDO_0010733)
|
Definitive
|
|
|
PMM2
(HGNC:9115)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Definitive
|
|
|
PHOX2B
(HGNC:9143)
|
neuroblastoma
(MONDO_0005072)
|
Strong
|
|
|
PHOX2B
(HGNC:9143)
|
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
(MONDO_0800026)
|
Definitive
|
|
|
PHOX2B
(HGNC:9143)
|
Hirschsprung disease
(MONDO_0018309)
|
Moderate
|
|
|
POR
(HGNC:9208)
|
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
(MONDO_0013310)
|
Definitive
|
|
|
POR
(HGNC:9208)
|
Antley-Bixler syndrome
(MONDO_0008803)
|
Definitive
|
|
|
POR
(HGNC:9208)
|
congenital adrenal hyperplasia
(MONDO_0018479)
|
Definitive
|
|
|
POLH
(HGNC:9181)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Definitive
|
|
|
POU1F1
(HGNC:9210)
|
panhypopituitarism
(MONDO_0019591)
|
Definitive
|
|
|
PPT1
(HGNC:9325)
|
neuronal ceroid lipofuscinosis 1
(MONDO_0009744)
|
Definitive
|
|
|
CTSA
(HGNC:9251)
|
galactosialidosis
(MONDO_0009737)
|
Definitive
|
|
|
ACADVL
(HGNC:92)
|
very long chain acyl-CoA dehydrogenase deficiency
(MONDO_0008723)
|
Definitive
|
|
|
PPT1
(HGNC:9325)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
PPT1
(HGNC:9325)
|
infantile neuronal ceroid lipofuscinosis
(MONDO_0019261)
|
Definitive
|
|
|
PRKACA
(HGNC:9380)
|
Cushing syndrome
(MONDO_0018912)
|
Definitive
|
|
|
BAG3
(HGNC:939)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Definitive
|
|
|
BAG3
(HGNC:939)
|
myofibrillar myopathy
(MONDO_0018943)
|
Definitive
|
|
|
ACAT1
(HGNC:93)
|
beta-ketothiolase deficiency
(MONDO_0008760)
|
Strong
|
|
|
PRKCG
(HGNC:9402)
|
spinocerebellar ataxia type 14
(MONDO_0011540)
|
Definitive
|
|
|
PROP1
(HGNC:9455)
|
panhypopituitarism
(MONDO_0019591)
|
Definitive
|
|
|
PRPS1
(HGNC:9462)
|
Arts syndrome
(MONDO_0010533)
|
Definitive
|
|
|
PRPS1
(HGNC:9462)
|
Charcot-Marie-Tooth disease X-linked recessive 5
(MONDO_0010699)
|
Strong
|
|
|
HTRA1
(HGNC:9476)
|
CARASIL syndrome
(MONDO_0010829)
|
Definitive
|
|
|
LONP1
(HGNC:9479)
|
diffuse large B-cell lymphoma
(MONDO_0018905)
|
Limited
|
|
|
PSEN2
(HGNC:9509)
|
Alzheimer disease
(MONDO_0004975)
|
Strong
|
|
|
PSEN2
(HGNC:9509)
|
familial Alzheimer disease
(MONDO_0100087)
|
Definitive
|
|
|
BBS1
(HGNC:966)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
CAVIN1
(HGNC:9688)
|
congenital generalized lipodystrophy type 4
(MONDO_0013225)
|
Strong
|
|
|
ALDH18A1
(HGNC:9722)
|
cutis laxa
(MONDO_0016175)
|
Moderate
|
|
|
PYGM
(HGNC:9726)
|
glycogen storage disease V
(MONDO_0009293)
|
Strong
|
|
|
QDPR
(HGNC:9752)
|
dihydropteridine reductase deficiency
(MONDO_0009862)
|
Definitive
|
|
|
RAB27A
(HGNC:9766)
|
Griscelli syndrome type 2
(MONDO_0011872)
|
Definitive
|
|
|
RAB27A
(HGNC:9766)
|
hemophagocytic syndrome
(MONDO_0015540)
|
Definitive
|
|
|
RAB27A
(HGNC:9766)
|
Griscelli syndrome
(MONDO_0018306)
|
Definitive
|
|
|
RAD21
(HGNC:9811)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Strong
|
|
|
RAG1
(HGNC:9831)
|
Omenn syndrome
(MONDO_0011338)
|
Definitive
|
|
|
RAG1
(HGNC:9831)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
RAG2
(HGNC:9832)
|
severe combined immunodeficiency
(MONDO_0015974)
|
Definitive
|
|
|
RARA
(HGNC:9864)
|
acute promyelocytic leukemia
(MONDO_0012883)
|
Definitive
|
|
|
RAI1
(HGNC:9834)
|
Smith-Magenis syndrome
(MONDO_0008434)
|
Definitive
|
|
|
BCKDHB
(HGNC:987)
|
maple syrup urine disease
(MONDO_0009563)
|
Definitive
|
|
|
RASA1
(HGNC:9871)
|
capillary malformation-arteriovenous malformation syndrome
(MONDO_0012016)
|
Definitive
|
|
|
RBM10
(HGNC:9896)
|
TARP syndrome
(MONDO_0010711)
|
Definitive
|
|
|
RDH5
(HGNC:9940)
|
fundus albipunctatus
(MONDO_0007639)
|
Definitive
|
|
|
RGS9
(HGNC:10004)
|
bradyopsia
(MONDO_0012033)
|
Limited
|
|
|
RHAG
(HGNC:10006)
|
overhydrated hereditary stomatocytosis
(MONDO_0008493)
|
Limited
|
|
|
RHO
(HGNC:10012)
|
congenital stationary night blindness
(MONDO_0016293)
|
Moderate
|
|
|
GRK1
(HGNC:10013)
|
Oguchi disease-2
(MONDO_0013259)
|
Strong
|
|
|
RLBP1
(HGNC:10024)
|
fundus albipunctatus
(MONDO_0007639)
|
Limited
|
|
|
RIPK1
(HGNC:10019)
|
autoinflammation with episodic fever and lymphadenopathy
(MONDO_0030018)
|
Definitive
|
|
|
RLBP1
(HGNC:10024)
|
retinitis punctata albescens
(MONDO_0018877)
|
Strong
|
|
|
RLBP1
(HGNC:10024)
|
Newfoundland cone-rod dystrophy
(MONDO_0011839)
|
Moderate
|
|
|
BCS1L
(HGNC:1020)
|
Bjornstad syndrome
(MONDO_0009872)
|
Moderate
|
|
|
ROBO1
(HGNC:10249)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Moderate
|
|
|
RLBP1
(HGNC:10024)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
BCS1L
(HGNC:1020)
|
GRACILE syndrome
(MONDO_0011308)
|
Definitive
|
|
|
BCS1L
(HGNC:1020)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
RPE65
(HGNC:10294)
|
Leber congenital amaurosis 2
(MONDO_0008765)
|
Definitive
|
|
|
BCS1L
(HGNC:1020)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Strong
|
|
|
RPL26
(HGNC:10327)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
RPL35
(HGNC:10344)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
RPL35A
(HGNC:10345)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Definitive
|
|
|
RPL3L
(HGNC:10351)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
RPL5
(HGNC:10360)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Definitive
|
|
|
RPS10
(HGNC:10383)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Definitive
|
|
|
RPGR
(HGNC:10295)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
RPS20
(HGNC:10405)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Moderate
|
|
|
CNNM2
(HGNC:103)
|
hypomagnesemia, seizures, and intellectual disability 1
(MONDO_0020787)
|
Strong
|
|
|
ROR2
(HGNC:10257)
|
brachydactyly type B1
(MONDO_0007220)
|
Strong
|
|
|
RPS26
(HGNC:10414)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPS24
(HGNC:10411)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Moderate
|
|
|
RPS6KA3
(HGNC:10432)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
RPS6KB1
(HGNC:10436)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
RPIA
(HGNC:10297)
|
ribose-5-P isomerase deficiency
(MONDO_0012073)
|
Moderate
|
|
|
ROM1
(HGNC:10254)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
RRAS
(HGNC:10447)
|
Noonan syndrome
(MONDO_0018997)
|
Limited
|
|
|
RPS20
(HGNC:10405)
|
familial colorectal cancer type X
(MONDO_0018604)
|
Limited
|
|
|
BGN
(HGNC:1044)
|
Meester-Loeys syndrome
(MONDO_0010515)
|
Strong
|
|
|
RPL21
(HGNC:10313)
|
hypotrichosis simplex
(MONDO_0018914)
|
Moderate
|
|
|
RORB
(HGNC:10259)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
ROR2
(HGNC:10257)
|
autosomal recessive Robinow syndrome
(MONDO_0009999)
|
Definitive
|
|
|
RS1
(HGNC:10457)
|
retinoschisis
(MONDO_0004579)
|
Definitive
|
|
|
RPE65
(HGNC:10294)
|
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
|
Definitive
|
|
|
RPE65
(HGNC:10294)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
RPL11
(HGNC:10301)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Definitive
|
|
|
RYR1
(HGNC:10483)
|
central core myopathy
(MONDO_0007294)
|
Definitive
|
|
|
CLIP1
(HGNC:10461)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
RYR1
(HGNC:10483)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Limited
|
|
|
RUNX1
(HGNC:10471)
|
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
(MONDO_0100083)
|
Definitive
|
|
|
RYR1
(HGNC:10483)
|
malignant hyperthermia, susceptibility to, 1
(MONDO_0007783)
|
Definitive
|
|
|
RYR1
(HGNC:10483)
|
malignant hyperthermia of anesthesia
(MONDO_0018493)
|
Definitive
|
|
|
RYR1
(HGNC:10483)
|
congenital multicore myopathy with external ophthalmoplegia
(MONDO_0009712)
|
Definitive
|
|
|
RPS26
(HGNC:10414)
|
Diamond-Blackfan anemia 10
(MONDO_0013217)
|
Strong
|
|
|
RYR2
(HGNC:10484)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Strong
|
|
|
RYR2
(HGNC:10484)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
RYR2
(HGNC:10484)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Strong
|
|
|
RYR1
(HGNC:10483)
|
King-Denborough syndrome
(MONDO_0020485)
|
Moderate
|
|
|
RYR3
(HGNC:10485)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
RYR2
(HGNC:10484)
|
catecholaminergic polymorphic ventricular tachycardia 1
(MONDO_0011484)
|
Definitive
|
|
|
BIK
(HGNC:1051)
|
prostate cancer
(MONDO_0008315)
|
Moderate
|
|
|
SAG
(HGNC:10521)
|
Oguchi disease
(MONDO_0019152)
|
Definitive
|
|
|
SARDH
(HGNC:10536)
|
sarcosinemia
(MONDO_0010008)
|
Limited
|
|
|
SAG
(HGNC:10521)
|
retinitis pigmentosa
(MONDO_0019200)
|
Refuted
|
|
|
BIN1
(HGNC:1052)
|
autosomal dominant centronuclear myopathy
(MONDO_0008048)
|
Strong
|
|
|
SATB1
(HGNC:10541)
|
developmental delay with dysmorphic facies and dental anomalies
(MONDO_0030988)
|
Strong
|
|
|
SBF1
(HGNC:10542)
|
Charcot-Marie-Tooth disease type 4B3
(MONDO_0014117)
|
Limited
|
|
|
MSMO1
(HGNC:10545)
|
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
(MONDO_0014793)
|
Strong
|
|
|
BIN1
(HGNC:1052)
|
centronuclear myopathy
(MONDO_0018947)
|
Definitive
|
|
|
SATB1
(HGNC:10541)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
ATXN1
(HGNC:10548)
|
spinocerebellar ataxia type 1
(MONDO_0008119)
|
Strong
|
|
|
ATXN10
(HGNC:10549)
|
spinocerebellar ataxia type 10
(MONDO_0011330)
|
Definitive
|
|
|
ATXN7
(HGNC:10560)
|
autosomal dominant cerebellar ataxia type II
(MONDO_0016163)
|
Strong
|
|
|
ATXN2
(HGNC:10555)
|
spinocerebellar ataxia type 2
(MONDO_0008458)
|
Definitive
|
|
|
BLK
(HGNC:1057)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
BLK
(HGNC:1057)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
BLK
(HGNC:1057)
|
monogenic diabetes
(MONDO_0015967)
|
Limited
|
|
|
SCN10A
(HGNC:10582)
|
Brugada syndrome
(MONDO_0015263)
|
Strong
|
|
|
SCN1A
(HGNC:10585)
|
migraine, familial hemiplegic, 3
(MONDO_0012320)
|
Strong
|
|
|
SCN1A
(HGNC:10585)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Limited
|
|
|
SCN1A
(HGNC:10585)
|
familial hemiplegic migraine
(MONDO_0000700)
|
Strong
|
|
|
SCN1A
(HGNC:10585)
|
Lennox-Gastaut syndrome
(MONDO_0016532)
|
Limited
|
|
|
SCN1A
(HGNC:10585)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
SCN1A
(HGNC:10585)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
SCN1A
(HGNC:10585)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Definitive
|
|
|
SCN1A
(HGNC:10585)
|
Dravet syndrome
(MONDO_0100135)
|
Definitive
|
|
|
SCN1B
(HGNC:10586)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
SCN1B
(HGNC:10586)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Strong
|
|
|
SCN2A
(HGNC:10588)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
SCN2A
(HGNC:10588)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Definitive
|
|
|
SCN2A
(HGNC:10588)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
SCN2A
(HGNC:10588)
|
seizures, benign familial infantile, 3
(MONDO_0011904)
|
Strong
|
|
|
SCN2A
(HGNC:10588)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Moderate
|
|
|
SCN2A
(HGNC:10588)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
SCN2B
(HGNC:10589)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
BLM
(HGNC:1058)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
SCN4A
(HGNC:10591)
|
paramyotonia congenita of Von Eulenburg
(MONDO_0008195)
|
Definitive
|
|
|
BLM
(HGNC:1058)
|
osteosarcoma
(MONDO_0009807)
|
Limited
|
|
|
BLM
(HGNC:1058)
|
Bloom syndrome
(MONDO_0008876)
|
Definitive
|
|
|
SCN4A
(HGNC:10591)
|
hypokalemic periodic paralysis
(MONDO_0008223)
|
Strong
|
|
|
SCN4A
(HGNC:10591)
|
hyperkalemic periodic paralysis
(MONDO_0008224)
|
Definitive
|
|
|
BLM
(HGNC:1058)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Limited
|
|
|
SCN4A
(HGNC:10591)
|
hypokalemic periodic paralysis, type 2
(MONDO_0013234)
|
Moderate
|
|
|
SCN4A
(HGNC:10591)
|
potassium-aggravated myotonia
(MONDO_0018959)
|
Definitive
|
|
|
SCN3A
(HGNC:10590)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
SCN4B
(HGNC:10592)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
SCN4A
(HGNC:10591)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
SCN5A
(HGNC:10593)
|
short QT syndrome
(MONDO_0000453)
|
Disputed
|
|
|
SCN4A
(HGNC:10591)
|
myotonia permanens
(MONDO_0020482)
|
Strong
|
|
|
SCN5A
(HGNC:10593)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
SCN5A
(HGNC:10593)
|
progressive familial heart block, type 1A
(MONDO_0007240)
|
Moderate
|
|
|
SCN5A
(HGNC:10593)
|
atrial standstill
(MONDO_0015281)
|
Moderate
|
|
|
SCN5A
(HGNC:10593)
|
Brugada syndrome
(MONDO_0015263)
|
Definitive
|
|
|
SCN5A
(HGNC:10593)
|
familial sick sinus syndrome
(MONDO_0012061)
|
Strong
|
|
|
SCN5A
(HGNC:10593)
|
long QT syndrome 3
(MONDO_0011377)
|
Definitive
|
|
|
SCN5A
(HGNC:10593)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
SCN5A
(HGNC:10593)
|
familial atrial fibrillation
(MONDO_0018054)
|
Limited
|
|
|
SCN5A
(HGNC:10593)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Disputed
|
|
|
SCN5A
(HGNC:10593)
|
familial long QT syndrome
(MONDO_0019171)
|
Strong
|
|
|
SCN5A
(HGNC:10593)
|
paroxysmal familial ventricular fibrillation
(MONDO_0100234)
|
Moderate
|
|
|
SCN8A
(HGNC:10596)
|
cognitive impairment with or without cerebellar ataxia
(MONDO_0013680)
|
Moderate
|
|
|
SCN8A
(HGNC:10596)
|
developmental and epileptic encephalopathy, 13
(MONDO_0013801)
|
Moderate
|
|
|
SCN8A
(HGNC:10596)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Moderate
|
|
|
SCN9A
(HGNC:10597)
|
primary erythermalgia
(MONDO_0007571)
|
Definitive
|
|
|
SCN9A
(HGNC:10597)
|
paroxysmal extreme pain disorder
(MONDO_0008179)
|
Definitive
|
|
|
SCN9A
(HGNC:10597)
|
channelopathy-associated congenital insensitivity to pain, autosomal recessive
(MONDO_0009459)
|
Definitive
|
|
|
SCN9A
(HGNC:10597)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|
|
SCNN1A
(HGNC:10599)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
SCNN1G
(HGNC:10602)
|
pseudohypoaldosteronism, type IB1, autosomal recessive
(MONDO_0009917)
|
Limited
|
|
|
SCNN1A
(HGNC:10599)
|
pseudohypoaldosteronism, type IB1, autosomal recessive
(MONDO_0009917)
|
Strong
|
|
|
SCNN1B
(HGNC:10600)
|
pseudohypoaldosteronism, type IB1, autosomal recessive
(MONDO_0009917)
|
Limited
|
|
|
SCO2
(HGNC:10604)
|
Leigh syndrome
(MONDO_0009723)
|
Definitive
|
|
|
SCP2
(HGNC:10606)
|
sterol carrier protein 2 deficiency
(MONDO_0013391)
|
Limited
|
|
|
AIMP1
(HGNC:10648)
|
hypomyelinating leukodystrophy 3
(MONDO_0009843)
|
Limited
|
|
|
SCO1
(HGNC:10603)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
TSHZ1
(HGNC:10669)
|
congenital vertical talus
(MONDO_0008652)
|
Moderate
|
|
|
TSHZ1
(HGNC:10669)
|
aural atresia, congenital
(MONDO_0011921)
|
Strong
|
|
|
SDHA
(HGNC:10680)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
SDCCAG8
(HGNC:10671)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
SDCCAG8
(HGNC:10671)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Limited
|
|
|
SDHA
(HGNC:10680)
|
gastrointestinal stromal tumor
(MONDO_0011719)
|
Strong
|
|
|
SDHA
(HGNC:10680)
|
mitochondrial complex II deficiency, nuclear type 1
(MONDO_0100294)
|
Strong
|
|
|
SDHB
(HGNC:10681)
|
pheochromocytoma
(MONDO_0008233)
|
Strong
|
|
|
SDHB
(HGNC:10681)
|
renal cell carcinoma
(MONDO_0005086)
|
Strong
|
|
|
SDHB
(HGNC:10681)
|
gastrointestinal stromal tumor
(MONDO_0011719)
|
Strong
|
|
|
SDHB
(HGNC:10681)
|
Carney-Stratakis syndrome
(MONDO_0011740)
|
Strong
|
|
|
SDHB
(HGNC:10681)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
SDHB
(HGNC:10681)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SDHC
(HGNC:10682)
|
renal cell carcinoma
(MONDO_0005086)
|
Moderate
|
|
|
SDHC
(HGNC:10682)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
SDHC
(HGNC:10682)
|
Carney-Stratakis syndrome
(MONDO_0011740)
|
Moderate
|
|
|
SDHD
(HGNC:10683)
|
renal cell carcinoma
(MONDO_0005086)
|
Limited
|
|
|
SDHC
(HGNC:10682)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
SDHD
(HGNC:10683)
|
paragangliomas 1
(MONDO_0008192)
|
Definitive
|
|
|
SDHD
(HGNC:10683)
|
pheochromocytoma
(MONDO_0008233)
|
Definitive
|
|
|
SDHD
(HGNC:10683)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
SDHD
(HGNC:10683)
|
Carney-Stratakis syndrome
(MONDO_0011740)
|
Strong
|
|
|
BMP2
(HGNC:1069)
|
brachydactyly type A2
(MONDO_0007216)
|
Strong
|
|
|
SDHD
(HGNC:10683)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
SEC23B
(HGNC:10702)
|
Cowden disease
(MONDO_0016063)
|
Moderate
|
|
|
SDHC
(HGNC:10682)
|
gastrointestinal stromal tumor
(MONDO_0011719)
|
Strong
|
|
|
SEC23B
(HGNC:10702)
|
congenital dyserythropoietic anemia type 2
(MONDO_0009134)
|
Definitive
|
|
|
SEC23B
(HGNC:10702)
|
congenital dyserythropoietic anemia
(MONDO_0019403)
|
Definitive
|
|
|
SEC24D
(HGNC:10706)
|
Cole-Carpenter syndrome 2
(MONDO_0014573)
|
Limited
|
|
|
SEC24D
(HGNC:10706)
|
Cole-Carpenter syndrome
(MONDO_0016085)
|
Limited
|
|
|
SELENBP1
(HGNC:10719)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
SEMA4A
(HGNC:10729)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
SEMA4A
(HGNC:10729)
|
familial colorectal cancer type X
(MONDO_0018604)
|
Strong
|
|
|
BMP4
(HGNC:1071)
|
Stickler syndrome
(MONDO_0019354)
|
Limited
|
|
|
BMPR1A
(HGNC:1076)
|
hereditary mixed polyposis syndrome
(MONDO_0011023)
|
Strong
|
|
|
SF3B4
(HGNC:10771)
|
Nager acrofacial dysostosis
(MONDO_0007943)
|
Definitive
|
|
|
SET
(HGNC:10760)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
BMPR1A
(HGNC:1076)
|
juvenile polyposis syndrome
(MONDO_0017380)
|
Definitive
|
|
|
SEMA3A
(HGNC:10723)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
SEMA3A
(HGNC:10723)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
SEMA3E
(HGNC:10727)
|
CHARGE syndrome
(MONDO_0008965)
|
Limited
|
|
|
SEMA3E
(HGNC:10727)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
SEMA4A
(HGNC:10729)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
SFRP4
(HGNC:10778)
|
Pyle disease
(MONDO_0009943)
|
Strong
|
|
|
SF3B4
(HGNC:10771)
|
acrofacial dysostosis Rodriguez type
(MONDO_0008714)
|
Strong
|
|
|
BMPR1B
(HGNC:1077)
|
brachydactyly type A1
(MONDO_0007215)
|
Limited
|
|
|
BMPR1B
(HGNC:1077)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
BMPR1B
(HGNC:1077)
|
acromesomelic dysplasia 2A
(MONDO_0008703)
|
Strong
|
|
|
SFTPB
(HGNC:10801)
|
surfactant metabolism dysfunction, pulmonary, 1
(MONDO_0009929)
|
Strong
|
|
|
BMPR2
(HGNC:1078)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Definitive
|
|
|
BMPR2
(HGNC:1078)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
BMPR2
(HGNC:1078)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
SFTPA2
(HGNC:10799)
|
interstitial lung disease 2
(MONDO_0800029)
|
Strong
|
|
|
SGCD
(HGNC:10807)
|
autosomal recessive limb-girdle muscular dystrophy type 2F
(MONDO_0011028)
|
Moderate
|
|
|
SGCA
(HGNC:10805)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Strong
|
|
|
SGCD
(HGNC:10807)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Moderate
|
|
|
SGK3
(HGNC:10812)
|
hypophosphatemic rickets
(MONDO_0024300)
|
Limited
|
|
|
SGCG
(HGNC:10809)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Limited
|
|
|
SGCB
(HGNC:10806)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Strong
|
|
|
SH2D1A
(HGNC:10820)
|
X-linked lymphoproliferative disease due to SH2D1A deficiency
(MONDO_0024551)
|
Strong
|
|
|
SGPL1
(HGNC:10817)
|
nephrotic syndrome 14
(MONDO_0033203)
|
Strong
|
|
|
BMPR1B
(HGNC:1077)
|
brachydactyly type A2
(MONDO_0007216)
|
Strong
|
|
|
SH3BP2
(HGNC:10825)
|
cherubism
(MONDO_0007315)
|
Definitive
|
|
|
SGCD
(HGNC:10807)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
SHH
(HGNC:10848)
|
solitary median maxillary central incisor syndrome
(MONDO_0007819)
|
Limited
|
|
|
SHH
(HGNC:10848)
|
triphalangeal thumb-polysyndactyly syndrome
(MONDO_0017454)
|
Limited
|
|
|
SHOX
(HGNC:10853)
|
SHOX-related short stature
(MONDO_0010367)
|
Definitive
|
|
|
ST8SIA2
(HGNC:10870)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
ST3GAL3
(HGNC:10866)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
SIX3
(HGNC:10889)
|
holoprosencephaly
(MONDO_0016296)
|
Definitive
|
|
|
SIX1
(HGNC:10887)
|
branchiootic syndrome
(MONDO_0018878)
|
Strong
|
|
|
SKIC2
(HGNC:10898)
|
trichohepatoenteric syndrome
(MONDO_0009105)
|
Definitive
|
|
|
SIX1
(HGNC:10887)
|
branchio-oto-renal syndrome
(MONDO_0007029)
|
Moderate
|
|
|
SIX5
(HGNC:10891)
|
branchio-oto-renal syndrome
(MONDO_0007029)
|
Limited
|
|
|
VPS4B
(HGNC:10895)
|
dentin dysplasia type I
(MONDO_0007436)
|
Limited
|
|
|
SLC10A1
(HGNC:10905)
|
hypercholanemia, familial, 2
(MONDO_0031003)
|
Definitive
|
|
|
SLC11A2
(HGNC:10908)
|
microcytic anemia with liver iron overload
(MONDO_0008787)
|
Strong
|
|
|
SLC12A2
(HGNC:10911)
|
syndromic intellectual disability
(MONDO_0000508)
|
Moderate
|
|
|
DST
(HGNC:1090)
|
hereditary sensory and autonomic neuropathy type 6
(MONDO_0013839)
|
Moderate
|
|
|
SLC12A2
(HGNC:10911)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
SLC11A1
(HGNC:10907)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
STIL
(HGNC:10879)
|
holoprosencephaly
(MONDO_0016296)
|
Limited
|
|
|
SLC12A3
(HGNC:10912)
|
Gitelman syndrome
(MONDO_0009904)
|
Definitive
|
|
|
SLC16A1
(HGNC:10922)
|
exercise-induced hyperinsulinism
(MONDO_0012396)
|
Strong
|
|
|
SLC16A1
(HGNC:10922)
|
ketoacidosis due to monocarboxylate transporter-1 deficiency
(MONDO_0014490)
|
Strong
|
|
|
SLC17A5
(HGNC:10933)
|
free sialic acid storage disease
(MONDO_0019366)
|
Moderate
|
|
|
STIL
(HGNC:10879)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
SLC17A5
(HGNC:10933)
|
free sialic acid storage disease, infantile form
(MONDO_0010027)
|
Strong
|
|
|
SLC12A6
(HGNC:10914)
|
agenesis of the corpus callosum with peripheral neuropathy
(MONDO_0000902)
|
Definitive
|
|
|
SLC18A2
(HGNC:10935)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
SLC18A3
(HGNC:10936)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Limited
|
|
|
SLC18A2
(HGNC:10935)
|
brain dopamine-serotonin vesicular transport disease
(MONDO_0018130)
|
Definitive
|
|
|
SLC1A1
(HGNC:10939)
|
hot water reflex epilepsy
(MONDO_0013229)
|
Moderate
|
|
|
SLC1A4
(HGNC:10942)
|
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
(MONDO_0014725)
|
Strong
|
|
|
SLC1A3
(HGNC:10941)
|
episodic ataxia type 6
(MONDO_0012982)
|
Strong
|
|
|
SLCO2A1
(HGNC:10955)
|
chronic enteropathy associated with SLCO2A1 gene
(MONDO_0018766)
|
Definitive
|
|
|
SLCO2A1
(HGNC:10955)
|
hypertrophic osteoarthropathy, primary, autosomal recessive, 2
(MONDO_0013756)
|
Strong
|
|
|
SLCO1B1
(HGNC:10959)
|
Rotor syndrome
(MONDO_0009379)
|
Definitive
|
|
|
SLC22A5
(HGNC:10969)
|
short QT syndrome
(MONDO_0000453)
|
Limited
|
|
|
SLCO1B3
(HGNC:10961)
|
Rotor syndrome
(MONDO_0009379)
|
Definitive
|
|
|
SLC24A4
(HGNC:10978)
|
amelogenesis imperfecta type 2
(MONDO_0015048)
|
Definitive
|
|
|
SLC25A1
(HGNC:10979)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
SLC25A1
(HGNC:10979)
|
D,L-2-hydroxyglutaric aciduria
(MONDO_0014072)
|
Strong
|
|
|
BRAF
(HGNC:1097)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Limited
|
|
|
BRAF
(HGNC:1097)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Definitive
|
|
|
BRAF
(HGNC:1097)
|
Costello syndrome
(MONDO_0009026)
|
Limited
|
|
|
BRAF
(HGNC:1097)
|
anaplastic astrocytoma
(MONDO_0016684)
|
Moderate
|
|
|
SLC25A10
(HGNC:10980)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
BRAF
(HGNC:1097)
|
Noonan syndrome
(MONDO_0018997)
|
Moderate
|
|
|
SLC25A13
(HGNC:10983)
|
neonatal intrahepatic cholestasis due to citrin deficiency
(MONDO_0011601)
|
Definitive
|
|
|
SLC25A12
(HGNC:10982)
|
developmental and epileptic encephalopathy, 39
(MONDO_0013056)
|
Moderate
|
|
|
SLC25A13
(HGNC:10983)
|
citrin deficiency
(MONDO_0016602)
|
Definitive
|
|
|
SLC25A12
(HGNC:10982)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
SLC25A13
(HGNC:10983)
|
citrullinemia type II
(MONDO_0016603)
|
Definitive
|
|
|
SLC25A4
(HGNC:10990)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
SLC25A15
(HGNC:10985)
|
ornithine translocase deficiency
(MONDO_0009393)
|
Strong
|
|
|
SLC25A5
(HGNC:10991)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
SLC26A2
(HGNC:10994)
|
achondrogenesis type IB
(MONDO_0010966)
|
Strong
|
|
|
SLC26A2
(HGNC:10994)
|
multiple epiphyseal dysplasia type 4
(MONDO_0009189)
|
Definitive
|
|
|
SLC25A4
(HGNC:10990)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SLC2A1
(HGNC:11005)
|
GLUT1 deficiency syndrome
(MONDO_0000188)
|
Definitive
|
|
|
SLC27A4
(HGNC:10998)
|
ichthyosis prematurity syndrome
(MONDO_0012089)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
childhood absence epilepsy
(MONDO_0010826)
|
Limited
|
|
|
SLC26A2
(HGNC:10994)
|
atelosteogenesis type II
(MONDO_0009727)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
childhood onset GLUT1 deficiency syndrome 2
(MONDO_0012805)
|
Definitive
|
|
|
SLC2A1
(HGNC:11005)
|
encephalopathy due to GLUT1 deficiency
(MONDO_0011724)
|
Definitive
|
|
|
SLC2A2
(HGNC:11006)
|
glycogen storage disease due to GLUT2 deficiency
(MONDO_0009216)
|
Definitive
|
|
|
SLC2A2
(HGNC:11006)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Limited
|
|
|
SLC2A1
(HGNC:11005)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Moderate
|
|
|
BRCA1
(HGNC:1100)
|
Fanconi anemia
(MONDO_0019391)
|
Moderate
|
|
|
SLC2A2
(HGNC:11006)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Moderate
|
|
|
SLC34A1
(HGNC:11019)
|
primary Fanconi syndrome
(MONDO_0007600)
|
Strong
|
|
|
BRCA2
(HGNC:1101)
|
sarcoma
(MONDO_0005089)
|
Limited
|
|
|
BRCA2
(HGNC:1101)
|
medulloblastoma
(MONDO_0007959)
|
Moderate
|
|
|
BRCA2
(HGNC:1101)
|
Fanconi anemia complementation group D1
(MONDO_0011584)
|
Strong
|
|
|
BRCA2
(HGNC:1101)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
SLC4A1
(HGNC:11027)
|
southeast Asian ovalocytosis
(MONDO_0008165)
|
Definitive
|
|
|
SLC35A2
(HGNC:11022)
|
SLC35A2-congenital disorder of glycosylation
(MONDO_0010478)
|
Strong
|
|
|
SLC4A1
(HGNC:11027)
|
cryohydrocytosis
(MONDO_0008494)
|
Limited
|
|
|
SLC4A1
(HGNC:11027)
|
hereditary spherocytosis
(MONDO_0019350)
|
Definitive
|
|
|
SLC4A3
(HGNC:11029)
|
short QT syndrome
(MONDO_0000453)
|
Strong
|
|
|
SLC5A1
(HGNC:11036)
|
glucose-galactose malabsorption
(MONDO_0011731)
|
Definitive
|
|
|
SLC6A14
(HGNC:11047)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
SLC5A6
(HGNC:11041)
|
neurodegeneration, infantile-onset, biotin-responsive
(MONDO_0033546)
|
Strong
|
|
|
SLC5A5
(HGNC:11040)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Definitive
|
|
|
SLC6A4
(HGNC:11050)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SLC6A2
(HGNC:11048)
|
postural orthostatic tachycardia syndrome
(MONDO_0011479)
|
Disputed
|
|
|
SLC6A3
(HGNC:11049)
|
parkinsonism-dystonia, infantile
(MONDO_0013150)
|
Definitive
|
|
|
SLC6A9
(HGNC:11056)
|
atypical glycine encephalopathy
(MONDO_0015010)
|
Strong
|
|
|
SLC9A1
(HGNC:11071)
|
Lichtenstein-Knorr syndrome
(MONDO_0014572)
|
Strong
|
|
|
SLC7A3
(HGNC:11061)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
SLC9A3
(HGNC:11073)
|
cystic fibrosis
(MONDO_0009061)
|
Strong
|
|
|
SLC9A3
(HGNC:11073)
|
congenital sodium diarrhea
(MONDO_0015170)
|
Strong
|
|
|
SNAI2
(HGNC:11094)
|
Waardenburg syndrome
(MONDO_0018094)
|
Limited
|
|
|
SNAI2
(HGNC:11094)
|
Waardenburg syndrome type 2
(MONDO_0019517)
|
Limited
|
|
|
SMARCA1
(HGNC:11097)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
SMARCA1
(HGNC:11097)
|
X-linked intellectual disability
(MONDO_0100284)
|
Limited
|
|
|
SMARCA4
(HGNC:11100)
|
rhabdoid tumor predisposition syndrome 2
(MONDO_0013224)
|
Moderate
|
|
|
SMARCA4
(HGNC:11100)
|
familial rhabdoid tumor
(MONDO_0016473)
|
Limited
|
|
|
SMARCA4
(HGNC:11100)
|
intellectual disability, autosomal dominant 16
(MONDO_0013821)
|
Moderate
|
|
|
SMARCB1
(HGNC:11103)
|
schwannomatosis
(MONDO_0008075)
|
Strong
|
|
|
SMARCA4
(HGNC:11100)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
SMARCB1
(HGNC:11103)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Definitive
|
|
|
SMARCB1
(HGNC:11103)
|
rhabdoid tumor predisposition syndrome 1
(MONDO_0012252)
|
Limited
|
|
|
SMARCD2
(HGNC:11107)
|
specific granule deficiency
(MONDO_0009506)
|
Moderate
|
|
|
SMARCB1
(HGNC:11103)
|
familial rhabdoid tumor
(MONDO_0016473)
|
Strong
|
|
|
SMARCC2
(HGNC:11105)
|
Coffin-Siris syndrome 8
(MONDO_0032702)
|
Strong
|
|
|
SMN1
(HGNC:11117)
|
spinal muscular atrophy, type II
(MONDO_0009673)
|
Definitive
|
|
|
SMPD1
(HGNC:11120)
|
acid sphingomyelinase deficiency
(MONDO_0100464)
|
Definitive
|
|
|
ARID1A
(HGNC:11110)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
SMPX
(HGNC:11122)
|
hearing loss, X-linked 4
(MONDO_0010238)
|
Strong
|
|
|
SNCA
(HGNC:11138)
|
parkinsonian-pyramidal syndrome
(MONDO_0009830)
|
Limited
|
|
|
SNCA
(HGNC:11138)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
SIK1
(HGNC:11142)
|
early myoclonic encephalopathy
(MONDO_0016022)
|
Strong
|
|
|
SNCA
(HGNC:11138)
|
Lewy body dementia
(MONDO_0007488)
|
Definitive
|
|
|
SIK1
(HGNC:11142)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
SIK1
(HGNC:11142)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
SNX3
(HGNC:11174)
|
MMEP syndrome
(MONDO_0011045)
|
Disputed
|
|
|
SNTA1
(HGNC:11167)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
SOD1
(HGNC:11179)
|
amyotrophic lateral sclerosis type 1
(MONDO_0007103)
|
Definitive
|
|
|
SOD1
(HGNC:11179)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Definitive
|
|
|
BSN
(HGNC:1117)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
CAPN15
(HGNC:11182)
|
oculogastrointestinal-neurodevelopmental syndrome
(MONDO_0036189)
|
Strong
|
|
|
SOS1
(HGNC:11187)
|
Costello syndrome
(MONDO_0009026)
|
Limited
|
|
|
SORD
(HGNC:11184)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Moderate
|
|
|
KDM5C
(HGNC:11114)
|
syndromic X-linked intellectual disability Claes-Jensen type
(MONDO_0010355)
|
Definitive
|
|
|
SMO
(HGNC:11119)
|
congenital hypothalamic hamartoma syndrome
(MONDO_0009436)
|
Limited
|
|
|
SMO
(HGNC:11119)
|
Curry-Jones syndrome
(MONDO_0011134)
|
Strong
|
|
|
SORD
(HGNC:11184)
|
neuronopathy, distal hereditary motor, autosomal recessive 8
(MONDO_0030055)
|
Strong
|
|
|
SMN1
(HGNC:11117)
|
spinal muscular atrophy, type III
(MONDO_0009672)
|
Strong
|
|
|
SOS1
(HGNC:11187)
|
hereditary gingival fibromatosis
(MONDO_0016070)
|
Limited
|
|
|
SMPD1
(HGNC:11120)
|
Niemann-Pick disease type A
(MONDO_0009756)
|
Definitive
|
|
|
SOX10
(HGNC:11190)
|
PCWH syndrome
(MONDO_0012198)
|
Moderate
|
|
|
SOS1
(HGNC:11187)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Moderate
|
|
|
SMO
(HGNC:11119)
|
medulloblastoma
(MONDO_0007959)
|
Limited
|
|
|
SOX11
(HGNC:11191)
|
intellectual disability, autosomal dominant 27
(MONDO_0014376)
|
Strong
|
|
|
SOX11
(HGNC:11191)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Definitive
|
|
|
SOX2
(HGNC:11195)
|
anophthalmia/microphthalmia-esophageal atresia syndrome
(MONDO_0008799)
|
Definitive
|
|
|
SOX3
(HGNC:11199)
|
septooptic dysplasia
(MONDO_0008428)
|
Limited
|
|
|
SOX3
(HGNC:11199)
|
panhypopituitarism, X-linked
(MONDO_0010712)
|
Moderate
|
|
|
SOX3
(HGNC:11199)
|
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
|
Limited
|
|
|
SOX3
(HGNC:11199)
|
panhypopituitarism
(MONDO_0019591)
|
Moderate
|
|
|
SOX4
(HGNC:11200)
|
atrial fibrillation
(MONDO_0004981)
|
Limited
|
|
|
SOS2
(HGNC:11188)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
SOX10
(HGNC:11190)
|
Waardenburg syndrome type 4C
(MONDO_0013202)
|
Limited
|
|
|
SOX4
(HGNC:11200)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Limited
|
|
|
SOX9
(HGNC:11204)
|
isolated Pierre-Robin syndrome
(MONDO_0009869)
|
Limited
|
|
|
SOX9
(HGNC:11204)
|
campomelic dysplasia
(MONDO_0007251)
|
Definitive
|
|
|
SOX2
(HGNC:11195)
|
septooptic dysplasia
(MONDO_0008428)
|
Definitive
|
|
|
SOX9
(HGNC:11204)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Moderate
|
|
|
SOS1
(HGNC:11187)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
SOX9
(HGNC:11204)
|
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
|
Limited
|
|
|
SMARCE1
(HGNC:11109)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Definitive
|
|
|
SPAG1
(HGNC:11212)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
SMPD1
(HGNC:11120)
|
Niemann-Pick disease
(MONDO_0001982)
|
Definitive
|
|
|
SPARC
(HGNC:11219)
|
osteogenesis imperfecta type 4
(MONDO_0008148)
|
Moderate
|
|
|
SOX10
(HGNC:11190)
|
deaf blind hypopigmentation syndrome, Yemenite type
(MONDO_0011133)
|
Limited
|
|
|
SPG11
(HGNC:11226)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Moderate
|
|
|
ATL1
(HGNC:11231)
|
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
|
Moderate
|
|
|
SOX10
(HGNC:11190)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
SMPD1
(HGNC:11120)
|
Niemann-Pick disease type B
(MONDO_0011871)
|
Definitive
|
|
|
SPG7
(HGNC:11237)
|
lateral sclerosis
(MONDO_0018155)
|
Moderate
|
|
|
SOX10
(HGNC:11190)
|
Waardenburg syndrome type 2
(MONDO_0019517)
|
Definitive
|
|
|
SPG7
(HGNC:11237)
|
hereditary spastic paraplegia 7
(MONDO_0011803)
|
Strong
|
|
|
SPINK1
(HGNC:11244)
|
tropical pancreatitis
(MONDO_0011986)
|
Strong
|
|
|
SPINK1
(HGNC:11244)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Moderate
|
|
|
SPINT2
(HGNC:11247)
|
syndromic congenital sodium diarrhea
(MONDO_0034204)
|
Definitive
|
|
|
SPP1
(HGNC:11255)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
SPTAN1
(HGNC:11273)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
SPTAN1
(HGNC:11273)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
SPTLC2
(HGNC:11278)
|
neuropathy, hereditary sensory and autonomic, type 1C
(MONDO_0013337)
|
Strong
|
|
|
SPTLC2
(HGNC:11278)
|
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
|
Strong
|
|
|
SQSTM1
(HGNC:11280)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
SQSTM1
(HGNC:11280)
|
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
(MONDO_0014940)
|
Limited
|
|
|
SRC
(HGNC:11283)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
SRD5A2
(HGNC:11285)
|
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
(MONDO_0009923)
|
Definitive
|
|
|
SREBF1
(HGNC:11289)
|
hereditary mucoepithelial dysplasia
(MONDO_0008017)
|
Limited
|
|
|
SREBF1
(HGNC:11289)
|
Hirschsprung disease
(MONDO_0018309)
|
Limited
|
|
|
SREBF2
(HGNC:11290)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Moderate
|
|
|
SRP54
(HGNC:11301)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Strong
|
|
|
SRY
(HGNC:11311)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Definitive
|
|
|
SRY
(HGNC:11311)
|
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
|
Refuted
|
|
|
SRY
(HGNC:11311)
|
46,XY partial gonadal dysgenesis
(MONDO_0016674)
|
Limited
|
|
|
SSBP1
(HGNC:11317)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
BTK
(HGNC:1133)
|
Bruton-type agammaglobulinemia
(MONDO_0010421)
|
Definitive
|
|
|
SSR4
(HGNC:11326)
|
SSR4-congenital disorder of glycosylation
(MONDO_0010490)
|
Strong
|
|
|
BTK
(HGNC:1133)
|
isolated growth hormone deficiency type III
(MONDO_0010615)
|
Refuted
|
|
|
STAG2
(HGNC:11355)
|
Mullegama-Klein-Martinez syndrome
(MONDO_0026722)
|
Limited
|
|
|
ST14
(HGNC:11344)
|
autosomal recessive congenital ichthyosis 11
(MONDO_0011218)
|
Moderate
|
|
|
STK11
(HGNC:11389)
|
familial pancreatic carcinoma
(MONDO_0015278)
|
Limited
|
|
|
STAT1
(HGNC:11362)
|
immunodeficiency 31B
(MONDO_0013427)
|
Moderate
|
|
|
STK11
(HGNC:11389)
|
familial ovarian cancer
(MONDO_0016248)
|
Limited
|
|
|
AURKA
(HGNC:11393)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
STAT4
(HGNC:11365)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
SRPK3
(HGNC:11402)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
BRSK2
(HGNC:11405)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
STIM1
(HGNC:11386)
|
combined immunodeficiency due to STIM1 deficiency
(MONDO_0013008)
|
Moderate
|
|
|
STK4
(HGNC:11408)
|
combined immunodeficiency due to STK4 deficiency
(MONDO_0013934)
|
Strong
|
|
|
CDKL5
(HGNC:11411)
|
atypical Rett syndrome
(MONDO_0017746)
|
Definitive
|
|
|
STAT5B
(HGNC:11367)
|
growth hormone insensitivity syndrome
(MONDO_0015892)
|
Strong
|
|
|
CDKL5
(HGNC:11411)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
CDKL5
(HGNC:11411)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
STS
(HGNC:11425)
|
recessive X-linked ichthyosis
(MONDO_0010622)
|
Definitive
|
|
|
STUB1
(HGNC:11427)
|
autosomal recessive spinocerebellar ataxia 16
(MONDO_0014339)
|
Strong
|
|
|
STK11
(HGNC:11389)
|
Peutz-Jeghers syndrome
(MONDO_0008280)
|
Definitive
|
|
|
STUB1
(HGNC:11427)
|
spinocerebellar ataxia 48
(MONDO_0032526)
|
Strong
|
|
|
STX11
(HGNC:11429)
|
familial hemophagocytic lymphohistiocytosis 4
(MONDO_0011336)
|
Definitive
|
|
|
STX16
(HGNC:11431)
|
pseudohypoparathyroidism type 1B
(MONDO_0011301)
|
Strong
|
|
|
STX1A
(HGNC:11433)
|
cystic fibrosis
(MONDO_0009061)
|
Moderate
|
|
|
STXBP1
(HGNC:11444)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
STXBP1
(HGNC:11444)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
STXBP1
(HGNC:11444)
|
developmental and epileptic encephalopathy, 4
(MONDO_0012812)
|
Definitive
|
|
|
STXBP1
(HGNC:11444)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
STXBP1
(HGNC:11444)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
STXBP2
(HGNC:11445)
|
microvillus inclusion disease
(MONDO_0009635)
|
Limited
|
|
|
STXBP2
(HGNC:11445)
|
familial hemophagocytic lymphohistiocytosis 5
(MONDO_0013135)
|
Definitive
|
|
|
SUCLA2
(HGNC:11448)
|
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
(MONDO_0012791)
|
Strong
|
|
|
SUCLA2
(HGNC:11448)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
SUCLG1
(HGNC:11449)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
BUB1
(HGNC:1148)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
SUCLG1
(HGNC:11449)
|
mitochondrial DNA depletion syndrome 9
(MONDO_0009504)
|
Strong
|
|
|
SYNGAP1
(HGNC:11497)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Moderate
|
|
|
SYNGAP1
(HGNC:11497)
|
SYNGAP1-related developmental and epileptic encephalopathy
(MONDO_0034099)
|
Definitive
|
|
|
SYNGAP1
(HGNC:11497)
|
intellectual disability, autosomal dominant 5
(MONDO_0012960)
|
Definitive
|
|
|
SYNGR1
(HGNC:11498)
|
bipolar disorder
(MONDO_0004985)
|
Limited
|
|
|
SYNGR1
(HGNC:11498)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
BUB1B
(HGNC:1149)
|
mosaic variegated aneuploidy syndrome
(MONDO_0000141)
|
Strong
|
|
|
BUB1B
(HGNC:1149)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Limited
|
|
|
BUB1B
(HGNC:1149)
|
mosaic variegated aneuploidy syndrome 1
(MONDO_0009759)
|
Definitive
|
|
|
SYNJ1
(HGNC:11503)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Strong
|
|
|
SYNJ1
(HGNC:11503)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
SYT1
(HGNC:11509)
|
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
(MONDO_0033864)
|
Strong
|
|
|
TBXT
(HGNC:11515)
|
chordoma
(MONDO_0008978)
|
Definitive
|
|
|
TAC3
(HGNC:11521)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
TACR3
(HGNC:11528)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
TACR3
(HGNC:11528)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
EPCAM
(HGNC:11529)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
BVES
(HGNC:1152)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
SYNJ1
(HGNC:11503)
|
early-onset Parkinson disease 20
(MONDO_0014233)
|
Strong
|
|
|
EPCAM
(HGNC:11529)
|
congenital diarrhea 5 with tufting enteropathy
(MONDO_0013184)
|
Definitive
|
|
|
TAF1
(HGNC:11535)
|
X-linked dystonia-parkinsonism
(MONDO_0010747)
|
Definitive
|
|
|
TAF6
(HGNC:11540)
|
Alazami-Yuan syndrome
(MONDO_0014931)
|
Limited
|
|
|
TAF15
(HGNC:11547)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
BRF1
(HGNC:11551)
|
cerebellar-facial-dental syndrome
(MONDO_0014529)
|
Strong
|
|
|
TARDBP
(HGNC:11571)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
TARDBP
(HGNC:11571)
|
inclusion body myositis
(MONDO_0007827)
|
Limited
|
|
|
TBC1D1
(HGNC:11578)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Moderate
|
|
|
TBCE
(HGNC:11582)
|
hypoparathyroidism-retardation-dysmorphism syndrome
(MONDO_0009426)
|
Definitive
|
|
|
TBCE
(HGNC:11582)
|
autosomal recessive Kenny-Caffey syndrome
(MONDO_0009486)
|
Strong
|
|
|
TBK1
(HGNC:11584)
|
frontotemporal dementia with motor neuron disease
(MONDO_0017161)
|
Strong
|
|
|
TBP
(HGNC:11588)
|
spinocerebellar ataxia type 17
(MONDO_0011781)
|
Definitive
|
|
|
TBX1
(HGNC:11592)
|
velocardiofacial syndrome
(MONDO_0008644)
|
Strong
|
|
|
TBX1
(HGNC:11592)
|
conotruncal heart malformations
(MONDO_0016581)
|
Moderate
|
|
|
TBX15
(HGNC:11594)
|
pelviscapular dysplasia
(MONDO_0009845)
|
Moderate
|
|
|
TBX20
(HGNC:11598)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
TBX4
(HGNC:11603)
|
coxopodopatellar syndrome
(MONDO_0007841)
|
Definitive
|
|
|
TBX22
(HGNC:11600)
|
cleft palate with or without ankyloglossia, X-linked
(MONDO_0010560)
|
Definitive
|
|
|
TBX4
(HGNC:11603)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Limited
|
|
|
TBX4
(HGNC:11603)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
TBX5
(HGNC:11604)
|
Holt-Oram syndrome
(MONDO_0007732)
|
Definitive
|
|
|
TBX6
(HGNC:11605)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Moderate
|
|
|
TBXAS1
(HGNC:11609)
|
ghosal hematodiaphyseal dysplasia
(MONDO_0009274)
|
Definitive
|
|
|
TWNK
(HGNC:1160)
|
autosomal dominant progressive external ophthalmoplegia
(MONDO_0008003)
|
Strong
|
|
|
TWNK
(HGNC:1160)
|
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
(MONDO_0010060)
|
Strong
|
|
|
TCAP
(HGNC:11610)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
TWNK
(HGNC:1160)
|
Perrault syndrome
(MONDO_0017312)
|
Definitive
|
|
|
TCAP
(HGNC:11610)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
TCAP
(HGNC:11610)
|
autosomal recessive limb-girdle muscular dystrophy type 2G
(MONDO_0011170)
|
Limited
|
|
|
CEP55
(HGNC:1161)
|
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
(MONDO_0009359)
|
Strong
|
|
|
HNF1A
(HGNC:11621)
|
maturity-onset diabetes of the young type 3
(MONDO_0010894)
|
Definitive
|
|
|
HNF1A
(HGNC:11621)
|
monogenic diabetes
(MONDO_0015967)
|
Definitive
|
|
|
TCF12
(HGNC:11623)
|
TCF12-related craniosynostosis
(MONDO_0014128)
|
Definitive
|
|
|
HNF1B
(HGNC:11630)
|
renal cysts and diabetes syndrome
(MONDO_0007669)
|
Definitive
|
|
|
TCF12
(HGNC:11623)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
HNF1A
(HGNC:11621)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Definitive
|
|
|
HNF1B
(HGNC:11630)
|
unilateral multicystic dysplastic kidney
(MONDO_0019981)
|
Limited
|
|
|
HNF1B
(HGNC:11630)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Limited
|
|
|
TCF4
(HGNC:11634)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
TCF4
(HGNC:11634)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
TCF4
(HGNC:11634)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Definitive
|
|
|
TCF4
(HGNC:11634)
|
Pitt-Hopkins syndrome
(MONDO_0012589)
|
Definitive
|
|
|
ZEB1
(HGNC:11642)
|
posterior polymorphous corneal dystrophy 3
(MONDO_0012200)
|
Strong
|
|
|
ZEB1
(HGNC:11642)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Limited
|
|
|
ZEB1
(HGNC:11642)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Definitive
|
|
|
TDO2
(HGNC:11708)
|
familial hypertryptophanemia
(MONDO_0010907)
|
Limited
|
|
|
TEAD1
(HGNC:11714)
|
Aicardi syndrome
(MONDO_0010568)
|
Limited
|
|
|
TECTA
(HGNC:11720)
|
autosomal recessive nonsyndromic hearing loss 21
(MONDO_0011351)
|
Strong
|
|
|
TECTA
(HGNC:11720)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
TERT
(HGNC:11730)
|
dyskeratosis congenita
(MONDO_0015780)
|
Definitive
|
|
|
TEK
(HGNC:11724)
|
primary congenital glaucoma
(MONDO_0000365)
|
Strong
|
|
|
TERT
(HGNC:11730)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Strong
|
|
|
TERT
(HGNC:11730)
|
acute myeloid leukemia
(MONDO_0018874)
|
Strong
|
|
|
TF
(HGNC:11740)
|
atransferrinemia
(MONDO_0008846)
|
Definitive
|
|
|
TFAP2B
(HGNC:11743)
|
Char syndrome
(MONDO_0008209)
|
Definitive
|
|
|
TFG
(HGNC:11758)
|
hereditary spastic paraplegia 57
(MONDO_0014295)
|
Strong
|
|
|
TG
(HGNC:11764)
|
thyroid cancer
(MONDO_0002108)
|
Limited
|
|
|
TFR2
(HGNC:11762)
|
hemochromatosis type 3
(MONDO_0011417)
|
Strong
|
|
|
TGFB1
(HGNC:11766)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
TGFB1
(HGNC:11766)
|
Camurati-Engelmann disease
(MONDO_0007542)
|
Definitive
|
|
|
TG
(HGNC:11764)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Definitive
|
|
|
TGFB3
(HGNC:11769)
|
Rienhoff syndrome
(MONDO_0014262)
|
Strong
|
|
|
TGFB3
(HGNC:11769)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Refuted
|
|
|
TGFB2
(HGNC:11768)
|
Loeys-Dietz syndrome 4
(MONDO_0013897)
|
Strong
|
|
|
TGFB3
(HGNC:11769)
|
Loeys-Dietz syndrome
(MONDO_0018954)
|
Moderate
|
|
|
TGFBI
(HGNC:11771)
|
epithelial basement membrane dystrophy
(MONDO_0007375)
|
Limited
|
|
|
TGFBI
(HGNC:11771)
|
granular corneal dystrophy type I
(MONDO_0007377)
|
Definitive
|
|
|
TGFBI
(HGNC:11771)
|
lattice corneal dystrophy type I
(MONDO_0007380)
|
Definitive
|
|
|
TGFBI
(HGNC:11771)
|
Thiel-Behnke corneal dystrophy
(MONDO_0011185)
|
Strong
|
|
|
TGFBI
(HGNC:11771)
|
Reis-Bucklers corneal dystrophy
(MONDO_0012043)
|
Strong
|
|
|
TGFBI
(HGNC:11771)
|
granular corneal dystrophy type II
(MONDO_0011855)
|
Definitive
|
|
|
TGFBR1
(HGNC:11772)
|
multiple self-healing squamous epithelioma
(MONDO_0007566)
|
Definitive
|
|
|
TGFBR1
(HGNC:11772)
|
Loeys-Dietz syndrome 1
(MONDO_0012212)
|
Definitive
|
|
|
TGFBR2
(HGNC:11773)
|
Loeys-Dietz syndrome 2
(MONDO_0012427)
|
Strong
|
|
|
TGFBR1
(HGNC:11772)
|
Loeys-Dietz syndrome
(MONDO_0018954)
|
Strong
|
|
|
TGFBR2
(HGNC:11773)
|
Loeys-Dietz syndrome
(MONDO_0018954)
|
Definitive
|
|
|
TGM1
(HGNC:11777)
|
bathing suit ichthyosis
(MONDO_0015085)
|
Strong
|
|
|
TGM1
(HGNC:11777)
|
self-healing collodion baby
(MONDO_0017267)
|
Moderate
|
|
|
TGM1
(HGNC:11777)
|
acral self-healing collodion baby
(MONDO_0017268)
|
Limited
|
|
|
TGM1
(HGNC:11777)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Definitive
|
|
|
TH
(HGNC:11782)
|
TH-deficient dopa-responsive dystonia
(MONDO_0011551)
|
Moderate
|
|
|
THPO
(HGNC:11795)
|
familial thrombocytosis
(MONDO_0019111)
|
Strong
|
|
|
THPO
(HGNC:11795)
|
congenital amegakaryocytic thrombocytopenia
(MONDO_0800451)
|
Strong
|
|
|
TH
(HGNC:11782)
|
tyrosine hydroxylase deficiency
(MONDO_0100064)
|
Definitive
|
|
|
TIA1
(HGNC:11802)
|
distal myopathy, Welander type
(MONDO_0011466)
|
Strong
|
|
|
KLF10
(HGNC:11810)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
KLF11
(HGNC:11811)
|
maturity-onset diabetes of the young type 7
(MONDO_0012513)
|
Strong
|
|
|
KLF11
(HGNC:11811)
|
monogenic diabetes
(MONDO_0015967)
|
Strong
|
|
|
KLF11
(HGNC:11811)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
TIMM8A
(HGNC:11817)
|
deafness dystonia syndrome
(MONDO_0010578)
|
Definitive
|
|
|
MYRF
(HGNC:1181)
|
encephalitis/encephalopathy, mild, with reversible myelin vacuolization
(MONDO_0020853)
|
Moderate
|
|
|
MYRF
(HGNC:1181)
|
cardiac-urogenital syndrome
(MONDO_0032653)
|
Moderate
|
|
|
TINF2
(HGNC:11824)
|
pulmonary fibrosis
(MONDO_0002771)
|
Limited
|
|
|
TINF2
(HGNC:11824)
|
thyroid gland papillary carcinoma
(MONDO_0005075)
|
Strong
|
|
|
TINF2
(HGNC:11824)
|
Revesz syndrome
(MONDO_0009990)
|
Moderate
|
|
|
TINF2
(HGNC:11824)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Moderate
|
|
|
NKX2-1
(HGNC:11825)
|
brain-lung-thyroid syndrome
(MONDO_0012593)
|
Definitive
|
|
|
NKX2-1
(HGNC:11825)
|
hereditary progressive chorea without dementia
(MONDO_0021011)
|
Strong
|
|
|
TK2
(HGNC:11831)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
TJP2
(HGNC:11828)
|
cholestasis, progressive familial intrahepatic, 4
(MONDO_0014381)
|
Strong
|
|
|
TKT
(HGNC:11834)
|
transketolase deficiency
(MONDO_0014881)
|
Strong
|
|
|
TLK2
(HGNC:11842)
|
intellectual disability, autosomal dominant 57
(MONDO_0054837)
|
Strong
|
|
|
TMPO
(HGNC:11875)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
TNFAIP3
(HGNC:11896)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
ACO2
(HGNC:118)
|
infantile cerebellar-retinal degeneration
(MONDO_0013802)
|
Definitive
|
|
|
TNFRSF11A
(HGNC:11908)
|
familial expansile osteolysis
(MONDO_0008275)
|
Definitive
|
|
|
TNFRSF11A
(HGNC:11908)
|
dysosteosclerosis
(MONDO_0009138)
|
Moderate
|
|
|
ACO2
(HGNC:118)
|
optic atrophy 9
(MONDO_0014571)
|
Strong
|
|
|
TNFRSF11A
(HGNC:11908)
|
osteosarcoma
(MONDO_0009807)
|
Refuted
|
|
|
TNFRSF11A
(HGNC:11908)
|
autosomal recessive osteopetrosis 7
(MONDO_0012859)
|
Limited
|
|
|
TNFRSF11B
(HGNC:11909)
|
juvenile Paget disease
(MONDO_0009394)
|
Definitive
|
|
|
TNFRSF1A
(HGNC:11916)
|
autosomal dominant familial periodic fever
(MONDO_0007727)
|
Definitive
|
|
|
CD40
(HGNC:11919)
|
hyper-IgM syndrome type 3
(MONDO_0011735)
|
Strong
|
|
|
FAS
(HGNC:11920)
|
autoimmune lymphoproliferative syndrome type 1
(MONDO_0011158)
|
Definitive
|
|
|
TNFSF11
(HGNC:11926)
|
autosomal recessive osteopetrosis
(MONDO_0019026)
|
Strong
|
|
|
CD27
(HGNC:11922)
|
lymphoproliferative syndrome 2
(MONDO_0014054)
|
Moderate
|
|
|
TNFSF12
(HGNC:11927)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
TNFSF4
(HGNC:11934)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
TNFSF13
(HGNC:11928)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
FASLG
(HGNC:11936)
|
autoimmune lymphoproliferative syndrome type 1
(MONDO_0011158)
|
Limited
|
|
|
TNNC1
(HGNC:11943)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
TNNC1
(HGNC:11943)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
TNNC1
(HGNC:11943)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
TNNI2
(HGNC:11946)
|
Sheldon-hall syndrome
(MONDO_0011128)
|
Strong
|
|
|
TNNI3
(HGNC:11947)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
TNNI3
(HGNC:11947)
|
dilated cardiomyopathy 2A
(MONDO_0012746)
|
Limited
|
|
|
TNNI3
(HGNC:11947)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
TNNT1
(HGNC:11948)
|
nemaline myopathy 5
(MONDO_0011539)
|
Moderate
|
|
|
TNNT2
(HGNC:11949)
|
cardiomyopathy
(MONDO_0004994)
|
Strong
|
|
|
TNNT2
(HGNC:11949)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Definitive
|
|
|
TNNT2
(HGNC:11949)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
TNNT2
(HGNC:11949)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Definitive
|
|
|
CD70
(HGNC:11937)
|
severe combined immunodeficiency due to CD70 deficiency
(MONDO_0034054)
|
Limited
|
|
|
TNNT3
(HGNC:11950)
|
Sheldon-hall syndrome
(MONDO_0011128)
|
Strong
|
|
|
TNNT2
(HGNC:11949)
|
left ventricular noncompaction
(MONDO_0018901)
|
Limited
|
|
|
TNNT3
(HGNC:11950)
|
nemaline myopathy
(MONDO_0018958)
|
Moderate
|
|
|
MED12
(HGNC:11957)
|
blepharophimosis - intellectual disability syndrome, MKB type
(MONDO_0010477)
|
Moderate
|
|
|
EP400
(HGNC:11958)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
MED12
(HGNC:11957)
|
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
|
Strong
|
|
|
CNPY3
(HGNC:11968)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
TOP2B
(HGNC:11990)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
TOP2B
(HGNC:11990)
|
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
(MONDO_0012243)
|
Strong
|
|
|
TP53
(HGNC:11998)
|
sarcoma
(MONDO_0005089)
|
Definitive
|
|
|
TP53
(HGNC:11998)
|
colorectal cancer
(MONDO_0005575)
|
Definitive
|
|
|
TP53
(HGNC:11998)
|
breast cancer
(MONDO_0007254)
|
Definitive
|
|
|
TP53
(HGNC:11998)
|
choroid plexus carcinoma
(MONDO_0016718)
|
Definitive
|
|
|
MED12
(HGNC:11957)
|
cholestasis-pigmentary retinopathy-cleft palate syndrome
(MONDO_0012997)
|
Strong
|
|
|
TP53
(HGNC:11998)
|
Li-Fraumeni syndrome
(MONDO_0018875)
|
Definitive
|
|
|
ACOX1
(HGNC:119)
|
peroxisomal acyl-CoA oxidase deficiency
(MONDO_0009919)
|
Definitive
|
|
|
ACOX1
(HGNC:119)
|
Mitchell syndrome
(MONDO_0030073)
|
Moderate
|
|
|
TPI1
(HGNC:12009)
|
triosephosphate isomerase deficiency
(MONDO_0014221)
|
Definitive
|
|
|
TPM1
(HGNC:12010)
|
left ventricular noncompaction
(MONDO_0018901)
|
Strong
|
|
|
TPM1
(HGNC:12010)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
TPM2
(HGNC:12011)
|
arthrogryposis, distal, type 1A
(MONDO_0007157)
|
Limited
|
|
|
TPM2
(HGNC:12011)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Strong
|
|
|
TPM2
(HGNC:12011)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
TPM2
(HGNC:12011)
|
Sheldon-hall syndrome
(MONDO_0011128)
|
Strong
|
|
|
TPM3
(HGNC:12012)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Definitive
|
|
|
TPM2
(HGNC:12011)
|
cap myopathy
(MONDO_0015753)
|
Strong
|
|
|
TRDN
(HGNC:12261)
|
long QT syndrome
(MONDO_0002442)
|
Strong
|
|
|
TRDN
(HGNC:12261)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Strong
|
|
|
TREX1
(HGNC:12269)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
TREX1
(HGNC:12269)
|
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
(MONDO_0008641)
|
Strong
|
|
|
TREX1
(HGNC:12269)
|
familial chilblain lupus
(MONDO_0018827)
|
Definitive
|
|
|
TREX1
(HGNC:12269)
|
Aicardi-Goutieres syndrome 1
(MONDO_0009165)
|
Definitive
|
|
|
TREX1
(HGNC:12269)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
GIPC1
(HGNC:1226)
|
oculopharyngodistal myopathy
(MONDO_0025193)
|
Strong
|
|
|
SERPING1
(HGNC:1228)
|
hereditary angioedema type 1
(MONDO_0015053)
|
Definitive
|
|
|
SERPING1
(HGNC:1228)
|
C1 inhibitor deficiency
(MONDO_0007361)
|
Definitive
|
|
|
TRIP11
(HGNC:12305)
|
achondrogenesis type IA
(MONDO_0008701)
|
Strong
|
|
|
TRIP12
(HGNC:12306)
|
Clark-Baraitser syndrome
(MONDO_0030914)
|
Definitive
|
|
|
ZNHIT3
(HGNC:12309)
|
PEHO syndrome
(MONDO_0009841)
|
Strong
|
|
|
TRPS1
(HGNC:12340)
|
trichorhinophalangeal syndrome, type III
(MONDO_0008597)
|
Limited
|
|
|
TSC1
(HGNC:12362)
|
lung lymphangioleiomyomatosis
(MONDO_0006277)
|
Limited
|
|
|
TSC1
(HGNC:12362)
|
tuberous sclerosis
(MONDO_0001734)
|
Strong
|
|
|
TSFM
(HGNC:12367)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
TSC2
(HGNC:12363)
|
lymphangioleiomyomatosis
(MONDO_0011705)
|
Strong
|
|
|
RSPH1
(HGNC:12371)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
TSHR
(HGNC:12373)
|
familial hyperthyroidism due to mutations in TSH receptor
(MONDO_0012203)
|
Strong
|
|
|
TSHB
(HGNC:12372)
|
isolated thyroid-stimulating hormone deficiency
(MONDO_0010139)
|
Limited
|
|
|
TSPYL1
(HGNC:12382)
|
sudden infant death-dysgenesis of the testes syndrome
(MONDO_0012124)
|
Strong
|
|
|
TSHR
(HGNC:12373)
|
athyreosis
(MONDO_0019855)
|
Limited
|
|
|
TSHR
(HGNC:12373)
|
thyroid hypoplasia
(MONDO_0019861)
|
Limited
|
|
|
TTN
(HGNC:12403)
|
tibial muscular dystrophy
(MONDO_0010870)
|
Definitive
|
|
|
TUB
(HGNC:12406)
|
essential tremor
(MONDO_0003233)
|
Moderate
|
|
|
TUB
(HGNC:12406)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
TUBB2A
(HGNC:12412)
|
complex cortical dysplasia with other brain malformations 5
(MONDO_0014337)
|
Limited
|
|
|
TUBG1
(HGNC:12417)
|
lissencephaly spectrum disorders
(MONDO_0018838)
|
Moderate
|
|
|
C1QA
(HGNC:1241)
|
C1Q deficiency
(MONDO_0013343)
|
Strong
|
|
|
TUFM
(HGNC:12420)
|
combined oxidative phosphorylation defect type 4
(MONDO_0012534)
|
Moderate
|
|
|
TULP1
(HGNC:12423)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
MYOT
(HGNC:12399)
|
myofibrillar myopathy 3
(MONDO_0012215)
|
Moderate
|
|
|
TULP1
(HGNC:12423)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
DNAJC7
(HGNC:12392)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
TTN
(HGNC:12403)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Definitive
|
|
|
TTN
(HGNC:12403)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
TTN
(HGNC:12403)
|
early-onset myopathy with fatal cardiomyopathy
(MONDO_0012714)
|
Limited
|
|
|
TULP3
(HGNC:12425)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
TWIST1
(HGNC:12428)
|
Sweeney-Cox syndrome
(MONDO_0060592)
|
Moderate
|
|
|
TULP3
(HGNC:12425)
|
hepatorenocardiac degenerative fibrosis
(MONDO_0859254)
|
Limited
|
|
|
C1QBP
(HGNC:1243)
|
combined oxidative phosphorylation deficiency 33
(MONDO_0054677)
|
Limited
|
|
|
C1QBP
(HGNC:1243)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
TTN
(HGNC:12403)
|
congenital myopathy
(MONDO_0019952)
|
Moderate
|
|
|
C1QB
(HGNC:1242)
|
C1Q deficiency
(MONDO_0013343)
|
Strong
|
|
|
TYK2
(HGNC:12440)
|
immunodeficiency 35
(MONDO_0012682)
|
Strong
|
|
|
TTN
(HGNC:12403)
|
myopathy, myofibrillar, 9, with early respiratory failure
(MONDO_0011362)
|
Strong
|
|
|
TYR
(HGNC:12442)
|
oculocutaneous albinism type 1A
(MONDO_0008745)
|
Definitive
|
|
|
TTN
(HGNC:12403)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Strong
|
|
|
TTR
(HGNC:12405)
|
familial amyloid neuropathy
(MONDO_0007100)
|
Definitive
|
|
|
TTN
(HGNC:12403)
|
autosomal recessive limb-girdle muscular dystrophy type 2J
(MONDO_0012127)
|
Strong
|
|
|
TYR
(HGNC:12442)
|
oculocutaneous albinism type 1B
(MONDO_0011749)
|
Definitive
|
|
|
TTR
(HGNC:12405)
|
amyloidosis, hereditary systemic 1
(MONDO_0971004)
|
Definitive
|
|
|
TYR
(HGNC:12442)
|
oculocutaneous albinism type 1
(MONDO_0018135)
|
Definitive
|
|
|
TYROBP
(HGNC:12449)
|
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
(MONDO_0009092)
|
Strong
|
|
|
TYRP1
(HGNC:12450)
|
oculocutaneous albinism type 3
(MONDO_0008747)
|
Limited
|
|
|
C1QC
(HGNC:1245)
|
C1Q deficiency
(MONDO_0013343)
|
Strong
|
|
|
C1S
(HGNC:1247)
|
complement component C1s deficiency
(MONDO_0013419)
|
Moderate
|
|
|
UBAP1
(HGNC:12461)
|
spastic paraplegia 80, autosomal dominant
(MONDO_0032737)
|
Strong
|
|
|
UBA1
(HGNC:12469)
|
infantile-onset X-linked spinal muscular atrophy
(MONDO_0010532)
|
Strong
|
|
|
C2
(HGNC:1248)
|
complement component 2 deficiency
(MONDO_0009006)
|
Strong
|
|
|
UBQLN1
(HGNC:12508)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
UBQLN2
(HGNC:12509)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
UMOD
(HGNC:12559)
|
familial juvenile hyperuricemic nephropathy type 1
(MONDO_0008073)
|
Definitive
|
|
|
C1S
(HGNC:1247)
|
Ehlers-Danlos syndrome, periodontitis type
(MONDO_0007527)
|
Moderate
|
|
|
UBE2L3
(HGNC:12488)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
UMPS
(HGNC:12563)
|
orotic aciduria
(MONDO_0009797)
|
Definitive
|
|
|
UMOD
(HGNC:12559)
|
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
(MONDO_0008264)
|
Definitive
|
|
|
UPK3A
(HGNC:12580)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Limited
|
|
|
UQCRB
(HGNC:12582)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Limited
|
|
|
UQCRC2
(HGNC:12586)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Strong
|
|
|
UQCRC2
(HGNC:12586)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
UROD
(HGNC:12591)
|
familial porphyria cutanea tarda
(MONDO_0008296)
|
Definitive
|
|
|
UQCRFS1
(HGNC:12587)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Moderate
|
|
|
USH1C
(HGNC:12597)
|
Usher syndrome type 1
(MONDO_0010168)
|
Strong
|
|
|
USH1C
(HGNC:12597)
|
Usher syndrome type 1C
(MONDO_0010171)
|
Moderate
|
|
|
USH1C
(HGNC:12597)
|
autosomal recessive nonsyndromic hearing loss 18A
(MONDO_0011192)
|
Limited
|
|
|
USH2A
(HGNC:12601)
|
Usher syndrome type 2A
(MONDO_0010169)
|
Definitive
|
|
|
USH2A
(HGNC:12601)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
USH2A
(HGNC:12601)
|
Usher syndrome type 2
(MONDO_0016484)
|
Definitive
|
|
|
CLRN1
(HGNC:12605)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
CLRN1
(HGNC:12605)
|
Usher syndrome type 3
(MONDO_0016485)
|
Strong
|
|
|
CFAP410
(HGNC:1260)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
CFAP410
(HGNC:1260)
|
axial spondylometaphyseal dysplasia
(MONDO_0011211)
|
Strong
|
|
|
CFAP410
(HGNC:1260)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
USP18
(HGNC:12616)
|
pseudo-TORCH syndrome 2
(MONDO_0018828)
|
Strong
|
|
|
USP8
(HGNC:12631)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Limited
|
|
|
USP7
(HGNC:12630)
|
Hao-Fountain syndrome
(MONDO_0014805)
|
Strong
|
|
|
USP9X
(HGNC:12632)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Moderate
|
|
|
KDM6A
(HGNC:12637)
|
Kabuki syndrome 2
(MONDO_0010465)
|
Definitive
|
|
|
KDM6A
(HGNC:12637)
|
Kabuki syndrome
(MONDO_0016512)
|
Definitive
|
|
|
VAPB
(HGNC:12649)
|
amyotrophic lateral sclerosis type 8
(MONDO_0012077)
|
Definitive
|
|
|
VAPB
(HGNC:12649)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
VARS1
(HGNC:12651)
|
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
(MONDO_0060621)
|
Moderate
|
|
|
VARS1
(HGNC:12651)
|
combined oxidative phosphorylation defect type 20
(MONDO_0014397)
|
Strong
|
|
|
VCL
(HGNC:12665)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
VCL
(HGNC:12665)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
VCP
(HGNC:12666)
|
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(MONDO_0000507)
|
Definitive
|
|
|
VCP
(HGNC:12666)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
VCP
(HGNC:12666)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
VCP
(HGNC:12666)
|
inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
(MONDO_0008178)
|
Definitive
|
|
|
VDR
(HGNC:12679)
|
vitamin D-dependent rickets, type 2
(MONDO_0019642)
|
Definitive
|
|
|
VHL
(HGNC:12687)
|
pheochromocytoma
(MONDO_0008233)
|
Definitive
|
|
|
VHL
(HGNC:12687)
|
renal cell carcinoma
(MONDO_0005086)
|
Definitive
|
|
|
VHL
(HGNC:12687)
|
von Hippel-Lindau disease
(MONDO_0008667)
|
Definitive
|
|
|
VLDLR
(HGNC:12698)
|
cerebellar ataxia, intellectual disability, and dysequilibrium
(MONDO_0009133)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
nanophthalmia
(MONDO_0005514)
|
Moderate
|
|
|
VLDLR
(HGNC:12698)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
(MONDO_0024542)
|
Moderate
|
|
|
VHL
(HGNC:12687)
|
Chuvash polycythemia
(MONDO_0009892)
|
Definitive
|
|
|
BEST1
(HGNC:12703)
|
vitelliform macular dystrophy 2
(MONDO_0007931)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
|
Limited
|
|
|
BEST1
(HGNC:12703)
|
autosomal dominant vitreoretinochoroidopathy
(MONDO_0008662)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
autosomal recessive bestrophinopathy
(MONDO_0012733)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Definitive
|
|
|
BEST1
(HGNC:12703)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
VPS33B
(HGNC:12712)
|
arthrogryposis, renal dysfunction, and cholestasis 1
(MONDO_0008822)
|
Definitive
|
|
|
VRK1
(HGNC:12718)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Moderate
|
|
|
VSX1
(HGNC:12723)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Disputed
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease 1
(MONDO_0008668)
|
Definitive
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease 3
(MONDO_0010191)
|
Strong
|
|
|
BEST1
(HGNC:12703)
|
retinitis pigmentosa 50
(MONDO_0013175)
|
Strong
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease 2
(MONDO_0013304)
|
Definitive
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease type 2A
(MONDO_0015628)
|
Definitive
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease type 2B
(MONDO_0015629)
|
Definitive
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease type 2M
(MONDO_0015630)
|
Definitive
|
|
|
VWF
(HGNC:12726)
|
von Willebrand disease type 2N
(MONDO_0015631)
|
Strong
|
|
|
WARS1
(HGNC:12729)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Strong
|
|
|
WARS2
(HGNC:12730)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
WARS2
(HGNC:12730)
|
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
(MONDO_0060578)
|
Limited
|
|
|
WAS
(HGNC:12731)
|
Wiskott-Aldrich syndrome
(MONDO_0010518)
|
Definitive
|
|
|
WAS
(HGNC:12731)
|
thrombocytopenia 1
(MONDO_0010743)
|
Definitive
|
|
|
WIPF1
(HGNC:12736)
|
Wiskott-Aldrich syndrome
(MONDO_0010518)
|
Limited
|
|
|
WDR4
(HGNC:12756)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Limited
|
|
|
WASF1
(HGNC:12732)
|
neurodevelopmental disorder with absent language and variable seizures
(MONDO_0032876)
|
Definitive
|
|
|
BRWD1
(HGNC:12760)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
WFS1
(HGNC:12762)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Strong
|
|
|
WFS1
(HGNC:12762)
|
Wolfram syndrome 1
(MONDO_0009101)
|
Strong
|
|
|
WFS1
(HGNC:12762)
|
Wolfram-like syndrome
(MONDO_0013673)
|
Strong
|
|
|
FOXN1
(HGNC:12765)
|
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
(MONDO_0011132)
|
Moderate
|
|
|
WFS1
(HGNC:12762)
|
Wolfram syndrome
(MONDO_0018105)
|
Definitive
|
|
|
NSD2
(HGNC:12766)
|
Rauch-Steindl syndrome
(MONDO_0859219)
|
Limited
|
|
|
WNT1
(HGNC:12774)
|
osteogenesis imperfecta type 15
(MONDO_0014086)
|
Definitive
|
|
|
WNT10B
(HGNC:12775)
|
tooth agenesis
(MONDO_0005486)
|
Moderate
|
|
|
WNT10B
(HGNC:12775)
|
split hand-foot malformation 6
(MONDO_0009157)
|
Moderate
|
|
|
WNT5A
(HGNC:12784)
|
autosomal dominant Robinow syndrome
(MONDO_0008389)
|
Strong
|
|
|
WNT7A
(HGNC:12786)
|
phocomelia, Schinzel type
(MONDO_0010164)
|
Limited
|
|
|
WNT7A
(HGNC:12786)
|
Fuhrmann syndrome
(MONDO_0009232)
|
Moderate
|
|
|
WRN
(HGNC:12791)
|
osteosarcoma
(MONDO_0009807)
|
Moderate
|
|
|
WRN
(HGNC:12791)
|
Werner syndrome
(MONDO_0010196)
|
Definitive
|
|
|
WT1
(HGNC:12796)
|
Frasier syndrome
(MONDO_0007635)
|
Definitive
|
|
|
WWOX
(HGNC:12799)
|
autosomal recessive spinocerebellar ataxia 12
(MONDO_0013687)
|
Strong
|
|
|
WT1
(HGNC:12796)
|
Denys-Drash syndrome
(MONDO_0008682)
|
Definitive
|
|
|
WWOX
(HGNC:12799)
|
developmental and epileptic encephalopathy, 28
(MONDO_0014533)
|
Definitive
|
|
|
WWOX
(HGNC:12799)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
XPA
(HGNC:12814)
|
xeroderma pigmentosum group A
(MONDO_0010210)
|
Definitive
|
|
|
XPA
(HGNC:12814)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Strong
|
|
|
XPC
(HGNC:12816)
|
xeroderma pigmentosum group C
(MONDO_0010211)
|
Strong
|
|
|
XRCC2
(HGNC:12829)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
XRCC1
(HGNC:12828)
|
head and neck cancer
(MONDO_0005627)
|
Limited
|
|
|
XPC
(HGNC:12816)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Definitive
|
|
|
YARS1
(HGNC:12840)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Moderate
|
|
|
YY1
(HGNC:12856)
|
Gabriele de Vries syndrome
(MONDO_0044738)
|
Strong
|
|
|
XRCC2
(HGNC:12829)
|
Fanconi anemia
(MONDO_0019391)
|
Limited
|
|
|
YWHAG
(HGNC:12852)
|
developmental and epileptic encephalopathy, 56
(MONDO_0033365)
|
Strong
|
|
|
ZIC1
(HGNC:12872)
|
Dandy-Walker syndrome
(MONDO_0009072)
|
Limited
|
|
|
ZMPSTE24
(HGNC:12877)
|
Hutchinson-Gilford progeria syndrome
(MONDO_0008310)
|
Moderate
|
|
|
ZMPSTE24
(HGNC:12877)
|
mandibuloacral dysplasia with type B lipodystrophy
(MONDO_0012074)
|
Definitive
|
|
|
ZIC2
(HGNC:12873)
|
holoprosencephaly
(MONDO_0016296)
|
Definitive
|
|
|
RNF113A
(HGNC:12974)
|
trichothiodystrophy
(MONDO_0018053)
|
Strong
|
|
|
ZMYM2
(HGNC:12989)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Strong
|
|
|
PCGF2
(HGNC:12929)
|
turnpenny-fry syndrome
(MONDO_0032707)
|
Definitive
|
|
|
ZMYM2
(HGNC:12989)
|
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
(MONDO_0859190)
|
Limited
|
|
|
ACTA1
(HGNC:129)
|
nemaline myopathy 3
(MONDO_0008070)
|
Strong
|
|
|
ACTA1
(HGNC:129)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Moderate
|
|
|
ACTA1
(HGNC:129)
|
zebra body myopathy
(MONDO_0019949)
|
Limited
|
|
|
ZNF219
(HGNC:13011)
|
microphthalmia
(MONDO_0021129)
|
Limited
|
|
|
CBY1
(HGNC:1307)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
SCAPER
(HGNC:13081)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
C3
(HGNC:1318)
|
complement component 3 deficiency
(MONDO_0013417)
|
Strong
|
|
|
ZNF81
(HGNC:13156)
|
X-linked intellectual disability
(MONDO_0100284)
|
Disputed
|
|
|
AICDA
(HGNC:13203)
|
hyper-IgM syndrome type 2
(MONDO_0011528)
|
Definitive
|
|
|
ARL6
(HGNC:13210)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
C3
(HGNC:1318)
|
C3 glomerulonephritis
(MONDO_0013892)
|
Moderate
|
|
|
ARL6
(HGNC:13210)
|
Bardet-Biedl syndrome 3
(MONDO_0010832)
|
Moderate
|
|
|
BCL11B
(HGNC:13222)
|
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
(MONDO_0060763)
|
Strong
|
|
|
ADAMTS9
(HGNC:13202)
|
ciliopathy
(MONDO_0005308)
|
Moderate
|
|
|
BCL11A
(HGNC:13221)
|
Dias-Logan syndrome
(MONDO_0014914)
|
Strong
|
|
|
TIMMDC1
(HGNC:1321)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
C4A
(HGNC:1323)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
TIMMDC1
(HGNC:1321)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
LMBR1
(HGNC:13243)
|
triphalangeal thumb-polysyndactyly syndrome
(MONDO_0017454)
|
Strong
|
|
|
DUOX2
(HGNC:13273)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Definitive
|
|
|
ACTB
(HGNC:132)
|
Baraitser-Winter syndrome 1
(MONDO_0009470)
|
Strong
|
|
|
HDAC8
(HGNC:13315)
|
Cornelia de Lange syndrome 5
(MONDO_0010471)
|
Definitive
|
|
|
MYOZ2
(HGNC:1330)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
C5
(HGNC:1331)
|
complement component 5 deficiency
(MONDO_0012295)
|
Strong
|
|
|
MCOLN1
(HGNC:13356)
|
Lisch epithelial corneal dystrophy
(MONDO_0010425)
|
Strong
|
|
|
KDM3B
(HGNC:1337)
|
Diets-Jongmans syndrome
(MONDO_0030012)
|
Limited
|
|
|
NEK8
(HGNC:13387)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Strong
|
|
|
NSDHL
(HGNC:13398)
|
CK syndrome
(MONDO_0010441)
|
Strong
|
|
|
NEK8
(HGNC:13387)
|
renal-hepatic-pancreatic dysplasia 2
(MONDO_0014174)
|
Limited
|
|
|
RLIM
(HGNC:13429)
|
intellectual disability, X-linked 61
(MONDO_0010506)
|
Definitive
|
|
|
RPGRIP1
(HGNC:13436)
|
Leber congenital amaurosis 6
(MONDO_0013446)
|
Definitive
|
|
|
RPGRIP1
(HGNC:13436)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
RPGRIP1
(HGNC:13436)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
TRAF3IP2
(HGNC:1343)
|
chronic mucocutaneous candidiasis
(MONDO_0015279)
|
Moderate
|
|
|
SLC2A10
(HGNC:13444)
|
arterial tortuosity syndrome
(MONDO_0008818)
|
Definitive
|
|
|
SLC2A9
(HGNC:13446)
|
hereditary renal hypouricemia
(MONDO_0009071)
|
Definitive
|
|
|
C7
(HGNC:1346)
|
complement component 7 deficiency
(MONDO_0012412)
|
Definitive
|
|
|
SLC2A9
(HGNC:13446)
|
hypouricemia, renal, 2
(MONDO_0012793)
|
Definitive
|
|
|
USP27X
(HGNC:13486)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
VPS35
(HGNC:13487)
|
Parkinson disease 17
(MONDO_0013625)
|
Definitive
|
|
|
SAMD9
(HGNC:1348)
|
normophosphatemic familial tumoral calcinosis
(MONDO_0012502)
|
Strong
|
|
|
ZBTB20
(HGNC:13503)
|
Primrose syndrome
(MONDO_0009798)
|
Definitive
|
|
|
RXYLT1
(HGNC:13530)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Moderate
|
|
|
ATP8A2
(HGNC:13533)
|
cerebellar ataxia, intellectual disability, and dysequilibrium
(MONDO_0009133)
|
Definitive
|
|
|
ATP8A2
(HGNC:13533)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
(MONDO_0014104)
|
Definitive
|
|
|
MARK4
(HGNC:13538)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
ERLIN2
(HGNC:1356)
|
hereditary spastic paraplegia 18
(MONDO_0012639)
|
Strong
|
|
|
BRD4
(HGNC:13575)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Limited
|
|
|
C9
(HGNC:1358)
|
complement component 9 deficiency
(MONDO_0013445)
|
Definitive
|
|
|
C8B
(HGNC:1353)
|
type II complement component 8 deficiency
(MONDO_0013421)
|
Strong
|
|
|
FBXW11
(HGNC:13607)
|
neurodevelopmental, jaw, eye, and digital syndrome
(MONDO_0030057)
|
Strong
|
|
|
ADAMTS13
(HGNC:1366)
|
congenital thrombotic thrombocytopenic purpura
(MONDO_0010122)
|
Definitive
|
|
|
FBXO11
(HGNC:13590)
|
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
(MONDO_0060760)
|
Strong
|
|
|
KLF13
(HGNC:13672)
|
congenital heart disease
(MONDO_0005453)
|
Strong
|
|
|
CTCF
(HGNC:13723)
|
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
(MONDO_0014213)
|
Strong
|
|
|
DCHS1
(HGNC:13681)
|
van Maldergem syndrome
(MONDO_0017813)
|
Limited
|
|
|
KMT2C
(HGNC:13726)
|
Kleefstra syndrome 2
(MONDO_0054701)
|
Strong
|
|
|
CDH23
(HGNC:13733)
|
Usher syndrome type 1
(MONDO_0010168)
|
Strong
|
|
|
CDH23
(HGNC:13733)
|
Usher syndrome type 1D
(MONDO_0010984)
|
Definitive
|
|
|
CDH23
(HGNC:13733)
|
autosomal recessive nonsyndromic hearing loss 12
(MONDO_0011067)
|
Strong
|
|
|
ALOXE3
(HGNC:13743)
|
self-healing collodion baby
(MONDO_0017267)
|
Strong
|
|
|
ALOXE3
(HGNC:13743)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Strong
|
|
|
ALOXE3
(HGNC:13743)
|
lamellar ichthyosis
(MONDO_0017778)
|
Strong
|
|
|
SOST
(HGNC:13771)
|
craniodiaphyseal dysplasia
(MONDO_0009031)
|
Strong
|
|
|
SOST
(HGNC:13771)
|
hyperostosis corticalis generalisata
(MONDO_0009395)
|
Definitive
|
|
|
CA5A
(HGNC:1377)
|
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
(MONDO_0014332)
|
Strong
|
|
|
PRX
(HGNC:13797)
|
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
|
Strong
|
|
|
NEUROG3
(HGNC:13806)
|
congenital malabsorptive diarrhea 4
(MONDO_0012479)
|
Definitive
|
|
|
WNT10A
(HGNC:13829)
|
tooth agenesis
(MONDO_0005486)
|
Definitive
|
|
|
SLC12A5
(HGNC:13818)
|
epilepsy of infancy with migrating focal seizures
(MONDO_0100025)
|
Moderate
|
|
|
WNT10A
(HGNC:13829)
|
odonto-onycho-dermal dysplasia
(MONDO_0009773)
|
Definitive
|
|
|
CA8
(HGNC:1382)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
(MONDO_0013188)
|
Strong
|
|
|
ADGRG6
(HGNC:13841)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
LOXL3
(HGNC:13869)
|
Stickler syndrome
(MONDO_0019354)
|
Limited
|
|
|
CABP4
(HGNC:1386)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Moderate
|
|
|
FOXP2
(HGNC:13875)
|
childhood apraxia of speech
(MONDO_0011184)
|
Definitive
|
|
|
CACNA1A Gene
(HGNC:1388)
|
episodic ataxia type 2
(MONDO_0007163)
|
Definitive
|
|
|
CACNA1A Gene
(HGNC:1388)
|
developmental and epileptic encephalopathy, 42
(MONDO_0014917)
|
Limited
|
|
|
CACNA1A Gene
(HGNC:1388)
|
benign paroxysmal torticollis of infancy
(MONDO_0019113)
|
Limited
|
|
|
CACNA1A Gene
(HGNC:1388)
|
spinocerebellar ataxia type 6
(MONDO_0008457)
|
Strong
|
|
|
CACNA1A Gene
(HGNC:1388)
|
migraine, familial hemiplegic, 1
(MONDO_0020756)
|
Definitive
|
|
|
ITCH
(HGNC:13890)
|
syndromic multisystem autoimmune disease due to ITCH deficiency
(MONDO_0013245)
|
Strong
|
|
|
ATOH7
(HGNC:13907)
|
persistent hyperplastic primary vitreous
(MONDO_0019631)
|
Moderate
|
|
|
CACNA1C
(HGNC:1390)
|
short QT syndrome
(MONDO_0000453)
|
Moderate
|
|
|
CACNA1C
(HGNC:1390)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
CACNA1C
(HGNC:1390)
|
long QT syndrome
(MONDO_0002442)
|
Strong
|
|
|
CACNA1C
(HGNC:1390)
|
Timothy syndrome
(MONDO_0010979)
|
Definitive
|
|
|
CACNA1E
(HGNC:1392)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
CACNA1C
(HGNC:1390)
|
Brugada syndrome
(MONDO_0015263)
|
Strong
|
|
|
MPIG6B
(HGNC:13937)
|
thrombocytopenia, anemia, and myelofibrosis
(MONDO_0044316)
|
Strong
|
|
|
CACNA1F
(HGNC:1393)
|
congenital stationary night blindness 2A
(MONDO_0010241)
|
Strong
|
|
|
CACNA1F
(HGNC:1393)
|
X-linked cone-rod dystrophy 3
(MONDO_0010335)
|
Limited
|
|
|
CACNA1F
(HGNC:1393)
|
Aland island eye disease
(MONDO_0010371)
|
Strong
|
|
|
CACNA1F
(HGNC:1393)
|
cone-rod dystrophy
(MONDO_0015993)
|
Moderate
|
|
|
CACNA1F
(HGNC:1393)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Strong
|
|
|
CACNA1G
(HGNC:1394)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CACNA1G
(HGNC:1394)
|
spinocerebellar ataxia type 42
(MONDO_0014776)
|
Strong
|
|
|
CACNA1G
(HGNC:1394)
|
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
(MONDO_0060758)
|
Strong
|
|
|
CACNA1G
(HGNC:1394)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
CACNA1H
(HGNC:1395)
|
childhood absence epilepsy
(MONDO_0010826)
|
Moderate
|
|
|
CACNA1H
(HGNC:1395)
|
hyperaldosteronism, familial, type IV
(MONDO_0014875)
|
Moderate
|
|
|
CACNA1S
(HGNC:1397)
|
hypokalemic periodic paralysis
(MONDO_0008223)
|
Definitive
|
|
|
CACNA1S
(HGNC:1397)
|
malignant hyperthermia, susceptibility to, 5
(MONDO_0011163)
|
Strong
|
|
|
CACNA1S
(HGNC:1397)
|
congenital myopathy
(MONDO_0019952)
|
Limited
|
|
|
CACNA1S
(HGNC:1397)
|
hypokalemic periodic paralysis, type 1
(MONDO_0042979)
|
Definitive
|
|
|
CACNA1S
(HGNC:1397)
|
congenital myopathy 18
(MONDO_0859514)
|
Limited
|
|
|
PRDM12
(HGNC:13997)
|
congenital insensitivity to pain-hypohidrosis syndrome
(MONDO_0014662)
|
Limited
|
|
|
PRDM12
(HGNC:13997)
|
hereditary sensory and autonomic neuropathy
(MONDO_0015364)
|
Moderate
|
|
|
CACNA2D1
(HGNC:1399)
|
short QT syndrome
(MONDO_0000453)
|
Limited
|
|
|
CACNA2D1
(HGNC:1399)
|
Brugada syndrome
(MONDO_0015263)
|
Disputed
|
|
|
PRDM16
(HGNC:14000)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
CACNA2D1
(HGNC:1399)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Limited
|
|
|
PRDM16
(HGNC:14000)
|
left ventricular noncompaction
(MONDO_0018901)
|
Strong
|
|
|
ANO3
(HGNC:14004)
|
dystonia 24
(MONDO_0014019)
|
Strong
|
|
|
TRPV6
(HGNC:14006)
|
pancreatitis
(MONDO_0004982)
|
Strong
|
|
|
TRPV6
(HGNC:14006)
|
hyperparathyroidism, transient neonatal
(MONDO_0032591)
|
Limited
|
|
|
SLC5A7
(HGNC:14025)
|
congenital myasthenic syndrome 20
(MONDO_0014939)
|
Strong
|
|
|
SLC5A7
(HGNC:14025)
|
distal hereditary motor neuropathy type 7
(MONDO_0015355)
|
Strong
|
|
|
CSMD1
(HGNC:14026)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
CACNB2
(HGNC:1402)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
CACNB2
(HGNC:1402)
|
short QT syndrome
(MONDO_0000453)
|
Moderate
|
|
|
CACNB4
(HGNC:1404)
|
juvenile myoclonic epilepsy
(MONDO_0009696)
|
Limited
|
|
|
CACNB4
(HGNC:1404)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
HDAC4
(HGNC:14063)
|
2q37 microdeletion syndrome
(MONDO_0010886)
|
Definitive
|
|
|
BACH2
(HGNC:14078)
|
immunodeficiency 60
(MONDO_0032723)
|
Limited
|
|
|
XPO7
(HGNC:14108)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
NPRL3
(HGNC:14124)
|
focal epilepsy
(MONDO_0005384)
|
Strong
|
|
|
NPRL3
(HGNC:14124)
|
familial focal epilepsy with variable foci
(MONDO_0020310)
|
Strong
|
|
|
DOCK9
(HGNC:14132)
|
keratoconus
(MONDO_0015486)
|
Limited
|
|
|
EHMT2
(HGNC:14129)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
PIGQ
(HGNC:14135)
|
developmental and epileptic encephalopathy, 77
(MONDO_0032808)
|
Moderate
|
|
|
ELAC2
(HGNC:14198)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
JPH2
(HGNC:14202)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
JPH2
(HGNC:14202)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
JPH3
(HGNC:14203)
|
Huntington disease-like 2
(MONDO_0011671)
|
Strong
|
|
|
RAB23
(HGNC:14263)
|
RAB23-related Carpenter syndrome
(MONDO_0008710)
|
Moderate
|
|
|
RAB18
(HGNC:14244)
|
Warburg micro syndrome
(MONDO_0016649)
|
Strong
|
|
|
AUTS2
(HGNC:14262)
|
autism spectrum disorder due to AUTS2 deficiency
(MONDO_0014361)
|
Strong
|
|
|
PCDH19
(HGNC:14270)
|
developmental and epileptic encephalopathy, 9
(MONDO_0010246)
|
Strong
|
|
|
IRF2BPL
(HGNC:14282)
|
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
(MONDO_0060759)
|
Strong
|
|
|
EDARADD
(HGNC:14341)
|
tooth agenesis
(MONDO_0005486)
|
Limited
|
|
|
MRTFA
(HGNC:14334)
|
immunodeficiency 66
(MONDO_0030013)
|
Limited
|
|
|
WDR13
(HGNC:14352)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
C1QTNF5
(HGNC:14344)
|
late-onset retinal degeneration
(MONDO_0011579)
|
Strong
|
|
|
ACP4
(HGNC:14376)
|
amelogenesis imperfecta type 1
(MONDO_0015047)
|
Limited
|
|
|
HTRA2
(HGNC:14348)
|
3-methylglutaconic aciduria type 8
(MONDO_0044723)
|
Limited
|
|
|
ACTC1
(HGNC:143)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
NOP10
(HGNC:14378)
|
dyskeratosis congenita
(MONDO_0015780)
|
Limited
|
|
|
ACTC1
(HGNC:143)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
SLC25A19
(HGNC:14409)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
NHP2
(HGNC:14377)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
SLC25A19
(HGNC:14409)
|
Amish lethal microcephaly
(MONDO_0011790)
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
spinocerebellar ataxia type 34
(MONDO_0007574)
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
Stargardt disease 3
(MONDO_0010819)
|
Strong
|
|
|
CALM1
(HGNC:1442)
|
long QT syndrome 14
(MONDO_0014548)
|
Strong
|
|
|
ELOVL4
(HGNC:14415)
|
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
(MONDO_0013760)
|
Moderate
|
|
|
ELOVL4
(HGNC:14415)
|
Stargardt disease
(MONDO_0019353)
|
Limited
|
|
|
SLC13A3
(HGNC:14430)
|
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
(MONDO_0032716)
|
Strong
|
|
|
CALM1
(HGNC:1442)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Definitive
|
|
|
LPIN2
(HGNC:14450)
|
Majeed syndrome
(MONDO_0012316)
|
Strong
|
|
|
TMEM237
(HGNC:14432)
|
Joubert syndrome
(MONDO_0018772)
|
Limited
|
|
|
CALM2
(HGNC:1445)
|
long QT syndrome
(MONDO_0002442)
|
Strong
|
|
|
CALM2
(HGNC:1445)
|
long QT syndrome 15
(MONDO_0014550)
|
Moderate
|
|
|
CALM3
(HGNC:1449)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Moderate
|
|
|
SLC26A9
(HGNC:14469)
|
cystic fibrosis
(MONDO_0009061)
|
Moderate
|
|
|
SLC26A7
(HGNC:14467)
|
congenital hypothyroidism
(MONDO_0018612)
|
Moderate
|
|
|
CALM2
(HGNC:1445)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Strong
|
|
|
ACTG1
(HGNC:144)
|
Baraitser-winter syndrome 2
(MONDO_0013812)
|
Limited
|
|
|
CALM3
(HGNC:1449)
|
familial long QT syndrome
(MONDO_0019171)
|
Strong
|
|
|
WNK1
(HGNC:14540)
|
hereditary sensory and autonomic neuropathy type 2
(MONDO_0019941)
|
Strong
|
|
|
ACTG1
(HGNC:144)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Definitive
|
|
|
NPC2
(HGNC:14537)
|
Niemann-Pick disease, type C2
(MONDO_0011873)
|
Strong
|
|
|
CDHR1
(HGNC:14550)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
CDHR1
(HGNC:14550)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
PINK1
(HGNC:14581)
|
autosomal recessive early-onset Parkinson disease 6
(MONDO_0011613)
|
Strong
|
|
|
ACTG2
(HGNC:145)
|
familial visceral myopathy
(MONDO_0016829)
|
Strong
|
|
|
PINK1
(HGNC:14581)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Moderate
|
|
|
ACTG2
(HGNC:145)
|
visceral myopathy 1
(MONDO_0020754)
|
Definitive
|
|
|
CAMK2B
(HGNC:1461)
|
intellectual disability, autosomal dominant 54
(MONDO_0030920)
|
Strong
|
|
|
CAMK2A
(HGNC:1460)
|
intellectual disability, autosomal dominant 53
(MONDO_0030919)
|
Strong
|
|
|
ADAMTSL2
(HGNC:14631)
|
geleophysic dysplasia 1
(MONDO_0009269)
|
Definitive
|
|
|
ADAMTSL2
(HGNC:14631)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Limited
|
|
|
CRELD1
(HGNC:14630)
|
congenital heart disease
(MONDO_0005453)
|
Moderate
|
|
|
ABCA13
(HGNC:14638)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
PCDH15
(HGNC:14674)
|
Usher syndrome type 1
(MONDO_0010168)
|
Definitive
|
|
|
PCDH15
(HGNC:14674)
|
Usher syndrome type 1F
(MONDO_0011186)
|
Definitive
|
|
|
PCDH15
(HGNC:14674)
|
autosomal recessive nonsyndromic hearing loss 23
(MONDO_0012293)
|
Moderate
|
|
|
DEAF1
(HGNC:14677)
|
intellectual disability, autosomal dominant 24
(MONDO_0014357)
|
Strong
|
|
|
CAPN3
(HGNC:1480)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Definitive
|
|
|
CAPN1
(HGNC:1476)
|
autosomal recessive spastic paraplegia type 76
(MONDO_0014827)
|
Strong
|
|
|
CAPN3
(HGNC:1480)
|
muscular dystrophy, limb-girdle, autosomal dominant
(MONDO_0015151)
|
Limited
|
|
|
CAPN3
(HGNC:1480)
|
muscular dystrophy, limb-girdle, autosomal dominant 4
(MONDO_0029133)
|
Limited
|
|
|
COG5
(HGNC:14857)
|
COG5-congenital disorder of glycosylation
(MONDO_0013325)
|
Limited
|
|
|
DNAJB6
(HGNC:14888)
|
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
(MONDO_0021018)
|
Strong
|
|
|
SPTBN4
(HGNC:14896)
|
neurodevelopmental disorder with hypotonia, neuropathy, and deafness
(MONDO_0060496)
|
Strong
|
|
|
DNAJB11
(HGNC:14889)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Strong
|
|
|
PUM1
(HGNC:14957)
|
spinocerebellar ataxia 47
(MONDO_0033482)
|
Strong
|
|
|
PIGT
(HGNC:14938)
|
multiple congenital anomalies-hypotonia-seizures syndrome 3
(MONDO_0014165)
|
Strong
|
|
|
CASK
(HGNC:1497)
|
syndromic X-linked intellectual disability Najm type
(MONDO_0010417)
|
Definitive
|
|
|
POFUT1
(HGNC:14988)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
SNX14
(HGNC:14977)
|
autosomal recessive spinocerebellar ataxia 20
(MONDO_0014601)
|
Strong
|
|
|
GPR101
(HGNC:14963)
|
acromegaly
(MONDO_0019933)
|
Strong
|
|
|
CASP8
(HGNC:1509)
|
autoimmune lymphoproliferative syndrome type 2B
(MONDO_0011804)
|
Moderate
|
|
|
CASQ1
(HGNC:1512)
|
tubular aggregate myopathy
(MONDO_0008051)
|
Strong
|
|
|
CASQ2
(HGNC:1513)
|
catecholaminergic polymorphic ventricular tachycardia 2
(MONDO_0012762)
|
Definitive
|
|
|
CASR
(HGNC:1514)
|
familial hypocalciuric hypercalcemia 1
(MONDO_0007791)
|
Definitive
|
|
|
CASR
(HGNC:1514)
|
autosomal dominant hypocalcemia
(MONDO_0018543)
|
Strong
|
|
|
CASR
(HGNC:1514)
|
neonatal severe primary hyperparathyroidism
(MONDO_0009397)
|
Strong
|
|
|
CAT
(HGNC:1516)
|
acatalasia
(MONDO_0013571)
|
Definitive
|
|
|
CASR
(HGNC:1514)
|
autosomal dominant hypocalcemia 1
(MONDO_0011013)
|
Definitive
|
|
|
CAV1
(HGNC:1527)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
CAV3
(HGNC:1529)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
CAV3
(HGNC:1529)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
CAV1
(HGNC:1527)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Limited
|
|
|
MICU1
(HGNC:1530)
|
proximal myopathy with extrapyramidal signs
(MONDO_0014300)
|
Strong
|
|
|
SERPINA6
(HGNC:1540)
|
corticosteroid-binding globulin deficiency
(MONDO_0012675)
|
Limited
|
|
|
CAV3
(HGNC:1529)
|
rippling muscle disease 2
(MONDO_0019947)
|
Moderate
|
|
|
CBL
(HGNC:1541)
|
CBL-related disorder
(MONDO_0013308)
|
Definitive
|
|
|
CBL
(HGNC:1541)
|
juvenile myelomonocytic leukemia
(MONDO_0011908)
|
Definitive
|
|
|
CBL
(HGNC:1541)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
SHOC2
(HGNC:15454)
|
Costello syndrome
(MONDO_0009026)
|
Disputed
|
|
|
PRPF31
(HGNC:15446)
|
retinitis pigmentosa 11
(MONDO_0010828)
|
Definitive
|
|
|
SHOC2
(HGNC:15454)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Moderate
|
|
|
SHOC2
(HGNC:15454)
|
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
|
Strong
|
|
|
MBTPS2
(HGNC:15455)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Moderate
|
|
|
MBTPS2
(HGNC:15455)
|
BRESEK syndrome
(MONDO_0019414)
|
Strong
|
|
|
MBTPS1
(HGNC:15456)
|
spondyloepiphyseal dysplasia, kondo-fu type
(MONDO_0032721)
|
Moderate
|
|
|
DIAPH3
(HGNC:15480)
|
auditory neuropathy
(MONDO_0021944)
|
Limited
|
|
|
MBTPS2
(HGNC:15455)
|
keratosis follicularis spinulosa decalvans
(MONDO_0000136)
|
Strong
|
|
|
DNAJC6
(HGNC:15469)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Moderate
|
|
|
ANKH
(HGNC:15492)
|
craniometaphyseal dysplasia, autosomal dominant
(MONDO_0007397)
|
Limited
|
|
|
ANKH
(HGNC:15492)
|
craniometaphyseal dysplasia
(MONDO_0015465)
|
Strong
|
|
|
PUS1
(HGNC:15508)
|
myopathy, lactic acidosis, and sideroblastic anemia
(MONDO_0000863)
|
Strong
|
|
|
ANKH
(HGNC:15492)
|
chondrocalcinosis 2
(MONDO_0007319)
|
Strong
|
|
|
XYLT1
(HGNC:15516)
|
Desbuquois dysplasia 2
(MONDO_0014343)
|
Strong
|
|
|
XYLT1
(HGNC:15516)
|
Desbuquois dysplasia
(MONDO_0015426)
|
Strong
|
|
|
DCTN4
(HGNC:15518)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
CBS
(HGNC:1550)
|
classic homocystinuria
(MONDO_0009352)
|
Definitive
|
|
|
LPAR6
(HGNC:15520)
|
isolated familial wooly hair disorder
(MONDO_0008686)
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
hypotrichosis 8
(MONDO_0010206)
|
Strong
|
|
|
LPAR6
(HGNC:15520)
|
hypotrichosis simplex
(MONDO_0018914)
|
Strong
|
|
|
JAM3
(HGNC:15532)
|
porencephaly-microcephaly-bilateral congenital cataract syndrome
(MONDO_0013394)
|
Strong
|
|
|
SPRY4
(HGNC:15533)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
CHCHD10
(HGNC:15559)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
IL36RN
(HGNC:15561)
|
pustulosis palmaris et plantaris
(MONDO_0015597)
|
Limited
|
|
|
SETBP1
(HGNC:15573)
|
Schinzel-Giedion syndrome
(MONDO_0010010)
|
Definitive
|
|
|
SS18L1
(HGNC:15592)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
SETBP1
(HGNC:15573)
|
intellectual disability, autosomal dominant 29
(MONDO_0014482)
|
Strong
|
|
|
HAMP
(HGNC:15598)
|
hemochromatosis type 2
(MONDO_0019257)
|
Strong
|
|
|
NBAS
(HGNC:15625)
|
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
(MONDO_0013889)
|
Strong
|
|
|
NBAS
(HGNC:15625)
|
infantile liver failure syndrome 2
(MONDO_0014659)
|
Definitive
|
|
|
KLHL7
(HGNC:15646)
|
PERCHING syndrome
(MONDO_0014890)
|
Limited
|
|
|
TLR7
(HGNC:15631)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
KLHL7
(HGNC:15646)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ALG9
(HGNC:15672)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Strong
|
|
|
ALG9
(HGNC:15672)
|
Gillessen-Kaesbach-Nishimura syndrome
(MONDO_0009890)
|
Strong
|
|
|
PHIP
(HGNC:15673)
|
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
(MONDO_0035133)
|
Strong
|
|
|
CTTNBP2
(HGNC:15679)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
LDB3
(HGNC:15710)
|
myofibrillar myopathy 4
(MONDO_0012277)
|
Limited
|
|
|
LDB3
(HGNC:15710)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
LDB3
(HGNC:15710)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
ALG9
(HGNC:15672)
|
ALG9-congenital disorder of glycosylation
(MONDO_0012117)
|
Strong
|
|
|
LDB3
(HGNC:15710)
|
familial dilated cardiomyopathy
(MONDO_0016333)
|
Moderate
|
|
|
LRPPRC
(HGNC:15714)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
LRPPRC
(HGNC:15714)
|
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
(MONDO_0009069)
|
Strong
|
|
|
GEMIN4
(HGNC:15717)
|
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
(MONDO_0060664)
|
Strong
|
|
|
OBSCN
(HGNC:15719)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
OBSCN
(HGNC:15719)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
OSBPL2
(HGNC:15761)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Moderate
|
|
|
KRIT1
(HGNC:1573)
|
famililal cerebral cavernous malformations
(MONDO_0031037)
|
Definitive
|
|
|
ULK4
(HGNC:15784)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
GATA5
(HGNC:15802)
|
familial bicuspid aortic valve
(MONDO_0007194)
|
Disputed
|
|
|
GATA5
(HGNC:15802)
|
familial atrial fibrillation
(MONDO_0018054)
|
Limited
|
|
|
GATA5
(HGNC:15802)
|
tetralogy of fallot
(MONDO_0008542)
|
Moderate
|
|
|
OVOL2
(HGNC:15804)
|
posterior polymorphous corneal dystrophy 1
(MONDO_0007378)
|
Moderate
|
|
|
ANKRD1
(HGNC:15819)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
ANKRD1
(HGNC:15819)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
BSCL2
(HGNC:15832)
|
hereditary spastic paraplegia 17
(MONDO_0010043)
|
Strong
|
|
|
BSCL2
(HGNC:15832)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
BSCL2
(HGNC:15832)
|
congenital generalized lipodystrophy type 2
(MONDO_0010020)
|
Definitive
|
|
|
OVOL2
(HGNC:15804)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Strong
|
|
|
BSCL2
(HGNC:15832)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Definitive
|
|
|
PROKR2
(HGNC:15836)
|
septooptic dysplasia
(MONDO_0008428)
|
Limited
|
|
|
PROKR2
(HGNC:15836)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
CCND2
(HGNC:1583)
|
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
(MONDO_0019375)
|
Definitive
|
|
|
PROKR2
(HGNC:15836)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
KMT2B
(HGNC:15840)
|
dystonia 28, childhood-onset
(MONDO_0015004)
|
Definitive
|
|
|
KMT2B
(HGNC:15840)
|
intellectual developmental disorder, autosomal dominant 68
(MONDO_0030969)
|
Strong
|
|
|
TASP1
(HGNC:15859)
|
Suleiman-El-Hattab syndrome
(MONDO_0033532)
|
Strong
|
|
|
ARFGEF2
(HGNC:15853)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Limited
|
|
|
PRPF6
(HGNC:15860)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
RBCK1
(HGNC:15864)
|
polyglucosan body myopathy 1 with or without immunodeficiency
(MONDO_0014389)
|
Strong
|
|
|
KIZ
(HGNC:15865)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
TMEM230
(HGNC:15876)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
MYH7B
(HGNC:15906)
|
left ventricular noncompaction
(MONDO_0018901)
|
Limited
|
|
|
RTEL1
(HGNC:15888)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Strong
|
|
|
RTEL1
(HGNC:15888)
|
dyskeratosis congenita
(MONDO_0015780)
|
Definitive
|
|
|
NOP56
(HGNC:15911)
|
spinocerebellar ataxia type 36
(MONDO_0013594)
|
Strong
|
|
|
PLCB1
(HGNC:15917)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
PLCB1
(HGNC:15917)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
SALL4
(HGNC:15924)
|
Duane retraction syndrome
(MONDO_0007473)
|
Limited
|
|
|
SALL4
(HGNC:15924)
|
Duane-radial ray syndrome
(MONDO_0011812)
|
Strong
|
|
|
SAMHD1
(HGNC:15925)
|
Moyamoya disease
(MONDO_0016820)
|
Limited
|
|
|
RP1L1
(HGNC:15946)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
SAMHD1
(HGNC:15925)
|
Aicardi-Goutieres syndrome 5
(MONDO_0013059)
|
Limited
|
|
|
GDAP1
(HGNC:15968)
|
Charcot-Marie-Tooth disease type 4A
(MONDO_0008961)
|
Definitive
|
|
|
GDAP1
(HGNC:15968)
|
Charcot-Marie-Tooth disease axonal type 2K
(MONDO_0011916)
|
Strong
|
|
|
TP63
(HGNC:15979)
|
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
(MONDO_0007124)
|
Strong
|
|
|
TP63
(HGNC:15979)
|
ADULT syndrome
(MONDO_0007072)
|
Strong
|
|
|
TP63
(HGNC:15979)
|
Rapp-Hodgkin syndrome
(MONDO_0007508)
|
Strong
|
|
|
TP63
(HGNC:15979)
|
split hand-foot malformation 4
(MONDO_0011535)
|
Limited
|
|
|
TP63
(HGNC:15979)
|
EEC syndrome
(MONDO_0010004)
|
Definitive
|
|
|
TP63
(HGNC:15979)
|
limb-mammary syndrome
(MONDO_0011334)
|
Moderate
|
|
|
TP63
(HGNC:15979)
|
split hand-foot malformation
(MONDO_0016576)
|
Limited
|
|
|
NAV3
(HGNC:15998)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
SELENON
(HGNC:15999)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Moderate
|
|
|
SELENON
(HGNC:15999)
|
rigid spine muscular dystrophy 1
(MONDO_0011271)
|
Definitive
|
|
|
SELENON
(HGNC:15999)
|
desmin-related myopathy with Mallory body-like inclusions
(MONDO_0019398)
|
Limited
|
|
|
SUGCT
(HGNC:16001)
|
glutaric acidemia type 3
(MONDO_0009283)
|
Strong
|
|
|
STRC
(HGNC:16035)
|
autosomal recessive nonsyndromic hearing loss 16
(MONDO_0011364)
|
Strong
|
|
|
CFAP52
(HGNC:16053)
|
situs inversus
(MONDO_0010029)
|
Limited
|
|
|
RAB33B
(HGNC:16075)
|
Smith-McCort dysplasia 2
(MONDO_0014087)
|
Limited
|
|
|
RAB33B
(HGNC:16075)
|
Smith-McCort dysplasia
(MONDO_0015799)
|
Strong
|
|
|
MCM8
(HGNC:16147)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
TBC1D20
(HGNC:16133)
|
Warburg micro syndrome
(MONDO_0016649)
|
Strong
|
|
|
ACTL6B
(HGNC:160)
|
developmental and epileptic encephalopathy, 76
(MONDO_0032768)
|
Strong
|
|
|
SLC17A9
(HGNC:16192)
|
disseminated superficial actinic porokeratosis
(MONDO_0019212)
|
Limited
|
|
|
RSPO4
(HGNC:16175)
|
nonsyndromic congenital nail disorder 4
(MONDO_0008798)
|
Strong
|
|
|
TP53RK
(HGNC:16197)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
ACTL7A
(HGNC:161)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
MGME1
(HGNC:16205)
|
mitochondrial DNA depletion syndrome 11
(MONDO_0014039)
|
Limited
|
|
|
DNAJC5
(HGNC:16235)
|
ceroid lipofuscinosis, neuronal, 4 (Kufs type)
(MONDO_0008083)
|
Definitive
|
|
|
DNAJC5
(HGNC:16235)
|
adult neuronal ceroid lipofuscinosis
(MONDO_0019260)
|
Strong
|
|
|
MYLK2
(HGNC:16243)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
SUN5
(HGNC:16252)
|
spermatogenic failure 16
(MONDO_0014961)
|
Definitive
|
|
|
SLC19A3
(HGNC:16266)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
PNPLA6
(HGNC:16268)
|
cerebellar ataxia-hypogonadism syndrome
(MONDO_0008935)
|
Strong
|
|
|
PNPLA6
(HGNC:16268)
|
Laurence-Moon syndrome
(MONDO_0009514)
|
Definitive
|
|
|
PNPLA6
(HGNC:16268)
|
hereditary spastic paraplegia 39
(MONDO_0012787)
|
Limited
|
|
|
PNPLA6
(HGNC:16268)
|
trichomegaly-retina pigmentary degeneration-dwarfism syndrome
(MONDO_0010152)
|
Definitive
|
|
|
NFU1
(HGNC:16287)
|
multiple mitochondrial dysfunctions syndrome 1
(MONDO_0011582)
|
Strong
|
|
|
UPB1
(HGNC:16297)
|
beta-ureidopropionase deficiency
(MONDO_0013164)
|
Disputed
|
|
|
CD19
(HGNC:1633)
|
common variable immunodeficiency
(MONDO_0015517)
|
Strong
|
|
|
USH1G
(HGNC:16356)
|
Usher syndrome type 1
(MONDO_0010168)
|
Moderate
|
|
|
USH1G
(HGNC:16356)
|
Usher syndrome type 1G
(MONDO_0011748)
|
Limited
|
|
|
WHRN
(HGNC:16361)
|
Usher syndrome type 2
(MONDO_0016484)
|
Limited
|
|
|
PARK7
(HGNC:16369)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Strong
|
|
|
TRIM22
(HGNC:16379)
|
inflammatory bowel disease
(MONDO_0005265)
|
Moderate
|
|
|
TRIM32
(HGNC:16380)
|
Bardet-Biedl syndrome 11
(MONDO_0014439)
|
Limited
|
|
|
TRIM32
(HGNC:16380)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Moderate
|
|
|
TRIM32
(HGNC:16380)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
CARD11
(HGNC:16393)
|
immunodeficiency 11b with atopic dermatitis
(MONDO_0054697)
|
Limited
|
|
|
CARD11
(HGNC:16393)
|
BENTA disease
(MONDO_0014645)
|
Strong
|
|
|
NLRP3
(HGNC:16400)
|
keratitis fugax hereditaria
(MONDO_0007849)
|
Limited
|
|
|
NLRP3
(HGNC:16400)
|
Muckle-Wells syndrome
(MONDO_0008633)
|
Definitive
|
|
|
NLRP3
(HGNC:16400)
|
CINCA syndrome
(MONDO_0011776)
|
Definitive
|
|
|
NLRP3
(HGNC:16400)
|
cryopyrin-associated periodic syndrome
(MONDO_0016168)
|
Definitive
|
|
|
NLRP3
(HGNC:16400)
|
familial cold autoinflammatory syndrome
(MONDO_0018768)
|
Strong
|
|
|
EFHC1
(HGNC:16406)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
EFHC1
(HGNC:16406)
|
juvenile myoclonic epilepsy
(MONDO_0009696)
|
Strong
|
|
|
SLC4A11
(HGNC:16438)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Strong
|
|
|
SLC4A11
(HGNC:16438)
|
congenital hereditary endothelial dystrophy of cornea
(MONDO_0009019)
|
Definitive
|
|
|
SLC4A11
(HGNC:16438)
|
corneal dystrophy-perceptive deafness syndrome
(MONDO_0009015)
|
Definitive
|
|
|
SUFU
(HGNC:16466)
|
medulloblastoma
(MONDO_0007959)
|
Strong
|
|
|
SUFU
(HGNC:16466)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
SLC45A2
(HGNC:16472)
|
oculocutaneous albinism type 4
(MONDO_0011683)
|
Definitive
|
|
|
NME8
(HGNC:16473)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
ZMIZ1
(HGNC:16493)
|
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
(MONDO_0032855)
|
Strong
|
|
|
RAB39B
(HGNC:16499)
|
early-onset parkinsonism-intellectual disability syndrome
(MONDO_0010709)
|
Strong
|
|
|
BPIFC
(HGNC:16503)
|
trichilemmal cyst
(MONDO_0012328)
|
Limited
|
|
|
ZMIZ1
(HGNC:16493)
|
syndromic intellectual disability
(MONDO_0000508)
|
Strong
|
|
|
BSND
(HGNC:16512)
|
Bartter disease type 4A
(MONDO_0011242)
|
Strong
|
|
|
BSND
(HGNC:16512)
|
Bartter syndrome type 4
(MONDO_0019524)
|
Strong
|
|
|
TMC1
(HGNC:16513)
|
autosomal dominant nonsyndromic hearing loss 36
(MONDO_0011708)
|
Strong
|
|
|
RAPGEF4
(HGNC:16626)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
CHEK2
(HGNC:16627)
|
familial ovarian cancer
(MONDO_0016248)
|
Limited
|
|
|
TMC1
(HGNC:16513)
|
nonsyndromic genetic hearing loss
(MONDO_0019497)
|
Definitive
|
|
|
CHEK2
(HGNC:16627)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Strong
|
|
|
CHEK2
(HGNC:16627)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Limited
|
|
|
KGD4
(HGNC:16631)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
CHEK2
(HGNC:16627)
|
acute myeloid leukemia
(MONDO_0018874)
|
Disputed
|
|
|
KIF1B
(HGNC:16636)
|
Charcot-Marie-Tooth disease type 2A1
(MONDO_0007308)
|
Limited
|
|
|
KIF1B
(HGNC:16636)
|
pheochromocytoma
(MONDO_0008233)
|
Limited
|
|
|
CD36
(HGNC:1663)
|
platelet-type bleeding disorder 10
(MONDO_0012031)
|
Strong
|
|
|
SRRM2
(HGNC:16639)
|
intellectual developmental disorder, autosomal dominant 72
(MONDO_0957397)
|
Strong
|
|
|
IFITM5
(HGNC:16644)
|
osteogenesis imperfecta type 5
(MONDO_0012591)
|
Definitive
|
|
|
SCARB2
(HGNC:1665)
|
Unverricht-Lundborg syndrome
(MONDO_0009698)
|
Strong
|
|
|
SCARB2
(HGNC:1665)
|
action myoclonus-renal failure syndrome
(MONDO_0009699)
|
Definitive
|
|
|
SCARB2
(HGNC:1665)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Strong
|
|
|
TUBGCP4
(HGNC:16691)
|
microcephaly and chorioretinopathy 3
(MONDO_0014592)
|
Strong
|
|
|
ZFPM2
(HGNC:16700)
|
tetralogy of fallot
(MONDO_0008542)
|
Moderate
|
|
|
MCEE
(HGNC:16732)
|
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
(MONDO_0009615)
|
Strong
|
|
|
BCAP31
(HGNC:16695)
|
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
(MONDO_0010334)
|
Moderate
|
|
|
DHX30
(HGNC:16716)
|
neurodevelopmental disorder with severe motor impairment and absent language
(MONDO_0060622)
|
Definitive
|
|
|
ZBTB11
(HGNC:16740)
|
intellectual developmental disorder, autosomal recessive 69
(MONDO_0032715)
|
Strong
|
|
|
FBXO32
(HGNC:16731)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
CDC73
(HGNC:16783)
|
hyperparathyroidism 2 with jaw tumors
(MONDO_0007768)
|
Definitive
|
|
|
CD3D
(HGNC:1673)
|
immunodeficiency 19
(MONDO_0014280)
|
Limited
|
|
|
ZNF423
(HGNC:16762)
|
nephronophthisis
(MONDO_0019005)
|
Limited
|
|
|
TAOK2
(HGNC:16835)
|
autism spectrum disorder
(MONDO_0005258)
|
Strong
|
|
|
COQ8A
(HGNC:16812)
|
autosomal recessive ataxia due to ubiquinone deficiency
(MONDO_0012784)
|
Definitive
|
|
|
COQ8A
(HGNC:16812)
|
coenzyme Q10 deficiency
(MONDO_0018151)
|
Strong
|
|
|
LITAF
(HGNC:16841)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
CDC73
(HGNC:16783)
|
familial isolated hyperparathyroidism
(MONDO_0015027)
|
Strong
|
|
|
CDC73
(HGNC:16783)
|
parathyroid gland carcinoma
(MONDO_0012004)
|
Strong
|
|
|
LITAF
(HGNC:16841)
|
Charcot-Marie-Tooth disease type 1C
(MONDO_0010995)
|
Strong
|
|
|
FIG4
(HGNC:16873)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Definitive
|
|
|
FIG4
(HGNC:16873)
|
Yunis-Varon syndrome
(MONDO_0008995)
|
Strong
|
|
|
RAPGEF2
(HGNC:16854)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
CD59
(HGNC:1689)
|
primary CD59 deficiency
(MONDO_0012858)
|
Strong
|
|
|
BCKDK
(HGNC:16902)
|
branched-chain keto acid dehydrogenase kinase deficiency
(MONDO_0013970)
|
Definitive
|
|
|
NEBL
(HGNC:16932)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
DGAT2
(HGNC:16940)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Limited
|
|
|
ERLIN1
(HGNC:16947)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
ERLIN1
(HGNC:16947)
|
hereditary spastic paraplegia 62
(MONDO_0014302)
|
Moderate
|
|
|
ARPP21
(HGNC:16968)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Refuted
|
|
|
RRAGA
(HGNC:16963)
|
cataract
(MONDO_0005129)
|
Moderate
|
|
|
TRIOBP
(HGNC:17009)
|
autosomal recessive nonsyndromic hearing loss 28
(MONDO_0012355)
|
Strong
|
|
|
PRICKLE1
(HGNC:17019)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
PRICKLE1
(HGNC:17019)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Moderate
|
|
|
CD81
(HGNC:1701)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
PRICKLE1
(HGNC:17019)
|
Unverricht-Lundborg syndrome
(MONDO_0009698)
|
Refuted
|
|
|
ASTN2
(HGNC:17021)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
ASTN2
(HGNC:17021)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
MFN2
(HGNC:16877)
|
Charcot-Marie-Tooth disease type 2A2
(MONDO_0012231)
|
Definitive
|
|
|
SART3
(HGNC:16860)
|
disseminated superficial actinic porokeratosis
(MONDO_0019212)
|
Limited
|
|
|
FIG4
(HGNC:16873)
|
Charcot-Marie-Tooth disease type 4J
(MONDO_0012640)
|
Definitive
|
|
|
FIG4
(HGNC:16873)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
EXOSC8
(HGNC:17035)
|
pontocerebellar hypoplasia, type 1C
(MONDO_0014485)
|
Strong
|
|
|
MFN2
(HGNC:16877)
|
hereditary motor and sensory neuropathy type 6
(MONDO_0019551)
|
Strong
|
|
|
FIG4
(HGNC:16873)
|
amyotrophic lateral sclerosis type 11
(MONDO_0012945)
|
Limited
|
|
|
TNIP1
(HGNC:16903)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
HCN4
(HGNC:16882)
|
familial sick sinus syndrome
(MONDO_0012061)
|
Strong
|
|
|
RPH3A
(HGNC:17056)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Limited
|
|
|
EXOSC8
(HGNC:17035)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Limited
|
|
|
RPH3A
(HGNC:17056)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
MFN2
(HGNC:16877)
|
multiple symmetric lipomatosis
(MONDO_0007908)
|
Moderate
|
|
|
NIPA1
(HGNC:17043)
|
hereditary spastic paraplegia 6
(MONDO_0010878)
|
Definitive
|
|
|
ICOSLG
(HGNC:17087)
|
combined immunodeficiency
(MONDO_0015131)
|
Limited
|
|
|
SYNE1
(HGNC:17089)
|
autosomal recessive ataxia, Beauce type
(MONDO_0012549)
|
Strong
|
|
|
LARS2
(HGNC:17095)
|
Perrault syndrome
(MONDO_0017312)
|
Definitive
|
|
|
DICER1
(HGNC:17098)
|
pleuropulmonary blastoma
(MONDO_0011014)
|
Definitive
|
|
|
DICER1
(HGNC:17098)
|
DICER1-related tumor predisposition
(MONDO_0100216)
|
Definitive
|
|
|
RAB3GAP1
(HGNC:17063)
|
Warburg micro syndrome 1
(MONDO_0010822)
|
Definitive
|
|
|
DICER1
(HGNC:17098)
|
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
(MONDO_0018445)
|
Moderate
|
|
|
SUZ12
(HGNC:17101)
|
Imagawa-Matsumoto syndrome
(MONDO_0032916)
|
Moderate
|
|
|
SUZ12
(HGNC:17101)
|
Weaver syndrome
(MONDO_0010193)
|
Strong
|
|
|
CDON
(HGNC:17104)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
TNPO3
(HGNC:17103)
|
autosomal dominant limb-girdle muscular dystrophy type 1F
(MONDO_0012034)
|
Strong
|
|
|
ADAMTS17
(HGNC:17109)
|
Weill-Marchesani 4 syndrome, recessive
(MONDO_0013176)
|
Strong
|
|
|
CDAN1
(HGNC:1713)
|
congenital dyserythropoietic anemia type 1
(MONDO_0020337)
|
Definitive
|
|
|
CDAN1
(HGNC:1713)
|
congenital dyserythropoietic anemia
(MONDO_0019403)
|
Definitive
|
|
|
OPTN
(HGNC:17142)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
ORC6
(HGNC:17151)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
RAB3GAP2
(HGNC:17168)
|
Warburg micro syndrome 2
(MONDO_0013641)
|
Strong
|
|
|
CDC14A
(HGNC:1718)
|
autosomal recessive nonsyndromic hearing loss 32
(MONDO_0012091)
|
Strong
|
|
|
NDUFA13
(HGNC:17194)
|
mitochondrial complex 1 deficiency, nuclear type 28
(MONDO_0032632)
|
Strong
|
|
|
ACVR1
(HGNC:171)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
DHX37
(HGNC:17210)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Strong
|
|
|
CHSY1
(HGNC:17198)
|
temtamy preaxial brachydactyly syndrome
(MONDO_0011533)
|
Strong
|
|
|
POLR1A
(HGNC:17264)
|
acrofacial dysostosis Cincinnati type
(MONDO_0014651)
|
Moderate
|
|
|
AGTPBP1
(HGNC:17258)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Moderate
|
|
|
COLEC11
(HGNC:17213)
|
3MC syndrome
(MONDO_0017398)
|
Strong
|
|
|
CENPJ
(HGNC:17272)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Limited
|
|
|
CENPJ
(HGNC:17272)
|
Seckel syndrome
(MONDO_0019342)
|
Strong
|
|
|
DHX37
(HGNC:17210)
|
46,XY sex reversal 11
(MONDO_8000015)
|
Strong
|
|
|
RRM2B
(HGNC:17296)
|
Kearns-Sayre syndrome
(MONDO_0010787)
|
Limited
|
|
|
APOA5
(HGNC:17288)
|
hyperlipoproteinemia type V
(MONDO_0007762)
|
Moderate
|
|
|
SP7
(HGNC:17321)
|
osteogenesis imperfecta type 12
(MONDO_0013460)
|
Limited
|
|
|
RIMS1
(HGNC:17282)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
RRM2B
(HGNC:17296)
|
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
|
Limited
|
|
|
WAC
(HGNC:17327)
|
DeSanto-Shinawi syndrome
(MONDO_0018760)
|
Strong
|
|
|
DTNBP1
(HGNC:17328)
|
Hermansky-Pudlak syndrome 7
(MONDO_0013559)
|
Limited
|
|
|
CDK13
(HGNC:1733)
|
syndromic intellectual disability
(MONDO_0000508)
|
Strong
|
|
|
PRPF8
(HGNC:17340)
|
glaucoma
(MONDO_0005041)
|
Strong
|
|
|
PRPF8
(HGNC:17340)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
BRWD3
(HGNC:17342)
|
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
|
Limited
|
|
|
PRPF8
(HGNC:17340)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
PRPF3
(HGNC:17348)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
BRWD3
(HGNC:17342)
|
West syndrome
(MONDO_0018097)
|
Limited
|
|
|
CDC42
(HGNC:1736)
|
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
(MONDO_0014757)
|
Moderate
|
|
|
PRPF4
(HGNC:17349)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CDC45
(HGNC:1739)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
CDC45
(HGNC:1739)
|
Meier-Gorlin syndrome 7
(MONDO_0014894)
|
Limited
|
|
|
TPK1
(HGNC:17358)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
HOMER2
(HGNC:17513)
|
nonsyndromic genetic hearing loss
(MONDO_0019497)
|
Strong
|
|
|
CLCF1
(HGNC:17412)
|
cold-induced sweating syndrome
(MONDO_0015526)
|
Moderate
|
|
|
CDH15
(HGNC:1754)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CDC6
(HGNC:1744)
|
Meier-Gorlin syndrome 5
(MONDO_0013432)
|
Limited
|
|
|
CDH1
(HGNC:1748)
|
hereditary diffuse gastric adenocarcinoma
(MONDO_0007648)
|
Strong
|
|
|
CDH2
(HGNC:1759)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Moderate
|
|
|
SPEN
(HGNC:17575)
|
Radio-Tartaglia syndrome
(MONDO_0859143)
|
Strong
|
|
|
KAT6B
(HGNC:17582)
|
RASopathy
(MONDO_0021060)
|
Limited
|
|
|
CDH2
(HGNC:1759)
|
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
(MONDO_0030065)
|
Strong
|
|
|
ACVRL1
(HGNC:175)
|
telangiectasia, hereditary hemorrhagic, type 2
(MONDO_0010880)
|
Definitive
|
|
|
ZNF674
(HGNC:17625)
|
X-linked intellectual disability
(MONDO_0100284)
|
Disputed
|
|
|
NDE1
(HGNC:17619)
|
NDE1-related microhydranencephaly
(MONDO_0011504)
|
Moderate
|
|
|
ZNF674
(HGNC:17625)
|
intellectual disability
(MONDO_0001071)
|
Disputed
|
|
|
CDH3
(HGNC:1762)
|
EEM syndrome
(MONDO_0009155)
|
Limited
|
|
|
IL17RD
(HGNC:17616)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
CDC6
(HGNC:1744)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Limited
|
|
|
DACT1
(HGNC:17748)
|
Townes-Brocks syndrome
(MONDO_0007142)
|
Moderate
|
|
|
DCLRE1C
(HGNC:17642)
|
Omenn syndrome
(MONDO_0011338)
|
Definitive
|
|
|
ADGRV1
(HGNC:17416)
|
Usher syndrome type 2C
(MONDO_0011558)
|
Definitive
|
|
|
THSD1
(HGNC:17754)
|
non-immune hydrops fetalis
(MONDO_0009369)
|
Strong
|
|
|
CLCF1
(HGNC:17412)
|
Cold-induced sweating syndrome 1
(MONDO_0010091)
|
Moderate
|
|
|
TNFRSF13C
(HGNC:17755)
|
common variable immunodeficiency
(MONDO_0015517)
|
Moderate
|
|
|
CDK6
(HGNC:1777)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
MAP3K20
(HGNC:17797)
|
split hand-foot malformation
(MONDO_0016576)
|
Limited
|
|
|
ZFTRAF1
(HGNC:17806)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
NUP188
(HGNC:17859)
|
sandestig-stefanova syndrome
(MONDO_0032926)
|
Moderate
|
|
|
CDKN1B
(HGNC:1785)
|
multiple endocrine neoplasia type 4
(MONDO_0012552)
|
Strong
|
|
|
NT5C3A
(HGNC:17820)
|
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
(MONDO_0009946)
|
Strong
|
|
|
TRAF3IP1
(HGNC:17861)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Limited
|
|
|
AFF4
(HGNC:17869)
|
cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
(MONDO_0014609)
|
Moderate
|
|
|
CDKN1C
(HGNC:1786)
|
Silver-Russell syndrome
(MONDO_0008394)
|
Strong
|
|
|
CDH11
(HGNC:1750)
|
Elsahy-Waters syndrome
(MONDO_0008885)
|
Moderate
|
|
|
INVS
(HGNC:17870)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Limited
|
|
|
INVS
(HGNC:17870)
|
nephronophthisis 2
(MONDO_0011190)
|
Limited
|
|
|
CDKN1B
(HGNC:1785)
|
multiple endocrine neoplasia
(MONDO_0017169)
|
Strong
|
|
|
NMNAT1
(HGNC:17877)
|
Leber congenital amaurosis 9
(MONDO_0012056)
|
Definitive
|
|
|
ADGRV1
(HGNC:17416)
|
Usher syndrome type 2
(MONDO_0016484)
|
Definitive
|
|
|
HOMER2
(HGNC:17513)
|
autosomal dominant nonsyndromic hearing loss 68
(MONDO_0014740)
|
Strong
|
|
|
NMNAT1
(HGNC:17877)
|
cone-rod dystrophy
(MONDO_0015993)
|
Moderate
|
|
|
SARS2
(HGNC:17697)
|
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
(MONDO_0013458)
|
Strong
|
|
|
GJC2
(HGNC:17494)
|
hypomyelinating leukodystrophy 2
(MONDO_0012125)
|
Definitive
|
|
|
NMNAT1
(HGNC:17877)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
DACT1
(HGNC:17748)
|
Townes-Brocks syndrome 2
(MONDO_0054582)
|
Strong
|
|
|
CDKN2A
(HGNC:1787)
|
melanoma and neural system tumor syndrome
(MONDO_0007967)
|
Limited
|
|
|
CDKN2A
(HGNC:1787)
|
melanoma-pancreatic cancer syndrome
(MONDO_0011713)
|
Limited
|
|
|
GJC2
(HGNC:17494)
|
hereditary spastic paraplegia 44
(MONDO_0013179)
|
Limited
|
|
|
CDKN2B
(HGNC:1788)
|
renal cell carcinoma
(MONDO_0005086)
|
Strong
|
|
|
PGAP2
(HGNC:17893)
|
hyperphosphatasia with intellectual disability syndrome 3
(MONDO_0013628)
|
Strong
|
|
|
CDKN2A
(HGNC:1787)
|
familial atypical multiple mole melanoma syndrome
(MONDO_0018453)
|
Definitive
|
|
|
PSMC3IP
(HGNC:17928)
|
46 XX gonadal dysgenesis
(MONDO_0009299)
|
Limited
|
|
|
PGAP2
(HGNC:17893)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
REEP2
(HGNC:17975)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Moderate
|
|
|
SLC22A12
(HGNC:17989)
|
hereditary renal hypouricemia
(MONDO_0009071)
|
Definitive
|
|
|
CDKN2A
(HGNC:1787)
|
melanoma, cutaneous malignant, susceptibility to, 2
(MONDO_0007964)
|
Strong
|
|
|
B3GALT6
(HGNC:17978)
|
spondyloepimetaphyseal dysplasia with joint laxity
(MONDO_0019675)
|
Definitive
|
|
|
TRPM4
(HGNC:17993)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Moderate
|
|
|
EXOSC3
(HGNC:17944)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Definitive
|
|
|
FKRP
(HGNC:17997)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
FKRP
(HGNC:17997)
|
muscular dystrophy-dystroglycanopathy type B5
(MONDO_0011688)
|
Definitive
|
|
|
TRPM4
(HGNC:17993)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
FKRP
(HGNC:17997)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
AADAC
(HGNC:17)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
CDSN
(HGNC:1802)
|
hypotrichosis 2
(MONDO_0007805)
|
Strong
|
|
|
FKRP
(HGNC:17997)
|
autosomal recessive limb-girdle muscular dystrophy type 2I
(MONDO_0011787)
|
Definitive
|
|
|
NUP160
(HGNC:18017)
|
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
|
Limited
|
|
|
TMC6
(HGNC:18021)
|
epidermodysplasia verruciformis
(MONDO_0009176)
|
Definitive
|
|
|
ARID2
(HGNC:18037)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
KDM5B
(HGNC:18039)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
ARID2
(HGNC:18037)
|
Coffin-Siris syndrome 6
(MONDO_0033492)
|
Strong
|
|
|
ARID1B
(HGNC:18040)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Definitive
|
|
|
PKD1L1
(HGNC:18053)
|
situs inversus
(MONDO_0010029)
|
Moderate
|
|
|
ARX
(HGNC:18060)
|
corpus callosum agenesis-abnormal genitalia syndrome
(MONDO_0010224)
|
Strong
|
|
|
ARX
(HGNC:18060)
|
X-linked lissencephaly with abnormal genitalia
(MONDO_0010268)
|
Definitive
|
|
|
ARX
(HGNC:18060)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
ARX
(HGNC:18060)
|
infantile epileptic-dyskinetic encephalopathy
(MONDO_0018226)
|
Strong
|
|
|
ARID1B
(HGNC:18040)
|
Coffin-Siris syndrome 1
(MONDO_0007617)
|
Definitive
|
|
|
ARX
(HGNC:18060)
|
Partington syndrome
(MONDO_0010654)
|
Definitive
|
|
|
ARX
(HGNC:18060)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
ARX
(HGNC:18060)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Moderate
|
|
|
TRPV4
(HGNC:18083)
|
autosomal dominant brachyolmia
(MONDO_0007232)
|
Strong
|
|
|
TRPV4
(HGNC:18083)
|
metatropic dysplasia
(MONDO_0007986)
|
Definitive
|
|
|
TRPV4
(HGNC:18083)
|
parastremmatic dwarfism
(MONDO_0008196)
|
Strong
|
|
|
TRPV4
(HGNC:18083)
|
scapuloperoneal spinal muscular atrophy, autosomal dominant
(MONDO_0008408)
|
Definitive
|
|
|
TRPV4
(HGNC:18083)
|
spondylometaphyseal dysplasia, Kozlowski type
(MONDO_0008477)
|
Strong
|
|
|
TRPV4
(HGNC:18083)
|
neuronopathy, distal hereditary motor, autosomal dominant 8
(MONDO_0010839)
|
Limited
|
|
|
TRPV4
(HGNC:18083)
|
familial digital arthropathy-brachydactyly
(MONDO_0011732)
|
Moderate
|
|
|
TRPV4
(HGNC:18083)
|
neuromuscular disease
(MONDO_0019056)
|
Limited
|
|
|
MFRP
(HGNC:18121)
|
nanophthalmia
(MONDO_0005514)
|
Definitive
|
|
|
SOX17
(HGNC:18122)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
AFG2A
(HGNC:18119)
|
microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
(MONDO_0014698)
|
Strong
|
|
|
DCDC2
(HGNC:18141)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
PHF6
(HGNC:18145)
|
Borjeson-Forssman-Lehmann syndrome
(MONDO_0010537)
|
Strong
|
|
|
TXNRD2
(HGNC:18155)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
osteogenesis imperfecta type 3
(MONDO_0009804)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
osteogenesis imperfecta type 11
(MONDO_0012592)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
Bruck syndrome 1
(MONDO_0009806)
|
Strong
|
|
|
FKBP10
(HGNC:18169)
|
arthrogryposis-like syndrome
(MONDO_0015241)
|
Strong
|
|
|
VPS33A
(HGNC:18179)
|
mucopolysaccharidosis-plus syndrome
(MONDO_0015012)
|
Definitive
|
|
|
GIPC3
(HGNC:18183)
|
autosomal recessive nonsyndromic hearing loss 15
(MONDO_0011160)
|
Strong
|
|
|
TMCO1
(HGNC:18188)
|
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
(MONDO_0800436)
|
Strong
|
|
|
RBFOX1
(HGNC:18222)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|
|
RCBTB1
(HGNC:18243)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Disputed
|
|
|
MOCOS
(HGNC:18234)
|
xanthinuria type II
(MONDO_0011346)
|
Limited
|
|
|
RBFOX1
(HGNC:18222)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
BANK1
(HGNC:18233)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
ATP6V0D2
(HGNC:18266)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Limited
|
|
|
KCTD1
(HGNC:18249)
|
scalp-ear-nipple syndrome
(MONDO_0008404)
|
Strong
|
|
|
RAX2
(HGNC:18286)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
TXNRD2
(HGNC:18155)
|
familial glucocorticoid deficiency
(MONDO_0008733)
|
Moderate
|
|
|
ASXL1
(HGNC:18318)
|
Bohring-Opitz syndrome
(MONDO_0011510)
|
Definitive
|
|
|
PADI3
(HGNC:18337)
|
uncombable hair syndrome
(MONDO_0008621)
|
Strong
|
|
|
CEBPA
(HGNC:1833)
|
acute myeloid leukemia
(MONDO_0018874)
|
Definitive
|
|
|
WDR19
(HGNC:18340)
|
cranioectodermal dysplasia
(MONDO_0009032)
|
Strong
|
|
|
ALG1
(HGNC:18294)
|
ALG1-congenital disorder of glycosylation
(MONDO_0012052)
|
Definitive
|
|
|
WDR19
(HGNC:18340)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
WDR19
(HGNC:18340)
|
nephronophthisis 13
(MONDO_0013718)
|
Moderate
|
|
|
WDR19
(HGNC:18340)
|
Jeune syndrome
(MONDO_0018770)
|
Limited
|
|
|
TENT5A
(HGNC:18345)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Moderate
|
|
|
IMPG2
(HGNC:18362)
|
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
|
Strong
|
|
|
IL17RC
(HGNC:18358)
|
chronic mucocutaneous candidiasis
(MONDO_0015279)
|
Moderate
|
|
|
WDR19
(HGNC:18340)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Moderate
|
|
|
IMPG2
(HGNC:18362)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Limited
|
|
|
IMPG2
(HGNC:18362)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CEBPE
(HGNC:1836)
|
specific granule deficiency
(MONDO_0009506)
|
Moderate
|
|
|
SMARCAD1
(HGNC:18398)
|
isolated congenital adermatoglyphia
(MONDO_0007619)
|
Strong
|
|
|
SMARCAD1
(HGNC:18398)
|
palmoplantar keratoderma-sclerodactyly syndrome
(MONDO_0008416)
|
Strong
|
|
|
ADA2
(HGNC:1839)
|
Sneddon syndrome
(MONDO_0008436)
|
Strong
|
|
|
HPSE2
(HGNC:18374)
|
Ochoa syndrome
(MONDO_0000463)
|
Strong
|
|
|
ADA2
(HGNC:1839)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
SETD2
(HGNC:18420)
|
Sotos syndrome
(MONDO_0019349)
|
Moderate
|
|
|
SETD2
(HGNC:18420)
|
Luscan-Lumish syndrome
(MONDO_0014791)
|
Definitive
|
|
|
HAVCR2
(HGNC:18437)
|
subcutaneous panniculitis-like T-cell lymphoma
(MONDO_0019475)
|
Strong
|
|
|
MCFD2
(HGNC:18451)
|
combined deficiency of factor V and factor VIII
(MONDO_0018175)
|
Definitive
|
|
|
NAXE
(HGNC:18453)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
PROK2
(HGNC:18455)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
DEPDC5
(HGNC:18423)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Strong
|
|
|
ZDHHC5
(HGNC:18472)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
ATP6V0A2
(HGNC:18481)
|
wrinkly skin syndrome
(MONDO_0010208)
|
Definitive
|
|
|
ZDHHC9
(HGNC:18475)
|
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
|
Limited
|
|
|
PROK2
(HGNC:18455)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
CEL
(HGNC:1848)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
CELSR1
(HGNC:1850)
|
hydrops fetalis
(MONDO_0015193)
|
Moderate
|
|
|
ATP6V0A2
(HGNC:18481)
|
autosomal recessive cutis laxa type 2A
(MONDO_0018163)
|
Definitive
|
|
|
CEL
(HGNC:1848)
|
maturity-onset diabetes of the young type 8
(MONDO_0012348)
|
Strong
|
|
|
RNF43
(HGNC:18505)
|
hyperplastic polyposis syndrome
(MONDO_0015524)
|
Limited
|
|
|
CYS1
(HGNC:18525)
|
polycystic kidney disease
(MONDO_0020642)
|
Limited
|
|
|
CENPE
(HGNC:1856)
|
Seckel syndrome
(MONDO_0019342)
|
Limited
|
|
|
RNASEH2A
(HGNC:18518)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
CENPE
(HGNC:1856)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Limited
|
|
|
CENPF
(HGNC:1857)
|
Stromme syndrome
(MONDO_0009477)
|
Moderate
|
|
|
NEK10
(HGNC:18592)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
CEP250
(HGNC:1859)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
NEK9
(HGNC:18591)
|
NEK9-related lethal skeletal dysplasia
(MONDO_0014870)
|
Limited
|
|
|
LRRK2
(HGNC:18618)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
CPT1C
(HGNC:18540)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Limited
|
|
|
CPT1C
(HGNC:18540)
|
hereditary spastic paraplegia 73
(MONDO_0014568)
|
Limited
|
|
|
LRRK2
(HGNC:18618)
|
autosomal dominant Parkinson disease 8
(MONDO_0011764)
|
Strong
|
|
|
COG7
(HGNC:18622)
|
COG7-congenital disorder of glycosylation
(MONDO_0012118)
|
Moderate
|
|
|
COG6
(HGNC:18621)
|
COG6-congenital disorder of glycosylation
(MONDO_0013810)
|
Strong
|
|
|
NAA10
(HGNC:18704)
|
microphthalmia, syndromic 1
(MONDO_0010671)
|
Limited
|
|
|
CDK5RAP2
(HGNC:18672)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
PMPCA
(HGNC:18667)
|
autosomal recessive spinocerebellar ataxia 2
(MONDO_0008943)
|
Limited
|
|
|
GRIP1
(HGNC:18708)
|
Fraser syndrome
(MONDO_0009046)
|
Moderate
|
|
|
DNAI2
(HGNC:18744)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
IFT27
(HGNC:18626)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
SLURP1
(HGNC:18746)
|
palmoplantar keratosis
(MONDO_0006590)
|
Moderate
|
|
|
RHOBTB2
(HGNC:18756)
|
developmental and epileptic encephalopathy, 64
(MONDO_0033373)
|
Strong
|
|
|
SLC36A2
(HGNC:18762)
|
hyperglycinuria
(MONDO_0007677)
|
Moderate
|
|
|
BBS7
(HGNC:18758)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
SLC36A2
(HGNC:18762)
|
iminoglycinuria
(MONDO_0009448)
|
Strong
|
|
|
ZFP57
(HGNC:18791)
|
transient neonatal diabetes mellitus
(MONDO_0020525)
|
Moderate
|
|
|
HPS6
(HGNC:18817)
|
Hermansky-Pudlak syndrome 6
(MONDO_0013558)
|
Strong
|
|
|
CAMTA1
(HGNC:18806)
|
cerebellar dysfunction with variable cognitive and behavioral abnormalities
(MONDO_0013886)
|
Strong
|
|
|
NDUFAF1
(HGNC:18828)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
LIPI
(HGNC:18821)
|
hypertriglyceridemia
(MONDO_0005347)
|
Limited
|
|
|
NDUFAF1
(HGNC:18828)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
CTHRC1
(HGNC:18831)
|
Barrett esophagus
(MONDO_0013662)
|
Limited
|
|
|
PMPCA
(HGNC:18667)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
PPP1R13L
(HGNC:18838)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
CFTR
(HGNC:1884)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Strong
|
|
|
CDK5RAP2
(HGNC:18672)
|
corpus callosum, agenesis of
(MONDO_0009022)
|
Limited
|
|
|
COG8
(HGNC:18623)
|
COG8-congenital disorder of glycosylation
(MONDO_0012635)
|
Moderate
|
|
|
LDLRAP1
(HGNC:18640)
|
homozygous familial hypercholesterolemia
(MONDO_0018328)
|
Strong
|
|
|
CFTR
(HGNC:1884)
|
cystic fibrosis
(MONDO_0009061)
|
Definitive
|
|
|
CFTR
(HGNC:1884)
|
congenital bilateral absence of vas deferens
(MONDO_0018801)
|
Definitive
|
|
|
KCNT1
(HGNC:18865)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Strong
|
|
|
CREB3L3
(HGNC:18855)
|
hypertriglyceridemia
(MONDO_0005347)
|
Strong
|
|
|
KCNT1
(HGNC:18865)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Strong
|
|
|
MMAA
(HGNC:18871)
|
methylmalonic aciduria, cblA type
(MONDO_0009613)
|
Definitive
|
|
|
IFIH1
(HGNC:18873)
|
Singleton-Merten dysplasia
(MONDO_0008429)
|
Strong
|
|
|
IFIH1
(HGNC:18873)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
IFIH1
(HGNC:18873)
|
Singleton-Merten syndrome 1
(MONDO_0024535)
|
Strong
|
|
|
IFIH1
(HGNC:18873)
|
Aicardi-Goutieres syndrome 7
(MONDO_0014367)
|
Moderate
|
|
|
TDP1
(HGNC:18884)
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
(MONDO_0011801)
|
Definitive
|
|
|
AP1S3
(HGNC:18971)
|
pustulosis palmaris et plantaris
(MONDO_0015597)
|
Limited
|
|
|
AP1S3
(HGNC:18971)
|
psoriasis 14, pustular
(MONDO_0013626)
|
Limited
|
|
|
MAST1
(HGNC:19034)
|
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
(MONDO_0032648)
|
Limited
|
|
|
DCXR
(HGNC:18985)
|
pentosuria
(MONDO_0009846)
|
Strong
|
|
|
GBA2
(HGNC:18986)
|
hereditary spastic paraplegia 46
(MONDO_0013737)
|
Moderate
|
|
|
THOC2
(HGNC:19073)
|
X-linked intellectual disability-short stature-overweight syndrome
(MONDO_0010496)
|
Limited
|
|
|
NALCN
(HGNC:19082)
|
Freeman-Sheldon syndrome
(MONDO_0008675)
|
Moderate
|
|
|
NALCN
(HGNC:19082)
|
congenital contractures of the limbs and face, hypotonia, and developmental delay
(MONDO_0014556)
|
Definitive
|
|
|
RIGI
(HGNC:19102)
|
Singleton-Merten dysplasia
(MONDO_0008429)
|
Definitive
|
|
|
FGD4
(HGNC:19125)
|
Charcot-Marie-Tooth disease type 4H
(MONDO_0012250)
|
Strong
|
|
|
NPHP4
(HGNC:19104)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Moderate
|
|
|
PSAT1
(HGNC:19129)
|
Neu-Laxova syndrome
(MONDO_0000179)
|
Strong
|
|
|
RTTN
(HGNC:18654)
|
bilateral generalized polymicrogyria
(MONDO_0013907)
|
Moderate
|
|
|
FGD4
(HGNC:19125)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
CRB2
(HGNC:18688)
|
ventriculomegaly-cystic kidney disease
(MONDO_0009063)
|
Strong
|
|
|
CRB2
(HGNC:18688)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
PSAT1
(HGNC:19129)
|
PSAT deficiency
(MONDO_0012596)
|
Moderate
|
|
|
PSAT1
(HGNC:19129)
|
neurometabolic disorder due to serine deficiency
(MONDO_0018162)
|
Moderate
|
|
|
HS6ST2
(HGNC:19133)
|
Paganini-Miozzo syndrome
(MONDO_0026724)
|
Limited
|
|
|
POMGNT1
(HGNC:19139)
|
autosomal recessive limb-girdle muscular dystrophy type 2O
(MONDO_0013161)
|
Limited
|
|
|
POMGNT1
(HGNC:19139)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Definitive
|
|
|
CHD1
(HGNC:1915)
|
Pilarowski-Bjornsson syndrome
(MONDO_0060568)
|
Limited
|
|
|
POMGNT1
(HGNC:19139)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
KIF17
(HGNC:19167)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
CHD1L
(HGNC:1916)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Moderate
|
|
|
CHD2
(HGNC:1917)
|
Lennox-Gastaut syndrome
(MONDO_0016532)
|
Limited
|
|
|
CHD2
(HGNC:1917)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Limited
|
|
|
KIF14
(HGNC:19181)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
FRAS1
(HGNC:19185)
|
Fraser syndrome
(MONDO_0009046)
|
Definitive
|
|
|
CHEK1
(HGNC:1925)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
CHD4
(HGNC:1919)
|
Sifrim-Hitz-Weiss syndrome
(MONDO_0014946)
|
Definitive
|
|
|
TTC5
(HGNC:19274)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
MTO1
(HGNC:19261)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
CHD3
(HGNC:1918)
|
Snijders Blok-Campeau syndrome
(MONDO_0032600)
|
Definitive
|
|
|
P3H1
(HGNC:19316)
|
osteogenesis imperfecta type 3
(MONDO_0009804)
|
Definitive
|
|
|
P3H1
(HGNC:19316)
|
osteogenesis imperfecta type 8
(MONDO_0012581)
|
Definitive
|
|
|
CHI3L1
(HGNC:1932)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
KIF21A
(HGNC:19349)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Strong
|
|
|
MMAB
(HGNC:19331)
|
methylmalonic aciduria, cblB type
(MONDO_0009614)
|
Definitive
|
|
|
CUX2
(HGNC:19347)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
KIF21A
(HGNC:19349)
|
congenital fibrosis of extraocular muscles type 1
(MONDO_0021083)
|
Definitive
|
|
|
SIN3A
(HGNC:19353)
|
congenital diaphragmatic hernia
(MONDO_0005711)
|
Moderate
|
|
|
CHKB
(HGNC:1938)
|
megaconial type congenital muscular dystrophy
(MONDO_0011246)
|
Definitive
|
|
|
SOCS1
(HGNC:19383)
|
autoimmune disease
(MONDO_0007179)
|
Strong
|
|
|
SOCS4
(HGNC:19392)
|
autoimmune disease
(MONDO_0007179)
|
Limited
|
|
|
ZMYND10
(HGNC:19412)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CHRNA1
(HGNC:1955)
|
postsynaptic congenital myasthenic syndrome
(MONDO_0020344)
|
Limited
|
|
|
SBDS
(HGNC:19440)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Definitive
|
|
|
ADA
(HGNC:186)
|
Omenn syndrome
(MONDO_0011338)
|
Strong
|
|
|
CHRNA1
(HGNC:1955)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Moderate
|
|
|
CHRNA2
(HGNC:1956)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Limited
|
|
|
CHRNA4
(HGNC:1958)
|
sleep-related hypermotor epilepsy
(MONDO_0000030)
|
Moderate
|
|
|
CHRNA2
(HGNC:1956)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Moderate
|
|
|
ADAM17
(HGNC:195)
|
congenital heart disease
(MONDO_0005453)
|
Moderate
|
|
|
HYDIN
(HGNC:19368)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
ADAM17
(HGNC:195)
|
inflammatory skin and bowel disease, neonatal, 1
(MONDO_0013693)
|
Moderate
|
|
|
CHRNA4
(HGNC:1958)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Definitive
|
|
|
CHRNA7
(HGNC:1960)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|
|
CHRNB4
(HGNC:1964)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
CHRNA7
(HGNC:1960)
|
complex neurodevelopmental disorder
(MONDO_0100038)
|
Limited
|
|
|
SCAF4
(HGNC:19304)
|
Fliedner-Zweier syndrome
(MONDO_0957787)
|
Limited
|
|
|
CHRNB2
(HGNC:1962)
|
sleep-related hypermotor epilepsy
(MONDO_0000030)
|
Moderate
|
|
|
CHRNG
(HGNC:1967)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Limited
|
|
|
CHRNE
(HGNC:1966)
|
congenital myasthenic syndrome 4C
(MONDO_0012157)
|
Strong
|
|
|
CHRND
(HGNC:1965)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Limited
|
|
|
CHRNG
(HGNC:1967)
|
autosomal recessive multiple pterygium syndrome
(MONDO_0009926)
|
Strong
|
|
|
EIF2AK4
(HGNC:19687)
|
pulmonary venoocclusive disease
(MONDO_0009937)
|
Definitive
|
|
|
EIF2AK4
(HGNC:19687)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Limited
|
|
|
NECTIN4
(HGNC:19688)
|
ectodermal dysplasia-syndactyly syndrome
(MONDO_0013311)
|
Definitive
|
|
|
NECTIN4
(HGNC:19688)
|
ectodermal dysplasia-syndactyly syndrome 1
(MONDO_0024565)
|
Strong
|
|
|
LYST
(HGNC:1968)
|
Chediak-Higashi syndrome
(MONDO_0008963)
|
Definitive
|
|
|
MECR
(HGNC:19691)
|
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
(MONDO_0015003)
|
Moderate
|
|
|
CHRNA2
(HGNC:1956)
|
sleep-related hypermotor epilepsy
(MONDO_0000030)
|
Limited
|
|
|
CNKSR2
(HGNC:19701)
|
intellectual disability, X-linked, syndromic, Houge type
(MONDO_0030909)
|
Strong
|
|
|
KCNV2
(HGNC:19698)
|
cone dystrophy with supernormal rod response
(MONDO_0012475)
|
Definitive
|
|
|
COQ4
(HGNC:19693)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
ADAMTSL4
(HGNC:19706)
|
isolated ectopia lentis
(MONDO_0015998)
|
Definitive
|
|
|
DISP1
(HGNC:19711)
|
holoprosencephaly
(MONDO_0016296)
|
Strong
|
|
|
ADAMTSL4
(HGNC:19706)
|
ectopia lentis et pupillae
(MONDO_0009153)
|
Definitive
|
|
|
DDHD1
(HGNC:19714)
|
hereditary spastic paraplegia 28
(MONDO_0012256)
|
Moderate
|
|
|
DDHD1
(HGNC:19714)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
CHST3
(HGNC:1971)
|
spondyloepiphyseal dysplasia with congenital joint dislocations
(MONDO_0007738)
|
Definitive
|
|
|
CANT1
(HGNC:19721)
|
Desbuquois dysplasia 1
(MONDO_0009629)
|
Definitive
|
|
|
TNS2
(HGNC:19737)
|
nephrotic syndrome
(MONDO_0005377)
|
Moderate
|
|
|
POMT2
(HGNC:19743)
|
autosomal recessive limb-girdle muscular dystrophy type 2N
(MONDO_0013162)
|
Strong
|
|
|
POMT2
(HGNC:19743)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
EVC2
(HGNC:19747)
|
acrofacial dysostosis, Weyers type
(MONDO_0008673)
|
Strong
|
|
|
CHUK
(HGNC:1974)
|
cocoon syndrome
(MONDO_0013334)
|
Moderate
|
|
|
TTC7A
(HGNC:19750)
|
multiple intestinal atresia
(MONDO_0009465)
|
Definitive
|
|
|
VSX2
(HGNC:1975)
|
microphthalmia
(MONDO_0021129)
|
Limited
|
|
|
ISCA2
(HGNC:19857)
|
multiple mitochondrial dysfunctions syndrome 4
(MONDO_0014611)
|
Strong
|
|
|
CIT
(HGNC:1985)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
TRAPPC4
(HGNC:19943)
|
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
(MONDO_0032894)
|
Strong
|
|
|
SLC25A22
(HGNC:19954)
|
early myoclonic encephalopathy
(MONDO_0016022)
|
Strong
|
|
|
SLC25A22
(HGNC:19954)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Strong
|
|
|
KIAA0586
(HGNC:19960)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
KIAA0586
(HGNC:19960)
|
Joubert syndrome 23
(MONDO_0014664)
|
Moderate
|
|
|
TTLL5
(HGNC:19963)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
CCDC88C
(HGNC:19967)
|
spinocerebellar ataxia type 40
(MONDO_0014475)
|
Moderate
|
|
|
RDH12
(HGNC:19977)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
RDH12
(HGNC:19977)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
CYCS
(HGNC:19986)
|
thrombocytopenia 4
(MONDO_0012775)
|
Strong
|
|
|
GREM1
(HGNC:2001)
|
hereditary mixed polyposis syndrome
(MONDO_0011023)
|
Strong
|
|
|
USP45
(HGNC:20080)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
PCSK9
(HGNC:20001)
|
homozygous familial hypercholesterolemia
(MONDO_0018328)
|
Limited
|
|
|
TTC8
(HGNC:20087)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
AK7
(HGNC:20091)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
AHNAK2
(HGNC:20125)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Limited
|
|
|
TEDC1
(HGNC:20127)
|
microcephaly
(MONDO_0001149)
|
Limited
|
|
|
GPR143
(HGNC:20145)
|
ocular albinism
(MONDO_0017304)
|
Definitive
|
|
|
SLC17A8
(HGNC:20151)
|
autosomal dominant nonsyndromic hearing loss 25
(MONDO_0011568)
|
Strong
|
|
|
CHD8
(HGNC:20153)
|
intellectual disability
(MONDO_0001071)
|
Strong
|
|
|
CHD8
(HGNC:20153)
|
autism
(MONDO_0005260)
|
Definitive
|
|
|
CHD8
(HGNC:20153)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Limited
|
|
|
CHD8
(HGNC:20153)
|
intellectual developmental disorder with autism and macrocephaly
(MONDO_0014017)
|
Definitive
|
|
|
HECTD1
(HGNC:20157)
|
neural tube defect
(MONDO_0018075)
|
Limited
|
|
|
HECTD1
(HGNC:20157)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
TMEM260
(HGNC:20185)
|
structural heart defects and renal anomalies syndrome
(MONDO_0044321)
|
Definitive
|
|
|
POLR1C
(HGNC:20194)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Moderate
|
|
|
SLC35C1
(HGNC:20197)
|
leukocyte adhesion deficiency type II
(MONDO_0009953)
|
Strong
|
|
|
CLCN1
(HGNC:2019)
|
myotonia congenita, autosomal recessive
(MONDO_0009715)
|
Moderate
|
|
|
B3GLCT
(HGNC:20207)
|
Peters plus syndrome
(MONDO_0009856)
|
Definitive
|
|
|
CLCN2
(HGNC:2020)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
CLCN4
(HGNC:2022)
|
intellectual disability, X-linked 49
(MONDO_0010250)
|
Strong
|
|
|
NUBPL
(HGNC:20278)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
TRIT1
(HGNC:20286)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
TRIT1
(HGNC:20286)
|
combined oxidative phosphorylation deficiency 35
(MONDO_0054742)
|
Definitive
|
|
|
SLITRK1
(HGNC:20297)
|
Tourette syndrome
(MONDO_0007661)
|
Disputed
|
|
|
CLDN10
(HGNC:2033)
|
HELIX syndrome
(MONDO_0060564)
|
Strong
|
|
|
VIPAS39
(HGNC:20347)
|
arthrogryposis-renal dysfunction-cholestasis syndrome
(MONDO_0017123)
|
Strong
|
|
|
CLDN1
(HGNC:2032)
|
neonatal ichthyosis-sclerosing cholangitis syndrome
(MONDO_0011874)
|
Strong
|
|
|
CLDN14
(HGNC:2035)
|
autosomal recessive nonsyndromic hearing loss 29
(MONDO_0013537)
|
Limited
|
|
|
NDUFA11
(HGNC:20371)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFB11
(HGNC:20372)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
CLDN2
(HGNC:2041)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Limited
|
|
|
CLDN19
(HGNC:2040)
|
renal hypomagnesemia 5 with ocular involvement
(MONDO_0009548)
|
Strong
|
|
|
POLR1D
(HGNC:20422)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Definitive
|
|
|
SPATA7
(HGNC:20423)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
SPATA7
(HGNC:20423)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
UPF3B
(HGNC:20439)
|
X-linked intellectual disability with marfanoid habitus
(MONDO_0010655)
|
Limited
|
|
|
POLR1B
(HGNC:20454)
|
Treacher-Collins syndrome
(MONDO_0002457)
|
Moderate
|
|
|
NME7
(HGNC:20461)
|
situs inversus
(MONDO_0010029)
|
Limited
|
|
|
BRIP1
(HGNC:20473)
|
familial ovarian cancer
(MONDO_0016248)
|
Limited
|
|
|
TRAF7
(HGNC:20456)
|
cardiac, facial, and digital anomalies with developmental delay
(MONDO_0032572)
|
Definitive
|
|
|
BRIP1
(HGNC:20473)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
BRIP1
(HGNC:20473)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
TMC8
(HGNC:20474)
|
epidermodysplasia verruciformis
(MONDO_0009176)
|
Definitive
|
|
|
COA8
(HGNC:20492)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SV2A
(HGNC:20566)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
CYP26C1
(HGNC:20577)
|
focal facial dermal dysplasia type IV
(MONDO_0013997)
|
Strong
|
|
|
CYP2U1
(HGNC:20582)
|
hereditary spastic paraplegia 56
(MONDO_0014015)
|
Strong
|
|
|
CYP2U1
(HGNC:20582)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
UFM1
(HGNC:20597)
|
hypomyelinating leukodystrophy 6
(MONDO_0012905)
|
Strong
|
|
|
DHDDS
(HGNC:20603)
|
developmental delay and seizures with or without movement abnormalities
(MONDO_0044326)
|
Limited
|
|
|
DHDDS
(HGNC:20603)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
AIMP2
(HGNC:20609)
|
leukodystrophy, hypomyelinating, 17
(MONDO_0054817)
|
Limited
|
|
|
SLC24A5
(HGNC:20611)
|
oculocutaneous albinism type 6
(MONDO_0018264)
|
Moderate
|
|
|
MICAL1
(HGNC:20619)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
CHD7
(HGNC:20626)
|
CHARGE syndrome
(MONDO_0008965)
|
Definitive
|
|
|
SLC25A26
(HGNC:20661)
|
combined oxidative phosphorylation deficiency 28
(MONDO_0014775)
|
Limited
|
|
|
PHF8
(HGNC:20672)
|
syndromic X-linked intellectual disability Siderius type
(MONDO_0010286)
|
Strong
|
|
|
SLC25A24
(HGNC:20662)
|
Fontaine progeroid syndrome
(MONDO_0012853)
|
Strong
|
|
|
TWIST2
(HGNC:20670)
|
ablepharon macrostomia syndrome
(MONDO_0008693)
|
Strong
|
|
|
WDFY3
(HGNC:20751)
|
autism spectrum disorder
(MONDO_0005258)
|
Strong
|
|
|
CLN3
(HGNC:2074)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Limited
|
|
|
SLC9A9
(HGNC:20653)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
SLC25A26
(HGNC:20661)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
PDLIM3
(HGNC:20767)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
PDLIM3
(HGNC:20767)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
ZFYVE26
(HGNC:20761)
|
hereditary spastic paraplegia 15
(MONDO_0010044)
|
Strong
|
|
|
CLN5
(HGNC:2076)
|
neuronal ceroid lipofuscinosis 5
(MONDO_0009745)
|
Definitive
|
|
|
CHD7
(HGNC:20626)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
TUBB4B
(HGNC:20771)
|
Leber congenital amaurosis with early-onset deafness
(MONDO_0060650)
|
Strong
|
|
|
TUBB3
(HGNC:20772)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Moderate
|
|
|
TUBB4A
(HGNC:20774)
|
torsion dystonia 4
(MONDO_0007493)
|
Limited
|
|
|
TUBB3
(HGNC:20772)
|
complex cortical dysplasia with other brain malformations 1
(MONDO_0013541)
|
Definitive
|
|
|
TUBB
(HGNC:20778)
|
multiple benign circumferential skin creases on limbs
(MONDO_0007990)
|
Moderate
|
|
|
TPP1
(HGNC:2073)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
CHD7
(HGNC:20626)
|
Kallmann syndrome
(MONDO_0018800)
|
Strong
|
|
|
TXNDC15
(HGNC:20652)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
FANCL
(HGNC:20748)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
CLN6
(HGNC:2077)
|
ceroid lipofuscinosis, neuronal, 6A
(MONDO_0011144)
|
Strong
|
|
|
RHBDF2
(HGNC:20788)
|
palmoplantar keratoderma-esophageal carcinoma syndrome
(MONDO_0007856)
|
Strong
|
|
|
CYBRD1
(HGNC:20797)
|
hereditary hemochromatosis
(MONDO_0006507)
|
Limited
|
|
|
CLN8
(HGNC:2079)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
CLN8
(HGNC:2079)
|
neuronal ceroid lipofuscinosis 8
(MONDO_0010830)
|
Moderate
|
|
|
CLN8
(HGNC:2079)
|
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
(MONDO_0012391)
|
Strong
|
|
|
CLN8
(HGNC:2079)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Strong
|
|
|
SLC35D1
(HGNC:20800)
|
schneckenbecken dysplasia
(MONDO_0010013)
|
Definitive
|
|
|
TPCN2
(HGNC:20820)
|
albinism
(MONDO_0043209)
|
Moderate
|
|
|
CLPP
(HGNC:2084)
|
Perrault syndrome 3
(MONDO_0013588)
|
Strong
|
|
|
SLC39A14
(HGNC:20858)
|
hypermanganesemia with dystonia 2
(MONDO_0014864)
|
Limited
|
|
|
THAP1
(HGNC:20856)
|
torsion dystonia 6
(MONDO_0011264)
|
Definitive
|
|
|
SLC39A8
(HGNC:20862)
|
SLC39A8-CDG
(MONDO_0014746)
|
Definitive
|
|
|
PLEKHG1
(HGNC:20884)
|
periventricular leukomalacia
(MONDO_0015742)
|
Limited
|
|
|
BMP10
(HGNC:20869)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
GTDC1
(HGNC:20887)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
BCOR
(HGNC:20893)
|
microphthalmia, syndromic 2
(MONDO_0010261)
|
Definitive
|
|
|
POLD3
(HGNC:20932)
|
hearing loss disorder
(MONDO_0005365)
|
Moderate
|
|
|
SMYD1
(HGNC:20986)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
PHACTR1
(HGNC:20990)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
PHACTR1
(HGNC:20990)
|
developmental and epileptic encephalopathy, 70
(MONDO_0032663)
|
Moderate
|
|
|
ALPK1
(HGNC:20917)
|
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
(MONDO_0013999)
|
Strong
|
|
|
ANTXR1
(HGNC:21014)
|
GAPO syndrome
(MONDO_0009263)
|
Strong
|
|
|
AARS2
(HGNC:21022)
|
combined oxidative phosphorylation defect type 8
(MONDO_0013570)
|
Strong
|
|
|
AARS2
(HGNC:21022)
|
mitochondrial disease
(MONDO_0044970)
|
Definitive
|
|
|
HACE1
(HGNC:21033)
|
spastic paraplegia-severe developmental delay-epilepsy syndrome
(MONDO_0014764)
|
Strong
|
|
|
NDUFAF4
(HGNC:21034)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
PITPNM3
(HGNC:21043)
|
cone-rod dystrophy 5
(MONDO_0010969)
|
Limited
|
|
|
PITPNM3
(HGNC:21043)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
ERMARD
(HGNC:21056)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Limited
|
|
|
RSPH9
(HGNC:21057)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
SERAC1
(HGNC:21061)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
FARS2
(HGNC:21062)
|
hereditary spastic paraplegia 77
(MONDO_0014882)
|
Moderate
|
|
|
FARS2
(HGNC:21062)
|
combined oxidative phosphorylation defect type 14
(MONDO_0013986)
|
Strong
|
|
|
IYD
(HGNC:21071)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Limited
|
|
|
MIB1
(HGNC:21086)
|
left ventricular noncompaction
(MONDO_0018901)
|
Strong
|
|
|
ZBTB24
(HGNC:21143)
|
immunodeficiency-centromeric instability-facial anomalies syndrome
(MONDO_0000133)
|
Strong
|
|
|
DSE
(HGNC:21144)
|
Ehlers-Danlos syndrome, musculocontractural type
(MONDO_0011142)
|
Strong
|
|
|
ZBTB24
(HGNC:21143)
|
immunodeficiency-centromeric instability-facial anomalies syndrome 2
(MONDO_0013553)
|
Strong
|
|
|
RMND1
(HGNC:21176)
|
combined oxidative phosphorylation defect type 11
(MONDO_0013969)
|
Definitive
|
|
|
RMND1
(HGNC:21176)
|
mitochondrial disease
(MONDO_0044970)
|
Definitive
|
|
|
FA2H
(HGNC:21197)
|
hereditary spastic paraplegia 35
(MONDO_0012866)
|
Strong
|
|
|
WDR26
(HGNC:21208)
|
Skraban-Deardorff syndrome
(MONDO_0054636)
|
Strong
|
|
|
LEMD2
(HGNC:21244)
|
Marbach-Rustad progeroid syndrome
(MONDO_0859147)
|
Limited
|
|
|
LHFPL5
(HGNC:21253)
|
autosomal recessive nonsyndromic hearing loss 67
(MONDO_0012460)
|
Definitive
|
|
|
DSG4
(HGNC:21307)
|
monilethrix
(MONDO_0008009)
|
Strong
|
|
|
ELOVL5
(HGNC:21308)
|
spinocerebellar ataxia type 38
(MONDO_0014417)
|
Definitive
|
|
|
DYM
(HGNC:21317)
|
Smith-McCort dysplasia
(MONDO_0015799)
|
Limited
|
|
|
PDHX
(HGNC:21350)
|
pyruvate dehydrogenase E3-binding protein deficiency
(MONDO_0009503)
|
Strong
|
|
|
TDRD6
(HGNC:21339)
|
oligospermia
(MONDO_0001913)
|
Strong
|
|
|
PDHX
(HGNC:21350)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
SBF2
(HGNC:2135)
|
Charcot-Marie-Tooth disease type 4B2
(MONDO_0011475)
|
Moderate
|
|
|
RIPPLY2
(HGNC:21390)
|
spondylocostal dysostosis 6, autosomal recessive
(MONDO_0014694)
|
Moderate
|
|
|
RARS2
(HGNC:21406)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
IFT74
(HGNC:21424)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
INPP5E
(HGNC:21474)
|
Joubert syndrome
(MONDO_0018772)
|
Definitive
|
|
|
RFX6
(HGNC:21478)
|
Martinez-Frias syndrome
(MONDO_0011042)
|
Strong
|
|
|
DNAAF4
(HGNC:21493)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
KIF12
(HGNC:21495)
|
cholestasis
(MONDO_0001751)
|
Strong
|
|
|
ACAD9
(HGNC:21497)
|
acyl-CoA dehydrogenase 9 deficiency
(MONDO_0012624)
|
Strong
|
|
|
CNGA3
(HGNC:2150)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
CNGA3
(HGNC:2150)
|
achromatopsia
(MONDO_0018852)
|
Definitive
|
|
|
CNGB1
(HGNC:2151)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
CNGB3
(HGNC:2153)
|
cone dystrophy
(MONDO_0000455)
|
Strong
|
|
|
CNGB3
(HGNC:2153)
|
achromatopsia
(MONDO_0018852)
|
Definitive
|
|
|
EYS
(HGNC:21555)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
RSPH4A
(HGNC:21558)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CEP85L
(HGNC:21638)
|
lissencephaly 10
(MONDO_0030031)
|
Limited
|
|
|
MPC1
(HGNC:21606)
|
mitochondrial pyruvate carrier deficiency
(MONDO_0013877)
|
Strong
|
|
|
SATB2
(HGNC:21637)
|
chromosome 2q32-q33 deletion syndrome
(MONDO_0012864)
|
Moderate
|
|
|
TOPORS
(HGNC:21653)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Limited
|
|
|
TOPORS
(HGNC:21653)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
RSPO1
(HGNC:21679)
|
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
(MONDO_0012530)
|
Moderate
|
|
|
RNASET2
(HGNC:21686)
|
cystic leukoencephalopathy without megalencephaly
(MONDO_0013058)
|
Strong
|
|
|
CERKL
(HGNC:21699)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
ADAM9
(HGNC:216)
|
cone-rod dystrophy
(MONDO_0015993)
|
Limited
|
|
|
BRAT1
(HGNC:21701)
|
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
(MONDO_0020841)
|
Strong
|
|
|
CCM2
(HGNC:21708)
|
famililal cerebral cavernous malformations
(MONDO_0031037)
|
Strong
|
|
|
LHX4
(HGNC:21734)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Moderate
|
|
|
CNTN4
(HGNC:2174)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
CNTN6
(HGNC:2176)
|
Tourette syndrome
(MONDO_0007661)
|
Moderate
|
|
|
COCH
(HGNC:2180)
|
autosomal dominant nonsyndromic hearing loss 9
(MONDO_0011058)
|
Definitive
|
|
|
COCH
(HGNC:2180)
|
nonsyndromic genetic hearing loss
(MONDO_0019497)
|
Strong
|
|
|
DYNC2I1
(HGNC:21862)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
COCH
(HGNC:2180)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
COL11A1
(HGNC:2186)
|
Marshall syndrome
(MONDO_0007949)
|
Strong
|
|
|
COL11A1
(HGNC:2186)
|
fibrochondrogenesis 1
(MONDO_0009226)
|
Limited
|
|
|
COL11A1
(HGNC:2186)
|
Stickler syndrome type 2
(MONDO_0011493)
|
Definitive
|
|
|
COL11A1
(HGNC:2186)
|
fibrochondrogenesis
(MONDO_0016068)
|
Moderate
|
|
|
RINT1
(HGNC:21876)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
COL11A2
(HGNC:2187)
|
fibrochondrogenesis
(MONDO_0016068)
|
Limited
|
|
|
RINT1
(HGNC:21876)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Refuted
|
|
|
IFT56
(HGNC:21882)
|
biliary, renal, neurologic, and skeletal syndrome
(MONDO_0859191)
|
Limited
|
|
|
COL12A1
(HGNC:2188)
|
Bethlem myopathy
(MONDO_0008029)
|
Strong
|
|
|
COL12A1
(HGNC:2188)
|
Ullrich congenital muscular dystrophy
(MONDO_0000355)
|
Limited
|
|
|
COL12A1
(HGNC:2188)
|
Bethlem myopathy 2
(MONDO_0034022)
|
Strong
|
|
|
ADAMTS2
(HGNC:218)
|
Ehlers-Danlos syndrome, dermatosparaxis type
(MONDO_0009161)
|
Strong
|
|
|
COL17A1
(HGNC:2194)
|
epithelial recurrent erosion dystrophy
(MONDO_0007381)
|
Strong
|
|
|
COL17A1
(HGNC:2194)
|
amelogenesis imperfecta
(MONDO_0019507)
|
Strong
|
|
|
COL1A2
(HGNC:2198)
|
osteogenesis imperfecta type 4
(MONDO_0008148)
|
Moderate
|
|
|
COL1A2
(HGNC:2198)
|
osteogenesis imperfecta
(MONDO_0019019)
|
Definitive
|
|
|
ADAMTS3
(HGNC:219)
|
Hennekam syndrome
(MONDO_0016256)
|
Limited
|
|
|
COL1A1
(HGNC:2197)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Definitive
|
|
|
COL1A1
(HGNC:2197)
|
osteogenesis imperfecta type 1
(MONDO_0008146)
|
Definitive
|
|
|
ADAMTS3
(HGNC:219)
|
hennekam lymphangiectasia-lymphedema syndrome 3
(MONDO_0032564)
|
Limited
|
|
|
COL2A1
(HGNC:2200)
|
Stickler syndrome type 1
(MONDO_0007160)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
Legg-Calve-Perthes disease
(MONDO_0007885)
|
Disputed
|
|
|
COL2A1
(HGNC:2200)
|
platyspondylic dysplasia, Torrance type
(MONDO_0007895)
|
Moderate
|
|
|
COL2A1
(HGNC:2200)
|
Kniest dysplasia
(MONDO_0007987)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
spondyloepiphyseal dysplasia congenita
(MONDO_0008471)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
spondylometaphyseal dysplasia, Schmidt type
(MONDO_0008478)
|
Limited
|
|
|
COL2A1
(HGNC:2200)
|
achondrogenesis type II
(MONDO_0008702)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
spondyloepiphyseal dysplasia with metatarsal shortening
(MONDO_0012206)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
(MONDO_0011496)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
spondyloperipheral dysplasia
(MONDO_0010078)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
osteogenesis imperfecta type 2
(MONDO_0008147)
|
Moderate
|
|
|
KCTD7
(HGNC:21957)
|
progressive myoclonic epilepsy type 3
(MONDO_0012721)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
osteogenesis imperfecta type 4
(MONDO_0008148)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
Caffey disease
(MONDO_0007244)
|
Definitive
|
|
|
KCTD7
(HGNC:21957)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Definitive
|
|
|
COL18A1
(HGNC:2195)
|
Knobloch syndrome 1
(MONDO_0800167)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
otospondylomegaepiphyseal dysplasia, autosomal recessive
(MONDO_0044206)
|
Limited
|
|
|
COL2A1
(HGNC:2200)
|
spondylometaphyseal dysplasia
(MONDO_0016763)
|
Refuted
|
|
|
COL1A2
(HGNC:2198)
|
osteogenesis imperfecta type 1
(MONDO_0008146)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
autosomal dominant rhegmatogenous retinal detachment
(MONDO_0016202)
|
Moderate
|
|
|
COL4A1
(HGNC:2202)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Limited
|
|
|
COL3A1
(HGNC:2201)
|
Ehlers-Danlos syndrome, vascular type
(MONDO_0017314)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
avascular necrosis of femoral head, primary, 1
(MONDO_0054550)
|
Strong
|
|
|
COL4A1
(HGNC:2202)
|
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
(MONDO_0012726)
|
Strong
|
|
|
COL1A2
(HGNC:2198)
|
osteogenesis imperfecta type 2
(MONDO_0008147)
|
Moderate
|
|
|
COL4A1
(HGNC:2202)
|
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
(MONDO_0032814)
|
Strong
|
|
|
COL4A1
(HGNC:2202)
|
familial porencephaly
(MONDO_0020496)
|
Definitive
|
|
|
COL4A2
(HGNC:2203)
|
familial porencephaly
(MONDO_0020496)
|
Strong
|
|
|
COL4A3
(HGNC:2204)
|
autosomal dominant Alport syndrome
(MONDO_0007086)
|
Definitive
|
|
|
COL4A3
(HGNC:2204)
|
autosomal recessive Alport syndrome
(MONDO_0008762)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
dysspondyloenchondromatosis
(MONDO_0019412)
|
Moderate
|
|
|
COL2A1
(HGNC:2200)
|
hypochondrogenesis
(MONDO_0019669)
|
Limited
|
|
|
COL4A3
(HGNC:2204)
|
Alport syndrome
(MONDO_0018965)
|
Definitive
|
|
|
COL4A4
(HGNC:2206)
|
autosomal dominant Alport syndrome
(MONDO_0007086)
|
Strong
|
|
|
COL4A4
(HGNC:2206)
|
autosomal recessive Alport syndrome
(MONDO_0008762)
|
Strong
|
|
|
COL4A4
(HGNC:2206)
|
Alport syndrome
(MONDO_0018965)
|
Strong
|
|
|
COL4A5
(HGNC:2207)
|
Alport syndrome
(MONDO_0018965)
|
Definitive
|
|
|
COL4A5
(HGNC:2207)
|
X-linked Alport syndrome
(MONDO_0010520)
|
Definitive
|
|
|
COL4A6
(HGNC:2208)
|
X-linked nonsyndromic hearing loss
(MONDO_0019586)
|
Limited
|
|
|
COL5A2
(HGNC:2210)
|
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
|
Definitive
|
|
|
COL5A2
(HGNC:2210)
|
Ehlers-Danlos syndrome
(MONDO_0020066)
|
Strong
|
|
|
COL6A2
(HGNC:2212)
|
Ullrich congenital muscular dystrophy 1A
(MONDO_0009681)
|
Strong
|
|
|
COL7A1
(HGNC:2214)
|
transient bullous dermolysis of the newborn
(MONDO_0007548)
|
Strong
|
|
|
COL7A1
(HGNC:2214)
|
recessive dystrophic epidermolysis bullosa
(MONDO_0009179)
|
Definitive
|
|
|
COL7A1
(HGNC:2214)
|
dystrophic epidermolysis bullosa pruriginosa
(MONDO_0011398)
|
Strong
|
|
|
COL7A1
(HGNC:2214)
|
dystrophic epidermolysis bullosa, nails only
(MONDO_0015553)
|
Limited
|
|
|
COL7A1
(HGNC:2214)
|
recessive dystrophic epidermolysis bullosa inversa
(MONDO_0019310)
|
Moderate
|
|
|
COL8A2
(HGNC:2216)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Definitive
|
|
|
COL8A2
(HGNC:2216)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Disputed
|
|
|
COL9A1
(HGNC:2217)
|
Stickler syndrome
(MONDO_0019354)
|
Strong
|
|
|
COL9A2
(HGNC:2218)
|
Stickler syndrome
(MONDO_0019354)
|
Strong
|
|
|
AP5Z1
(HGNC:22197)
|
hereditary spastic paraplegia 48
(MONDO_0013342)
|
Limited
|
|
|
COL9A3
(HGNC:2219)
|
Stickler syndrome
(MONDO_0019354)
|
Strong
|
|
|
COL7A1
(HGNC:2214)
|
pretibial dystrophic epidermolysis bullosa
(MONDO_0007552)
|
Moderate
|
|
|
COLEC10
(HGNC:2220)
|
3MC syndrome
(MONDO_0017398)
|
Strong
|
|
|
COLEC10
(HGNC:2220)
|
3MC syndrome 3
(MONDO_0009554)
|
Strong
|
|
|
KIAA1549
(HGNC:22219)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
COMP
(HGNC:2227)
|
multiple epiphyseal dysplasia type 1
(MONDO_0007561)
|
Moderate
|
|
|
CORO1A
(HGNC:2252)
|
severe combined immunodeficiency due to CORO1A deficiency
(MONDO_0014168)
|
Strong
|
|
|
COX10
(HGNC:2260)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
COX10
(HGNC:2260)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Strong
|
|
|
COX10
(HGNC:2260)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
COX15
(HGNC:2263)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
COX5A
(HGNC:2267)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
COX4I1
(HGNC:2265)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
GMPPA
(HGNC:22923)
|
alacrima, achalasia, and intellectual disability syndrome
(MONDO_0014219)
|
Strong
|
|
|
GMPPA
(HGNC:22923)
|
triple-A syndrome
(MONDO_0009279)
|
Refuted
|
|
|
GMPPB
(HGNC:22932)
|
autosomal recessive limb-girdle muscular dystrophy type 2T
(MONDO_0014142)
|
Strong
|
|
|
COX8A
(HGNC:2294)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
POGLUT1
(HGNC:22954)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
MED13L
(HGNC:22962)
|
syndromic intellectual disability
(MONDO_0000508)
|
Strong
|
|
|
POGLUT1
(HGNC:22954)
|
autosomal recessive limb-girdle muscular dystrophy type 2R1
(MONDO_0014977)
|
Strong
|
|
|
MED13L
(HGNC:22962)
|
congenital heart disease
(MONDO_0005453)
|
Strong
|
|
|
PEX26
(HGNC:22965)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
CPA1
(HGNC:2296)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Moderate
|
|
|
FAM20B
(HGNC:23017)
|
Desbuquois dysplasia
(MONDO_0015426)
|
Limited
|
|
|
FAM20A
(HGNC:23015)
|
amelogenesis imperfecta type 1G
(MONDO_0008771)
|
Definitive
|
|
|
COL27A1
(HGNC:22986)
|
Steel syndrome
(MONDO_0014061)
|
Definitive
|
|
|
GMPPB
(HGNC:22932)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Definitive
|
|
|
NLRP7
(HGNC:22947)
|
complete hydatidiform mole
(MONDO_0016785)
|
Definitive
|
|
|
CPE
(HGNC:2303)
|
BDV syndrome
(MONDO_0859150)
|
Strong
|
|
|
PDSS2
(HGNC:23041)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
LMBRD1
(HGNC:23038)
|
methylmalonic aciduria and homocystinuria type cblF
(MONDO_0010183)
|
Strong
|
|
|
SLC10A7
(HGNC:23088)
|
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
(MONDO_0032703)
|
Definitive
|
|
|
SLC13A5
(HGNC:23089)
|
amelocerebrohypohidrotic syndrome
(MONDO_0009185)
|
Strong
|
|
|
SLC29A3
(HGNC:23096)
|
dysosteosclerosis
(MONDO_0009138)
|
Limited
|
|
|
FAT4
(HGNC:23109)
|
Hennekam syndrome
(MONDO_0016256)
|
Strong
|
|
|
SLC13A5
(HGNC:23089)
|
developmental and epileptic encephalopathy, 25
(MONDO_0014392)
|
Strong
|
|
|
CPN1
(HGNC:2312)
|
carboxypeptidase N deficiency
(MONDO_0008910)
|
Limited
|
|
|
UNC13D
(HGNC:23147)
|
familial hemophagocytic lymphohistiocytosis 3
(MONDO_0012146)
|
Definitive
|
|
|
FAT4
(HGNC:23109)
|
van Maldergem syndrome
(MONDO_0017813)
|
Strong
|
|
|
ALG2
(HGNC:23159)
|
ALG2-congenital disorder of glycosylation
(MONDO_0011933)
|
Strong
|
|
|
ALG8
(HGNC:23161)
|
ALG8-congenital disorder of glycosylation
(MONDO_0011969)
|
Strong
|
|
|
PNPT1
(HGNC:23166)
|
hearing loss disorder
(MONDO_0005365)
|
Moderate
|
|
|
PNPT1
(HGNC:23166)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
PNPT1
(HGNC:23166)
|
spinocerebellar ataxia type 25
(MONDO_0012103)
|
Limited
|
|
|
PNPT1
(HGNC:23166)
|
combined oxidative phosphorylation defect type 13
(MONDO_0013977)
|
Limited
|
|
|
FANCM
(HGNC:23168)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
FANCM
(HGNC:23168)
|
Fanconi anemia
(MONDO_0019391)
|
Limited
|
|
|
PIGW
(HGNC:23213)
|
hyperphosphatasia with intellectual disability syndrome 5
(MONDO_0014457)
|
Strong
|
|
|
PIGO
(HGNC:23215)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Moderate
|
|
|
CPOX
(HGNC:2321)
|
harderoporphyria
(MONDO_0030048)
|
Strong
|
|
|
SPATA13
(HGNC:23222)
|
primary angle-closure glaucoma
(MONDO_0001868)
|
Moderate
|
|
|
MYPN
(HGNC:23246)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
UBA5
(HGNC:23230)
|
developmental and epileptic encephalopathy, 44
(MONDO_0014933)
|
Definitive
|
|
|
MYPN
(HGNC:23246)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
MYPN
(HGNC:23246)
|
cap myopathy
(MONDO_0015753)
|
Moderate
|
|
|
ETHE1
(HGNC:23287)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
HKDC1
(HGNC:23302)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
A2ML1
(HGNC:23336)
|
Noonan syndrome
(MONDO_0018997)
|
Disputed
|
|
|
PXK
(HGNC:23326)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Disputed
|
|
|
CR2
(HGNC:2336)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
CR2
(HGNC:2336)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
FREM1
(HGNC:23399)
|
oculotrichoanal syndrome
(MONDO_0009560)
|
Strong
|
|
|
FREM1
(HGNC:23399)
|
BNAR syndrome
(MONDO_0012165)
|
Moderate
|
|
|
LRMDA
(HGNC:23405)
|
oculocutaneous albinism type 7
(MONDO_0014070)
|
Moderate
|
|
|
DOLK
(HGNC:23406)
|
DK1-congenital disorder of glycosylation
(MONDO_0012556)
|
Moderate
|
|
|
CRADD
(HGNC:2340)
|
intellectual disability, autosomal recessive 34
(MONDO_0013785)
|
Strong
|
|
|
CRB1
(HGNC:2343)
|
nanophthalmia
(MONDO_0005514)
|
Limited
|
|
|
CRB1
(HGNC:2343)
|
Leber congenital amaurosis 8
(MONDO_0013453)
|
Limited
|
|
|
CRB1
(HGNC:2343)
|
pigmented paravenous retinochoroidal atrophy
(MONDO_0008246)
|
Limited
|
|
|
CRB1
(HGNC:2343)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
CRB1
(HGNC:2343)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
DOCK11
(HGNC:23483)
|
autoinflammatory disease, multisystem, with immune dysregulation, X-linked
(MONDO_0957494)
|
Strong
|
|
|
CREBBP
(HGNC:2348)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
(MONDO_0008393)
|
Strong
|
|
|
CREBBP
(HGNC:2348)
|
Rubinstein-Taybi syndrome
(MONDO_0019188)
|
Definitive
|
|
|
CRH
(HGNC:2355)
|
autosomal dominant nocturnal frontal lobe epilepsy
(MONDO_0020300)
|
Limited
|
|
|
DHTKD1
(HGNC:23537)
|
2-aminoadipic 2-oxoadipic aciduria
(MONDO_0008774)
|
Strong
|
|
|
MORC2
(HGNC:23573)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
ANKRD17
(HGNC:23575)
|
Chopra-Amiel-Gordon syndrome
(MONDO_0859186)
|
Strong
|
|
|
VPS13D
(HGNC:23595)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
VPS13D
(HGNC:23595)
|
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
(MONDO_0011811)
|
Strong
|
|
|
VPS13C
(HGNC:23594)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Moderate
|
|
|
SKIC3
(HGNC:23639)
|
trichohepatoenteric syndrome
(MONDO_0009105)
|
Definitive
|
|
|
CRKL
(HGNC:2363)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
CRLF1
(HGNC:2364)
|
Cold-induced sweating syndrome 1
(MONDO_0010091)
|
Definitive
|
|
|
CRLF1
(HGNC:2364)
|
cold-induced sweating syndrome
(MONDO_0015526)
|
Strong
|
|
|
GNE
(HGNC:23657)
|
sialuria
(MONDO_0010028)
|
Limited
|
|
|
GPR161
(HGNC:23694)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
ADCY5
(HGNC:236)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
TTC12
(HGNC:23700)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
PGAP3
(HGNC:23719)
|
hyperphosphatasia with intellectual disability syndrome 4
(MONDO_0014318)
|
Strong
|
|
|
PTF1A
(HGNC:23734)
|
pancreatic agenesis
(MONDO_0009832)
|
Strong
|
|
|
PGAP3
(HGNC:23719)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
PTF1A
(HGNC:23734)
|
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
(MONDO_0012192)
|
Moderate
|
|
|
PTF1A
(HGNC:23734)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Moderate
|
|
|
MED27
(HGNC:2377)
|
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
(MONDO_0859137)
|
Limited
|
|
|
PIKFYVE
(HGNC:23785)
|
fleck corneal dystrophy
(MONDO_0007376)
|
Limited
|
|
|
CRTAP
(HGNC:2379)
|
osteogenesis imperfecta type 3
(MONDO_0009804)
|
Moderate
|
|
|
PACS2
(HGNC:23794)
|
developmental and epileptic encephalopathy, 66
(MONDO_0054845)
|
Strong
|
|
|
CRTAP
(HGNC:2379)
|
osteogenesis imperfecta type 7
(MONDO_0012536)
|
Limited
|
|
|
ADCY6
(HGNC:237)
|
lethal congenital contracture syndrome 8
(MONDO_0014570)
|
Strong
|
|
|
CRX
(HGNC:2383)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ASXL2
(HGNC:23805)
|
Shashi-Pena syndrome
(MONDO_0014963)
|
Strong
|
|
|
SLX4
(HGNC:23845)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
CRYAB
(HGNC:2389)
|
fatal infantile hypertonic myofibrillar myopathy
(MONDO_0013472)
|
Limited
|
|
|
SLX4
(HGNC:23845)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
ABAT
(HGNC:23)
|
GABA aminotransaminase deficiency
(MONDO_0013166)
|
Moderate
|
|
|
APPL1
(HGNC:24035)
|
maturity-onset diabetes of the young type 14
(MONDO_0014674)
|
Limited
|
|
|
APPL1
(HGNC:24035)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
CLMP
(HGNC:24039)
|
congenital short bowel syndrome
(MONDO_0014097)
|
Strong
|
|
|
ADIPOR1
(HGNC:24040)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
KNL1
(HGNC:24054)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Definitive
|
|
|
GALM
(HGNC:24063)
|
galactosemia 4
(MONDO_0030105)
|
Definitive
|
|
|
SORBS2
(HGNC:24098)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
RNASEH2C
(HGNC:24116)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
B9D1
(HGNC:24123)
|
Joubert syndrome
(MONDO_0018772)
|
Limited
|
|
|
B9D1
(HGNC:24123)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
PHF21A
(HGNC:24156)
|
intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
(MONDO_0032883)
|
Strong
|
|
|
BRCC3
(HGNC:24185)
|
Moyamoya disease
(MONDO_0016820)
|
Moderate
|
|
|
FAM111B
(HGNC:24200)
|
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
(MONDO_0014310)
|
Strong
|
|
|
CISD2
(HGNC:24212)
|
Wolfram syndrome 2
(MONDO_0011502)
|
Strong
|
|
|
CISD2
(HGNC:24212)
|
Wolfram syndrome
(MONDO_0018105)
|
Strong
|
|
|
GLYCTK
(HGNC:24247)
|
D-glyceric aciduria
(MONDO_0009070)
|
Strong
|
|
|
YARS2
(HGNC:24249)
|
myopathy, lactic acidosis, and sideroblastic anemia
(MONDO_0000863)
|
Definitive
|
|
|
YARS2
(HGNC:24249)
|
myopathy, lactic acidosis, and sideroblastic anemia 2
(MONDO_0013307)
|
Definitive
|
|
|
ASCC1
(HGNC:24268)
|
spinal muscular atrophy with congenital bone fractures 2
(MONDO_0014807)
|
Moderate
|
|
|
PTRH2
(HGNC:24265)
|
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1
(MONDO_8000012)
|
Strong
|
|
|
CARTPT
(HGNC:24323)
|
inherited obesity
(MONDO_0019182)
|
Limited
|
|
|
OTUD6B
(HGNC:24281)
|
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
(MONDO_0044319)
|
Strong
|
|
|
CSF1R
(HGNC:2433)
|
brain abnormalities, neurodegeneration, and dysosteosclerosis
(MONDO_0032772)
|
Moderate
|
|
|
CSF2RB
(HGNC:2436)
|
hereditary pulmonary alveolar proteinosis
(MONDO_0012580)
|
Limited
|
|
|
CSF2RA
(HGNC:2435)
|
hereditary pulmonary alveolar proteinosis
(MONDO_0012580)
|
Limited
|
|
|
CSF3R
(HGNC:2439)
|
hereditary neutrophilia
(MONDO_0008092)
|
Limited
|
|
|
DMGDH
(HGNC:24475)
|
dimethylglycine dehydrogenase deficiency
(MONDO_0011610)
|
Limited
|
|
|
BOLA3
(HGNC:24415)
|
multiple mitochondrial dysfunctions syndrome 2
(MONDO_0013675)
|
Strong
|
|
|
MMACHC
(HGNC:24525)
|
methylmalonic aciduria and homocystinuria type cblC
(MONDO_0010184)
|
Definitive
|
|
|
TCTN3
(HGNC:24519)
|
orofaciodigital syndrome IV
(MONDO_0009794)
|
Limited
|
|
|
ATL3
(HGNC:24526)
|
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
|
Strong
|
|
|
WDR62
(HGNC:24502)
|
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
(MONDO_0011435)
|
Definitive
|
|
|
TCTN3
(HGNC:24519)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
CHMP2B
(HGNC:24537)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
CHMP2B
(HGNC:24537)
|
frontotemporal dementia and/or amyotrophic lateral sclerosis 7
(MONDO_0010936)
|
Definitive
|
|
|
C2CD3
(HGNC:24564)
|
orofaciodigital syndrome type 14
(MONDO_0014413)
|
Strong
|
|
|
KANSL1
(HGNC:24565)
|
Koolen-de Vries syndrome
(MONDO_0012496)
|
Definitive
|
|
|
CDT1 Gene
(HGNC:24576)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
DYNC2LI1
(HGNC:24595)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Strong
|
|
|
HYCC1
(HGNC:24587)
|
hypomyelinating leukodystrophy 5
(MONDO_0012514)
|
Definitive
|
|
|
CSNK2B
(HGNC:2460)
|
Poirier-Bienvenu neurodevelopmental syndrome
(MONDO_0032889)
|
Definitive
|
|
|
ANKS1B
(HGNC:24600)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
DYNC2LI1
(HGNC:24595)
|
short-rib thoracic dysplasia 15 with polydactyly
(MONDO_0014907)
|
Strong
|
|
|
CFHR5
(HGNC:24668)
|
C3 glomerulonephritis
(MONDO_0013892)
|
Limited
|
|
|
SMC3
(HGNC:2468)
|
Cornelia de Lange syndrome
(MONDO_0016033)
|
Strong
|
|
|
EPS15L1
(HGNC:24634)
|
split hand-foot malformation
(MONDO_0016576)
|
Limited
|
|
|
NRROS
(HGNC:24613)
|
seizures, early-onset, with neurodegeneration and brain calcifications
(MONDO_0030033)
|
Moderate
|
|
|
CSRP3
(HGNC:2472)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
SIL1
(HGNC:24624)
|
Marinesco-Sjogren syndrome
(MONDO_0009567)
|
Definitive
|
|
|
VPS35L
(HGNC:24641)
|
Ritscher-Schinzel syndrome
(MONDO_0019078)
|
Moderate
|
|
|
EHMT1
(HGNC:24650)
|
Kleefstra syndrome 1
(MONDO_0027407)
|
Definitive
|
|
|
QRICH1
(HGNC:24713)
|
Ververi-Brady syndrome
(MONDO_0060707)
|
Strong
|
|
|
FAM111A
(HGNC:24725)
|
autosomal dominant Kenny-Caffey syndrome
(MONDO_0007478)
|
Definitive
|
|
|
CSRP3
(HGNC:2472)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
NHLRC2
(HGNC:24731)
|
fibrosis, neurodegeneration, and cerebral angiomatosis
(MONDO_0032651)
|
Strong
|
|
|
FAM111A
(HGNC:24725)
|
osteocraniostenosis
(MONDO_0011215)
|
Strong
|
|
|
CST3
(HGNC:2475)
|
ACys amyloidosis
(MONDO_0007098)
|
Strong
|
|
|
LRIT3
(HGNC:24783)
|
congenital stationary night blindness
(MONDO_0016293)
|
Limited
|
|
|
ZNF699
(HGNC:24750)
|
DEGCAGS syndrome
(MONDO_0859181)
|
Limited
|
|
|
CSTA
(HGNC:2481)
|
acral peeling skin syndrome
(MONDO_0012345)
|
Moderate
|
|
|
CSTA
(HGNC:2481)
|
exfoliative ichthyosis
(MONDO_0017339)
|
Limited
|
|
|
GAS2L2
(HGNC:24846)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
MFF
(HGNC:24858)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
MFF
(HGNC:24858)
|
encephalopathy due to defective mitochondrial and peroxisomal fission 2
(MONDO_0014905)
|
Limited
|
|
|
MOGS
(HGNC:24862)
|
MOGS-congenital disorder of glycosylation
(MONDO_0011629)
|
Strong
|
|
|
NKX2-5
(HGNC:2488)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
NKX2-5
(HGNC:2488)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
ZC4H2
(HGNC:24931)
|
Wieacker-Wolff syndrome, female-restricted
(MONDO_0026762)
|
Limited
|
|
|
CTBP1
(HGNC:2494)
|
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
(MONDO_0060666)
|
Strong
|
|
|
NPRL2
(HGNC:24969)
|
familial focal epilepsy with variable foci
(MONDO_0020310)
|
Limited
|
|
|
NPRL2
(HGNC:24969)
|
focal epilepsy
(MONDO_0005384)
|
Strong
|
|
|
COA3
(HGNC:24990)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
CCN2
(HGNC:2500)
|
kyphomelic dysplasia
(MONDO_0008881)
|
Strong
|
|
|
CCN2
(HGNC:2500)
|
spondyloepimetaphyseal dysplasia
(MONDO_0100510)
|
Strong
|
|
|
TMEM216
(HGNC:25018)
|
Joubert syndrome 2
(MONDO_0011963)
|
Strong
|
|
|
TMEM216
(HGNC:25018)
|
Meckel syndrome
(MONDO_0018921)
|
Strong
|
|
|
CTLA4
(HGNC:2505)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
ACD
(HGNC:25070)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Limited
|
|
|
CTLA4
(HGNC:2505)
|
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
(MONDO_0014493)
|
Definitive
|
|
|
BOD1
(HGNC:25114)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
CTNNA3
(HGNC:2511)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
MTSS2
(HGNC:25094)
|
intellectual developmental disorder with ocular anomalies and distinctive facial features
(MONDO_0859303)
|
Strong
|
|
|
MARS2
(HGNC:25133)
|
spastic ataxia 3
(MONDO_0012664)
|
Limited
|
|
|
MARS2
(HGNC:25133)
|
combined oxidative phosphorylation defect type 25
(MONDO_0014636)
|
Limited
|
|
|
PKDCC
(HGNC:25123)
|
rhizomelic limb shortening with dysmorphic features
(MONDO_0032935)
|
Limited
|
|
|
MARS2
(HGNC:25133)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
LRSAM1
(HGNC:25135)
|
Charcot-Marie-Tooth disease axonal type 2P
(MONDO_0013753)
|
Strong
|
|
|
CTNNB1
(HGNC:2514)
|
severe intellectual disability-progressive spastic diplegia syndrome
(MONDO_0014035)
|
Definitive
|
|
|
HOGA1
(HGNC:25155)
|
primary hyperoxaluria type 3
(MONDO_0013327)
|
Definitive
|
|
|
CTNNB1
(HGNC:2514)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Strong
|
|
|
CTNND2
(HGNC:2516)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
CTNND1
(HGNC:2515)
|
blepharocheilodontic syndrome
(MONDO_0007339)
|
Strong
|
|
|
CTNS
(HGNC:2518)
|
ocular cystinosis
(MONDO_0009064)
|
Strong
|
|
|
CTNS
(HGNC:2518)
|
juvenile nephropathic cystinosis
(MONDO_0009066)
|
Definitive
|
|
|
CTNS
(HGNC:2518)
|
nephropathic infantile cystinosis
(MONDO_0018467)
|
Definitive
|
|
|
SLC25A46
(HGNC:25198)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
SLC25A46
(HGNC:25198)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Limited
|
|
|
MMADHC
(HGNC:25221)
|
methylmalonic aciduria and homocystinuria type cblD
(MONDO_0010185)
|
Strong
|
|
|
COQ2
(HGNC:25223)
|
multiple system atrophy
(MONDO_0007803)
|
Limited
|
|
|
SGSM3
(HGNC:25228)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
CCDC39
(HGNC:25244)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
CTRC
(HGNC:2523)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Strong
|
|
|
CTSB
(HGNC:2527)
|
keratolytic winter erythema
(MONDO_0007854)
|
Refuted
|
|
|
ODAD4
(HGNC:25280)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
TLCD3B
(HGNC:25295)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
CTSD
(HGNC:2529)
|
neuronal ceroid lipofuscinosis 10
(MONDO_0012414)
|
Limited
|
|
|
CTSD
(HGNC:2529)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Strong
|
|
|
CTSF
(HGNC:2531)
|
adult neuronal ceroid lipofuscinosis
(MONDO_0019260)
|
Strong
|
|
|
C3orf20
(HGNC:25320)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
SLC30A10
(HGNC:25355)
|
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
(MONDO_0013208)
|
Moderate
|
|
|
CCDC8
(HGNC:25367)
|
3-M syndrome
(MONDO_0007477)
|
Limited
|
|
|
FREM2
(HGNC:25396)
|
Fraser syndrome
(MONDO_0009046)
|
Definitive
|
|
|
ADH5
(HGNC:253)
|
AMED syndrome, digenic
(MONDO_0030894)
|
Strong
|
|
|
OTUD5
(HGNC:25402)
|
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
(MONDO_0025351)
|
Moderate
|
|
|
SASS6
(HGNC:25403)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Limited
|
|
|
ZWILCH
(HGNC:25468)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
TRMU
(HGNC:25481)
|
mitochondrial myopathy with reversible cytochrome C oxidase deficiency
(MONDO_0010780)
|
Limited
|
|
|
TRMU
(HGNC:25481)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
LRRC56
(HGNC:25430)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
TSR2
(HGNC:25455)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
MTPAP
(HGNC:25532)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
VAC14
(HGNC:25507)
|
Yunis-Varon syndrome
(MONDO_0008995)
|
Limited
|
|
|
TRMU
(HGNC:25481)
|
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
(MONDO_0013111)
|
Moderate
|
|
|
CUBN
(HGNC:2548)
|
Imerslund-Grasbeck syndrome
(MONDO_0009853)
|
Strong
|
|
|
DARS2
(HGNC:25538)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
CUL3
(HGNC:2553)
|
neurodevelopmental disorder with or without autism or seizures
(MONDO_0030994)
|
Strong
|
|
|
SETD5
(HGNC:25566)
|
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
(MONDO_0014336)
|
Moderate
|
|
|
VPS53
(HGNC:25608)
|
pontocerebellar hypoplasia type 2E
(MONDO_0014370)
|
Limited
|
|
|
NAXD
(HGNC:25576)
|
NAD(P)HX dehydratase deficiency
(MONDO_0034121)
|
Strong
|
|
|
CWF19L1
(HGNC:25613)
|
autosomal recessive spinocerebellar ataxia 17
(MONDO_0014503)
|
Strong
|
|
|
ODAD2
(HGNC:25583)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
ARL13B
(HGNC:25419)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
WRAP53
(HGNC:25522)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
TBC1D23
(HGNC:25622)
|
pontocerebellar hypoplasia, type 11
(MONDO_0054669)
|
Limited
|
|
|
TTC21B
(HGNC:25660)
|
nephronophthisis 12
(MONDO_0013442)
|
Moderate
|
|
|
ANO10
(HGNC:25519)
|
autosomal recessive spinocerebellar ataxia 10
(MONDO_0013392)
|
Limited
|
|
|
BCORL1
(HGNC:25657)
|
Shukla-Vernon syndrome
(MONDO_0026727)
|
Limited
|
|
|
CCDC88A
(HGNC:25523)
|
PEHO-like syndrome
(MONDO_0020495)
|
Limited
|
|
|
AAGAB
(HGNC:25662)
|
punctate palmoplantar keratoderma type 1
(MONDO_0019332)
|
Definitive
|
|
|
RNASEH2B
(HGNC:25671)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
RNASEH2B
(HGNC:25671)
|
Aicardi-Goutieres syndrome 2
(MONDO_0012429)
|
Limited
|
|
|
RNASEH2B
(HGNC:25671)
|
Aicardi-Goutieres syndrome
(MONDO_0018866)
|
Definitive
|
|
|
OFD1
(HGNC:2567)
|
Simpson-Golabi-Behmel syndrome type 2
(MONDO_0010265)
|
Limited
|
|
|
CXCR4
(HGNC:2561)
|
WHIM syndrome
(MONDO_0023880)
|
Definitive
|
|
|
OFD1
(HGNC:2567)
|
retinitis pigmentosa 23
(MONDO_0010320)
|
Limited
|
|
|
OFD1
(HGNC:2567)
|
Joubert syndrome 10
(MONDO_0010431)
|
Strong
|
|
|
OFD1
(HGNC:2567)
|
orofaciodigital syndrome I
(MONDO_0010702)
|
Definitive
|
|
|
OFD1
(HGNC:2567)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
OFD1
(HGNC:2567)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
CARS2
(HGNC:25695)
|
combined oxidative phosphorylation defect type 27
(MONDO_0014728)
|
Strong
|
|
|
CARS2
(HGNC:25695)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
GPATCH3
(HGNC:25720)
|
congenital glaucoma
(MONDO_0020366)
|
Moderate
|
|
|
TRAPPC11
(HGNC:25751)
|
triple-A syndrome
(MONDO_0009279)
|
Limited
|
|
|
TRAPPC11
(HGNC:25751)
|
autosomal recessive limb-girdle muscular dystrophy type R18
(MONDO_0014144)
|
Definitive
|
|
|
NHEJ1
(HGNC:25737)
|
Cernunnos-XLF deficiency
(MONDO_0012650)
|
Strong
|
|
|
TCTN2
(HGNC:25774)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
CYBA
(HGNC:2577)
|
chronic granulomatous disease
(MONDO_0018305)
|
Definitive
|
|
|
ARMC5
(HGNC:25781)
|
ACTH-independent macronodular adrenal hyperplasia 2
(MONDO_0014416)
|
Definitive
|
|
|
REEP1
(HGNC:25786)
|
hereditary spastic paraplegia 31
(MONDO_0012453)
|
Definitive
|
|
|
EFL1
(HGNC:25789)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Strong
|
|
|
GUF1
(HGNC:25799)
|
West syndrome
(MONDO_0018097)
|
Limited
|
|
|
CYC1
(HGNC:2579)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
CPLANE1
(HGNC:25801)
|
orofaciodigital syndrome type 6
(MONDO_0010176)
|
Moderate
|
|
|
FAM161A
(HGNC:25808)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ADK
(HGNC:257)
|
adenosine kinase deficiency
(MONDO_0100255)
|
Definitive
|
|
|
CYLD
(HGNC:2584)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
SRD5A3
(HGNC:25812)
|
SRD5A3-congenital disorder of glycosylation
(MONDO_0012885)
|
Strong
|
|
|
GRHL3
(HGNC:25839)
|
van der Woude syndrome
(MONDO_0019508)
|
Strong
|
|
|
GINS3
(HGNC:25851)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
ZNF606
(HGNC:25879)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
CYLD
(HGNC:2584)
|
familial multiple trichoepithelioma
(MONDO_0011114)
|
Strong
|
|
|
ORAI1
(HGNC:25896)
|
tubular aggregate myopathy
(MONDO_0008051)
|
Strong
|
|
|
ORAI1
(HGNC:25896)
|
Stormorken syndrome
(MONDO_0008497)
|
Strong
|
|
|
POMGNT2
(HGNC:25902)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Limited
|
|
|
CEP89
(HGNC:25907)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
MFSD2A
(HGNC:25897)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
CYP11A1
(HGNC:2590)
|
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
(MONDO_0013400)
|
Strong
|
|
|
CYP11B1
(HGNC:2591)
|
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
(MONDO_0008729)
|
Strong
|
|
|
CYP11B2
(HGNC:2592)
|
corticosterone methyloxidase type 2 deficiency
(MONDO_0012524)
|
Strong
|
|
|
CYP17A1
(HGNC:2593)
|
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
(MONDO_0008730)
|
Strong
|
|
|
TET2
(HGNC:25941)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Strong
|
|
|
KLHL24
(HGNC:25947)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
CYP11B2
(HGNC:2592)
|
corticosterone methyloxidase type 1 deficiency
(MONDO_0008751)
|
Definitive
|
|
|
CYP19A1
(HGNC:2594)
|
aromatase deficiency
(MONDO_0013301)
|
Strong
|
|
|
CYP19A1
(HGNC:2594)
|
aromatase excess syndrome
(MONDO_0007690)
|
Definitive
|
|
|
CYP1B1
(HGNC:2597)
|
Peters anomaly
(MONDO_0011414)
|
Strong
|
|
|
CYP1B1
(HGNC:2597)
|
congenital glaucoma
(MONDO_0020366)
|
Definitive
|
|
|
NSUN2
(HGNC:25994)
|
Dubowitz syndrome
(MONDO_0009124)
|
Moderate
|
|
|
TTC19
(HGNC:26006)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
TTC19
(HGNC:26006)
|
mitochondrial complex III deficiency nuclear type 2
(MONDO_0014063)
|
Strong
|
|
|
TTC19
(HGNC:26006)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Strong
|
|
|
CYP21A2
(HGNC:2600)
|
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
(MONDO_0008728)
|
Definitive
|
|
|
TRMT10C
(HGNC:26022)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
CYP24A1
(HGNC:2602)
|
hypercalcemia, infantile, 1
(MONDO_0020739)
|
Definitive
|
|
|
PIGV
(HGNC:26031)
|
hyperphosphatasia with intellectual disability syndrome 1
(MONDO_0009398)
|
Strong
|
|
|
TMEM127
(HGNC:26038)
|
renal cell carcinoma
(MONDO_0005086)
|
Limited
|
|
|
PIGV
(HGNC:26031)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Strong
|
|
|
TMEM70
(HGNC:26050)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SLC25A38
(HGNC:26054)
|
autosomal recessive sideroblastic anemia
(MONDO_0016828)
|
Definitive
|
|
|
CYP27B1
(HGNC:2606)
|
vitamin D-dependent rickets, type 1
(MONDO_0009924)
|
Definitive
|
|
|
CYP2A6
(HGNC:2610)
|
nicotine dependence
(MONDO_0008575)
|
Limited
|
|
|
CCDC40
(HGNC:26090)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
TCTN1
(HGNC:26113)
|
Meckel syndrome
(MONDO_0018921)
|
Limited
|
|
|
PALB2
(HGNC:26144)
|
familial ovarian cancer
(MONDO_0016248)
|
Strong
|
|
|
PALB2
(HGNC:26144)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
PALB2
(HGNC:26144)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Strong
|
|
|
AGBL5
(HGNC:26147)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CTC1
(HGNC:26169)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
COLGALT1
(HGNC:26182)
|
brain small vessel disease 3
(MONDO_0100105)
|
Strong
|
|
|
FHOD3
(HGNC:26178)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
STN1
(HGNC:26200)
|
Coats plus syndrome
(MONDO_0012815)
|
Moderate
|
|
|
OCEL1
(HGNC:26221)
|
Aicardi syndrome
(MONDO_0010568)
|
Disputed
|
|
|
POMK
(HGNC:26267)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Limited
|
|
|
PIEZO2
(HGNC:26270)
|
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
(MONDO_0007158)
|
Definitive
|
|
|
PIEZO2
(HGNC:26270)
|
Gordon syndrome
(MONDO_0007252)
|
Definitive
|
|
|
PIEZO2
(HGNC:26270)
|
Marden-Walker syndrome
(MONDO_0009564)
|
Limited
|
|
|
SPEF2
(HGNC:26293)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
NARS2
(HGNC:26274)
|
combined oxidative phosphorylation defect type 24
(MONDO_0014547)
|
Strong
|
|
|
NARS2
(HGNC:26274)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
SCLT1
(HGNC:26406)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
HEPACAM
(HGNC:26361)
|
megalencephalic leukoencephalopathy with subcortical cysts 2A
(MONDO_0013490)
|
Strong
|
|
|
HEPACAM
(HGNC:26361)
|
megalencephalic leukoencephalopathy with subcortical cysts
(MONDO_0011391)
|
Definitive
|
|
|
UROC1
(HGNC:26444)
|
urocanic aciduria
(MONDO_0010167)
|
Disputed
|
|
|
ZMAT2
(HGNC:26433)
|
congenital radioulnar synostosis
(MONDO_0017985)
|
Limited
|
|
|
NARS2
(HGNC:26274)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
AGBL1
(HGNC:26504)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Disputed
|
|
|
LOXHD1
(HGNC:26521)
|
Fuchs' endothelial dystrophy
(MONDO_0005321)
|
Disputed
|
|
|
HGSNAT
(HGNC:26527)
|
mucopolysaccharidosis type 3
(MONDO_0018937)
|
Definitive
|
|
|
HGSNAT
(HGNC:26527)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CYP7B1
(HGNC:2652)
|
congenital bile acid synthesis defect 3
(MONDO_0013439)
|
Limited
|
|
|
DZIP1L
(HGNC:26551)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Moderate
|
|
|
CFAP53
(HGNC:26530)
|
situs inversus
(MONDO_0010029)
|
Moderate
|
|
|
ODAD1
(HGNC:26560)
|
primary ciliary dyskinesia 20
(MONDO_0014030)
|
Moderate
|
|
|
UNC80
(HGNC:26582)
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
(MONDO_0014777)
|
Strong
|
|
|
DOK7
(HGNC:26594)
|
congenital myasthenic syndrome 10
(MONDO_0009690)
|
Definitive
|
|
|
DOK7
(HGNC:26594)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Moderate
|
|
|
WDR81
(HGNC:26600)
|
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
(MONDO_0012430)
|
Strong
|
|
|
POC5
(HGNC:26658)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
CYP7B1
(HGNC:2652)
|
hereditary spastic paraplegia 5A
(MONDO_0010047)
|
Definitive
|
|
|
LOXHD1
(HGNC:26521)
|
autosomal recessive nonsyndromic hearing loss 77
(MONDO_0013119)
|
Definitive
|
|
|
RNF168
(HGNC:26661)
|
RIDDLE syndrome
(MONDO_0012764)
|
Moderate
|
|
|
CFAP43
(HGNC:26684)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
CFAP43
(HGNC:26684)
|
normal pressure hydrocephalus
(MONDO_0009366)
|
Moderate
|
|
|
BBS12
(HGNC:26648)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Definitive
|
|
|
CEP120
(HGNC:26690)
|
ciliopathy
(MONDO_0005308)
|
Moderate
|
|
|
DAB1
(HGNC:2661)
|
spinocerebellar ataxia type 37
(MONDO_0014410)
|
Strong
|
|
|
CEP120
(HGNC:26690)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
CEP120
(HGNC:26690)
|
Joubert syndrome
(MONDO_0018772)
|
Moderate
|
|
|
CFAP47
(HGNC:26708)
|
polycystic kidney disease
(MONDO_0020642)
|
Limited
|
|
|
CD55
(HGNC:2665)
|
protein-losing enteropathy
(MONDO_0009174)
|
Strong
|
|
|
MTRFR
(HGNC:26784)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
MTRFR
(HGNC:26784)
|
combined oxidative phosphorylation defect type 7
(MONDO_0013306)
|
Moderate
|
|
|
DARS1
(HGNC:2678)
|
hypomyelination with brain stem and spinal cord involvement and leg spasticity
(MONDO_0014115)
|
Limited
|
|
|
WDR72
(HGNC:26790)
|
renal tubular acidosis
(MONDO_0001909)
|
Limited
|
|
|
WDR72
(HGNC:26790)
|
amelogenesis imperfecta
(MONDO_0019507)
|
Definitive
|
|
|
RILPL1
(HGNC:26814)
|
oculopharyngodistal myopathy 4
(MONDO_0030712)
|
Limited
|
|
|
CYP4F22
(HGNC:26820)
|
lamellar ichthyosis
(MONDO_0017778)
|
Moderate
|
|
|
CCDC141
(HGNC:26821)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Moderate
|
|
|
CCDC141
(HGNC:26821)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
TMTC3
(HGNC:26899)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Strong
|
|
|
DBH
(HGNC:2689)
|
orthostatic hypotension 1
(MONDO_0009123)
|
Strong
|
|
|
FOXRED1
(HGNC:26927)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
FOXRED1
(HGNC:26927)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
CDIN1
(HGNC:26929)
|
congenital dyserythropoietic anemia type 1
(MONDO_0020337)
|
Moderate
|
|
|
HIKESHI
(HGNC:26938)
|
hypomyelinating leukodystrophy 13
(MONDO_0014813)
|
Limited
|
|
|
BLTP1
(HGNC:26953)
|
Alkuraya-Kucinskas syndrome
(MONDO_0060631)
|
Limited
|
|
|
PDZD8
(HGNC:26974)
|
intellectual developmental disorder with autism and dysmorphic facies
(MONDO_0859281)
|
Strong
|
|
|
DCC
(HGNC:2701)
|
esophageal cancer
(MONDO_0007576)
|
Limited
|
|
|
METTL23
(HGNC:26988)
|
intellectual disability, autosomal recessive 44
(MONDO_0014409)
|
Strong
|
|
|
DCC
(HGNC:2701)
|
colorectal cancer
(MONDO_0005575)
|
Strong
|
|
|
DCC
(HGNC:2701)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
DCC
(HGNC:2701)
|
familial congenital mirror movements
(MONDO_0016558)
|
Strong
|
|
|
C5orf47
(HGNC:27026)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
DNAJC21
(HGNC:27030)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Moderate
|
|
|
DNAJC21
(HGNC:27030)
|
bone marrow failure syndrome 3
(MONDO_0014887)
|
Moderate
|
|
|
DCN
(HGNC:2705)
|
congenital stromal corneal dystrophy
(MONDO_0012401)
|
Moderate
|
|
|
CARMIL2
(HGNC:27089)
|
severe combined immunodeficiency due to CARMIL2 deficiency
(MONDO_0029134)
|
Limited
|
|
|
DCT
(HGNC:2709)
|
oculocutaneous albinism type 8
(MONDO_0030899)
|
Strong
|
|
|
DCTN1
(HGNC:2711)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
DCTN1
(HGNC:2711)
|
Perry syndrome
(MONDO_0008201)
|
Definitive
|
|
|
DCTN1
(HGNC:2711)
|
neuronopathy, distal hereditary motor, type 7B
(MONDO_0011879)
|
Moderate
|
|
|
DDB2
(HGNC:2718)
|
xeroderma pigmentosum group E
(MONDO_0010213)
|
Moderate
|
|
|
DDB2
(HGNC:2718)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Definitive
|
|
|
ACSF3
(HGNC:27288)
|
combined malonic and methylmalonic acidemia
(MONDO_0013661)
|
Definitive
|
|
|
DDOST
(HGNC:2728)
|
DDOST-congenital disorder of glycosylation
(MONDO_0013789)
|
Moderate
|
|
|
IBA57
(HGNC:27302)
|
multiple mitochondrial dysfunctions syndrome 3
(MONDO_0014132)
|
Strong
|
|
|
IBA57
(HGNC:27302)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
FLCN
(HGNC:27310)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
FLCN
(HGNC:27310)
|
familial spontaneous pneumothorax
(MONDO_0008259)
|
Strong
|
|
|
DDR2
(HGNC:2731)
|
warburg-cinotti syndrome
(MONDO_0032579)
|
Strong
|
|
|
ANO5
(HGNC:27337)
|
gnathodiaphyseal dysplasia
(MONDO_0008151)
|
Strong
|
|
|
ANO5
(HGNC:27337)
|
autosomal recessive limb-girdle muscular dystrophy type 2L
(MONDO_0012652)
|
Strong
|
|
|
ANO5
(HGNC:27337)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Strong
|
|
|
TECRL
(HGNC:27365)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Moderate
|
|
|
RBM20
(HGNC:27424)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
DDX3X
(HGNC:2745)
|
Toriello-Carey syndrome
(MONDO_0009021)
|
Limited
|
|
|
TSEN54
(HGNC:27561)
|
pontocerebellar hypoplasia type 2A
(MONDO_0010190)
|
Strong
|
|
|
TSEN54
(HGNC:27561)
|
pontocerebellar hypoplasia type 2
(MONDO_0016759)
|
Definitive
|
|
|
EMC10
(HGNC:27609)
|
neurodevelopmental disorder with dysmorphic facies and variable seizures
(MONDO_0031011)
|
Strong
|
|
|
DES
(HGNC:2770)
|
atrioventricular block
(MONDO_0000465)
|
Limited
|
|
|
DES
(HGNC:2770)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
DES
(HGNC:2770)
|
myofibrillar myopathy 1
(MONDO_0011076)
|
Strong
|
|
|
DES
(HGNC:2770)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Moderate
|
|
|
STING1
(HGNC:27962)
|
familial chilblain lupus
(MONDO_0018827)
|
Moderate
|
|
|
GRHL2
(HGNC:2799)
|
posterior polymorphous corneal dystrophy
(MONDO_0020364)
|
Strong
|
|
|
NIPAL4
(HGNC:28018)
|
lamellar ichthyosis
(MONDO_0017778)
|
Strong
|
|
|
NIPAL4
(HGNC:28018)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Moderate
|
|
|
WDPCP
(HGNC:28027)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
LYRM7
(HGNC:28072)
|
mitochondrial disease
(MONDO_0044970)
|
Definitive
|
|
|
NDUFAF2
(HGNC:28086)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
GSDME
(HGNC:2810)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
NDUFAF2
(HGNC:28086)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
TMEM107
(HGNC:28128)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
CCDC115
(HGNC:28178)
|
CCDC115-CDG
(MONDO_0014789)
|
Strong
|
|
|
CEP19
(HGNC:28209)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
CFAP300
(HGNC:28188)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
HPDL
(HGNC:28242)
|
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
(MONDO_0033613)
|
Moderate
|
|
|
PHYKPL
(HGNC:28249)
|
phosphohydroxylysinuria
(MONDO_0014008)
|
Limited
|
|
|
TBCK
(HGNC:28261)
|
hypotonia, infantile, with psychomotor retardation and characteristic facies 3
(MONDO_0014823)
|
Definitive
|
|
|
DYNC2I2
(HGNC:28296)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
ODAD3
(HGNC:28303)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
TET3
(HGNC:28313)
|
Beck-Fahrner syndrome
(MONDO_0032922)
|
Strong
|
|
|
C9orf72
(HGNC:28337)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Limited
|
|
|
D2HGDH
(HGNC:28358)
|
D-2-hydroxyglutaric aciduria
(MONDO_0010924)
|
Definitive
|
|
|
SGMS2
(HGNC:28395)
|
calvarial doughnut lesions-bone fragility syndrome
(MONDO_0007470)
|
Strong
|
|
|
TMEM67
(HGNC:28396)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
TMEM67
(HGNC:28396)
|
Joubert syndrome
(MONDO_0018772)
|
Definitive
|
|
|
TMEM67
(HGNC:28396)
|
Joubert syndrome 6
(MONDO_0012539)
|
Strong
|
|
|
TMEM67
(HGNC:28396)
|
Meckel syndrome
(MONDO_0018921)
|
Definitive
|
|
|
MFSD8
(HGNC:28486)
|
neuronal ceroid lipofuscinosis 7
(MONDO_0012588)
|
Limited
|
|
|
EOGT
(HGNC:28526)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
KLHDC8B
(HGNC:28557)
|
classic Hodgkin lymphoma
(MONDO_0009348)
|
Limited
|
|
|
DGUOK
(HGNC:2858)
|
mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
(MONDO_0009636)
|
Strong
|
|
|
B3GALNT2
(HGNC:28596)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Strong
|
|
|
SNX31
(HGNC:28605)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
B3GALNT2
(HGNC:28596)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
RICTOR
(HGNC:28611)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
DHFR
(HGNC:2861)
|
constitutional megaloblastic anemia with severe neurologic disease
(MONDO_0013456)
|
Limited
|
|
|
NDUFAF6
(HGNC:28625)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
DHCR7
(HGNC:2860)
|
Smith-Lemli-Opitz syndrome
(MONDO_0010035)
|
Definitive
|
|
|
B9D2
(HGNC:28636)
|
Meckel syndrome
(MONDO_0018921)
|
Moderate
|
|
|
DIS3L2
(HGNC:28648)
|
Perlman syndrome
(MONDO_0009965)
|
Definitive
|
|
|
DHH
(HGNC:2865)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Strong
|
|
|
DHODH
(HGNC:2867)
|
postaxial acrofacial dysostosis
(MONDO_0009903)
|
Strong
|
|
|
COQ5
(HGNC:28722)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
AFG2B
(HGNC:28762)
|
neurodevelopmental disorder with hearing loss and spasticity
(MONDO_0859206)
|
Limited
|
|
|
CYB5R3
(HGNC:2873)
|
hereditary methemoglobinemia
(MONDO_0018963)
|
Strong
|
|
|
CYB5R3
(HGNC:2873)
|
methemoglobinemia due to deficiency of methemoglobin reductase
(MONDO_0009606)
|
Definitive
|
|
|
DRAM2
(HGNC:28769)
|
cone-rod dystrophy 21
(MONDO_0014669)
|
Strong
|
|
|
DIAPH1
(HGNC:2876)
|
autosomal dominant nonsyndromic hearing loss 1
(MONDO_0007424)
|
Strong
|
|
|
P4HTM
(HGNC:28858)
|
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
(MONDO_0032780)
|
Strong
|
|
|
MAGT1
(HGNC:28880)
|
X-linked intellectual disability
(MONDO_0100284)
|
Disputed
|
|
|
DRAM2
(HGNC:28769)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
DIAPH1
(HGNC:2876)
|
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
(MONDO_0014714)
|
Definitive
|
|
|
MAGT1
(HGNC:28880)
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
(MONDO_0010455)
|
Strong
|
|
|
SAMD11
(HGNC:28706)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
CCDC22
(HGNC:28909)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
CCDC120
(HGNC:28910)
|
osteopetrosis
(MONDO_0017198)
|
Limited
|
|
|
WDR45
(HGNC:28912)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
CCDC22
(HGNC:28909)
|
Ritscher-Schinzel syndrome
(MONDO_0019078)
|
Strong
|
|
|
JAZF1
(HGNC:28917)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
IQCB1
(HGNC:28949)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Definitive
|
|
|
KRT71
(HGNC:28927)
|
isolated familial wooly hair disorder
(MONDO_0008686)
|
Moderate
|
|
|
IQCB1
(HGNC:28949)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
NUP93
(HGNC:28958)
|
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
|
Strong
|
|
|
TMEM94
(HGNC:28983)
|
intellectual developmental disorder with cardiac defects and dysmorphic facies
(MONDO_0032672)
|
Limited
|
|
|
DLAT
(HGNC:2896)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
WASHC5
(HGNC:28984)
|
hereditary spastic paraplegia 8
(MONDO_0011339)
|
Moderate
|
|
|
WASHC5
(HGNC:28984)
|
Ritscher-Schinzel syndrome
(MONDO_0019078)
|
Strong
|
|
|
EMC1
(HGNC:28957)
|
cerebellar atrophy, visual impairment, and psychomotor retardation;
(MONDO_0014811)
|
Strong
|
|
|
PIEZO1
(HGNC:28993)
|
lymphatic malformation 6
(MONDO_0014797)
|
Strong
|
|
|
RUBCN
(HGNC:28991)
|
autosomal recessive spinocerebellar ataxia 15
(MONDO_0014311)
|
Limited
|
|
|
FRMPD4
(HGNC:29007)
|
intellectual disability, X-linked 104
(MONDO_0010509)
|
Strong
|
|
|
DLG1
(HGNC:2900)
|
Brugada syndrome
(MONDO_0015263)
|
Moderate
|
|
|
GRK2
(HGNC:289)
|
Jeune syndrome
(MONDO_0018770)
|
Limited
|
|
|
KDM6B
(HGNC:29012)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
KDM6B
(HGNC:29012)
|
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
(MONDO_0032790)
|
Definitive
|
|
|
CEP290
(HGNC:29021)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
CEP290
(HGNC:29021)
|
Joubert syndrome with oculorenal defect
(MONDO_0009480)
|
Strong
|
|
|
CEP290
(HGNC:29021)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Strong
|
|
|
CEP290
(HGNC:29021)
|
Leber congenital amaurosis 10
(MONDO_0012723)
|
Strong
|
|
|
CEP290
(HGNC:29021)
|
Meckel syndrome
(MONDO_0018921)
|
Definitive
|
|
|
CEP290
(HGNC:29021)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
SZT2
(HGNC:29040)
|
developmental and epileptic encephalopathy, 18
(MONDO_0014201)
|
Strong
|
|
|
SZT2
(HGNC:29040)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
DSTYK
(HGNC:29043)
|
hereditary spastic paraplegia 23
(MONDO_0010046)
|
Strong
|
|
|
DSTYK
(HGNC:29043)
|
renal agenesis, unilateral
(MONDO_0019636)
|
Limited
|
|
|
KATNIP
(HGNC:29068)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
IFT140
(HGNC:29077)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
IFT140
(HGNC:29077)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Definitive
|
|
|
IFT140
(HGNC:29077)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Moderate
|
|
|
IFT140
(HGNC:29077)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
CEP135
(HGNC:29086)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
SMCHD1
(HGNC:29090)
|
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
|
Definitive
|
|
|
SMCHD1
(HGNC:29090)
|
arhinia, choanal atresia, and microphthalmia
(MONDO_0011323)
|
Definitive
|
|
|
OBSL1
(HGNC:29092)
|
3-M syndrome
(MONDO_0007477)
|
Strong
|
|
|
OBSL1
(HGNC:29092)
|
3M syndrome 2
(MONDO_0013039)
|
Definitive
|
|
|
ANKLE2
(HGNC:29101)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Strong
|
|
|
TELO2
(HGNC:29099)
|
TELO2-related intellectual disability-neurodevelopmental disorder
(MONDO_0014848)
|
Strong
|
|
|
PLEKHG5
(HGNC:29105)
|
neuromuscular disease
(MONDO_0019056)
|
Strong
|
|
|
DDHD2
(HGNC:29106)
|
hereditary spastic paraplegia 54
(MONDO_0014018)
|
Definitive
|
|
|
DLL4
(HGNC:2910)
|
aplasia cutis congenita
(MONDO_0007145)
|
Limited
|
|
|
PLEKHM2
(HGNC:29131)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
MAU2
(HGNC:29140)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
FASTKD2
(HGNC:29160)
|
combined oxidative phosphorylation deficiency 44
(MONDO_0030020)
|
Limited
|
|
|
RPGRIP1L
(HGNC:29168)
|
Meckel syndrome
(MONDO_0018921)
|
Strong
|
|
|
RPGRIP1L
(HGNC:29168)
|
Joubert syndrome 7
(MONDO_0012694)
|
Moderate
|
|
|
WASHC4
(HGNC:29174)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
CEP164
(HGNC:29182)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
CEP164
(HGNC:29182)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Strong
|
|
|
FAN1
(HGNC:29170)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Strong
|
|
|
ANKRD26
(HGNC:29186)
|
thrombocytopenia 2
(MONDO_0008555)
|
Definitive
|
|
|
ANKRD26
(HGNC:29186)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
TBC1D24
(HGNC:29203)
|
autosomal recessive nonsyndromic hearing loss 86
(MONDO_0013826)
|
Moderate
|
|
|
TNRC6B
(HGNC:29190)
|
global developmental delay with speech and behavioral abnormalities
(MONDO_0030995)
|
Strong
|
|
|
TBC1D24
(HGNC:29203)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
TBC1D24
(HGNC:29203)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Moderate
|
|
|
INTU
(HGNC:29239)
|
orofaciodigital syndrome 17
(MONDO_0033375)
|
Limited
|
|
|
PRR12
(HGNC:29217)
|
neuroocular syndrome
(MONDO_0859193)
|
Limited
|
|
|
WDR35
(HGNC:29250)
|
short-rib thoracic dysplasia 7 with or without polydactyly
(MONDO_0013569)
|
Limited
|
|
|
CC2D2A
(HGNC:29253)
|
Joubert syndrome 9
(MONDO_0012849)
|
Strong
|
|
|
USP53
(HGNC:29255)
|
cholestasis
(MONDO_0001751)
|
Strong
|
|
|
CC2D2A
(HGNC:29253)
|
Meckel syndrome
(MONDO_0018921)
|
Definitive
|
|
|
IFT80
(HGNC:29262)
|
Beemer-Langer syndrome
(MONDO_0010024)
|
Moderate
|
|
|
IFT80
(HGNC:29262)
|
Jeune syndrome
(MONDO_0018770)
|
Limited
|
|
|
DMD
(HGNC:2928)
|
Becker muscular dystrophy
(MONDO_0010311)
|
Definitive
|
|
|
DMD
(HGNC:2928)
|
dilated cardiomyopathy 3B
(MONDO_0010542)
|
Definitive
|
|
|
DMD
(HGNC:2928)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
DMD
(HGNC:2928)
|
Duchenne muscular dystrophy
(MONDO_0010679)
|
Definitive
|
|
|
DMD
(HGNC:2928)
|
progressive muscular dystrophy
(MONDO_0016106)
|
Limited
|
|
|
CEP152
(HGNC:29298)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Limited
|
|
|
CEP152
(HGNC:29298)
|
Seckel syndrome
(MONDO_0019342)
|
Strong
|
|
|
SLC7A14
(HGNC:29326)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
UVSSA
(HGNC:29304)
|
UV-sensitive syndrome
(MONDO_0015797)
|
Definitive
|
|
|
DMP1
(HGNC:2932)
|
autosomal recessive hypophosphatemic rickets
(MONDO_0017324)
|
Moderate
|
|
|
DMRT1
(HGNC:2934)
|
46,XY disorder of sex development
(MONDO_0020040)
|
Limited
|
|
|
ASXL3
(HGNC:29357)
|
syndromic intellectual disability
(MONDO_0000508)
|
Definitive
|
|
|
DMXL2
(HGNC:2938)
|
developmental and epileptic encephalopathy, 81
(MONDO_0032858)
|
Limited
|
|
|
CFAP74
(HGNC:29368)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
DMRT2
(HGNC:2935)
|
spondylocostal dysostosis
(MONDO_0000359)
|
Limited
|
|
|
DNAH1
(HGNC:2940)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
ANKRD24
(HGNC:29424)
|
sensorineural hearing loss disorder
(MONDO_0020678)
|
Limited
|
|
|
CLTRN
(HGNC:29437)
|
Hartnup disease
(MONDO_0009324)
|
Moderate
|
|
|
DNAH3
(HGNC:2949)
|
male infertility
(MONDO_0005372)
|
Strong
|
|
|
NEXMIF
(HGNC:29433)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Limited
|
|
|
DNAH14
(HGNC:2945)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
TBL1XR1
(HGNC:29529)
|
Pierpont syndrome
(MONDO_0011213)
|
Strong
|
|
|
GLDN
(HGNC:29514)
|
lethal congenital contracture syndrome 11
(MONDO_0014965)
|
Strong
|
|
|
DNAH9
(HGNC:2953)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
DNAH9
(HGNC:2953)
|
situs inversus
(MONDO_0010029)
|
Strong
|
|
|
DNAH8
(HGNC:2952)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Disputed
|
|
|
DNAI1
(HGNC:2954)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
LIPT1
(HGNC:29569)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NEXN
(HGNC:29557)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
DNASE1
(HGNC:2956)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
DNASE1L3
(HGNC:2959)
|
hypocomplementemic urticarial vasculitis
(MONDO_0018227)
|
Strong
|
|
|
SH2B3
(HGNC:29605)
|
acute lymphoblastic leukemia
(MONDO_0004967)
|
Limited
|
|
|
MLPH
(HGNC:29643)
|
Griscelli syndrome type 3
(MONDO_0012220)
|
Strong
|
|
|
DYNC1H1
(HGNC:2961)
|
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
(MONDO_0008026)
|
Strong
|
|
|
ROGDI
(HGNC:29478)
|
amelocerebrohypohidrotic syndrome
(MONDO_0009185)
|
Strong
|
|
|
DYNC2H1
(HGNC:2962)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|
|
PJVK
(HGNC:29502)
|
autosomal recessive nonsyndromic hearing loss 59
(MONDO_0012445)
|
Moderate
|
|
|
KIDINS220
(HGNC:29508)
|
spastic paraplegia, intellectual disability, nystagmus, and obesity
(MONDO_0015007)
|
Strong
|
|
|
IFT43
(HGNC:29669)
|
cranioectodermal dysplasia
(MONDO_0009032)
|
Limited
|
|
|
GNPTAB
(HGNC:29670)
|
mucolipidosis type III, alpha/beta
(MONDO_0018931)
|
Definitive
|
|
|
GNPTAB
(HGNC:29670)
|
mucolipidosis
(MONDO_0019248)
|
Strong
|
|
|
MSTO1
(HGNC:29678)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
IARS2
(HGNC:29685)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
DNM1
(HGNC:2972)
|
Lennox-Gastaut syndrome
(MONDO_0016532)
|
Strong
|
|
|
DNM1
(HGNC:2972)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Definitive
|
|
|
IARS2
(HGNC:29685)
|
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
(MONDO_0014455)
|
Strong
|
|
|
DNM1L
(HGNC:2973)
|
encephalopathy due to mitochondrial and peroxisomal fission defect
(MONDO_0054865)
|
Moderate
|
|
|
DNM2
(HGNC:2974)
|
fetal akinesia-cerebral and retinal hemorrhage syndrome
(MONDO_0014149)
|
Limited
|
|
|
DNM2
(HGNC:2974)
|
Charcot-Marie-Tooth disease dominant intermediate B
(MONDO_0011674)
|
Limited
|
|
|
DNMT1
(HGNC:2976)
|
hereditary sensory neuropathy-deafness-dementia syndrome
(MONDO_0013584)
|
Strong
|
|
|
DNM1L
(HGNC:2973)
|
autosomal dominant optic atrophy, classic form
(MONDO_0008134)
|
Strong
|
|
|
DNMT3A
(HGNC:2978)
|
Heyn-Sproul-Jackson syndrome
(MONDO_0032882)
|
Limited
|
|
|
DNM2
(HGNC:2974)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
DNMT3A
(HGNC:2978)
|
Tatton-Brown-Rahman overgrowth syndrome
(MONDO_0014382)
|
Definitive
|
|
|
DNMT1
(HGNC:2976)
|
autosomal dominant cerebellar ataxia, deafness and narcolepsy
(MONDO_0011397)
|
Strong
|
|
|
DNMT3B
(HGNC:2979)
|
immunodeficiency-centromeric instability-facial anomalies syndrome
(MONDO_0000133)
|
Definitive
|
|
|
DCPS
(HGNC:29812)
|
Al-Raqad syndrome
(MONDO_0014648)
|
Strong
|
|
|
DNMT3B
(HGNC:2979)
|
facioscapulohumeral muscular dystrophy
(MONDO_0001347)
|
Limited
|
|
|
NADSYN1
(HGNC:29832)
|
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
|
Strong
|
|
|
MYLK3
(HGNC:29826)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
NUP107
(HGNC:29914)
|
46 XX gonadal dysgenesis
(MONDO_0009299)
|
Moderate
|
|
|
NSMF
(HGNC:29843)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Limited
|
|
|
HECW2
(HGNC:29853)
|
neurodevelopmental disorder with hypotonia, seizures, and absent language
(MONDO_0014995)
|
Limited
|
|
|
NUP107
(HGNC:29914)
|
familial idiopathic steroid-resistant nephrotic syndrome
(MONDO_0019006)
|
Limited
|
|
|
MDM1
(HGNC:29917)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
NUP107
(HGNC:29914)
|
Galloway-Mowat syndrome
(MONDO_0009627)
|
Strong
|
|
|
NDUFAF3
(HGNC:29918)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
COASY
(HGNC:29932)
|
neurodegeneration with brain iron accumulation 6
(MONDO_0014290)
|
Moderate
|
|
|
SPATA16
(HGNC:29935)
|
spermatogenic failure 6
(MONDO_0007060)
|
Limited
|
|
|
NDUFAF3
(HGNC:29918)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
DPAGT1
(HGNC:2995)
|
DPAGT1-congenital disorder of glycosylation
(MONDO_0011964)
|
Definitive
|
|
|
COASY
(HGNC:29932)
|
pontocerebellar hypoplasia, type 12
(MONDO_0032643)
|
Strong
|
|
|
ABCA1
(HGNC:29)
|
Tangier disease
(MONDO_0008783)
|
Definitive
|
|
|
PACS1
(HGNC:30032)
|
Schuurs-Hoeijmakers syndrome
(MONDO_0014006)
|
Definitive
|
|
|
DPM1
(HGNC:3005)
|
congenital disorder of glycosylation type 1E
(MONDO_0012123)
|
Strong
|
|
|
PIK3R5
(HGNC:30035)
|
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
(MONDO_0018996)
|
Limited
|
|
|
KIAA0319L
(HGNC:30071)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
POLR3A
(HGNC:30074)
|
odontoleukodystrophy
(MONDO_0019177)
|
Strong
|
|
|
POLR3A
(HGNC:30074)
|
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
(MONDO_0011897)
|
Moderate
|
|
|
REEP6
(HGNC:30078)
|
retinitis pigmentosa 77
(MONDO_0015013)
|
Strong
|
|
|
PSENEN
(HGNC:30100)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
DPP6
(HGNC:3010)
|
paroxysmal familial ventricular fibrillation
(MONDO_0100234)
|
Definitive
|
|
|
POP1
(HGNC:30129)
|
anauxetic dysplasia
(MONDO_0011773)
|
Strong
|
|
|
DPYD
(HGNC:3012)
|
dihydropyrimidine dehydrogenase deficiency
(MONDO_0010130)
|
Definitive
|
|
|
DPYS
(HGNC:3013)
|
dihydropyrimidinuria
(MONDO_0009111)
|
Strong
|
|
|
DPYSL2
(HGNC:3014)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
STRADA
(HGNC:30172)
|
polyhydramnios, megalencephaly, and symptomatic epilepsy
(MONDO_0012611)
|
Strong
|
|
|
CRBN
(HGNC:30185)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Moderate
|
|
|
ATP13A2
(HGNC:30213)
|
Kufor-Rakeb syndrome
(MONDO_0011706)
|
Definitive
|
|
|
RFT1
(HGNC:30220)
|
RFT1-congenital disorder of glycosylation
(MONDO_0012783)
|
Definitive
|
|
|
SLC52A2
(HGNC:30224)
|
Brown-Vialetto-van Laere syndrome 2
(MONDO_0013867)
|
Strong
|
|
|
SLC52A1
(HGNC:30225)
|
ariboflavinosis
(MONDO_0004573)
|
Limited
|
|
|
PREPL
(HGNC:30228)
|
hypotonia-cystinuria syndrome
(MONDO_0011669)
|
Definitive
|
|
|
PREPL
(HGNC:30228)
|
myasthenic syndrome, congenital, 22
(MONDO_0044299)
|
Strong
|
|
|
CC2D1A
(HGNC:30237)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
WLS
(HGNC:30238)
|
Zaki syndrome
(MONDO_0859209)
|
Strong
|
|
|
TUSC3
(HGNC:30242)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
PNPO
(HGNC:30260)
|
pyridoxal phosphate-responsive seizures
(MONDO_0012407)
|
Strong
|
|
|
PYCR2
(HGNC:30262)
|
hypomyelinating leukodystrophy 10
(MONDO_0014632)
|
Strong
|
|
|
DRD5
(HGNC:3026)
|
attention deficit-hyperactivity disorder
(MONDO_0007743)
|
Limited
|
|
|
RGS9BP
(HGNC:30304)
|
bradyopsia
(MONDO_0012033)
|
Moderate
|
|
|
ARHGEF28
(HGNC:30322)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
RIC3
(HGNC:30338)
|
Parkinson disease
(MONDO_0005180)
|
Disputed
|
|
|
ATN1
(HGNC:3033)
|
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
(MONDO_0032781)
|
Moderate
|
|
|
POLR3B
(HGNC:30348)
|
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
(MONDO_0013722)
|
Strong
|
|
|
KLHL40
(HGNC:30372)
|
nemaline myopathy 8
(MONDO_0014138)
|
Strong
|
|
|
SCAMP5
(HGNC:30386)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
IFT172
(HGNC:30391)
|
short-rib thoracic dysplasia 9 with or without polydactyly
(MONDO_0009964)
|
Limited
|
|
|
IFT172
(HGNC:30391)
|
Jeune syndrome
(MONDO_0018770)
|
Limited
|
|
|
DSCAM
(HGNC:3039)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
AEBP1
(HGNC:303)
|
Ehlers-Danlos syndrome, classic-like, 2
(MONDO_0054813)
|
Strong
|
|
|
SHROOM3
(HGNC:30422)
|
neural tube defect
(MONDO_0018075)
|
Moderate
|
|
|
PIGP
(HGNC:3046)
|
developmental and epileptic encephalopathy, 55
(MONDO_0033364)
|
Limited
|
|
|
KIF7
(HGNC:30497)
|
acrocallosal syndrome
(MONDO_0008708)
|
Strong
|
|
|
DSG2
(HGNC:3049)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
PRRT2
(HGNC:30500)
|
infantile convulsions and choreoathetosis
(MONDO_0011178)
|
Strong
|
|
|
PRRT2
(HGNC:30500)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Definitive
|
|
|
PRRT2
(HGNC:30500)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
DSP
(HGNC:3052)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
YIF1B
(HGNC:30511)
|
Kaya-Barakat-Masson syndrome
(MONDO_0030878)
|
Strong
|
|
|
DSP
(HGNC:3052)
|
lethal acantholytic epidermolysis bullosa
(MONDO_0012323)
|
Moderate
|
|
|
DSP
(HGNC:3052)
|
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
(MONDO_0014355)
|
Limited
|
|
|
DSP
(HGNC:3052)
|
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
|
Limited
|
|
|
DSP
(HGNC:3052)
|
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
(MONDO_0011581)
|
Definitive
|
|
|
DSPP
(HGNC:3054)
|
dentin dysplasia type II
(MONDO_0007437)
|
Moderate
|
|
|
DSP
(HGNC:3052)
|
striate palmoplantar keratoderma
(MONDO_0018865)
|
Limited
|
|
|
DSPP
(HGNC:3054)
|
dentinogenesis imperfecta type 2
(MONDO_0007441)
|
Limited
|
|
|
DSPP
(HGNC:3054)
|
dentinogenesis imperfecta type 3
(MONDO_0007442)
|
Strong
|
|
|
MARCHF6
(HGNC:30550)
|
benign adult familial myoclonic epilepsy
(MONDO_0019448)
|
Refuted
|
|
|
DNAAF1
(HGNC:30539)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
DTNA
(HGNC:3057)
|
Meniere disease
(MONDO_0007972)
|
Limited
|
|
|
TXNL4A
(HGNC:30551)
|
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
(MONDO_0012064)
|
Strong
|
|
|
PARS2
(HGNC:30563)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
SEPSECS
(HGNC:30605)
|
pontocerebellar hypoplasia type 2
(MONDO_0016759)
|
Strong
|
|
|
UBA2
(HGNC:30661)
|
ACCES syndrome
(MONDO_0859262)
|
Strong
|
|
|
DTYMK
(HGNC:3061)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Limited
|
|
|
TSHZ3
(HGNC:30700)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Strong
|
|
|
DNAJB13
(HGNC:30718)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
PPP1R21
(HGNC:30595)
|
neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
(MONDO_0859165)
|
Strong
|
|
|
DUSP6
(HGNC:3072)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Limited
|
|
|
DUSP6
(HGNC:3072)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
TMEM165
(HGNC:30760)
|
TMEM165-congenital disorder of glycosylation
(MONDO_0013870)
|
Moderate
|
|
|
GATAD2B
(HGNC:30778)
|
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
(MONDO_0014034)
|
Strong
|
|
|
CEP57
(HGNC:30794)
|
mosaic variegated aneuploidy syndrome
(MONDO_0000141)
|
Strong
|
|
|
TM9SF4
(HGNC:30797)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
CEP57
(HGNC:30794)
|
mosaic variegated aneuploidy syndrome 2
(MONDO_0013582)
|
Strong
|
|
|
TUBB2B
(HGNC:30829)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Limited
|
|
|
TRAPPC9
(HGNC:30832)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
POC1B
(HGNC:30836)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
SNRNP200
(HGNC:30859)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ALG13
(HGNC:30881)
|
developmental and epileptic encephalopathy, 36
(MONDO_0010472)
|
Definitive
|
|
|
ALG13
(HGNC:30881)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
PDGFD
(HGNC:30620)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
ALG13
(HGNC:30881)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
TMEM126B
(HGNC:30883)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
TMEM126B
(HGNC:30883)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
ATP5MK
(HGNC:30889)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
SLC6A20
(HGNC:30927)
|
hyperglycinuria
(MONDO_0007677)
|
Moderate
|
|
|
DYRK1B
(HGNC:3092)
|
abdominal obesity-metabolic syndrome 3
(MONDO_0014352)
|
Strong
|
|
|
DYSF
(HGNC:3097)
|
autosomal recessive limb-girdle muscular dystrophy type 2B
(MONDO_0009676)
|
Strong
|
|
|
DYSF
(HGNC:3097)
|
distal myopathy with anterior tibial onset
(MONDO_0011721)
|
Definitive
|
|
|
DYSF
(HGNC:3097)
|
Miyoshi myopathy
(MONDO_0009685)
|
Definitive
|
|
|
DYSF
(HGNC:3097)
|
autosomal recessive limb-girdle muscular dystrophy
(MONDO_0015152)
|
Strong
|
|
|
DYSF
(HGNC:3097)
|
qualitative or quantitative defects of dysferlin
(MONDO_0016145)
|
Definitive
|
|
|
TOR1A
(HGNC:3098)
|
early-onset generalized limb-onset dystonia
(MONDO_0007492)
|
Definitive
|
|
|
GREB1L
(HGNC:31042)
|
bilateral renal agenesis
(MONDO_0015986)
|
Limited
|
|
|
GREB1L
(HGNC:31042)
|
renal agenesis, unilateral
(MONDO_0019636)
|
Limited
|
|
|
GREB1L
(HGNC:31042)
|
renal hypodysplasia/aplasia 3
(MONDO_0024520)
|
Strong
|
|
|
GREB1L
(HGNC:31042)
|
hearing loss, autosomal dominant 80
(MONDO_0030998)
|
Moderate
|
|
|
LEFTY2
(HGNC:3122)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
LEFTY2
(HGNC:3122)
|
visceral heterotaxy
(MONDO_0018677)
|
Limited
|
|
|
GPR179
(HGNC:31371)
|
congenital stationary night blindness
(MONDO_0016293)
|
Definitive
|
|
|
WDR37
(HGNC:31406)
|
neurooculocardiogenitourinary syndrome
(MONDO_0032850)
|
Strong
|
|
|
TYMP
(HGNC:3148)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
EDA
(HGNC:3157)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|
|
ECHS1
(HGNC:3151)
|
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
(MONDO_0014563)
|
Definitive
|
|
|
AFG3L2
(HGNC:315)
|
spinocerebellar ataxia type 28
(MONDO_0012450)
|
Definitive
|
|
|
SAMD12
(HGNC:31750)
|
epilepsy, familial adult myoclonic, 1
(MONDO_0010985)
|
Limited
|
|
|
AFG3L2
(HGNC:315)
|
spastic ataxia 5
(MONDO_0013776)
|
Moderate
|
|
|
EDN1
(HGNC:3176)
|
auriculocondylar syndrome
(MONDO_0000107)
|
Limited
|
|
|
SAMD12
(HGNC:31750)
|
benign adult familial myoclonic epilepsy
(MONDO_0019448)
|
Definitive
|
|
|
EDN3
(HGNC:3178)
|
Waardenburg syndrome
(MONDO_0018094)
|
Limited
|
|
|
EDNRA
(HGNC:3179)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
EDNRA
(HGNC:3179)
|
mandibulofacial dysostosis with alopecia
(MONDO_0014608)
|
Strong
|
|
|
EDNRB
(HGNC:3180)
|
ABCD syndrome
(MONDO_0010895)
|
Limited
|
|
|
EED
(HGNC:3188)
|
Weaver syndrome
(MONDO_0010193)
|
Strong
|
|
|
EED
(HGNC:3188)
|
Cohen-Gibson syndrome
(MONDO_0060510)
|
Strong
|
|
|
LCA5
(HGNC:31923)
|
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
|
Strong
|
|
|
LCA5
(HGNC:31923)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
CEACAM16
(HGNC:31948)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
ACAN
(HGNC:319)
|
spondyloepiphyseal dysplasia, Kimberley type
(MONDO_0012019)
|
Moderate
|
|
|
ACAN
(HGNC:319)
|
spondyloepimetaphyseal dysplasia, aggrecan type
(MONDO_0013014)
|
Moderate
|
|
|
ACAN
(HGNC:319)
|
osteochondritis dissecans
(MONDO_0017178)
|
Strong
|
|
|
EEF2
(HGNC:3214)
|
spinocerebellar ataxia type 26
(MONDO_0012246)
|
Strong
|
|
|
EEF2
(HGNC:3214)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
EFEMP1
(HGNC:3218)
|
Doyne honeycomb retinal dystrophy
(MONDO_0007471)
|
Definitive
|
|
|
EFEMP2
(HGNC:3219)
|
thoracic aortic aneurysm
(MONDO_0005396)
|
Limited
|
|
|
MEGF8
(HGNC:3233)
|
Carpenter syndrome
(MONDO_0019012)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease type 4E
(MONDO_0011527)
|
Moderate
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease type 1D
(MONDO_0011890)
|
Strong
|
|
|
EGR2
(HGNC:3239)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
SLC38A8
(HGNC:32434)
|
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
(MONDO_0012216)
|
Strong
|
|
|
ALG11
(HGNC:32456)
|
ALG11-congenital disorder of glycosylation
(MONDO_0013349)
|
Strong
|
|
|
ANKDD1B
(HGNC:32525)
|
ankylosing spondylitis
(MONDO_0005306)
|
Limited
|
|
|
AGPAT2
(HGNC:325)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
EHHADH
(HGNC:3247)
|
primary Fanconi syndrome
(MONDO_0007600)
|
Moderate
|
|
|
EIF2B5
(HGNC:3261)
|
leukoencephalopathy with vanishing white matter 5
(MONDO_0957873)
|
Strong
|
|
|
AGPAT2
(HGNC:325)
|
congenital generalized lipodystrophy type 1
(MONDO_0012071)
|
Strong
|
|
|
AGO2
(HGNC:3263)
|
Lessel-Kreienkamp syndrome
(MONDO_0030897)
|
Limited
|
|
|
EIF2S3
(HGNC:3267)
|
MEHMO syndrome
(MONDO_0010258)
|
Strong
|
|
|
AGO1
(HGNC:3262)
|
neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
(MONDO_0859531)
|
Moderate
|
|
|
MED11
(HGNC:32687)
|
neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
(MONDO_0957225)
|
Limited
|
|
|
SLCO1B7
(HGNC:32934)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
DUOXA2
(HGNC:32698)
|
familial thyroid dyshormonogenesis
(MONDO_0010132)
|
Strong
|
|
|
RNF207
(HGNC:32947)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
SMPD4
(HGNC:32949)
|
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
(MONDO_0032838)
|
Moderate
|
|
|
ABCA2
(HGNC:32)
|
intellectual developmental disorder with poor growth and with or without seizures or ataxia
(MONDO_0032930)
|
Strong
|
|
|
ELANE
(HGNC:3309)
|
neutropenia
(MONDO_0001475)
|
Strong
|
|
|
ELN
(HGNC:3327)
|
supravalvular aortic stenosis
(MONDO_0008504)
|
Strong
|
|
|
AGR2
(HGNC:328)
|
respiratory infections, recurrent, and failure to thrive with or without diarrhea
(MONDO_0859370)
|
Moderate
|
|
|
ELANE
(HGNC:3309)
|
cyclic hematopoiesis
(MONDO_0008090)
|
Definitive
|
|
|
EMD
(HGNC:3331)
|
X-linked Emery-Dreifuss muscular dystrophy
(MONDO_0010680)
|
Definitive
|
|
|
EMX2
(HGNC:3341)
|
schizencephaly
(MONDO_0010011)
|
Disputed
|
|
|
ENAM
(HGNC:3344)
|
amelogenesis imperfecta type 1
(MONDO_0015047)
|
Moderate
|
|
|
AGRN
(HGNC:329)
|
congenital myasthenic syndrome 8
(MONDO_0014052)
|
Strong
|
|
|
ATRIP
(HGNC:33499)
|
breast cancer
(MONDO_0007254)
|
Strong
|
|
|
ENG
(HGNC:3349)
|
telangiectasia, hereditary hemorrhagic, type 1
(MONDO_0008535)
|
Definitive
|
|
|
ELN
(HGNC:3327)
|
autosomal dominant cutis laxa
(MONDO_0019571)
|
Definitive
|
|
|
CCDC103
(HGNC:32700)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
ELF4
(HGNC:3319)
|
autoinflammatory syndrome, familial, X-linked, Behcet-like 2
(MONDO_0024770)
|
Strong
|
|
|
ENG
(HGNC:3349)
|
juvenile polyposis syndrome
(MONDO_0017380)
|
Limited
|
|
|
ENPP1
(HGNC:3356)
|
arterial calcification, generalized, of infancy, 1
(MONDO_0008817)
|
Strong
|
|
|
NDUFAF8
(HGNC:33551)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
ENPP1
(HGNC:3356)
|
autosomal recessive inherited pseudoxanthoma elasticum
(MONDO_0009925)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
hypophosphatemic rickets, autosomal recessive, 2
(MONDO_0013219)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
hypopigmentation-punctate palmoplantar keratoderma syndrome
(MONDO_0014227)
|
Strong
|
|
|
ENPP1
(HGNC:3356)
|
autosomal recessive hypophosphatemic rickets
(MONDO_0017324)
|
Definitive
|
|
|
PATL2
(HGNC:33630)
|
oocyte maturation defect 4
(MONDO_0021575)
|
Definitive
|
|
|
ENPP1
(HGNC:3356)
|
arterial calcification of infancy
(MONDO_0018870)
|
Definitive
|
|
|
MICOS13
(HGNC:33702)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
CFAP221
(HGNC:33720)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
EP300
(HGNC:3373)
|
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(MONDO_0013364)
|
Limited
|
|
|
EP300
(HGNC:3373)
|
Rubinstein-Taybi syndrome
(MONDO_0019188)
|
Strong
|
|
|
EPB41
(HGNC:3377)
|
hereditary elliptocytosis
(MONDO_0017319)
|
Moderate
|
|
|
EPB42
(HGNC:3381)
|
hereditary spherocytosis
(MONDO_0019350)
|
Strong
|
|
|
SDHAF1
(HGNC:33867)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
EPHB4
(HGNC:3395)
|
capillary malformation-arteriovenous malformation 2
(MONDO_0020785)
|
Strong
|
|
|
EPHB4
(HGNC:3395)
|
capillary malformation-arteriovenous malformation syndrome
(MONDO_0012016)
|
Definitive
|
|
|
EPHX2
(HGNC:3402)
|
hypercholesterolemia, familial, 1
(MONDO_0007750)
|
Limited
|
|
|
EPOR
(HGNC:3416)
|
primary familial polycythemia due to EPO receptor mutation
(MONDO_0007572)
|
Definitive
|
|
|
ERAL1
(HGNC:3424)
|
Perrault syndrome
(MONDO_0017312)
|
Strong
|
|
|
ERBB2
(HGNC:3430)
|
lung cancer
(MONDO_0008903)
|
Strong
|
|
|
ERBB2
(HGNC:3430)
|
Hirschsprung disease
(MONDO_0018309)
|
Moderate
|
|
|
ERBB3
(HGNC:3431)
|
Hirschsprung disease
(MONDO_0018309)
|
Moderate
|
|
|
ERBB4
(HGNC:3432)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
ERCC2
(HGNC:3434)
|
sarcoma
(MONDO_0005089)
|
Limited
|
|
|
ERCC1
(HGNC:3433)
|
COFS syndrome
(MONDO_0008926)
|
Limited
|
|
|
ERCC2
(HGNC:3434)
|
COFS syndrome
(MONDO_0008926)
|
Moderate
|
|
|
ERCC2
(HGNC:3434)
|
xeroderma pigmentosum group D
(MONDO_0010212)
|
Strong
|
|
|
ERCC2
(HGNC:3434)
|
xeroderma pigmentosum-Cockayne syndrome complex
(MONDO_0016354)
|
Strong
|
|
|
ERCC2
(HGNC:3434)
|
trichothiodystrophy
(MONDO_0018053)
|
Definitive
|
|
|
ERCC2
(HGNC:3434)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Definitive
|
|
|
ERCC3
(HGNC:3435)
|
xeroderma pigmentosum group B
(MONDO_0012531)
|
Moderate
|
|
|
ERCC3
(HGNC:3435)
|
xeroderma pigmentosum-Cockayne syndrome complex
(MONDO_0016354)
|
Strong
|
|
|
ERCC3
(HGNC:3435)
|
trichothiodystrophy
(MONDO_0018053)
|
Moderate
|
|
|
ERCC3
(HGNC:3435)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Strong
|
|
|
ERCC4
(HGNC:3436)
|
xeroderma pigmentosum group F
(MONDO_0010215)
|
Strong
|
|
|
ERCC4
(HGNC:3436)
|
XFE progeroid syndrome
(MONDO_0012590)
|
Limited
|
|
|
ERCC4
(HGNC:3436)
|
Fanconi anemia complementation group Q
(MONDO_0014108)
|
Strong
|
|
|
ERCC4
(HGNC:3436)
|
xeroderma pigmentosum-Cockayne syndrome complex
(MONDO_0016354)
|
Limited
|
|
|
ERCC4
(HGNC:3436)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
ERCC4
(HGNC:3436)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Definitive
|
|
|
ERCC5
(HGNC:3437)
|
COFS syndrome
(MONDO_0008926)
|
Strong
|
|
|
ERCC5
(HGNC:3437)
|
xeroderma pigmentosum-Cockayne syndrome complex
(MONDO_0016354)
|
Strong
|
|
|
ERCC5
(HGNC:3437)
|
xeroderma pigmentosum
(MONDO_0019600)
|
Definitive
|
|
|
PCARE
(HGNC:34383)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ERCC6
(HGNC:3438)
|
COFS syndrome
(MONDO_0008926)
|
Limited
|
|
|
ERCC6
(HGNC:3438)
|
UV-sensitive syndrome
(MONDO_0015797)
|
Limited
|
|
|
ERCC6
(HGNC:3438)
|
Cockayne syndrome type 2
(MONDO_0019570)
|
Definitive
|
|
|
ERCC8
(HGNC:3439)
|
UV-sensitive syndrome
(MONDO_0015797)
|
Limited
|
|
|
ERCC8
(HGNC:3439)
|
Cockayne syndrome type 1
(MONDO_0019569)
|
Definitive
|
|
|
ERCC8
(HGNC:3439)
|
Cockayne syndrome type 2
(MONDO_0019570)
|
Disputed
|
|
|
ERF
(HGNC:3444)
|
craniosynostosis 4
(MONDO_0010929)
|
Limited
|
|
|
ERF
(HGNC:3444)
|
Chitayat syndrome
(MONDO_0014956)
|
Strong
|
|
|
ESR2
(HGNC:3468)
|
familial medullary thyroid carcinoma
(MONDO_0007958)
|
Limited
|
|
|
ESR1
(HGNC:3467)
|
estrogen resistance syndrome
(MONDO_0014148)
|
Moderate
|
|
|
ESRRB
(HGNC:3473)
|
autosomal recessive nonsyndromic hearing loss 35
(MONDO_0012060)
|
Moderate
|
|
|
ETFB
(HGNC:3482)
|
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
|
Strong
|
|
|
ETS1
(HGNC:3488)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
ETS1
(HGNC:3488)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
AHR
(HGNC:348)
|
foveal hypoplasia
(MONDO_0044203)
|
Limited
|
|
|
ETV6
(HGNC:3495)
|
thrombocytopenia 5
(MONDO_0014536)
|
Definitive
|
|
|
EVC
(HGNC:3497)
|
acrofacial dysostosis, Weyers type
(MONDO_0008673)
|
Limited
|
|
|
MECOM
(HGNC:3498)
|
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
(MONDO_0011555)
|
Moderate
|
|
|
MECOM
(HGNC:3498)
|
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
(MONDO_0014758)
|
Strong
|
|
|
ABCA4
(HGNC:34)
|
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
|
Definitive
|
|
|
ABCA4
(HGNC:34)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
ABCA4
(HGNC:34)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
ABCA4
(HGNC:34)
|
Stargardt disease
(MONDO_0019353)
|
Definitive
|
|
|
EWSR1
(HGNC:3508)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
EXO1
(HGNC:3511)
|
Lynch syndrome
(MONDO_0005835)
|
Limited
|
|
|
BHLHA9
(HGNC:35126)
|
mesoaxial synostotic syndactyly with phalangeal reduction
(MONDO_0012271)
|
Strong
|
|
|
EXT1
(HGNC:3512)
|
chondrosarcoma
(MONDO_0008977)
|
Moderate
|
|
|
EXT2
(HGNC:3513)
|
seizures-scoliosis-macrocephaly syndrome
(MONDO_0014731)
|
Strong
|
|
|
EXTL3
(HGNC:3518)
|
immunoskeletal dysplasia with neurodevelopmental abnormalities
(MONDO_0044312)
|
Limited
|
|
|
EYA4
(HGNC:3522)
|
autosomal dominant nonsyndromic hearing loss 10
(MONDO_0011031)
|
Strong
|
|
|
EZH2
(HGNC:3527)
|
Weaver syndrome
(MONDO_0010193)
|
Definitive
|
|
|
F11
(HGNC:3529)
|
congenital factor XI deficiency
(MONDO_0012897)
|
Strong
|
|
|
F12
(HGNC:3530)
|
congenital factor XII deficiency
(MONDO_0009315)
|
Definitive
|
|
|
F12
(HGNC:3530)
|
hereditary angioedema type 3
(MONDO_0012526)
|
Moderate
|
|
|
F13B
(HGNC:3534)
|
factor XIII, b subunit, deficiency of
(MONDO_0013190)
|
Limited
|
|
|
F13B
(HGNC:3534)
|
congenital factor XIII deficiency
(MONDO_0018029)
|
Limited
|
|
|
F2
(HGNC:3535)
|
congenital prothrombin deficiency
(MONDO_0013361)
|
Moderate
|
|
|
F5
(HGNC:3542)
|
thrombophilia due to activated protein C resistance
(MONDO_0008560)
|
Definitive
|
|
|
F5
(HGNC:3542)
|
congenital factor V deficiency
(MONDO_0009210)
|
Definitive
|
|
|
F8
(HGNC:3546)
|
hemophilia A
(MONDO_0010602)
|
Definitive
|
|
|
F8
(HGNC:3546)
|
severe hemophilia A
(MONDO_0015719)
|
Definitive
|
|
|
F8
(HGNC:3546)
|
mild hemophilia A
(MONDO_0015721)
|
Definitive
|
|
|
F9
(HGNC:3551)
|
severe hemophilia B
(MONDO_0015715)
|
Strong
|
|
|
ACSL4
(HGNC:3571)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Moderate
|
|
|
BPTF
(HGNC:3581)
|
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
(MONDO_0060596)
|
Strong
|
|
|
FANCB
(HGNC:3583)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
FANCA
(HGNC:3582)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
FANCC
(HGNC:3584)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
FANCC
(HGNC:3584)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
FANCC
(HGNC:3584)
|
ovarian cancer
(MONDO_0008170)
|
Limited
|
|
|
FANCC
(HGNC:3584)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
FANCC
(HGNC:3584)
|
Fanconi anemia complementation group C
(MONDO_0009213)
|
Moderate
|
|
|
FANCC
(HGNC:3584)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
FANCD2
(HGNC:3585)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
FANCE
(HGNC:3586)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
FANCF
(HGNC:3587)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
FANCG
(HGNC:3588)
|
Fanconi anemia
(MONDO_0019391)
|
Definitive
|
|
|
AIP
(HGNC:358)
|
familial isolated pituitary adenoma
(MONDO_0017824)
|
Strong
|
|
|
AIP
(HGNC:358)
|
acromegaly
(MONDO_0019933)
|
Strong
|
|
|
AIP
(HGNC:358)
|
pituitary gigantism
(MONDO_0020479)
|
Strong
|
|
|
AIPL1
(HGNC:359)
|
Leber congenital amaurosis 4
(MONDO_0011458)
|
Strong
|
|
|
FBLN2
(HGNC:3601)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
AIPL1
(HGNC:359)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Definitive
|
|
|
FBN1
(HGNC:3603)
|
geleophysic dysplasia
(MONDO_0000127)
|
Strong
|
|
|
FBN1
(HGNC:3603)
|
Shprintzen-Goldberg syndrome
(MONDO_0008426)
|
Limited
|
|
|
FBN1
(HGNC:3603)
|
stiff skin syndrome
(MONDO_0008492)
|
Limited
|
|
|
FBN1
(HGNC:3603)
|
Acromicric dysplasia
(MONDO_0007055)
|
Strong
|
|
|
FBN1
(HGNC:3603)
|
Marfan syndrome
(MONDO_0007947)
|
Definitive
|
|
|
FBN1
(HGNC:3603)
|
progeroid and marfanoid aspect-lipodystrophy syndrome
(MONDO_0014831)
|
Limited
|
|
|
FBN1
(HGNC:3603)
|
familial thoracic aortic aneurysm and aortic dissection
(MONDO_0019625)
|
Strong
|
|
|
FBN1
(HGNC:3603)
|
isolated ectopia lentis
(MONDO_0015998)
|
Strong
|
|
|
FGA
(HGNC:3661)
|
congenital afibrinogenemia
(MONDO_0008737)
|
Definitive
|
|
|
FGA
(HGNC:3661)
|
familial dysfibrinogenemia
(MONDO_0014452)
|
Strong
|
|
|
FGA
(HGNC:3661)
|
congenital fibrinogen deficiency
(MONDO_0018060)
|
Definitive
|
|
|
FGA
(HGNC:3661)
|
AFib amyloidosis
(MONDO_0019733)
|
Moderate
|
|
|
FGB
(HGNC:3662)
|
congenital afibrinogenemia
(MONDO_0008737)
|
Strong
|
|
|
FGB
(HGNC:3662)
|
familial dysfibrinogenemia
(MONDO_0014452)
|
Strong
|
|
|
FGF10
(HGNC:3666)
|
LADD syndrome
(MONDO_0007872)
|
Strong
|
|
|
FGF10
(HGNC:3666)
|
aplasia of lacrimal and salivary glands
(MONDO_0008397)
|
Definitive
|
|
|
FGA
(HGNC:3661)
|
familial visceral amyloidosis
(MONDO_0007099)
|
Limited
|
|
|
FGF10
(HGNC:3666)
|
craniosynostosis
(MONDO_0015469)
|
Limited
|
|
|
FGF12
(HGNC:3668)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
FGF16
(HGNC:3672)
|
syndactyly type 8
(MONDO_0010669)
|
Moderate
|
|
|
FGF17
(HGNC:3673)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
FGF3
(HGNC:3681)
|
deafness with labyrinthine aplasia, microtia, and microdontia
(MONDO_0012541)
|
Strong
|
|
|
FGF8
(HGNC:3686)
|
holoprosencephaly
(MONDO_0016296)
|
Moderate
|
|
|
FGF8
(HGNC:3686)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
FGF8
(HGNC:3686)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
FKTN
(HGNC:3622)
|
dilated cardiomyopathy 1X
(MONDO_0012704)
|
Limited
|
|
|
FKTN
(HGNC:3622)
|
autosomal recessive limb-girdle muscular dystrophy type 2M
(MONDO_0012699)
|
Limited
|
|
|
FBN1
(HGNC:3603)
|
Weill-Marchesani syndrome
(MONDO_0018096)
|
Strong
|
|
|
AK2
(HGNC:362)
|
reticular dysgenesis
(MONDO_0009973)
|
Strong
|
|
|
FGA
(HGNC:3661)
|
thrombophilia
(MONDO_0002305)
|
Limited
|
|
|
FBN1
(HGNC:3603)
|
neonatal Marfan syndrome
(MONDO_0017309)
|
Definitive
|
|
|
FGFR1
(HGNC:3688)
|
Jackson-Weiss syndrome
(MONDO_0007400)
|
Limited
|
|
|
FGFR1
(HGNC:3688)
|
Pfeiffer syndrome
(MONDO_0007043)
|
Definitive
|
|
|
FGFR1
(HGNC:3688)
|
tooth agenesis
(MONDO_0005486)
|
Limited
|
|
|
FKTN
(HGNC:3622)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
FCGR2B
(HGNC:3618)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
FGFR1
(HGNC:3688)
|
osteoglophonic dwarfism
(MONDO_0008150)
|
Strong
|
|
|
FGF9
(HGNC:3687)
|
multiple synostoses syndrome
(MONDO_0017923)
|
Strong
|
|
|
FCGR3B
(HGNC:3620)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
AIRE
(HGNC:360)
|
autoimmune polyendocrine syndrome type 1
(MONDO_0009411)
|
Definitive
|
|
|
FGFR1
(HGNC:3688)
|
encephalocraniocutaneous lipomatosis
(MONDO_0013074)
|
Strong
|
|
|
FGFR1
(HGNC:3688)
|
septooptic dysplasia
(MONDO_0008428)
|
Limited
|
|
|
FGFR1
(HGNC:3688)
|
holoprosencephaly
(MONDO_0016296)
|
Moderate
|
|
|
FGFR1
(HGNC:3688)
|
Hartsfield-Bixler-Demyer syndrome
(MONDO_0014196)
|
Strong
|
|
|
FGFR1
(HGNC:3688)
|
Kallmann syndrome
(MONDO_0018800)
|
Definitive
|
|
|
FGFR1
(HGNC:3688)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Definitive
|
|
|
FGFR2
(HGNC:3689)
|
Saethre-Chotzen syndrome
(MONDO_0007042)
|
Limited
|
|
|
FGFR2
(HGNC:3689)
|
Apert syndrome
(MONDO_0007041)
|
Definitive
|
|
|
FGFR2
(HGNC:3689)
|
Beare-Stevenson cutis gyrata syndrome
(MONDO_0007412)
|
Strong
|
|
|
FGFR2
(HGNC:3689)
|
Pfeiffer syndrome
(MONDO_0007043)
|
Definitive
|
|
|
FGFR2
(HGNC:3689)
|
Crouzon syndrome
(MONDO_0007405)
|
Definitive
|
|
|
FGFR2
(HGNC:3689)
|
Antley-Bixler syndrome
(MONDO_0008803)
|
Strong
|
|
|
FGFR2
(HGNC:3689)
|
Pfeiffer syndrome type 2
(MONDO_0019660)
|
Moderate
|
|
|
FGFR2
(HGNC:3689)
|
LADD syndrome
(MONDO_0007872)
|
Moderate
|
|
|
FGFR2
(HGNC:3689)
|
Pfeiffer syndrome type 1
(MONDO_0019659)
|
Definitive
|
|
|
FGFR3
(HGNC:3690)
|
Achondroplasia
(MONDO_0007037)
|
Definitive
|
|
|
FGFR3
(HGNC:3690)
|
hypochondroplasia
(MONDO_0007793)
|
Definitive
|
|
|
FGFR2
(HGNC:3689)
|
Jackson-Weiss syndrome
(MONDO_0007400)
|
Strong
|
|
|
FGFR3
(HGNC:3690)
|
thanatophoric dysplasia type 1
(MONDO_0008546)
|
Definitive
|
|
|
FGFR3
(HGNC:3690)
|
LADD syndrome
(MONDO_0007872)
|
Moderate
|
|
|
FGFR3
(HGNC:3690)
|
Muenke syndrome
(MONDO_0011274)
|
Definitive
|
|
|
FGFR3
(HGNC:3690)
|
Crouzon syndrome-acanthosis nigricans syndrome
(MONDO_0012833)
|
Definitive
|
|
|
FGFR3
(HGNC:3690)
|
camptodactyly-tall stature-scoliosis-hearing loss syndrome
(MONDO_0012504)
|
Moderate
|
|
|
FGG
(HGNC:3694)
|
thrombophilia
(MONDO_0002305)
|
Limited
|
|
|
FGFR3
(HGNC:3690)
|
severe achondroplasia-developmental delay-acanthosis nigricans syndrome
(MONDO_0014658)
|
Strong
|
|
|
FGG
(HGNC:3694)
|
congenital fibrinogen deficiency
(MONDO_0018060)
|
Strong
|
|
|
FH
(HGNC:3700)
|
leiomyosarcoma
(MONDO_0005058)
|
Limited
|
|
|
FH
(HGNC:3700)
|
hereditary leiomyomatosis and renal cell cancer
(MONDO_0007888)
|
Definitive
|
|
|
FIBP
(HGNC:3705)
|
tall stature-intellectual disability-renal anomalies syndrome
(MONDO_0014918)
|
Limited
|
|
|
FH
(HGNC:3700)
|
fumaric aciduria
(MONDO_0011730)
|
Definitive
|
|
|
FHL1
(HGNC:3702)
|
X-linked myopathy with postural muscle atrophy
(MONDO_0010401)
|
Strong
|
|
|
ATP8B1
(HGNC:3706)
|
progressive familial intrahepatic cholestasis type 1
(MONDO_0008892)
|
Definitive
|
|
|
CRPPA
(HGNC:37276)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Definitive
|
|
|
KLLN
(HGNC:37212)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
TMEM231
(HGNC:37234)
|
Meckel syndrome
(MONDO_0018921)
|
Definitive
|
|
|
FLNA
(HGNC:3754)
|
otopalatodigital syndrome type 2
(MONDO_0010571)
|
Strong
|
|
|
FLNA
(HGNC:3754)
|
Melnick-Needles syndrome
(MONDO_0010650)
|
Definitive
|
|
|
FLNA
(HGNC:3754)
|
congenital short bowel syndrome
(MONDO_0014097)
|
Limited
|
|
|
FLNA
(HGNC:3754)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Definitive
|
|
|
FLNB
(HGNC:3755)
|
atelosteogenesis type I
(MONDO_0007167)
|
Strong
|
|
|
FLNA
(HGNC:3754)
|
frontometaphyseal dysplasia
(MONDO_0015942)
|
Definitive
|
|
|
FLNB
(HGNC:3755)
|
atelosteogenesis type III
(MONDO_0007168)
|
Strong
|
|
|
FLNB
(HGNC:3755)
|
Larsen syndrome
(MONDO_0007875)
|
Definitive
|
|
|
FLNC
(HGNC:3756)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
FLNB
(HGNC:3755)
|
Boomerang dysplasia
(MONDO_0007208)
|
Strong
|
|
|
FLNB
(HGNC:3755)
|
spondylocarpotarsal synostosis syndrome
(MONDO_0010094)
|
Definitive
|
|
|
FLNC
(HGNC:3756)
|
myofibrillar myopathy 5
(MONDO_0012289)
|
Strong
|
|
|
FMR1
(HGNC:3775)
|
fragile X-associated tremor/ataxia syndrome
(MONDO_0010382)
|
Definitive
|
|
|
FLRT3
(HGNC:3762)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
FMR1
(HGNC:3775)
|
fragile X syndrome
(MONDO_0010383)
|
Definitive
|
|
|
FOLR1
(HGNC:3791)
|
neurodegenerative syndrome due to cerebral folate transport deficiency
(MONDO_0013110)
|
Definitive
|
|
|
AFF2
(HGNC:3776)
|
FRAXE intellectual disability
(MONDO_0010659)
|
Limited
|
|
|
AKAP9
(HGNC:379)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
FMR1
(HGNC:3775)
|
premature ovarian failure 1
(MONDO_0010706)
|
Moderate
|
|
|
FLT4
(HGNC:3767)
|
tetralogy of fallot
(MONDO_0008542)
|
Strong
|
|
|
FOXC1
(HGNC:3800)
|
aniridia
(MONDO_0019172)
|
Limited
|
|
|
FOXC1
(HGNC:3800)
|
Peters anomaly
(MONDO_0011414)
|
Limited
|
|
|
FOXC1
(HGNC:3800)
|
Axenfeld-Rieger syndrome
(MONDO_0019187)
|
Definitive
|
|
|
FOXC1
(HGNC:3800)
|
Rieger anomaly
(MONDO_0019628)
|
Strong
|
|
|
FOXD3
(HGNC:3804)
|
aniridia
(MONDO_0019172)
|
Limited
|
|
|
FOXC1
(HGNC:3800)
|
Axenfeld anomaly
(MONDO_0020368)
|
Definitive
|
|
|
FOXD3
(HGNC:3804)
|
anterior segment dysgenesis
(MONDO_0019503)
|
Limited
|
|
|
FOXE1
(HGNC:3806)
|
Bamforth-Lazarus syndrome
(MONDO_0009437)
|
Moderate
|
|
|
FOXE3
(HGNC:3808)
|
cataract
(MONDO_0005129)
|
Moderate
|
|
|
FOXE3
(HGNC:3808)
|
congenital primary aphakia
(MONDO_0012456)
|
Limited
|
|
|
FOXE3
(HGNC:3808)
|
Peters anomaly
(MONDO_0011414)
|
Moderate
|
|
|
FOXI1
(HGNC:3815)
|
hearing loss disorder
(MONDO_0005365)
|
Limited
|
|
|
FOXE3
(HGNC:3808)
|
anterior segment dysgenesis
(MONDO_0019503)
|
Strong
|
|
|
FOXI1
(HGNC:3815)
|
Pendred syndrome
(MONDO_0010134)
|
Limited
|
|
|
FOXI1
(HGNC:3815)
|
autosomal recessive nonsyndromic hearing loss 4
(MONDO_0010933)
|
Limited
|
|
|
FOXJ1
(HGNC:3816)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
FOXP1
(HGNC:3823)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
AKT1
(HGNC:391)
|
Cowden disease
(MONDO_0016063)
|
Limited
|
|
|
AKT1
(HGNC:391)
|
Proteus syndrome
(MONDO_0008318)
|
Definitive
|
|
|
AKT2
(HGNC:392)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
AKT3
(HGNC:393)
|
microcephaly
(MONDO_0001149)
|
Moderate
|
|
|
MTOR
(HGNC:3942)
|
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
(MONDO_0014716)
|
Definitive
|
|
|
PRSS56
(HGNC:39433)
|
nanophthalmia
(MONDO_0005514)
|
Strong
|
|
|
ALAD
(HGNC:395)
|
porphyria due to ALA dehydratase deficiency
(MONDO_0013000)
|
Strong
|
|
|
FSCN2
(HGNC:3960)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
FSHB
(HGNC:3964)
|
hypogonadotropic hypogonadism 24 without anosmia
(MONDO_0009239)
|
Moderate
|
|
|
FSHR
(HGNC:3969)
|
ovarian hyperstimulation syndrome
(MONDO_0011972)
|
Strong
|
|
|
FTCD
(HGNC:3974)
|
formiminoglutamic aciduria
(MONDO_0009240)
|
Strong
|
|
|
PET100
(HGNC:40038)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
FUS
(HGNC:4010)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Definitive
|
|
|
FUS
(HGNC:4010)
|
amyotrophic lateral sclerosis type 6
(MONDO_0011951)
|
Strong
|
|
|
FUS
(HGNC:4010)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Definitive
|
|
|
KDSR
(HGNC:4021)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Moderate
|
|
|
FXR1
(HGNC:4023)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
ALDH3A2
(HGNC:403)
|
Sjogren-Larsson syndrome
(MONDO_0010031)
|
Definitive
|
|
|
FZD4
(HGNC:4042)
|
persistent hyperplastic primary vitreous
(MONDO_0019631)
|
Limited
|
|
|
XRCC6
(HGNC:4055)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
FZD2
(HGNC:4040)
|
autosomal dominant omodysplasia
(MONDO_0008123)
|
Moderate
|
|
|
G6PC1
(HGNC:4056)
|
glycogen storage disease due to glucose-6-phosphatase deficiency type IA
(MONDO_0009287)
|
Definitive
|
|
|
GAA
(HGNC:4065)
|
glycogen storage disease II
(MONDO_0009290)
|
Definitive
|
|
|
G6PD
(HGNC:4057)
|
G6PD deficiency
(MONDO_0005775)
|
Definitive
|
|
|
GABRA1
(HGNC:4075)
|
juvenile myoclonic epilepsy
(MONDO_0009696)
|
Limited
|
|
|
GABRA1
(HGNC:4075)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
GABRB1
(HGNC:4081)
|
developmental and epileptic encephalopathy, 45
(MONDO_0014942)
|
Moderate
|
|
|
GABRB3
(HGNC:4083)
|
childhood absence epilepsy
(MONDO_0010826)
|
Moderate
|
|
|
GABRB3
(HGNC:4083)
|
developmental and epileptic encephalopathy, 43
(MONDO_0014921)
|
Strong
|
|
|
GABRB3
(HGNC:4083)
|
Lennox-Gastaut syndrome
(MONDO_0016532)
|
Strong
|
|
|
GABRB3
(HGNC:4083)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
GABRD
(HGNC:4084)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
GABRG2
(HGNC:4087)
|
epilepsy
(MONDO_0005027)
|
Strong
|
|
|
GABRG2
(HGNC:4087)
|
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
|
Moderate
|
|
|
GAD1
(HGNC:4092)
|
developmental and epileptic encephalopathy 89
(MONDO_0030856)
|
Limited
|
|
|
GABRG2
(HGNC:4087)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Moderate
|
|
|
GALE
(HGNC:4116)
|
galactose epimerase deficiency
(MONDO_0009257)
|
Strong
|
|
|
GALK1
(HGNC:4118)
|
galactokinase deficiency
(MONDO_0009255)
|
Definitive
|
|
|
B4GALNT1
(HGNC:4117)
|
hereditary spastic paraplegia 26
(MONDO_0012213)
|
Strong
|
|
|
GANAB
(HGNC:4138)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Moderate
|
|
|
GAN
(HGNC:4137)
|
giant axonal neuropathy 1
(MONDO_0009749)
|
Strong
|
|
|
ALDOA
(HGNC:414)
|
glycogen storage disease due to aldolase A deficiency
(MONDO_0012747)
|
Limited
|
|
|
GARS1
(HGNC:4162)
|
Charcot-Marie-Tooth disease type 2D
(MONDO_0011091)
|
Definitive
|
|
|
GAS1
(HGNC:4165)
|
holoprosencephaly
(MONDO_0016296)
|
Limited
|
|
|
GAS8
(HGNC:4166)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
GAS2
(HGNC:4167)
|
hearing loss disorder
(MONDO_0005365)
|
Strong
|
|
|
GATA1
(HGNC:4170)
|
cutaneous porphyria
(MONDO_0009902)
|
Limited
|
|
|
GATA1
(HGNC:4170)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
GATA1
(HGNC:4170)
|
GATA1-Related X-Linked Cytopenia
(MONDO_0100089)
|
Definitive
|
|
|
GATA2
(HGNC:4171)
|
deafness-lymphedema-leukemia syndrome
(MONDO_0013540)
|
Definitive
|
|
|
GATA2
(HGNC:4171)
|
monocytopenia with susceptibility to infections
(MONDO_0013607)
|
Definitive
|
|
|
GATA2
(HGNC:4171)
|
myelodysplastic syndrome
(MONDO_0018881)
|
Strong
|
|
|
GATA3
(HGNC:4172)
|
hypoparathyroidism-deafness-renal disease syndrome
(MONDO_0007797)
|
Definitive
|
|
|
GATA4
(HGNC:4173)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
GATA4
(HGNC:4173)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
GATA4
(HGNC:4173)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
GATA6
(HGNC:4174)
|
tetralogy of fallot
(MONDO_0008542)
|
Strong
|
|
|
GATA6
(HGNC:4174)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Definitive
|
|
|
GATA6
(HGNC:4174)
|
conotruncal heart malformations
(MONDO_0016581)
|
Strong
|
|
|
GATM
(HGNC:4175)
|
primary Fanconi syndrome
(MONDO_0007600)
|
Moderate
|
|
|
GATM
(HGNC:4175)
|
Fanconi renotubular syndrome 1
(MONDO_0024525)
|
Limited
|
|
|
GATM
(HGNC:4175)
|
AGAT deficiency
(MONDO_0012996)
|
Definitive
|
|
|
GBA1
(HGNC:4177)
|
Parkinson disease
(MONDO_0005180)
|
Strong
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease type I
(MONDO_0009265)
|
Definitive
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease type II
(MONDO_0009266)
|
Strong
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
(MONDO_0009268)
|
Limited
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease perinatal lethal
(MONDO_0011945)
|
Moderate
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease
(MONDO_0018150)
|
Definitive
|
|
|
GBA1
(HGNC:4177)
|
Gaucher disease type III
(MONDO_0009267)
|
Definitive
|
|
|
GCH1
(HGNC:4193)
|
GTP cyclohydrolase I deficiency
(MONDO_0100184)
|
Strong
|
|
|
GCGR
(HGNC:4192)
|
GCGR-related hyperglucagonemia
(MONDO_0018582)
|
Strong
|
|
|
GCK
(HGNC:4195)
|
maturity-onset diabetes of the young type 2
(MONDO_0007453)
|
Definitive
|
|
|
GCK
(HGNC:4195)
|
monogenic diabetes
(MONDO_0015967)
|
Definitive
|
|
|
GCK
(HGNC:4195)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Definitive
|
|
|
GCK
(HGNC:4195)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Definitive
|
|
|
GCM2
(HGNC:4198)
|
familial isolated hyperparathyroidism
(MONDO_0015027)
|
Strong
|
|
|
OPN1MW
(HGNC:4206)
|
blue cone monochromacy
(MONDO_0010563)
|
Definitive
|
|
|
GCSH
(HGNC:4208)
|
glycine encephalopathy
(MONDO_0011612)
|
Moderate
|
|
|
GDF1
(HGNC:4214)
|
right atrial isomerism
(MONDO_0008832)
|
Strong
|
|
|
GDF2
(HGNC:4217)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
GDF2
(HGNC:4217)
|
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
|
Strong
|
|
|
GDF5
(HGNC:4220)
|
Angel-shaped phalango-epiphyseal dysplasia
(MONDO_0007114)
|
Limited
|
|
|
GDF5
(HGNC:4220)
|
brachydactyly type A1
(MONDO_0007215)
|
Moderate
|
|
|
GDF5
(HGNC:4220)
|
brachydactyly type A2
(MONDO_0007216)
|
Moderate
|
|
|
GDF5
(HGNC:4220)
|
brachydactyly type C
(MONDO_0007221)
|
Strong
|
|
|
GDF5
(HGNC:4220)
|
proximal symphalangism
(MONDO_0008511)
|
Strong
|
|
|
GDF5
(HGNC:4220)
|
acromesomelic dysplasia 2C, Hunter-Thompson type
(MONDO_0008717)
|
Limited
|
|
|
GDF5
(HGNC:4220)
|
acromesomelic dysplasia 2B
(MONDO_0009231)
|
Strong
|
|
|
GDF6
(HGNC:4221)
|
microphthalmia
(MONDO_0021129)
|
Limited
|
|
|
GDF6
(HGNC:4221)
|
multiple synostoses syndrome 4
(MONDO_0054752)
|
Moderate
|
|
|
GDI1
(HGNC:4226)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Limited
|
|
|
GFI1B
(HGNC:4238)
|
platelet storage pool deficiency
(MONDO_0008495)
|
Moderate
|
|
|
GGCX
(HGNC:4247)
|
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
(MONDO_0012570)
|
Moderate
|
|
|
GGCX
(HGNC:4247)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
GH1
(HGNC:4261)
|
isolated growth hormone deficiency type II
(MONDO_0008250)
|
Definitive
|
|
|
GJA1
(HGNC:4274)
|
autosomal dominant palmoplantar keratoderma and congenital alopecia
(MONDO_0007083)
|
Moderate
|
|
|
GJA1
(HGNC:4274)
|
oculodentodigital dysplasia
(MONDO_0008111)
|
Definitive
|
|
|
GJA1
(HGNC:4274)
|
Hallermann-Streiff syndrome
(MONDO_0009318)
|
Limited
|
|
|
GJA1
(HGNC:4274)
|
craniometaphyseal dysplasia
(MONDO_0015465)
|
Moderate
|
|
|
GJA1
(HGNC:4274)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Limited
|
|
|
GJA5
(HGNC:4279)
|
familial atrial fibrillation
(MONDO_0018054)
|
Moderate
|
|
|
GJB1
(HGNC:4283)
|
Charcot-Marie-Tooth disease X-linked dominant 1
(MONDO_0010549)
|
Definitive
|
|
|
GJB2
(HGNC:4284)
|
palmoplantar keratoderma-deafness syndrome
(MONDO_0007852)
|
Limited
|
|
|
GJB2
(HGNC:4284)
|
keratoderma hereditarium mutilans
(MONDO_0007422)
|
Strong
|
|
|
GJB2
(HGNC:4284)
|
autosomal dominant keratitis-ichthyosis-hearing loss syndrome
(MONDO_0007850)
|
Strong
|
|
|
GJB2
(HGNC:4284)
|
Bart-Pumphrey syndrome
(MONDO_0007866)
|
Limited
|
|
|
GJB2
(HGNC:4284)
|
KID syndrome
(MONDO_0018781)
|
Strong
|
|
|
GJB2
(HGNC:4284)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Definitive
|
|
|
GJB3
(HGNC:4285)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Limited
|
|
|
GJB4
(HGNC:4286)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Strong
|
|
|
GJB6
(HGNC:4288)
|
KID syndrome
(MONDO_0018781)
|
Limited
|
|
|
GLA
(HGNC:4296)
|
Fabry disease
(MONDO_0010526)
|
Definitive
|
|
|
GLB1
(HGNC:4298)
|
GM1 gangliosidosis type 1
(MONDO_0009260)
|
Strong
|
|
|
GLB1
(HGNC:4298)
|
mucopolysaccharidosis type 4B
(MONDO_0009660)
|
Strong
|
|
|
GLB1
(HGNC:4298)
|
GM1 gangliosidosis
(MONDO_0018149)
|
Definitive
|
|
|
ABCB11
(HGNC:42)
|
progressive familial intrahepatic cholestasis type 2
(MONDO_0011156)
|
Definitive
|
|
|
ABCB11
(HGNC:42)
|
benign recurrent intrahepatic cholestasis type 2
(MONDO_0011559)
|
Strong
|
|
|
ALOX12B
(HGNC:430)
|
self-healing collodion baby
(MONDO_0017267)
|
Strong
|
|
|
ALOX12B
(HGNC:430)
|
lamellar ichthyosis
(MONDO_0017778)
|
Definitive
|
|
|
GCLC
(HGNC:4311)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
ALOX12B
(HGNC:430)
|
congenital non-bullous ichthyosiform erythroderma
(MONDO_0019306)
|
Definitive
|
|
|
GCLC
(HGNC:4311)
|
gamma-glutamylcysteine synthetase deficiency
(MONDO_0009259)
|
Strong
|
|
|
GLE1
(HGNC:4315)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Moderate
|
|
|
GLE1
(HGNC:4315)
|
lethal congenital contracture syndrome 1
(MONDO_0009670)
|
Moderate
|
|
|
GLE1
(HGNC:4315)
|
lethal arthrogryposis-anterior horn cell disease syndrome
(MONDO_0012750)
|
Moderate
|
|
|
GLI1
(HGNC:4317)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Strong
|
|
|
GLI2
(HGNC:4318)
|
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
(MONDO_0014369)
|
Limited
|
|
|
GLI2
(HGNC:4318)
|
holoprosencephaly
(MONDO_0016296)
|
Limited
|
|
|
GLI3
(HGNC:4319)
|
Pallister-Hall syndrome
(MONDO_0007804)
|
Definitive
|
|
|
GLI3
(HGNC:4319)
|
polysyndactyly 4
(MONDO_0008272)
|
Limited
|
|
|
GLI3
(HGNC:4319)
|
Greig cephalopolysyndactyly syndrome
(MONDO_0008287)
|
Definitive
|
|
|
GLI3
(HGNC:4319)
|
acrocallosal syndrome
(MONDO_0008708)
|
Limited
|
|
|
BICRA
(HGNC:4332)
|
Coffin-Siris syndrome 12
(MONDO_0025699)
|
Limited
|
|
|
GLRB
(HGNC:4329)
|
hereditary hyperekplexia
(MONDO_0021022)
|
Strong
|
|
|
GM2A
(HGNC:4367)
|
Tay-Sachs disease AB variant
(MONDO_0010099)
|
Moderate
|
|
|
GNA11
(HGNC:4379)
|
familial hypocalciuric hypercalcemia 2
(MONDO_0007792)
|
Strong
|
|
|
GNA11
(HGNC:4379)
|
autosomal dominant hypocalcemia 2
(MONDO_0014146)
|
Strong
|
|
|
GNA11
(HGNC:4379)
|
autosomal dominant hypocalcemia
(MONDO_0018543)
|
Strong
|
|
|
GNA11
(HGNC:4379)
|
congenital hemangioma
(MONDO_0018715)
|
Moderate
|
|
|
GNAI3
(HGNC:4387)
|
auriculocondylar syndrome 1
(MONDO_0011234)
|
Definitive
|
|
|
GNAL
(HGNC:4388)
|
dystonia 25
(MONDO_0014033)
|
Strong
|
|
|
GNAO1
(HGNC:4389)
|
movement disorder
(MONDO_0005395)
|
Definitive
|
|
|
GNAO1
(HGNC:4389)
|
developmental and epileptic encephalopathy, 17
(MONDO_0014199)
|
Strong
|
|
|
GNAO1
(HGNC:4389)
|
neurodevelopmental disorder with involuntary movements
(MONDO_0060491)
|
Strong
|
|
|
GNAO1
(HGNC:4389)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
ALPL
(HGNC:438)
|
perinatal lethal hypophosphatasia
(MONDO_0016605)
|
Definitive
|
|
|
ALPL
(HGNC:438)
|
odontohypophosphatasia
(MONDO_0016607)
|
Limited
|
|
|
GNAQ
(HGNC:4390)
|
congenital hemangioma
(MONDO_0018715)
|
Limited
|
|
|
GNAQ
(HGNC:4390)
|
Sturge-Weber syndrome
(MONDO_0008501)
|
Definitive
|
|
|
GNAS
(HGNC:4392)
|
pseudohypoparathyroidism type 1A
(MONDO_0007078)
|
Strong
|
|
|
GNAS
(HGNC:4392)
|
progressive osseous heteroplasia
(MONDO_0008153)
|
Strong
|
|
|
GNAS
(HGNC:4392)
|
pseudohypoparathyroidism type 1B
(MONDO_0011301)
|
Strong
|
|
|
GNAS
(HGNC:4392)
|
pseudohypoparathyroidism type 1C
(MONDO_0012911)
|
Moderate
|
|
|
GNAS
(HGNC:4392)
|
pseudopseudohypoparathyroidism
(MONDO_0012912)
|
Definitive
|
|
|
GNAS
(HGNC:4392)
|
McCune-Albright syndrome
(MONDO_0018919)
|
Definitive
|
|
|
GNAT2
(HGNC:4394)
|
achromatopsia
(MONDO_0018852)
|
Strong
|
|
|
GNB3
(HGNC:4400)
|
congenital stationary night blindness
(MONDO_0016293)
|
Strong
|
|
|
GNMT
(HGNC:4415)
|
glycine N-methyltransferase deficiency
(MONDO_0011698)
|
Limited
|
|
|
GNB5
(HGNC:4401)
|
gnb5-related intellectual disability-cardiac arrhythmia syndrome
(MONDO_0014953)
|
Moderate
|
|
|
GNPAT
(HGNC:4416)
|
rhizomelic chondrodysplasia punctata type 2
(MONDO_0009112)
|
Strong
|
|
|
GNRH1
(HGNC:4419)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
GNRHR
(HGNC:4421)
|
hypogonadotropic hypogonadism 7 with or without anosmia
(MONDO_0007794)
|
Definitive
|
|
|
GOSR2
(HGNC:4431)
|
progressive myoclonic epilepsy type 6
(MONDO_0013526)
|
Limited
|
|
|
GP1BA
(HGNC:4439)
|
autosomal dominant macrothrombocytopenia
(MONDO_0015372)
|
Strong
|
|
|
ALS2
(HGNC:443)
|
amyotrophic lateral sclerosis type 2, juvenile
(MONDO_0008780)
|
Strong
|
|
|
ALS2
(HGNC:443)
|
juvenile primary lateral sclerosis
(MONDO_0011663)
|
Definitive
|
|
|
ALS2
(HGNC:443)
|
infantile-onset ascending hereditary spastic paralysis
(MONDO_0011797)
|
Definitive
|
|
|
GP1BB
(HGNC:4440)
|
Bernard-Soulier syndrome
(MONDO_0009276)
|
Definitive
|
|
|
ALS2
(HGNC:443)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Strong
|
|
|
GPC6
(HGNC:4454)
|
autosomal recessive omodysplasia
(MONDO_0009779)
|
Strong
|
|
|
GPC4
(HGNC:4452)
|
Keipert syndrome
(MONDO_0009720)
|
Strong
|
|
|
GPAA1
(HGNC:4446)
|
glycosylphosphatidylinositol biosynthesis defect 15
(MONDO_0060627)
|
Moderate
|
|
|
SETX
(HGNC:445)
|
amyotrophic lateral sclerosis type 4
(MONDO_0011223)
|
Strong
|
|
|
SETX
(HGNC:445)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Limited
|
|
|
ADGRG1
(HGNC:4512)
|
bilateral frontoparietal polymicrogyria
(MONDO_0011738)
|
Strong
|
|
|
GPR68
(HGNC:4519)
|
amelogenesis imperfecta type 2
(MONDO_0015048)
|
Limited
|
|
|
GRHPR
(HGNC:4570)
|
primary hyperoxaluria type 2
(MONDO_0009824)
|
Definitive
|
|
|
GRID2
(HGNC:4576)
|
autosomal recessive spinocerebellar ataxia 18
(MONDO_0014530)
|
Strong
|
|
|
GRIK2
(HGNC:4580)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Limited
|
|
|
ALX3
(HGNC:449)
|
frontorhiny
(MONDO_0007636)
|
Definitive
|
|
|
GABBR2
(HGNC:4507)
|
neurodevelopmental disorder with poor language and loss of hand skills
(MONDO_0060659)
|
Limited
|
|
|
ALX4
(HGNC:450)
|
parietal foramina 2
(MONDO_0012309)
|
Moderate
|
|
|
KISS1R
(HGNC:4510)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|
|
AMACR
(HGNC:451)
|
alpha-methylacyl-CoA racemase deficiency
(MONDO_0013681)
|
Definitive
|
|
|
GRIN2A
(HGNC:4585)
|
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
|
Strong
|
|
|
GRIN2A
(HGNC:4585)
|
Landau-Kleffner syndrome
(MONDO_0009509)
|
Moderate
|
|
|
GRIN2A
(HGNC:4585)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
GRIN2C
(HGNC:4587)
|
Alzheimer disease
(MONDO_0004975)
|
Moderate
|
|
|
GRIN2B
(HGNC:4586)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
GRM1
(HGNC:4593)
|
spinocerebellar ataxia 44
(MONDO_0033479)
|
Limited
|
|
|
GRM1
(HGNC:4593)
|
autosomal recessive spinocerebellar ataxia 13
(MONDO_0013905)
|
Strong
|
|
|
ABCB4
(HGNC:45)
|
low phospholipid associated cholelithiasis
(MONDO_0010939)
|
Strong
|
|
|
ABCB4
(HGNC:45)
|
progressive familial intrahepatic cholestasis type 3
(MONDO_0011214)
|
Strong
|
|
|
GRM6
(HGNC:4598)
|
congenital stationary night blindness
(MONDO_0016293)
|
Definitive
|
|
|
GRN
(HGNC:4601)
|
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
(MONDO_0011842)
|
Definitive
|
|
|
GRN
(HGNC:4601)
|
neuronal ceroid lipofuscinosis 11
(MONDO_0013866)
|
Strong
|
|
|
GSK3B
(HGNC:4617)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
GRN
(HGNC:4601)
|
neuronal ceroid lipofuscinosis
(MONDO_0016295)
|
Definitive
|
|
|
GSS
(HGNC:4624)
|
glutathione synthetase deficiency with 5-oxoprolinuria
(MONDO_0009947)
|
Definitive
|
|
|
GSTM3
(HGNC:4635)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
GSTZ1
(HGNC:4643)
|
maleylacetoacetate isomerase deficiency
(MONDO_0060527)
|
Disputed
|
|
|
AMHR2
(HGNC:465)
|
persistent Mullerian duct syndrome
(MONDO_0009857)
|
Strong
|
|
|
GUCA1A
(HGNC:4678)
|
cone dystrophy
(MONDO_0000455)
|
Definitive
|
|
|
GUCA1A
(HGNC:4678)
|
central areolar choroidal dystrophy
(MONDO_0008982)
|
Moderate
|
|
|
GUCA1B
(HGNC:4679)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
GUCA1A
(HGNC:4678)
|
cone-rod dystrophy
(MONDO_0015993)
|
Definitive
|
|
|
GUCY2C
(HGNC:4688)
|
congenital sodium diarrhea
(MONDO_0015170)
|
Moderate
|
|
|
AMMECR1
(HGNC:467)
|
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
(MONDO_0010263)
|
Strong
|
|
|
GUCY2D
(HGNC:4689)
|
Leber congenital amaurosis 1
(MONDO_0008764)
|
Definitive
|
|
|
GUCY2D
(HGNC:4689)
|
central areolar choroidal dystrophy
(MONDO_0008982)
|
Limited
|
|
|
GUCY2D
(HGNC:4689)
|
cone-rod dystrophy 6
(MONDO_0011143)
|
Moderate
|
|
|
GUCY2D
(HGNC:4689)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
GYG1
(HGNC:4699)
|
glycogen storage disease XV
(MONDO_0013291)
|
Strong
|
|
|
AMPD1
(HGNC:468)
|
adenosine monophosphate deaminase deficiency
(MONDO_0013028)
|
Strong
|
|
|
GYG1
(HGNC:4699)
|
polyglucosan body myopathy type 2
(MONDO_0014526)
|
Strong
|
|
|
AMPD2
(HGNC:469)
|
pontocerebellar hypoplasia type 9
(MONDO_0014351)
|
Strong
|
|
|
GYS1
(HGNC:4706)
|
glycogen storage disease due to muscle and heart glycogen synthase deficiency
(MONDO_0012693)
|
Moderate
|
|
|
GYS2
(HGNC:4707)
|
glycogen storage disorder due to hepatic glycogen synthase deficiency
(MONDO_0009414)
|
Moderate
|
|
|
H1-4
(HGNC:4718)
|
Rahman syndrome
(MONDO_0044323)
|
Strong
|
|
|
AMT
(HGNC:473)
|
glycine encephalopathy
(MONDO_0011612)
|
Definitive
|
|
|
MACROH2A1
(HGNC:4740)
|
brachydactyly-elbow wrist dysplasia syndrome
(MONDO_0008520)
|
Limited
|
|
|
H6PD
(HGNC:4795)
|
cortisone reductase deficiency
(MONDO_0000193)
|
Strong
|
|
|
H6PD
(HGNC:4795)
|
cortisone reductase deficiency 1
(MONDO_0011503)
|
Strong
|
|
|
HAAO
(HGNC:4796)
|
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
|
Strong
|
|
|
HADH
(HGNC:4799)
|
3-hydroxyacyl-CoA dehydrogenase deficiency
(MONDO_0017715)
|
Limited
|
|
|
ABCB6
(HGNC:47)
|
dyschromatosis universalis hereditaria
(MONDO_0000736)
|
Definitive
|
|
|
ABCB6
(HGNC:47)
|
familial pseudohyperkalemia
(MONDO_0012204)
|
Strong
|
|
|
HSD17B10
(HGNC:4800)
|
HSD10 mitochondrial disease
(MONDO_0010327)
|
Definitive
|
|
|
HADHA
(HGNC:4801)
|
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
(MONDO_0012173)
|
Strong
|
|
|
HAL
(HGNC:4806)
|
histidinemia
(MONDO_0009345)
|
Strong
|
|
|
HAND1
(HGNC:4807)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
HBA1
(HGNC:4823)
|
alpha thalassemia spectrum
(MONDO_0011399)
|
Definitive
|
|
|
HBA1
(HGNC:4823)
|
hemoglobin H disease
(MONDO_0013512)
|
Limited
|
|
|
HBA1
(HGNC:4823)
|
Hb Bart's hydrops fetalis
(MONDO_0015579)
|
Limited
|
|
|
HBA2
(HGNC:4824)
|
alpha thalassemia spectrum
(MONDO_0011399)
|
Definitive
|
|
|
HBA2
(HGNC:4824)
|
hemoglobin H disease
(MONDO_0013512)
|
Moderate
|
|
|
HBA2
(HGNC:4824)
|
hemoglobin M disease
(MONDO_0018023)
|
Limited
|
|
|
HBA2
(HGNC:4824)
|
Hb Bart's hydrops fetalis
(MONDO_0015579)
|
Definitive
|
|
|
HBB
(HGNC:4827)
|
dominant beta-thalassemia
(MONDO_0011381)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
hemoglobin E disease
(MONDO_0016243)
|
Limited
|
|
|
HBB
(HGNC:4827)
|
sickle cell anemia
(MONDO_0011382)
|
Definitive
|
|
|
HBB
(HGNC:4827)
|
beta-thalassemia major
(MONDO_0016486)
|
Definitive
|
|
|
HBB
(HGNC:4827)
|
beta-thalassemia intermedia
(MONDO_0016487)
|
Definitive
|
|
|
HBB
(HGNC:4827)
|
delta-beta-thalassemia
(MONDO_0016489)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
hemoglobin E-beta-thalassemia syndrome
(MONDO_0016491)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
sickle cell-hemoglobin E disease syndrome
(MONDO_0016671)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
sickle cell-hemoglobin c disease syndrome
(MONDO_0016669)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
hemoglobin M disease
(MONDO_0018023)
|
Limited
|
|
|
HBB
(HGNC:4827)
|
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
(MONDO_0018749)
|
Moderate
|
|
|
HBB
(HGNC:4827)
|
beta thalassemia
(MONDO_0019402)
|
Definitive
|
|
|
HBD
(HGNC:4829)
|
delta-beta-thalassemia
(MONDO_0016489)
|
Limited
|
|
|
HCFC1
(HGNC:4839)
|
X-linked intellectual disability
(MONDO_0100284)
|
Strong
|
|
|
HCN1
(HGNC:4845)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Strong
|
|
|
ANG
(HGNC:483)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
ANGPT1
(HGNC:484)
|
primary congenital glaucoma
(MONDO_0000365)
|
Moderate
|
|
|
HTT
(HGNC:4851)
|
Lopes-Maciel-Rodan syndrome
(MONDO_0054573)
|
Limited
|
|
|
HFE
(HGNC:4886)
|
hemochromatosis type 1
(MONDO_0021001)
|
Definitive
|
|
|
ABCB7
(HGNC:48)
|
X-linked sideroblastic anemia with ataxia
(MONDO_0010524)
|
Strong
|
|
|
HESX1
(HGNC:4877)
|
septooptic dysplasia
(MONDO_0008428)
|
Strong
|
|
|
HIBADH
(HGNC:4907)
|
3-hydroxyisobutyric aciduria
(MONDO_0009371)
|
Moderate
|
|
|
HDC
(HGNC:4855)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
HESX1
(HGNC:4877)
|
Kallmann syndrome
(MONDO_0018800)
|
Limited
|
|
|
HESX1
(HGNC:4877)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
HIBCH
(HGNC:4908)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
CFH
(HGNC:4883)
|
dense deposit disease
(MONDO_0019736)
|
Limited
|
|
|
CFH
(HGNC:4883)
|
basal laminar drusen
(MONDO_0007472)
|
Strong
|
|
|
HFE
(HGNC:4886)
|
cystic fibrosis
(MONDO_0009061)
|
Limited
|
|
|
HINT1
(HGNC:4912)
|
Gamstorp-Wohlfart syndrome
(MONDO_0007646)
|
Strong
|
|
|
HINT1
(HGNC:4912)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Definitive
|
|
|
HIRA
(HGNC:4916)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
ANGPTL3
(HGNC:491)
|
familial hypobetalipoproteinemia 2
(MONDO_0011505)
|
Moderate
|
|
|
HK1
(HGNC:4922)
|
Charcot-Marie-Tooth disease type 4G
(MONDO_0011534)
|
Strong
|
|
|
HK1
(HGNC:4922)
|
neurodevelopmental disorder with visual defects and brain anomalies
(MONDO_0032807)
|
Moderate
|
|
|
SLC39A7
(HGNC:4927)
|
agammaglobulinemia
(MONDO_0015977)
|
Strong
|
|
|
ANK2
(HGNC:493)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
ANK1
(HGNC:492)
|
hereditary spherocytosis type 1
(MONDO_0008447)
|
Definitive
|
|
|
ANK2
(HGNC:493)
|
cardiac arrhythmia, ankyrin-B-related
(MONDO_0010958)
|
Strong
|
|
|
ANK2
(HGNC:493)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Disputed
|
|
|
ANK2
(HGNC:493)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
ANK2
(HGNC:493)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
ANK3
(HGNC:494)
|
intellectual disability
(MONDO_0001071)
|
Moderate
|
|
|
HLA-DRB1
(HGNC:4948)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Definitive
|
|
|
RIPK4
(HGNC:496)
|
ectodermal dysplasia syndrome
(MONDO_0019287)
|
Moderate
|
|
|
MNX1
(HGNC:4979)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
MNX1
(HGNC:4979)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Limited
|
|
|
HMGA2
(HGNC:5009)
|
Silver-Russell syndrome 5
(MONDO_0020795)
|
Strong
|
|
|
HMGCS2
(HGNC:5008)
|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
(MONDO_0011614)
|
Definitive
|
|
|
HMGA1
(HGNC:5010)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Moderate
|
|
|
HMOX1
(HGNC:5013)
|
chronic obstructive pulmonary disease
(MONDO_0005002)
|
Limited
|
|
|
HMOX1
(HGNC:5013)
|
heme oxygenase 1 deficiency
(MONDO_0013536)
|
Limited
|
|
|
HMX1
(HGNC:5017)
|
oculoauricular syndrome
(MONDO_0012802)
|
Moderate
|
|
|
HNF4A
(HGNC:5024)
|
maturity-onset diabetes of the young type 1
(MONDO_0007452)
|
Strong
|
|
|
HNF4A
(HGNC:5024)
|
monogenic diabetes
(MONDO_0015967)
|
Definitive
|
|
|
HNF4A
(HGNC:5024)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Strong
|
|
|
HNMT
(HGNC:5028)
|
intellectual disability, autosomal recessive 51
(MONDO_0014759)
|
Strong
|
|
|
HNRNPA1
(HGNC:5031)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
HNRNPA2B1
(HGNC:5033)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
HNRNPH1
(HGNC:5041)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
HNRNPH2
(HGNC:5042)
|
intellectual disability, X-linked, syndromic, Bain type
(MONDO_0010512)
|
Strong
|
|
|
HOXA1
(HGNC:5099)
|
human HOXA1 syndromes
(MONDO_0011099)
|
Strong
|
|
|
HOXA1
(HGNC:5099)
|
Bosley-Salih-Alorainy syndrome
(MONDO_0019075)
|
Strong
|
|
|
HOXA2
(HGNC:5103)
|
microtia
(MONDO_0010920)
|
Strong
|
|
|
HOXB13
(HGNC:5112)
|
prostate cancer
(MONDO_0008315)
|
Definitive
|
|
|
HOXD13
(HGNC:5136)
|
synpolydactyly type 1
(MONDO_0008513)
|
Definitive
|
|
|
HOXD10
(HGNC:5133)
|
congenital vertical talus
(MONDO_0008652)
|
Strong
|
|
|
HOXD13
(HGNC:5136)
|
brachydactyly type E
(MONDO_0019677)
|
Moderate
|
|
|
HPCA
(HGNC:5144)
|
torsion dystonia 2
(MONDO_0009141)
|
Strong
|
|
|
HPGD
(HGNC:5154)
|
cranio-osteoarthropathy
(MONDO_0015466)
|
Moderate
|
|
|
HPGD
(HGNC:5154)
|
isolated congenital digital clubbing
(MONDO_0007343)
|
Limited
|
|
|
HR
(HGNC:5172)
|
alopecia universalis congenita
(MONDO_0008757)
|
Limited
|
|
|
HPGD
(HGNC:5154)
|
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
(MONDO_0024546)
|
Strong
|
|
|
HR
(HGNC:5172)
|
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
|
Definitive
|
|
|
HR
(HGNC:5172)
|
hypotrichosis 4
(MONDO_0100522)
|
Limited
|
|
|
HRAS
(HGNC:5173)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Moderate
|
|
|
HRAS
(HGNC:5173)
|
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
|
Limited
|
|
|
HRAS
(HGNC:5173)
|
Costello syndrome
(MONDO_0009026)
|
Definitive
|
|
|
ABCC1
(HGNC:51)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Limited
|
|
|
HS6ST1
(HGNC:5201)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Moderate
|
|
|
HS6ST1
(HGNC:5201)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
HSD11B1
(HGNC:5208)
|
cortisone reductase deficiency
(MONDO_0000193)
|
Moderate
|
|
|
HSD17B3
(HGNC:5212)
|
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
(MONDO_0009916)
|
Definitive
|
|
|
HSD3B2
(HGNC:5218)
|
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
(MONDO_0008727)
|
Definitive
|
|
|
HSF4
(HGNC:5227)
|
cataract 5 multiple types
(MONDO_0007290)
|
Strong
|
|
|
HSPA9
(HGNC:5244)
|
autosomal recessive sideroblastic anemia
(MONDO_0016828)
|
Limited
|
|
|
HSPB1
(HGNC:5246)
|
distal hereditary motor neuropathy type 2
(MONDO_0015352)
|
Strong
|
|
|
IARS1
(HGNC:5330)
|
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
(MONDO_0014911)
|
Limited
|
|
|
HSPG2
(HGNC:5273)
|
Silverman-Handmaker type dyssegmental dysplasia
(MONDO_0009140)
|
Moderate
|
|
|
HSPG2
(HGNC:5273)
|
Schwartz-Jampel syndrome type 1
(MONDO_0100435)
|
Definitive
|
|
|
NOD2
(HGNC:5331)
|
Blau syndrome
(MONDO_0008523)
|
Definitive
|
|
|
ICOS
(HGNC:5351)
|
common variable immunodeficiency
(MONDO_0015517)
|
Definitive
|
|
|
ID2
(HGNC:5361)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
ANXA11
(HGNC:535)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
IDH1
(HGNC:5382)
|
Maffucci syndrome
(MONDO_0013808)
|
Definitive
|
|
|
IDH2
(HGNC:5383)
|
D-2-hydroxyglutaric aciduria
(MONDO_0010924)
|
Strong
|
|
|
IDH3B
(HGNC:5385)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
IDH3G
(HGNC:5386)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
IDUA
(HGNC:5391)
|
Scheie syndrome
(MONDO_0011760)
|
Strong
|
|
|
IDUA
(HGNC:5391)
|
Hurler-Scheie syndrome
(MONDO_0011759)
|
Definitive
|
|
|
IFNAR1
(HGNC:5432)
|
immunodeficiency 106, susceptibility to viral infections
(MONDO_0030970)
|
Strong
|
|
|
ABCC2
(HGNC:53)
|
Dubin-Johnson syndrome
(MONDO_0009380)
|
Strong
|
|
|
IFRD1
(HGNC:5456)
|
spinocerebellar ataxia type 18
(MONDO_0011834)
|
Limited
|
|
|
IGF1
(HGNC:5464)
|
growth delay due to insulin-like growth factor type 1 deficiency
(MONDO_0012110)
|
Moderate
|
|
|
IGF1R
(HGNC:5465)
|
growth delay due to insulin-like growth factor I resistance
(MONDO_0010038)
|
Strong
|
|
|
IGFALS
(HGNC:5468)
|
short stature due to primary acid-labile subunit deficiency
(MONDO_0014420)
|
Moderate
|
|
|
IGFBP7
(HGNC:5476)
|
familial retinal arterial macroaneurysm
(MONDO_0013640)
|
Limited
|
|
|
IGHMBP2
(HGNC:5542)
|
Charcot-Marie-Tooth disease axonal type 2S
(MONDO_0014511)
|
Strong
|
|
|
AP1B1
(HGNC:554)
|
ichthyosiform erythroderma, corneal involvement, and hearing loss
(MONDO_0009440)
|
Moderate
|
|
|
AP1B1
(HGNC:554)
|
MEDNIK syndrome
(MONDO_0012251)
|
Strong
|
|
|
AP1S2
(HGNC:560)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
AP1S2
(HGNC:560)
|
syndromic X-linked intellectual disability 5
(MONDO_0010574)
|
Strong
|
|
|
AP1S2
(HGNC:560)
|
fried syndrome
(MONDO_0019428)
|
Strong
|
|
|
AP2S1
(HGNC:565)
|
familial hypocalciuric hypercalcemia 3
(MONDO_0010926)
|
Definitive
|
|
|
RBPJ
(HGNC:5724)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Moderate
|
|
|
AP4E1
(HGNC:573)
|
hereditary spastic paraplegia 51
(MONDO_0013401)
|
Limited
|
|
|
AP4B1
(HGNC:572)
|
hereditary spastic paraplegia 47
(MONDO_0013551)
|
Strong
|
|
|
AP4M1
(HGNC:574)
|
hereditary spastic paraplegia 50
(MONDO_0013048)
|
Strong
|
|
|
AP4S1
(HGNC:575)
|
hereditary spastic paraplegia 52
(MONDO_0013552)
|
Strong
|
|
|
ABCC6
(HGNC:57)
|
arterial calcification, generalized, of infancy, 2
(MONDO_0013768)
|
Limited
|
|
|
APC
(HGNC:583)
|
sarcoma
(MONDO_0005089)
|
Limited
|
|
|
APC
(HGNC:583)
|
desmoid tumor
(MONDO_0007608)
|
Strong
|
|
|
APC
(HGNC:583)
|
Cenani-Lenz syndactyly syndrome
(MONDO_0008931)
|
Limited
|
|
|
APEX1
(HGNC:587)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
ATG12
(HGNC:588)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
APC
(HGNC:583)
|
gastric adenocarcinoma and proximal polyposis of the stomach
(MONDO_0017790)
|
Strong
|
|
|
IGSF1
(HGNC:5948)
|
X-linked central congenital hypothyroidism with late-onset testicular enlargement
(MONDO_0010475)
|
Definitive
|
|
|
CADM1
(HGNC:5951)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
IHH
(HGNC:5956)
|
brachydactyly type A1
(MONDO_0007215)
|
Definitive
|
|
|
IHH
(HGNC:5956)
|
acrocapitofemoral dysplasia
(MONDO_0011907)
|
Strong
|
|
|
ELP1
(HGNC:5959)
|
Riley-Day syndrome
(MONDO_0009131)
|
Definitive
|
|
|
IKBKG
(HGNC:5961)
|
ectodermal dysplasia and immune deficiency
(MONDO_0010293)
|
Definitive
|
|
|
IL10
(HGNC:5962)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
IL12RB1
(HGNC:5971)
|
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
(MONDO_0013955)
|
Definitive
|
|
|
IL11RA
(HGNC:5967)
|
craniosynostosis and dental anomalies
(MONDO_0013615)
|
Definitive
|
|
|
ABCC8
(HGNC:59)
|
diabetes mellitus
(MONDO_0005015)
|
Strong
|
|
|
IL17RA
(HGNC:5985)
|
chronic mucocutaneous candidiasis
(MONDO_0015279)
|
Definitive
|
|
|
ABCC8
(HGNC:59)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
ABCC8
(HGNC:59)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
ABCC8
(HGNC:59)
|
monogenic diabetes
(MONDO_0015967)
|
Strong
|
|
|
ABCC8
(HGNC:59)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Definitive
|
|
|
ABCC8
(HGNC:59)
|
transient neonatal diabetes mellitus
(MONDO_0020525)
|
Definitive
|
|
|
ABCC8
(HGNC:59)
|
familial hyperinsulinism
(MONDO_0017182)
|
Definitive
|
|
|
IL1RN
(HGNC:6000)
|
sterile multifocal osteomyelitis with periostitis and pustulosis
(MONDO_0013021)
|
Strong
|
|
|
ABCC8
(HGNC:59)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Definitive
|
|
|
IL2RA
(HGNC:6008)
|
immunodeficiency due to CD25 deficiency
(MONDO_0011664)
|
Limited
|
|
|
IL21
(HGNC:6005)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
APOA1
(HGNC:600)
|
hypoalphalipoproteinemia, primary, 2
(MONDO_0032766)
|
Limited
|
|
|
IL2RA
(HGNC:6008)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Limited
|
|
|
IL7R
(HGNC:6024)
|
Omenn syndrome
(MONDO_0011338)
|
Limited
|
|
|
APOB
(HGNC:603)
|
hypercholesterolemia, autosomal dominant, type B
(MONDO_0007751)
|
Definitive
|
|
|
IL2RG
(HGNC:6010)
|
Omenn syndrome
(MONDO_0011338)
|
Limited
|
|
|
APOB
(HGNC:603)
|
homozygous familial hypercholesterolemia
(MONDO_0018328)
|
Limited
|
|
|
IMPDH1
(HGNC:6052)
|
Leber congenital amaurosis 11
(MONDO_0013454)
|
Limited
|
|
|
IMPDH1
(HGNC:6052)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Limited
|
|
|
IMPDH1
(HGNC:6052)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Strong
|
|
|
APOA1
(HGNC:600)
|
AApoAI amyloidosis
(MONDO_0019731)
|
Limited
|
|
|
IMPDH1
(HGNC:6052)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
IMPG1
(HGNC:6055)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
IMPG1
(HGNC:6055)
|
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
|
Strong
|
|
|
ING1
(HGNC:6062)
|
head and neck squamous cell carcinoma
(MONDO_0010150)
|
Limited
|
|
|
INS
(HGNC:6081)
|
maturity-onset diabetes of the young type 10
(MONDO_0013240)
|
Moderate
|
|
|
INPPL1
(HGNC:6080)
|
opsismodysplasia
(MONDO_0009785)
|
Strong
|
|
|
INS
(HGNC:6081)
|
hyperproinsulinemia
(MONDO_0014535)
|
Limited
|
|
|
INS
(HGNC:6081)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Strong
|
|
|
INS
(HGNC:6081)
|
transient neonatal diabetes mellitus
(MONDO_0020525)
|
Limited
|
|
|
INS
(HGNC:6081)
|
monogenic diabetes
(MONDO_0015967)
|
Definitive
|
|
|
INSL3
(HGNC:6086)
|
cryptorchidism
(MONDO_0009047)
|
Moderate
|
|
|
INS
(HGNC:6081)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Definitive
|
|
|
INSR
(HGNC:6091)
|
Rabson-Mendenhall syndrome
(MONDO_0009874)
|
Definitive
|
|
|
INSR
(HGNC:6091)
|
Donohue syndrome
(MONDO_0009517)
|
Strong
|
|
|
INSR
(HGNC:6091)
|
insulin-resistance syndrome type A
(MONDO_0012520)
|
Strong
|
|
|
APOC2
(HGNC:609)
|
familial apolipoprotein C-II deficiency
(MONDO_0008810)
|
Moderate
|
|
|
ABCC9
(HGNC:60)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
ABCC9
(HGNC:60)
|
Brugada syndrome
(MONDO_0015263)
|
Moderate
|
|
|
FOXP3
(HGNC:6106)
|
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
(MONDO_0010580)
|
Definitive
|
|
|
PDX1
(HGNC:6107)
|
pancreatic agenesis
(MONDO_0009832)
|
Definitive
|
|
|
PDX1
(HGNC:6107)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Limited
|
|
|
PDX1
(HGNC:6107)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
IRAK1
(HGNC:6112)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
IRF5
(HGNC:6120)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Definitive
|
|
|
IRF6
(HGNC:6121)
|
tooth agenesis
(MONDO_0005486)
|
Disputed
|
|
|
IRF6
(HGNC:6121)
|
van der Woude syndrome 1
(MONDO_0007333)
|
Definitive
|
|
|
IRX4
(HGNC:6129)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
ITGA3
(HGNC:6139)
|
epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
(MONDO_0013881)
|
Strong
|
|
|
APOE
(HGNC:613)
|
lipoprotein glomerulopathy
(MONDO_0012725)
|
Strong
|
|
|
APOE
(HGNC:613)
|
hyperlipoproteinemia type 3
(MONDO_0018473)
|
Definitive
|
|
|
ITGA7
(HGNC:6143)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Limited
|
|
|
ITGA8
(HGNC:6144)
|
bilateral renal agenesis
(MONDO_0015986)
|
Strong
|
|
|
ITGAM
(HGNC:6149)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
ITGB3
(HGNC:6156)
|
Glanzmann thrombasthenia
(MONDO_0100326)
|
Definitive
|
|
|
ITGB4
(HGNC:6158)
|
aplasia cutis congenita
(MONDO_0007145)
|
Limited
|
|
|
ITGB4
(HGNC:6158)
|
junctional epidermolysis bullosa with pyloric atresia
(MONDO_0009183)
|
Definitive
|
|
|
ITK
(HGNC:6171)
|
lymphoproliferative syndrome 1
(MONDO_0013081)
|
Strong
|
|
|
ITK
(HGNC:6171)
|
lymphoproliferative syndrome
(MONDO_0016537)
|
Definitive
|
|
|
ITM2B
(HGNC:6174)
|
ADan amyloidosis
(MONDO_0007297)
|
Limited
|
|
|
ITGB4
(HGNC:6158)
|
epidermolysis bullosa simplex
(MONDO_0017610)
|
Limited
|
|
|
EIF6
(HGNC:6159)
|
Shwachman-Diamond syndrome
(MONDO_0009833)
|
Limited
|
|
|
STT3A
(HGNC:6172)
|
STT3A-congenital disorder of glycosylation
(MONDO_0014270)
|
Strong
|
|
|
ITPA
(HGNC:6176)
|
developmental and epileptic encephalopathy, 35
(MONDO_0014719)
|
Strong
|
|
|
ITM2B
(HGNC:6174)
|
ABri amyloidosis
(MONDO_0008306)
|
Limited
|
|
|
ITPR1
(HGNC:6180)
|
spinocerebellar ataxia type 15/16
(MONDO_0011694)
|
Definitive
|
|
|
ITPA
(HGNC:6176)
|
inosine triphosphatase deficiency
(MONDO_0013461)
|
Strong
|
|
|
ITPR1
(HGNC:6180)
|
spinocerebellar ataxia type 29
(MONDO_0007298)
|
Strong
|
|
|
ITPR1
(HGNC:6180)
|
aniridia-cerebellar ataxia-intellectual disability syndrome
(MONDO_0008795)
|
Strong
|
|
|
JAK3
(HGNC:6193)
|
T-B+ severe combined immunodeficiency due to JAK3 deficiency
(MONDO_0010938)
|
Definitive
|
|
|
ABCD1
(HGNC:61)
|
adrenomyeloneuropathy
(MONDO_0015339)
|
Definitive
|
|
|
JAG1
(HGNC:6188)
|
tetralogy of fallot
(MONDO_0008542)
|
Limited
|
|
|
APOL2
(HGNC:619)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
JAG1
(HGNC:6188)
|
Alagille syndrome due to a JAG1 point mutation
(MONDO_0016862)
|
Definitive
|
|
|
JAK2
(HGNC:6192)
|
familial thrombocytosis
(MONDO_0019111)
|
Moderate
|
|
|
ABCD1
(HGNC:61)
|
adrenoleukodystrophy
(MONDO_0018544)
|
Definitive
|
|
|
JUP
(HGNC:6207)
|
Naxos disease
(MONDO_0011017)
|
Definitive
|
|
|
ABCD1
(HGNC:61)
|
Hirschsprung disease
(MONDO_0018309)
|
Limited
|
|
|
ABCD1
(HGNC:61)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
KCNE5
(HGNC:6241)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
KCNE3
(HGNC:6243)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
KCND3
(HGNC:6239)
|
spinocerebellar ataxia type 19/22
(MONDO_0011819)
|
Definitive
|
|
|
KCNH2
(HGNC:6251)
|
short QT syndrome
(MONDO_0000453)
|
Definitive
|
|
|
KCNC1
(HGNC:6233)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Definitive
|
|
|
KCNC2
(HGNC:6234)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
KCNE1
(HGNC:6240)
|
atrial fibrillation
(MONDO_0004981)
|
Limited
|
|
|
KCNE1
(HGNC:6240)
|
long QT syndrome 5
(MONDO_0013372)
|
Definitive
|
|
|
APP
(HGNC:620)
|
ABeta amyloidosis, dutch type
(MONDO_0015033)
|
Moderate
|
|
|
APP
(HGNC:620)
|
cerebral amyloid angiopathy, APP-related
(MONDO_0011583)
|
Limited
|
|
|
KCNA1
(HGNC:6218)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
KCNA2
(HGNC:6220)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
KCNH2
(HGNC:6251)
|
long QT syndrome 2
(MONDO_0013367)
|
Definitive
|
|
|
KCNH2
(HGNC:6251)
|
long QT syndrome
(MONDO_0002442)
|
Definitive
|
|
|
KCNH2
(HGNC:6251)
|
Brugada syndrome
(MONDO_0015263)
|
Moderate
|
|
|
KCNE2
(HGNC:6242)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
KCNJ10
(HGNC:6256)
|
EAST syndrome
(MONDO_0013005)
|
Definitive
|
|
|
KCNC1
(HGNC:6233)
|
progressive myoclonic epilepsy type 7
(MONDO_0014521)
|
Strong
|
|
|
KCNJ10
(HGNC:6256)
|
Pendred syndrome
(MONDO_0010134)
|
Limited
|
|
|
KCNJ11
(HGNC:6257)
|
maturity-onset diabetes of the young type 13
(MONDO_0014589)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
monogenic diabetes
(MONDO_0015967)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
DEND syndrome
(MONDO_0019207)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
intermediate DEND syndrome
(MONDO_0020569)
|
Strong
|
|
|
KCNJ11
(HGNC:6257)
|
permanent neonatal diabetes mellitus
(MONDO_0100164)
|
Definitive
|
|
|
KCNJ11
(HGNC:6257)
|
transient neonatal diabetes mellitus
(MONDO_0020525)
|
Strong
|
|
|
KCNJ13
(HGNC:6259)
|
snowflake vitreoretinal degeneration
(MONDO_0008663)
|
Strong
|
|
|
KCNJ13
(HGNC:6259)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Strong
|
|
|
KCNJ16
(HGNC:6262)
|
hypokalemic tubulopathy and deafness
(MONDO_0859167)
|
Strong
|
|
|
KCNJ2
(HGNC:6263)
|
Andersen-Tawil syndrome
(MONDO_0008222)
|
Definitive
|
|
|
KCNJ2
(HGNC:6263)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Disputed
|
|
|
KCNJ2
(HGNC:6263)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
KCNJ2
(HGNC:6263)
|
short QT syndrome type 3
(MONDO_0012314)
|
Limited
|
|
|
KCNJ2
(HGNC:6263)
|
short QT syndrome
(MONDO_0000453)
|
Moderate
|
|
|
KCNJ5
(HGNC:6266)
|
Andersen-Tawil syndrome
(MONDO_0008222)
|
Limited
|
|
|
KCNJ5
(HGNC:6266)
|
familial hyperaldosteronism type III
(MONDO_0013359)
|
Strong
|
|
|
KCNJ5
(HGNC:6266)
|
long QT syndrome
(MONDO_0002442)
|
Limited
|
|
|
KCNJ6
(HGNC:6267)
|
Keppen-Lubinsky syndrome
(MONDO_0013572)
|
Strong
|
|
|
KCNJ8
(HGNC:6269)
|
hypertrichotic osteochondrodysplasia Cantu type
(MONDO_0009406)
|
Limited
|
|
|
KCNJ5
(HGNC:6266)
|
long QT syndrome 13
(MONDO_0013279)
|
Limited
|
|
|
KCNJ8
(HGNC:6269)
|
Brugada syndrome
(MONDO_0015263)
|
Moderate
|
|
|
KCNK3
(HGNC:6278)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
KCNK3
(HGNC:6278)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Moderate
|
|
|
KCNMA1
(HGNC:6284)
|
Liang-Wang syndrome
(MONDO_0032886)
|
Moderate
|
|
|
KCNK4
(HGNC:6279)
|
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
(MONDO_0032714)
|
Strong
|
|
|
KCNK9
(HGNC:6283)
|
Birk-Barel syndrome
(MONDO_0012856)
|
Strong
|
|
|
KCNN3
(HGNC:6292)
|
Zimmermann-Laband syndrome
(MONDO_0000200)
|
Strong
|
|
|
KCNN4
(HGNC:6293)
|
dehydrated hereditary stomatocytosis
(MONDO_0017910)
|
Strong
|
|
|
KCNQ1
(HGNC:6294)
|
Jervell and Lange-Nielsen syndrome
(MONDO_0002441)
|
Definitive
|
|
|
KCNQ1
(HGNC:6294)
|
short QT syndrome
(MONDO_0000453)
|
Strong
|
|
|
KCNQ1
(HGNC:6294)
|
long QT syndrome
(MONDO_0002442)
|
Definitive
|
|
|
KCNQ1
(HGNC:6294)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
KCNQ1
(HGNC:6294)
|
familial atrial fibrillation
(MONDO_0018054)
|
Limited
|
|
|
KCNQ1
(HGNC:6294)
|
long QT syndrome 1
(MONDO_0100316)
|
Definitive
|
|
|
KCNQ2
(HGNC:6296)
|
seizures, benign familial neonatal, 2
(MONDO_0007366)
|
Strong
|
|
|
KCNQ2
(HGNC:6296)
|
developmental and epileptic encephalopathy, 7
(MONDO_0013387)
|
Strong
|
|
|
KCNQ2
(HGNC:6296)
|
malignant migrating partial seizures of infancy
(MONDO_0017385)
|
Limited
|
|
|
KCNQ2
(HGNC:6296)
|
benign neonatal seizures
(MONDO_0016027)
|
Definitive
|
|
|
KCNQ2
(HGNC:6296)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Moderate
|
|
|
KCNQ3
(HGNC:6297)
|
benign familial infantile epilepsy
(MONDO_0017615)
|
Limited
|
|
|
KCNQ3
(HGNC:6297)
|
seizures, benign familial neonatal, 2
(MONDO_0007366)
|
Strong
|
|
|
KCNQ4
(HGNC:6298)
|
hearing loss disorder
(MONDO_0005365)
|
Strong
|
|
|
KDR
(HGNC:6307)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
KCNQ4
(HGNC:6298)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
KERA
(HGNC:6309)
|
cornea plana
(MONDO_0000733)
|
Definitive
|
|
|
KIF1C
(HGNC:6317)
|
spastic ataxia 2
(MONDO_0012651)
|
Moderate
|
|
|
KIF2A
(HGNC:6318)
|
complex cortical dysplasia with other brain malformations 3
(MONDO_0014170)
|
Limited
|
|
|
KIF3B
(HGNC:6320)
|
ciliopathy
(MONDO_0005308)
|
Strong
|
|
|
AQP1
(HGNC:633)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
KISS1
(HGNC:6341)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Limited
|
|
|
KIT
(HGNC:6342)
|
mastocytosis
(MONDO_0007950)
|
Definitive
|
|
|
KIT
(HGNC:6342)
|
gastrointestinal stromal tumor
(MONDO_0011719)
|
Definitive
|
|
|
KIT
(HGNC:6342)
|
piebaldism
(MONDO_0008244)
|
Definitive
|
|
|
KIT
(HGNC:6342)
|
cutaneous mastocytosis
(MONDO_0019023)
|
Moderate
|
|
|
KITLG
(HGNC:6343)
|
hyperpigmentation with or without hypopigmentation, familial progressive
(MONDO_0007771)
|
Limited
|
|
|
KITLG
(HGNC:6343)
|
Waardenburg syndrome type 2
(MONDO_0019517)
|
Limited
|
|
|
KITLG
(HGNC:6343)
|
familial progressive hyper- and hypopigmentation
(MONDO_0017239)
|
Definitive
|
|
|
KLF1
(HGNC:6345)
|
congenital dyserythropoietic anemia type 4
(MONDO_0013355)
|
Strong
|
|
|
KLF1
(HGNC:6345)
|
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
(MONDO_0018749)
|
Strong
|
|
|
KLF2
(HGNC:6347)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
KLHL3
(HGNC:6354)
|
pseudohypoaldosteronism type 2D
(MONDO_0013781)
|
Definitive
|
|
|
KLK1
(HGNC:6357)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Moderate
|
|
|
AQP4
(HGNC:637)
|
neuromyelitis optica
(MONDO_0019100)
|
Limited
|
|
|
KIF11
(HGNC:6388)
|
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
(MONDO_0007918)
|
Definitive
|
|
|
KNG1
(HGNC:6383)
|
congenital high-molecular-weight kininogen deficiency
(MONDO_0009234)
|
Definitive
|
|
|
KIF22
(HGNC:6391)
|
spondyloepimetaphyseal dysplasia with multiple dislocations
(MONDO_0011335)
|
Strong
|
|
|
KRAS
(HGNC:6407)
|
linear nevus sebaceous syndrome
(MONDO_0008097)
|
Strong
|
|
|
KRAS
(HGNC:6407)
|
Costello syndrome
(MONDO_0009026)
|
Limited
|
|
|
KRAS
(HGNC:6407)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Limited
|
|
|
KRAS
(HGNC:6407)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
KRT1
(HGNC:6412)
|
epidermolytic ichthyosis
(MONDO_0007239)
|
Strong
|
|
|
MAFB
(HGNC:6408)
|
Duane retraction syndrome
(MONDO_0007473)
|
Strong
|
|
|
KRT1
(HGNC:6412)
|
ichthyosis hystrix of Curth-Macklin
(MONDO_0007808)
|
Limited
|
|
|
KRT1
(HGNC:6412)
|
annular epidermolytic ichthyosis
(MONDO_0011870)
|
Moderate
|
|
|
KRT1
(HGNC:6412)
|
diffuse nonepidermolytic palmoplantar keratoderma
(MONDO_0010962)
|
Limited
|
|
|
KRT1
(HGNC:6412)
|
congenital reticular ichthyosiform erythroderma
(MONDO_0012208)
|
Limited
|
|
|
KRT1
(HGNC:6412)
|
striate palmoplantar keratoderma
(MONDO_0018865)
|
Moderate
|
|
|
KRT10
(HGNC:6413)
|
congenital reticular ichthyosiform erythroderma
(MONDO_0012208)
|
Limited
|
|
|
KRT10
(HGNC:6413)
|
annular epidermolytic ichthyosis
(MONDO_0011870)
|
Limited
|
|
|
KRT10
(HGNC:6413)
|
autosomal recessive epidermolytic ichthyosis
(MONDO_0044742)
|
Moderate
|
|
|
KRT14
(HGNC:6416)
|
dermatopathia pigmentosa reticularis
(MONDO_0007445)
|
Moderate
|
|
|
KRT14
(HGNC:6416)
|
epidermolysis bullosa simplex 2F, with mottled pigmentation
(MONDO_0007556)
|
Limited
|
|
|
KRT14
(HGNC:6416)
|
epidermolysis bullosa simplex 1A, generalized severe
(MONDO_0007550)
|
Strong
|
|
|
KRT14
(HGNC:6416)
|
Naegeli-Franceschetti-Jadassohn syndrome
(MONDO_0008059)
|
Definitive
|
|
|
KRT16
(HGNC:6423)
|
pachyonychia congenita 1
(MONDO_0008173)
|
Strong
|
|
|
KRT17
(HGNC:6427)
|
pachyonychia congenita 2
(MONDO_0008174)
|
Strong
|
|
|
KRT17
(HGNC:6427)
|
sebocystomatosis
(MONDO_0008485)
|
Strong
|
|
|
KRT18
(HGNC:6430)
|
cirrhosis, familial
(MONDO_0007329)
|
Limited
|
|
|
KRT3
(HGNC:6440)
|
Meesmann corneal dystrophy
(MONDO_0007379)
|
Strong
|
|
|
KRT5
(HGNC:6442)
|
epidermolysis bullosa simplex 2F, with mottled pigmentation
(MONDO_0007556)
|
Strong
|
|
|
KRT5
(HGNC:6442)
|
Dowling-Degos disease
(MONDO_0008371)
|
Strong
|
|
|
KRT5
(HGNC:6442)
|
epidermolysis bullosa simplex 2E, with migratory circinate erythema
(MONDO_0012258)
|
Limited
|
|
|
AR
(HGNC:644)
|
partial androgen insensitivity syndrome
(MONDO_0010720)
|
Definitive
|
|
|
AR
(HGNC:644)
|
Kennedy disease
(MONDO_0010735)
|
Definitive
|
|
|
AR
(HGNC:644)
|
androgen insensitivity syndrome
(MONDO_0019154)
|
Definitive
|
|
|
KRT81
(HGNC:6458)
|
monilethrix
(MONDO_0008009)
|
Limited
|
|
|
AR
(HGNC:644)
|
complete androgen insensitivity syndrome
(MONDO_0021023)
|
Definitive
|
|
|
KRT83
(HGNC:6460)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Limited
|
|
|
KYNU GENE
(HGNC:6469)
|
congenital vertebral-cardiac-renal anomalies syndrome
(MONDO_0020831)
|
Strong
|
|
|
L1CAM
(HGNC:6470)
|
MASA syndrome
(MONDO_0010559)
|
Definitive
|
|
|
L1CAM
(HGNC:6470)
|
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
(MONDO_0010611)
|
Definitive
|
|
|
AFF3
(HGNC:6473)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
L1CAM
(HGNC:6470)
|
L1 syndrome
(MONDO_0017140)
|
Definitive
|
|
|
AFF3
(HGNC:6473)
|
KINSSHIP syndrome
(MONDO_0851095)
|
Definitive
|
|
|
LAMA2
(HGNC:6482)
|
congenital merosin-deficient muscular dystrophy 1A
(MONDO_0011925)
|
Definitive
|
|
|
LAMA2
(HGNC:6482)
|
muscular dystrophy, limb-girdle, autosomal recessive 23
(MONDO_0029136)
|
Strong
|
|
|
LAMA3
(HGNC:6483)
|
junctional epidermolysis bullosa Herlitz type
(MONDO_0009182)
|
Strong
|
|
|
LAMA3
(HGNC:6483)
|
laryngo-onycho-cutaneous syndrome
(MONDO_0009513)
|
Definitive
|
|
|
LAMA2
(HGNC:6482)
|
LAMA2-related muscular dystrophy
(MONDO_0100228)
|
Definitive
|
|
|
LAMA4
(HGNC:6484)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
LAMB3
(HGNC:6490)
|
junctional epidermolysis bullosa Herlitz type
(MONDO_0009182)
|
Definitive
|
|
|
LAMB3
(HGNC:6490)
|
generalized junctional epidermolysis bullosa non-Herlitz type
(MONDO_0019307)
|
Strong
|
|
|
LAMC2
(HGNC:6493)
|
junctional epidermolysis bullosa
(MONDO_0017612)
|
Definitive
|
|
|
LARGE1
(HGNC:6511)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Limited
|
|
|
LBR
(HGNC:6518)
|
Greenberg dysplasia
(MONDO_0008974)
|
Strong
|
|
|
LBR
(HGNC:6518)
|
Pelger-Huet anomaly
(MONDO_0008214)
|
Definitive
|
|
|
LCAT
(HGNC:6522)
|
fish eye disease
(MONDO_0007620)
|
Definitive
|
|
|
LBR
(HGNC:6518)
|
regressive spondylometaphyseal dysplasia
(MONDO_0018663)
|
Moderate
|
|
|
LCAT
(HGNC:6522)
|
Norum disease
(MONDO_0009515)
|
Definitive
|
|
|
LCAT
(HGNC:6522)
|
LCAT deficiency
(MONDO_0018999)
|
Definitive
|
|
|
LCT
(HGNC:6530)
|
congenital lactase deficiency
(MONDO_0009115)
|
Definitive
|
|
|
LDLR
(HGNC:6547)
|
hypercholesterolemia, familial, 1
(MONDO_0007750)
|
Definitive
|
|
|
LDLR
(HGNC:6547)
|
homozygous familial hypercholesterolemia
(MONDO_0018328)
|
Definitive
|
|
|
ARF3
(HGNC:654)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
LEP
(HGNC:6553)
|
obesity due to congenital leptin deficiency
(MONDO_0013991)
|
Definitive
|
|
|
LEPR
(HGNC:6554)
|
obesity due to leptin receptor gene deficiency
(MONDO_0013992)
|
Strong
|
|
|
LHB
(HGNC:6584)
|
hypogonadotropic hypogonadism 23 with or without anosmia
(MONDO_0009223)
|
Limited
|
|
|
LIG4
(HGNC:6601)
|
Dubowitz syndrome
(MONDO_0009124)
|
Moderate
|
|
|
LHCGR
(HGNC:6585)
|
familial male-limited precocious puberty
(MONDO_0008303)
|
Strong
|
|
|
LIPC
(HGNC:6619)
|
hyperlipidemia due to hepatic triglyceride lipase deficiency
(MONDO_0013533)
|
Strong
|
|
|
LIG4
(HGNC:6601)
|
DNA ligase IV deficiency
(MONDO_0011686)
|
Strong
|
|
|
LIPE
(HGNC:6621)
|
LIPE-related familial partial lipodystrophy
(MONDO_0014431)
|
Limited
|
|
|
LMAN1
(HGNC:6631)
|
combined deficiency of factor V and factor VIII
(MONDO_0018175)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
atrioventricular block
(MONDO_0000465)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
atrial fibrillation
(MONDO_0004981)
|
Moderate
|
|
|
LMNA
(HGNC:6636)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
dilated cardiomyopathy 1A
(MONDO_0007269)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
(MONDO_0008915)
|
Limited
|
|
|
LMNA
(HGNC:6636)
|
familial partial lipodystrophy, Dunnigan type
(MONDO_0007906)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
Hutchinson-Gilford progeria syndrome
(MONDO_0008310)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
Charcot-Marie-Tooth disease type 2B1
(MONDO_0011569)
|
Definitive
|
|
|
LMNA
(HGNC:6636)
|
mandibuloacral dysplasia with type A lipodystrophy
(MONDO_0009557)
|
Moderate
|
|
|
LMNA
(HGNC:6636)
|
congenital muscular dystrophy due to LMNA mutation
(MONDO_0013178)
|
Strong
|
|
|
LMNA
(HGNC:6636)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Moderate
|
|
|
LMNA
(HGNC:6636)
|
atypical Werner syndrome
(MONDO_0019321)
|
Strong
|
|
|
LMNA
(HGNC:6636)
|
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
(MONDO_0021569)
|
Strong
|
|
|
LMOD3
(HGNC:6649)
|
nemaline myopathy 10
(MONDO_0014513)
|
Strong
|
|
|
LMX1A
(HGNC:6653)
|
Mobius syndrome
(MONDO_0008006)
|
Limited
|
|
|
LMNB1
(HGNC:6637)
|
adult-onset autosomal dominant demyelinating leukodystrophy
(MONDO_0008215)
|
Definitive
|
|
|
LMX1B
(HGNC:6654)
|
nail-patella syndrome
(MONDO_0008061)
|
Definitive
|
|
|
LMX1B
(HGNC:6654)
|
nail-patella-like renal disease
(MONDO_0009724)
|
Moderate
|
|
|
LORICRIN
(HGNC:6663)
|
loricrin keratoderma
(MONDO_0011396)
|
Strong
|
|
|
LPL
(HGNC:6677)
|
hyperlipidemia, familial combined, LPL related
(MONDO_0007759)
|
Limited
|
|
|
LRAT
(HGNC:6685)
|
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
|
Limited
|
|
|
RHOA
(HGNC:667)
|
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
(MONDO_0032884)
|
Limited
|
|
|
LRAT
(HGNC:6685)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Moderate
|
|
|
LRAT
(HGNC:6685)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
LRP1
(HGNC:6692)
|
schizophrenia
(MONDO_0005090)
|
Moderate
|
|
|
LRP2
(HGNC:6694)
|
Stickler syndrome
(MONDO_0019354)
|
Limited
|
|
|
LRP4
(HGNC:6696)
|
sclerosteosis 2
(MONDO_0013679)
|
Moderate
|
|
|
LRP4
(HGNC:6696)
|
congenital myasthenic syndrome 17
(MONDO_0014578)
|
Strong
|
|
|
LRP4
(HGNC:6696)
|
sclerosteosis
(MONDO_0017838)
|
Strong
|
|
|
LRP5
(HGNC:6697)
|
autosomal dominant osteosclerosis, Worth type
(MONDO_0007764)
|
Definitive
|
|
|
LRP5
(HGNC:6697)
|
hyperostosis corticalis generalisata
(MONDO_0009395)
|
Strong
|
|
|
LRP5
(HGNC:6697)
|
osteoporosis-pseudoglioma syndrome
(MONDO_0009820)
|
Definitive
|
|
|
LRP5
(HGNC:6697)
|
exudative vitreoretinopathy
(MONDO_0019516)
|
Definitive
|
|
|
LRP6
(HGNC:6698)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|
|
LRRFIP1
(HGNC:6702)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
LSS
(HGNC:6708)
|
hypotrichosis simplex
(MONDO_0018914)
|
Moderate
|
|
|
LSS
(HGNC:6708)
|
cataract 44
(MONDO_0014673)
|
Definitive
|
|
|
LSS
(HGNC:6708)
|
alopecia-intellectual disability syndrome 4
(MONDO_0030009)
|
Strong
|
|
|
LSS
(HGNC:6708)
|
hypotrichosis 14
(MONDO_0032649)
|
Moderate
|
|
|
LTBP2
(HGNC:6715)
|
congenital glaucoma
(MONDO_0020366)
|
Limited
|
|
|
LTBP2
(HGNC:6715)
|
Weill-Marchesani syndrome
(MONDO_0018096)
|
Moderate
|
|
|
LYZ
(HGNC:6740)
|
ALys amyloidosis
(MONDO_0019732)
|
Strong
|
|
|
LZTFL1
(HGNC:6741)
|
ciliopathy
(MONDO_0005308)
|
Moderate
|
|
|
LZTFL1
(HGNC:6741)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
LZTR1
(HGNC:6742)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
CAPRIN1
(HGNC:6743)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
ARHGAP4
(HGNC:674)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
MAD2L2
(HGNC:6764)
|
Fanconi anemia
(MONDO_0019391)
|
Strong
|
|
|
SMAD2
(HGNC:6768)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
SMAD2
(HGNC:6768)
|
Loeys-Dietz syndrome
(MONDO_0018954)
|
Limited
|
|
|
SMAD3
(HGNC:6769)
|
aneurysm-osteoarthritis syndrome
(MONDO_0013426)
|
Strong
|
|
|
SMAD3
(HGNC:6769)
|
familial thoracic aortic aneurysm and aortic dissection
(MONDO_0019625)
|
Limited
|
|
|
SMAD4
(HGNC:6770)
|
Myhre syndrome
(MONDO_0007688)
|
Definitive
|
|
|
SMAD4
(HGNC:6770)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
SMAD4
(HGNC:6770)
|
juvenile polyposis syndrome
(MONDO_0017380)
|
Definitive
|
|
|
SMAD4
(HGNC:6770)
|
hereditary hemorrhagic telangiectasia
(MONDO_0019180)
|
Definitive
|
|
|
SMAD6
(HGNC:6772)
|
congenital radioulnar synostosis
(MONDO_0017985)
|
Strong
|
|
|
SMAD9
(HGNC:6774)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Definitive
|
|
|
MAGEL2
(HGNC:6814)
|
Schaaf-Yang syndrome
(MONDO_0014243)
|
Definitive
|
|
|
SMAD9
(HGNC:6774)
|
heritable pulmonary arterial hypertension
(MONDO_0017148)
|
Limited
|
|
|
MAN1B1
(HGNC:6823)
|
Rafiq syndrome
(MONDO_0013624)
|
Strong
|
|
|
MAN1B1
(HGNC:6823)
|
MAN1B1-congenital disorder of glycosylation
(MONDO_0018349)
|
Strong
|
|
|
MAN2B1
(HGNC:6826)
|
alpha-mannosidosis
(MONDO_0009561)
|
Definitive
|
|
|
MAOA
(HGNC:6833)
|
Brunner syndrome
(MONDO_0010379)
|
Strong
|
|
|
MAP1B
(HGNC:6836)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Moderate
|
|
|
MANBA
(HGNC:6831)
|
beta-mannosidosis
(MONDO_0009562)
|
Definitive
|
|
|
MAP2K1
(HGNC:6840)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Limited
|
|
|
MAP2K1
(HGNC:6840)
|
Costello syndrome
(MONDO_0009026)
|
Limited
|
|
|
MAP2K1
(HGNC:6840)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Definitive
|
|
|
MAP2K1
(HGNC:6840)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
MAP2K2
(HGNC:6842)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Strong
|
|
|
MAP2K2
(HGNC:6842)
|
neurofibromatosis-Noonan syndrome
(MONDO_0011035)
|
Refuted
|
|
|
MAP2K2
(HGNC:6842)
|
Noonan syndrome
(MONDO_0018997)
|
Moderate
|
|
|
MAP3K1
(HGNC:6848)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Strong
|
|
|
MAP3K1
(HGNC:6848)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
MAP3K6
(HGNC:6858)
|
gastric cancer
(MONDO_0001056)
|
Disputed
|
|
|
MAP3K6
(HGNC:6858)
|
hereditary diffuse gastric adenocarcinoma
(MONDO_0007648)
|
Disputed
|
|
|
MAP3K7
(HGNC:6859)
|
cardiospondylocarpofacial syndrome
(MONDO_0008005)
|
Strong
|
|
|
MAP3K7
(HGNC:6859)
|
frontometaphyseal dysplasia
(MONDO_0015942)
|
Strong
|
|
|
MAP3K7
(HGNC:6859)
|
frontometaphyseal dysplasia 2
(MONDO_0014935)
|
Moderate
|
|
|
ARHGEF6
(HGNC:685)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Strong
|
|
|
ARHGEF6
(HGNC:685)
|
X-linked intellectual disability
(MONDO_0100284)
|
Disputed
|
|
|
MAPKAPK3
(HGNC:6888)
|
patterned macular dystrophy 3
(MONDO_0014920)
|
Moderate
|
|
|
MAPKAPK5
(HGNC:6889)
|
neurocardiofaciodigital syndrome
(MONDO_0859247)
|
Strong
|
|
|
MAPT
(HGNC:6893)
|
Pick disease
(MONDO_0008243)
|
Strong
|
|
|
MAPT
(HGNC:6893)
|
semantic dementia
(MONDO_0010857)
|
Limited
|
|
|
MARS1
(HGNC:6898)
|
Charcot-Marie-Tooth disease axonal type 2U
(MONDO_0014566)
|
Limited
|
|
|
MARS1
(HGNC:6898)
|
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
(MONDO_0014206)
|
Strong
|
|
|
MATN3
(HGNC:6909)
|
multiple epiphyseal dysplasia type 5
(MONDO_0011765)
|
Moderate
|
|
|
ABCD4
(HGNC:68)
|
methylmalonic acidemia with homocystinuria, type cblJ
(MONDO_0013925)
|
Moderate
|
|
|
MAT1A
(HGNC:6903)
|
methionine adenosyltransferase deficiency
(MONDO_0009607)
|
Strong
|
|
|
MASP1
(HGNC:6901)
|
3MC syndrome
(MONDO_0017398)
|
Definitive
|
|
|
MATR3
(HGNC:6912)
|
distal myopathy with vocal cord weakness
(MONDO_0018951)
|
Limited
|
|
|
MC4R
(HGNC:6932)
|
obesity due to melanocortin 4 receptor deficiency
(MONDO_0019115)
|
Limited
|
|
|
MC4R
(HGNC:6932)
|
inherited obesity
(MONDO_0019182)
|
Strong
|
|
|
MCCC1
(HGNC:6936)
|
3-methylcrotonyl-CoA carboxylase deficiency
(MONDO_0018950)
|
Definitive
|
|
|
ARL3
(HGNC:694)
|
Joubert syndrome
(MONDO_0018772)
|
Limited
|
|
|
CHST6
(HGNC:6938)
|
macular corneal dystrophy
(MONDO_0009020)
|
Definitive
|
|
|
PHOX2A
(HGNC:691)
|
fibrosis of extraocular muscles, congenital, 2
(MONDO_0011181)
|
Strong
|
|
|
ARL3
(HGNC:694)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
PHOX2A
(HGNC:691)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Disputed
|
|
|
MCPH1
(HGNC:6954)
|
microcephaly 1, primary, autosomal recessive
(MONDO_0009617)
|
Definitive
|
|
|
MCPH1
(HGNC:6954)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Definitive
|
|
|
MDM2
(HGNC:6973)
|
Li-Fraumeni syndrome
(MONDO_0018875)
|
Limited
|
|
|
MC2R
(HGNC:6930)
|
glucocorticoid deficiency 1
(MONDO_0024536)
|
Definitive
|
|
|
MAX
(HGNC:6913)
|
pheochromocytoma
(MONDO_0008233)
|
Strong
|
|
|
ARL6IP1
(HGNC:697)
|
hereditary spastic paraplegia
(MONDO_0019064)
|
Strong
|
|
|
MECP2
(HGNC:6990)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
MCCC1
(HGNC:6936)
|
3-methylcrotonyl-CoA carboxylase 1 deficiency
(MONDO_0008861)
|
Strong
|
|
|
MECP2
(HGNC:6990)
|
syndromic X-linked intellectual disability Lubs type
(MONDO_0010283)
|
Definitive
|
|
|
MECP2
(HGNC:6990)
|
severe neonatal-onset encephalopathy with microcephaly
(MONDO_0010397)
|
Limited
|
|
|
MECP2
(HGNC:6990)
|
Rett syndrome
(MONDO_0010726)
|
Definitive
|
|
|
MECP2
(HGNC:6990)
|
atypical Rett syndrome
(MONDO_0017746)
|
Moderate
|
|
|
MECP2
(HGNC:6990)
|
non-syndromic X-linked intellectual disability
(MONDO_0019181)
|
Moderate
|
|
|
MEF2C
(HGNC:6996)
|
intellectual disability, autosomal dominant 20
(MONDO_0013266)
|
Moderate
|
|
|
MEFV
(HGNC:6998)
|
familial Mediterranean fever
(MONDO_0018088)
|
Definitive
|
|
|
MEIS2
(HGNC:7001)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
MEN1
(HGNC:7010)
|
familial isolated hyperparathyroidism
(MONDO_0015027)
|
Strong
|
|
|
MEN1
(HGNC:7010)
|
multiple endocrine neoplasia type 1
(MONDO_0007540)
|
Definitive
|
|
|
MEN1
(HGNC:7010)
|
pituitary gigantism
(MONDO_0020479)
|
Limited
|
|
|
MET
(HGNC:7029)
|
osteofibrous dysplasia
(MONDO_0011806)
|
Moderate
|
|
|
MET
(HGNC:7029)
|
hereditary papillary renal cell carcinoma
(MONDO_0003789)
|
Definitive
|
|
|
MET
(HGNC:7029)
|
papillary renal cell carcinoma
(MONDO_0017884)
|
Limited
|
|
|
MGAT2
(HGNC:7045)
|
MGAT2-congenital disorder of glycosylation
(MONDO_0008908)
|
Limited
|
|
|
MGP
(HGNC:7060)
|
Keutel syndrome
(MONDO_0009495)
|
Strong
|
|
|
CIITA
(HGNC:7067)
|
MHC class II deficiency
(MONDO_0008855)
|
Definitive
|
|
|
MID1
(HGNC:7095)
|
X-linked Opitz G/BBB syndrome
(MONDO_0010222)
|
Definitive
|
|
|
MIPEP
(HGNC:7104)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
MITF
(HGNC:7105)
|
renal cell carcinoma
(MONDO_0005086)
|
Limited
|
|
|
MITF
(HGNC:7105)
|
Tietz syndrome
(MONDO_0007077)
|
Definitive
|
|
|
MITF
(HGNC:7105)
|
Waardenburg syndrome type 2A
(MONDO_0008671)
|
Strong
|
|
|
MITF
(HGNC:7105)
|
Waardenburg syndrome
(MONDO_0018094)
|
Definitive
|
|
|
MITF
(HGNC:7105)
|
Waardenburg syndrome type 2
(MONDO_0019517)
|
Definitive
|
|
|
ATXN3
(HGNC:7106)
|
Machado-Joseph disease
(MONDO_0007182)
|
Definitive
|
|
|
MKS1
(HGNC:7121)
|
Meckel syndrome, type 1
(MONDO_0009571)
|
Definitive
|
|
|
MKS1
(HGNC:7121)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
MKS1
(HGNC:7121)
|
Joubert syndrome
(MONDO_0018772)
|
Strong
|
|
|
MKS1
(HGNC:7121)
|
Meckel syndrome
(MONDO_0018921)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Limited
|
|
|
MLH1
(HGNC:7127)
|
Lynch syndrome
(MONDO_0005835)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
Muir-Torre syndrome
(MONDO_0008018)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
MLH1
(HGNC:7127)
|
ovarian cancer
(MONDO_0008170)
|
Strong
|
|
|
MLH1
(HGNC:7127)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
MLH1
(HGNC:7127)
|
mismatch repair cancer syndrome 1
(MONDO_0010159)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
Lynch syndrome 2
(MONDO_0012249)
|
Definitive
|
|
|
MLH1
(HGNC:7127)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
KMT2A
(HGNC:7132)
|
Wiedemann-Steiner syndrome
(MONDO_0011518)
|
Definitive
|
|
|
KMT2D
(HGNC:7133)
|
Kabuki syndrome
(MONDO_0016512)
|
Definitive
|
|
|
ARSA
(HGNC:713)
|
metachromatic leukodystrophy, juvenile form
(MONDO_0009591)
|
Strong
|
|
|
ARSA
(HGNC:713)
|
metachromatic leukodystrophy
(MONDO_0018868)
|
Definitive
|
|
|
TRPM1
(HGNC:7146)
|
congenital stationary night blindness
(MONDO_0016293)
|
Definitive
|
|
|
MLYCD
(HGNC:7150)
|
malonic aciduria
(MONDO_0009556)
|
Definitive
|
|
|
MMP13
(HGNC:7159)
|
metaphyseal chondrodysplasia, Spahr type
(MONDO_0009597)
|
Strong
|
|
|
MMP13
(HGNC:7159)
|
metaphyseal anadysplasia
(MONDO_0015177)
|
Limited
|
|
|
MMP14
(HGNC:7160)
|
Winchester syndrome
(MONDO_0010201)
|
Moderate
|
|
|
MMP14
(HGNC:7160)
|
multicentric osteolysis-nodulosis-arthropathy spectrum
(MONDO_0018298)
|
Limited
|
|
|
MMP2
(HGNC:7166)
|
multicentric osteolysis-nodulosis-arthropathy spectrum
(MONDO_0018298)
|
Definitive
|
|
|
MMP9
(HGNC:7176)
|
metaphyseal anadysplasia 2
(MONDO_0013113)
|
Limited
|
|
|
ALDH6A1
(HGNC:7179)
|
methylmalonate semialdehyde dehydrogenase deficiency
(MONDO_0013579)
|
Moderate
|
|
|
MN1
(HGNC:7180)
|
CEBALID syndrome
(MONDO_0032908)
|
Strong
|
|
|
MOCS1
(HGNC:7190)
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
(MONDO_0009643)
|
Strong
|
|
|
MOCS2
(HGNC:7193)
|
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
(MONDO_0009644)
|
Definitive
|
|
|
ARSL
(HGNC:719)
|
X-linked chondrodysplasia punctata 1
(MONDO_0010555)
|
Strong
|
|
|
MPL
(HGNC:7217)
|
familial thrombocytosis
(MONDO_0019111)
|
Strong
|
|
|
MPST
(HGNC:7223)
|
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
(MONDO_0009585)
|
Limited
|
|
|
MPV17
(HGNC:7224)
|
Charcot-Marie-Tooth disease, axonal, type 2EE
(MONDO_0032728)
|
Moderate
|
|
|
MPV17
(HGNC:7224)
|
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
(MONDO_0009747)
|
Definitive
|
|
|
MPV17
(HGNC:7224)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
MPZ
(HGNC:7225)
|
Charcot-Marie-Tooth disease type 1B
(MONDO_0007307)
|
Definitive
|
|
|
MPZ
(HGNC:7225)
|
Charcot-Marie-Tooth disease type 2J
(MONDO_0011903)
|
Strong
|
|
|
MPZ
(HGNC:7225)
|
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
|
Strong
|
|
|
MRAS
(HGNC:7227)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
MPZ
(HGNC:7225)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Definitive
|
|
|
MRE11
(HGNC:7230)
|
prostate cancer
(MONDO_0008315)
|
Moderate
|
|
|
MRE11
(HGNC:7230)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
MS4A1
(HGNC:7315)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
SEPTIN9
(HGNC:7323)
|
neuralgic amyotrophy
(MONDO_0017362)
|
Strong
|
|
|
MRE11
(HGNC:7230)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
MSH2
(HGNC:7325)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
MRE11
(HGNC:7230)
|
ataxia-telangiectasia-like disorder 1
(MONDO_0024557)
|
Limited
|
|
|
MSH2
(HGNC:7325)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
MSH2
(HGNC:7325)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Limited
|
|
|
MSH3
(HGNC:7326)
|
Lynch syndrome
(MONDO_0005835)
|
Limited
|
|
|
MSH2
(HGNC:7325)
|
Muir-Torre syndrome
(MONDO_0008018)
|
Definitive
|
|
|
MSH2
(HGNC:7325)
|
mismatch repair cancer syndrome 1
(MONDO_0010159)
|
Strong
|
|
|
MSH2
(HGNC:7325)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
MSH6
(HGNC:7329)
|
Lynch syndrome
(MONDO_0005835)
|
Definitive
|
|
|
MSH6
(HGNC:7329)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
MSH6
(HGNC:7329)
|
mismatch repair cancer syndrome 1
(MONDO_0010159)
|
Definitive
|
|
|
MSH6
(HGNC:7329)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Moderate
|
|
|
MSH6
(HGNC:7329)
|
Muir-Torre syndrome
(MONDO_0008018)
|
Moderate
|
|
|
MSL3
(HGNC:7370)
|
Basilicata-Akhtar syndrome
(MONDO_0026730)
|
Definitive
|
|
|
MSN
(HGNC:7373)
|
combined immunodeficiency due to moesin deficiency
(MONDO_0010514)
|
Strong
|
|
|
MSR1
(HGNC:7376)
|
Barrett esophagus
(MONDO_0013662)
|
Moderate
|
|
|
MSH2
(HGNC:7325)
|
ovarian cancer
(MONDO_0008170)
|
Strong
|
|
|
MST1
(HGNC:7380)
|
epidermodysplasia verruciformis
(MONDO_0009176)
|
Limited
|
|
|
MSX1
(HGNC:7391)
|
tooth and nail syndrome
(MONDO_0008582)
|
Strong
|
|
|
MSX2
(HGNC:7392)
|
parietal foramina with cleidocranial dysplasia
(MONDO_0008198)
|
Moderate
|
|
|
MSH6
(HGNC:7329)
|
ovarian cancer
(MONDO_0008170)
|
Definitive
|
|
|
MT-ATP6
(HGNC:7414)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MT-ATP6
(HGNC:7414)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Limited
|
|
|
MSH6
(HGNC:7329)
|
prostate cancer
(MONDO_0008315)
|
Moderate
|
|
|
MT-ATP6
(HGNC:7414)
|
NARP syndrome
(MONDO_0010794)
|
Strong
|
|
|
MT-ATP6
(HGNC:7414)
|
mitochondrial disease
(MONDO_0044970)
|
Definitive
|
|
|
MT-ATP8
(HGNC:7415)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
MT-CO1
(HGNC:7419)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
MT-CO1
(HGNC:7419)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
MT-CO1
(HGNC:7419)
|
MELAS syndrome
(MONDO_0010789)
|
Limited
|
|
|
MT-CO1
(HGNC:7419)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
MT-CO2
(HGNC:7421)
|
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
|
Limited
|
|
|
MT-CO2
(HGNC:7421)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
MT-CO2
(HGNC:7421)
|
MELAS syndrome
(MONDO_0010789)
|
Limited
|
|
|
MT-CO2
(HGNC:7421)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
MT-CO3
(HGNC:7422)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
MT-CO3
(HGNC:7422)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Definitive
|
|
|
MT-CO3
(HGNC:7422)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
MT-ATP6
(HGNC:7414)
|
maternally-inherited Leigh syndrome
(MONDO_0016814)
|
Definitive
|
|
|
MT-CYB
(HGNC:7427)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Strong
|
|
|
MT-CYB
(HGNC:7427)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Moderate
|
|
|
MT-CYB
(HGNC:7427)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
MTHFR
(HGNC:7436)
|
homocystinuria due to methylene tetrahydrofolate reductase deficiency
(MONDO_0009353)
|
Definitive
|
|
|
MTMR2
(HGNC:7450)
|
Charcot-Marie-Tooth disease type 4B1
(MONDO_0011066)
|
Definitive
|
|
|
MT-ND1
(HGNC:7455)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MT-ND1
(HGNC:7455)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Definitive
|
|
|
MT-ND1
(HGNC:7455)
|
MELAS syndrome
(MONDO_0010789)
|
Moderate
|
|
|
MT-ND1
(HGNC:7455)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
MT-ND1
(HGNC:7455)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
MT-ND2
(HGNC:7456)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Limited
|
|
|
MT-ND2
(HGNC:7456)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
MT-ND2
(HGNC:7456)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
MT-ND3
(HGNC:7458)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MT-ND2
(HGNC:7456)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
MT-ND3
(HGNC:7458)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
MT-ND3
(HGNC:7458)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
MT-ND4
(HGNC:7459)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MT-ND4
(HGNC:7459)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Definitive
|
|
|
MT-ND4
(HGNC:7459)
|
MELAS syndrome
(MONDO_0010789)
|
Limited
|
|
|
MT-ND4
(HGNC:7459)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
MT-ND4L
(HGNC:7460)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Definitive
|
|
|
MT-ND4L
(HGNC:7460)
|
mitochondrial disease
(MONDO_0044970)
|
Limited
|
|
|
MT-ND5
(HGNC:7461)
|
Leigh syndrome
(MONDO_0009723)
|
Definitive
|
|
|
MT-ND5
(HGNC:7461)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Strong
|
|
|
MT-ND5
(HGNC:7461)
|
MELAS syndrome
(MONDO_0010789)
|
Strong
|
|
|
MT-ND5
(HGNC:7461)
|
mitochondrial disease
(MONDO_0044970)
|
Definitive
|
|
|
MT-ND6
(HGNC:7462)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
MT-ND6
(HGNC:7462)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Definitive
|
|
|
MT-ND6
(HGNC:7462)
|
MELAS syndrome
(MONDO_0010789)
|
Limited
|
|
|
MT-ND6
(HGNC:7462)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
MTX2
(HGNC:7506)
|
mandibuloacral dysplasia
(MONDO_0016584)
|
Limited
|
|
|
MTR
(HGNC:7468)
|
methylcobalamin deficiency type cblG
(MONDO_0009609)
|
Strong
|
|
|
MTX2
(HGNC:7506)
|
mandibuloacral dysplasia progeroid syndrome
(MONDO_0030880)
|
Limited
|
|
|
MUC1
(HGNC:7508)
|
tubulointerstitial kidney disease, autosomal dominant, 2
(MONDO_0020726)
|
Definitive
|
|
|
MUC5B
(HGNC:7516)
|
interstitial lung disease
(MONDO_0015925)
|
Moderate
|
|
|
MUSK
(HGNC:7525)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Limited
|
|
|
MUTYH
(HGNC:7527)
|
colorectal cancer
(MONDO_0005575)
|
Definitive
|
|
|
MUTYH
(HGNC:7527)
|
familial ovarian cancer
(MONDO_0016248)
|
Limited
|
|
|
MUTYH
(HGNC:7527)
|
familial adenomatous polyposis 2
(MONDO_0012041)
|
Definitive
|
|
|
MUTYH
(HGNC:7527)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Disputed
|
|
|
MVD
(HGNC:7529)
|
disseminated superficial actinic porokeratosis
(MONDO_0019212)
|
Strong
|
|
|
TRIM37
(HGNC:7523)
|
mulibrey nanism
(MONDO_0009664)
|
Definitive
|
|
|
MVK
(HGNC:7530)
|
hyperimmunoglobulinemia D with periodic fever
(MONDO_0009849)
|
Definitive
|
|
|
MVK
(HGNC:7530)
|
mevalonic aciduria
(MONDO_0012481)
|
Strong
|
|
|
MYBPC3
(HGNC:7551)
|
atrial fibrillation
(MONDO_0004981)
|
Limited
|
|
|
MYBPC3
(HGNC:7551)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Strong
|
|
|
MYBPC3
(HGNC:7551)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Definitive
|
|
|
MYBPC3
(HGNC:7551)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
MYH3
(HGNC:7573)
|
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
(MONDO_0008338)
|
Limited
|
|
|
MYD88
(HGNC:7562)
|
pyogenic bacterial infections due to MyD88 deficiency
(MONDO_0012839)
|
Moderate
|
|
|
MYCN
(HGNC:7559)
|
Feingold syndrome type 1
(MONDO_0008115)
|
Definitive
|
|
|
MVK
(HGNC:7530)
|
disseminated superficial actinic porokeratosis
(MONDO_0019212)
|
Strong
|
|
|
MYH3
(HGNC:7573)
|
Freeman-Sheldon syndrome
(MONDO_0008675)
|
Strong
|
|
|
MYH3
(HGNC:7573)
|
spondylocarpotarsal synostosis syndrome
(MONDO_0010094)
|
Strong
|
|
|
MYH3
(HGNC:7573)
|
Sheldon-hall syndrome
(MONDO_0011128)
|
Strong
|
|
|
MYH3
(HGNC:7573)
|
contractures, pterygia, and variable skeletal fusions syndrome 1B
(MONDO_0020746)
|
Moderate
|
|
|
MYH6
(HGNC:7576)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
MYH7
(HGNC:7577)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
MYH6
(HGNC:7576)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Moderate
|
|
|
MYH7
(HGNC:7577)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Strong
|
|
|
MYH7
(HGNC:7577)
|
congenital heart disease
(MONDO_0005453)
|
Moderate
|
|
|
MYH7
(HGNC:7577)
|
MYH7-related skeletal myopathy
(MONDO_0008050)
|
Strong
|
|
|
MYH7
(HGNC:7577)
|
congenital myopathy 7A, myosin storage, autosomal dominant
(MONDO_0008409)
|
Definitive
|
|
|
MYH8
(HGNC:7578)
|
trismus-pseudocamptodactyly syndrome
(MONDO_0008016)
|
Strong
|
|
|
MYH7
(HGNC:7577)
|
Ebstein anomaly
(MONDO_0009144)
|
Strong
|
|
|
MYH7
(HGNC:7577)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
MYH7
(HGNC:7577)
|
left ventricular noncompaction
(MONDO_0018901)
|
Definitive
|
|
|
MYH9
(HGNC:7579)
|
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
(MONDO_0015912)
|
Definitive
|
|
|
MYL1
(HGNC:7582)
|
congenital myopathy
(MONDO_0019952)
|
Moderate
|
|
|
MYL2
(HGNC:7583)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
MYO15A
(HGNC:7594)
|
autosomal recessive nonsyndromic hearing loss 3
(MONDO_0010860)
|
Definitive
|
|
|
MYO6
(HGNC:7605)
|
autosomal dominant nonsyndromic hearing loss 22
(MONDO_0011660)
|
Moderate
|
|
|
MYO5A
(HGNC:7602)
|
Griscelli syndrome type 1
(MONDO_0008962)
|
Strong
|
|
|
MYO7A
(HGNC:7606)
|
Usher syndrome type 2
(MONDO_0016484)
|
Limited
|
|
|
MYO7A
(HGNC:7606)
|
autosomal recessive nonsyndromic hearing loss 2
(MONDO_0010807)
|
Moderate
|
|
|
MYO7A
(HGNC:7606)
|
autosomal dominant nonsyndromic hearing loss 11
(MONDO_0011032)
|
Strong
|
|
|
MYO7A
(HGNC:7606)
|
Usher syndrome type 1B
(MONDO_0700087)
|
Definitive
|
|
|
MYL2
(HGNC:7583)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
MYL2
(HGNC:7583)
|
congenital fiber-type disproportion myopathy
(MONDO_0009711)
|
Limited
|
|
|
MYT1
(HGNC:7622)
|
craniofacial microsomia
(MONDO_0015397)
|
Strong
|
|
|
MYOC
(HGNC:7610)
|
congenital glaucoma
(MONDO_0020366)
|
Limited
|
|
|
NAGA
(HGNC:7631)
|
alpha-N-acetylgalactosaminidase deficiency type 1
(MONDO_0012221)
|
Strong
|
|
|
NBN
(HGNC:7652)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
NAGA
(HGNC:7631)
|
alpha-N-acetylgalactosaminidase deficiency
(MONDO_0017779)
|
Limited
|
|
|
MYL3
(HGNC:7584)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
NBN
(HGNC:7652)
|
Nijmegen breakage syndrome
(MONDO_0009623)
|
Definitive
|
|
|
NBN
(HGNC:7652)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
MYL3
(HGNC:7584)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Definitive
|
|
|
NCF2
(HGNC:7661)
|
chronic granulomatous disease
(MONDO_0018305)
|
Strong
|
|
|
NCF4
(HGNC:7662)
|
chronic granulomatous disease
(MONDO_0018305)
|
Strong
|
|
|
NDRG1
(HGNC:7679)
|
Charcot-Marie-Tooth disease type 4D
(MONDO_0011085)
|
Strong
|
|
|
MYL3
(HGNC:7584)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Limited
|
|
|
NDUFA1
(HGNC:7683)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
NDUFA1
(HGNC:7683)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Moderate
|
|
|
NDUFA2
(HGNC:7685)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
NDST1
(HGNC:7680)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Strong
|
|
|
NDUFA3
(HGNC:7686)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
NDUFA6
(HGNC:7690)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFA4
(HGNC:7687)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
NDUFB3
(HGNC:7698)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
ABL1
(HGNC:76)
|
congenital heart defects and skeletal malformations syndrome
(MONDO_0060532)
|
Definitive
|
|
|
NDUFB8
(HGNC:7703)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
NDUFB9
(HGNC:7704)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
NDUFS1
(HGNC:7707)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFS1
(HGNC:7707)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
NDUFS1
(HGNC:7707)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFS2
(HGNC:7708)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFS2
(HGNC:7708)
|
Leber hereditary optic neuropathy
(MONDO_0010788)
|
Limited
|
|
|
NDUFS2
(HGNC:7708)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Definitive
|
|
|
NDUFS3
(HGNC:7710)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
NDUFS3
(HGNC:7710)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
NDUFS4
(HGNC:7711)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFS6
(HGNC:7713)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
NDUFS6
(HGNC:7713)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFS7
(HGNC:7714)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFS7
(HGNC:7714)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Limited
|
|
|
NDUFS8
(HGNC:7715)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFS8
(HGNC:7715)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFV1
(HGNC:7716)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NDUFV2
(HGNC:7717)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
NDUFV2
(HGNC:7717)
|
mitochondrial complex I deficiency
(MONDO_0100133)
|
Strong
|
|
|
NEB
(HGNC:7720)
|
lethal multiple pterygium syndrome
(MONDO_0009668)
|
Limited
|
|
|
NEDD4L
(HGNC:7728)
|
periventricular nodular heterotopia
(MONDO_0020341)
|
Strong
|
|
|
NEFH
(HGNC:7737)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
NEFL
(HGNC:7739)
|
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
|
Moderate
|
|
|
NEK1
(HGNC:7744)
|
orofaciodigital syndrome type II
(MONDO_0009642)
|
Moderate
|
|
|
NEU1
(HGNC:7758)
|
sialidosis type 2
(MONDO_0009738)
|
Definitive
|
|
|
NEU1
(HGNC:7758)
|
sialidosis type 1
(MONDO_0019346)
|
Definitive
|
|
|
SERPINC1
(HGNC:775)
|
hereditary antithrombin deficiency
(MONDO_0013144)
|
Definitive
|
|
|
NEUROD1
(HGNC:7762)
|
maturity-onset diabetes of the young type 6
(MONDO_0011668)
|
Moderate
|
|
|
NEUROD1
(HGNC:7762)
|
monogenic diabetes
(MONDO_0015967)
|
Limited
|
|
|
NEUROD1
(HGNC:7762)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Limited
|
|
|
NF1
(HGNC:7765)
|
neurofibromatosis-Noonan syndrome
(MONDO_0011035)
|
Strong
|
|
|
NF1
(HGNC:7765)
|
Moyamoya disease
(MONDO_0016820)
|
Moderate
|
|
|
NF1
(HGNC:7765)
|
neurofibromatosis type 1
(MONDO_0018975)
|
Definitive
|
|
|
NF2
(HGNC:7773)
|
NF2-related schwannomatosis
(MONDO_0007039)
|
Definitive
|
|
|
NFATC1
(HGNC:7775)
|
congenital heart disease
(MONDO_0005453)
|
Moderate
|
|
|
ZFHX3
(HGNC:777)
|
epilepsy
(MONDO_0005027)
|
Moderate
|
|
|
ZFHX3
(HGNC:777)
|
spinocerebellar ataxia type 4
(MONDO_0010847)
|
Strong
|
|
|
NFKB1
(HGNC:7794)
|
common variable immunodeficiency
(MONDO_0015517)
|
Definitive
|
|
|
NFKB2
(HGNC:7795)
|
deficiency in anterior pituitary function - variable immunodeficiency syndrome
(MONDO_0017407)
|
Strong
|
|
|
NFKBIA
(HGNC:7797)
|
ectodermal dysplasia and immune deficiency
(MONDO_0010293)
|
Strong
|
|
|
ATCAY
(HGNC:779)
|
Cayman type cerebellar ataxia
(MONDO_0011025)
|
Moderate
|
|
|
NGF
(HGNC:7808)
|
hereditary sensory and autonomic neuropathy type 5
(MONDO_0012092)
|
Strong
|
|
|
NGF
(HGNC:7808)
|
hereditary sensory and autonomic neuropathy
(MONDO_0015364)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
stapes ankylosis with broad thumbs and toes
(MONDO_0008484)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
multiple synostoses syndrome 1
(MONDO_0008519)
|
Strong
|
|
|
NOG
(HGNC:7866)
|
tarsal-carpal coalition syndrome
(MONDO_0008521)
|
Limited
|
|
|
NOG
(HGNC:7866)
|
brachydactyly type B2
(MONDO_0012658)
|
Limited
|
|
|
NOG
(HGNC:7866)
|
multiple synostoses syndrome
(MONDO_0017923)
|
Definitive
|
|
|
NONO
(HGNC:7871)
|
syndromic X-linked intellectual disability 34
(MONDO_0010501)
|
Strong
|
|
|
CNOT1
(HGNC:7877)
|
Vissers-Bodmer syndrome
(MONDO_0033618)
|
Definitive
|
|
|
CNOT2
(HGNC:7878)
|
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
(MONDO_0032832)
|
Strong
|
|
|
NOTCH1
(HGNC:7881)
|
connective tissue disorder
(MONDO_0003900)
|
Limited
|
|
|
CNOT3
(HGNC:7879)
|
intellectual developmental disorder with speech delay, autism, and dysmorphic facies
(MONDO_0032864)
|
Strong
|
|
|
NOTCH1
(HGNC:7881)
|
familial bicuspid aortic valve
(MONDO_0007194)
|
Limited
|
|
|
NOTCH1
(HGNC:7881)
|
Adams-Oliver syndrome
(MONDO_0007034)
|
Strong
|
|
|
NOTCH2
(HGNC:7882)
|
Acroosteolysis dominant type
(MONDO_0007057)
|
Definitive
|
|
|
NOTCH2
(HGNC:7882)
|
Alagille syndrome
(MONDO_0007318)
|
Strong
|
|
|
NOTCH2
(HGNC:7882)
|
Alagille syndrome due to a NOTCH2 point mutation
(MONDO_0012439)
|
Moderate
|
|
|
NOTCH3
(HGNC:7883)
|
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
(MONDO_0000914)
|
Definitive
|
|
|
NOTCH3
(HGNC:7883)
|
pulmonary arterial hypertension
(MONDO_0015924)
|
Limited
|
|
|
NOTCH3
(HGNC:7883)
|
lateral meningocele syndrome
(MONDO_0007537)
|
Strong
|
|
|
NOTCH3
(HGNC:7883)
|
infantile myofibromatosis
(MONDO_0016824)
|
Limited
|
|
|
NPC1
(HGNC:7897)
|
Niemann-Pick disease, type C1
(MONDO_0009757)
|
Definitive
|
|
|
NPHP1
(HGNC:7905)
|
nephronophthisis 1
(MONDO_0009728)
|
Definitive
|
|
|
NPHP1
(HGNC:7905)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Limited
|
|
|
NPHP1
(HGNC:7905)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Definitive
|
|
|
NPHP3
(HGNC:7907)
|
nephronophthisis 3
(MONDO_0011456)
|
Strong
|
|
|
NPHP3
(HGNC:7907)
|
renal-hepatic-pancreatic dysplasia
(MONDO_0017417)
|
Moderate
|
|
|
NPHP3
(HGNC:7907)
|
Senior-Loken syndrome
(MONDO_0017842)
|
Limited
|
|
|
NPHS1
(HGNC:7908)
|
congenital nephrotic syndrome, Finnish type
(MONDO_0009732)
|
Definitive
|
|
|
ATF6
(HGNC:791)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
ATF6
(HGNC:791)
|
achromatopsia
(MONDO_0018852)
|
Strong
|
|
|
NPR2
(HGNC:7944)
|
tall stature-scoliosis-macrodactyly of the great toes syndrome
(MONDO_0014401)
|
Moderate
|
|
|
ATM
(HGNC:795)
|
gastric carcinoma
(MONDO_0004950)
|
Limited
|
|
|
NPR2
(HGNC:7944)
|
short stature with nonspecific skeletal abnormalities
(MONDO_0014551)
|
Strong
|
|
|
ATIC
(HGNC:794)
|
AICA-ribosiduria
(MONDO_0012099)
|
Strong
|
|
|
ATM
(HGNC:795)
|
prostate cancer
(MONDO_0008315)
|
Strong
|
|
|
ATM
(HGNC:795)
|
sarcoma
(MONDO_0005089)
|
Moderate
|
|
|
ATM
(HGNC:795)
|
ataxia telangiectasia
(MONDO_0008840)
|
Definitive
|
|
|
ATM
(HGNC:795)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Limited
|
|
|
NR1H4
(HGNC:7967)
|
cholestasis, progressive familial intrahepatic, 5
(MONDO_0014884)
|
Moderate
|
|
|
NR2E1
(HGNC:7973)
|
microcephaly
(MONDO_0001149)
|
Limited
|
|
|
ATM
(HGNC:795)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Moderate
|
|
|
NR2E3
(HGNC:7974)
|
Goldmann-Favre syndrome
(MONDO_0100289)
|
Moderate
|
|
|
NR0B1
(HGNC:7960)
|
X-linked adrenal hypoplasia congenita
(MONDO_0010264)
|
Definitive
|
|
|
NR3C1
(HGNC:7978)
|
glucocorticoid resistance
(MONDO_0014421)
|
Moderate
|
|
|
NR2E3
(HGNC:7974)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
NR3C2
(HGNC:7979)
|
autosomal dominant pseudohypoaldosteronism type 1
(MONDO_0008329)
|
Definitive
|
|
|
NR5A1
(HGNC:7983)
|
46,XY complete gonadal dysgenesis
(MONDO_0010765)
|
Strong
|
|
|
NR5A1
(HGNC:7983)
|
46,XY partial gonadal dysgenesis
(MONDO_0016674)
|
Strong
|
|
|
NRAS
(HGNC:7989)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Limited
|
|
|
NR4A2
(HGNC:7981)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
NRAS
(HGNC:7989)
|
Costello syndrome
(MONDO_0009026)
|
Refuted
|
|
|
NRAS
(HGNC:7989)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Limited
|
|
|
NRAS
(HGNC:7989)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
NRP1
(HGNC:8004)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
NRXN1
(HGNC:8008)
|
schizophrenia
(MONDO_0005090)
|
Strong
|
|
|
NRL
(HGNC:8002)
|
enhanced S-cone syndrome
(MONDO_0100288)
|
Limited
|
|
|
NRL
(HGNC:8002)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
NRXN1
(HGNC:8008)
|
autism
(MONDO_0005260)
|
Strong
|
|
|
NRXN1
(HGNC:8008)
|
Pitt-Hopkins-like syndrome 2
(MONDO_0013690)
|
Limited
|
|
|
ATP1A2
(HGNC:800)
|
alternating hemiplegia of childhood 1
(MONDO_0007087)
|
Limited
|
|
|
NRXN2
(HGNC:8009)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
ATP1A2
(HGNC:800)
|
migraine, familial hemiplegic, 2
(MONDO_0011232)
|
Definitive
|
|
|
ATP1A2
(HGNC:800)
|
alternating hemiplegia of childhood
(MONDO_0016241)
|
Moderate
|
|
|
NRXN3
(HGNC:8010)
|
autism
(MONDO_0005260)
|
Limited
|
|
|
ATP1A3
(HGNC:801)
|
dystonia 12
(MONDO_0007496)
|
Definitive
|
|
|
ATP1A3
(HGNC:801)
|
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
(MONDO_0011038)
|
Definitive
|
|
|
CNTNAP1
(HGNC:8011)
|
lethal congenital contracture syndrome 7
(MONDO_0014569)
|
Moderate
|
|
|
NT5E
(HGNC:8021)
|
hereditary arterial and articular multiple calcification syndrome
(MONDO_0008895)
|
Strong
|
|
|
ATP1A3
(HGNC:801)
|
alternating hemiplegia of childhood 2
(MONDO_0013900)
|
Definitive
|
|
|
ATP1A3
(HGNC:801)
|
alternating hemiplegia of childhood
(MONDO_0016241)
|
Definitive
|
|
|
NT5C2
(HGNC:8022)
|
hereditary spastic paraplegia 45
(MONDO_0013165)
|
Strong
|
|
|
NTN1
(HGNC:8029)
|
familial congenital mirror movements
(MONDO_0016558)
|
Moderate
|
|
|
NTRK1
(HGNC:8031)
|
hereditary sensory and autonomic neuropathy type 4
(MONDO_0009746)
|
Definitive
|
|
|
NTHL1
(HGNC:8028)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
NUP88
(HGNC:8067)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Strong
|
|
|
NTRK3
(HGNC:8033)
|
congenital heart disease
(MONDO_0005453)
|
Moderate
|
|
|
NYX
(HGNC:8082)
|
congenital stationary night blindness
(MONDO_0016293)
|
Definitive
|
|
|
OCA2
(HGNC:8101)
|
oculocutaneous albinism type 2
(MONDO_0008746)
|
Definitive
|
|
|
OCRL
(HGNC:8108)
|
Dent disease type 2
(MONDO_0010359)
|
Definitive
|
|
|
ODC1
(HGNC:8109)
|
neurodevelopmental disorder with alopecia and brain abnormalities
(MONDO_0033642)
|
Strong
|
|
|
TENM1
(HGNC:8117)
|
cerebral palsy
(MONDO_0006497)
|
Limited
|
|
|
ATP2A1
(HGNC:811)
|
Brody myopathy
(MONDO_0010977)
|
Definitive
|
|
|
OGDH
(HGNC:8124)
|
oxoglutaricaciduria
(MONDO_0008759)
|
Strong
|
|
|
ONECUT1
(HGNC:8138)
|
neonatal diabetes mellitus
(MONDO_0016391)
|
Moderate
|
|
|
OPLAH
(HGNC:8149)
|
5-oxoprolinase deficiency
(MONDO_0009825)
|
Limited
|
|
|
OPA3
(HGNC:8142)
|
3-methylglutaconic aciduria type 3
(MONDO_0009787)
|
Strong
|
|
|
SIGMAR1
(HGNC:8157)
|
autosomal recessive distal spinal muscular atrophy 2
(MONDO_0011585)
|
Strong
|
|
|
SIGMAR1
(HGNC:8157)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Limited
|
|
|
ATP5F1A
(HGNC:823)
|
mitochondrial disease
(MONDO_0044970)
|
Moderate
|
|
|
ORC1
(HGNC:8487)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Definitive
|
|
|
ORC4
(HGNC:8490)
|
Meier-Gorlin syndrome
(MONDO_0016817)
|
Strong
|
|
|
ACACA
(HGNC:84)
|
acetyl-coa carboxylase deficiency
(MONDO_0013493)
|
Limited
|
|
|
OSMR
(HGNC:8507)
|
familial primary localized cutaneous amyloidosis
(MONDO_0007101)
|
Strong
|
|
|
OTOF
(HGNC:8515)
|
autosomal recessive nonsyndromic hearing loss 9
(MONDO_0010986)
|
Definitive
|
|
|
ATP6V1A
(HGNC:851)
|
developmental and epileptic encephalopathy 93
(MONDO_0020632)
|
Strong
|
|
|
ATP6V1A
(HGNC:851)
|
autosomal recessive cutis laxa type 2D
(MONDO_0027451)
|
Strong
|
|
|
OXCT1
(HGNC:8527)
|
succinyl-CoA:3-ketoacid CoA transferase deficiency
(MONDO_0009492)
|
Strong
|
|
|
P2RX6
(HGNC:8538)
|
myopathy
(MONDO_0005336)
|
Limited
|
|
|
ATP6V1B1
(HGNC:853)
|
autosomal recessive distal renal tubular acidosis
(MONDO_0018440)
|
Definitive
|
|
|
P4HA2
(HGNC:8547)
|
myopia
(MONDO_0001384)
|
Moderate
|
|
|
P4HB
(HGNC:8548)
|
Cole-Carpenter syndrome 1
(MONDO_0007204)
|
Limited
|
|
|
P4HB
(HGNC:8548)
|
Cole-Carpenter syndrome
(MONDO_0016085)
|
Moderate
|
|
|
BLOC1S6
(HGNC:8549)
|
Hermansky-Pudlak syndrome 9
(MONDO_0013606)
|
Limited
|
|
|
ATP6V1B2
(HGNC:854)
|
Zimmermann-Laband syndrome
(MONDO_0000200)
|
Strong
|
|
|
ATP6V1B2
(HGNC:854)
|
autosomal dominant deafness - onychodystrophy syndrome
(MONDO_0007420)
|
Strong
|
|
|
ATP6V1B2
(HGNC:854)
|
Zimmermann-Laband syndrome 2
(MONDO_0014646)
|
Limited
|
|
|
PAH
(HGNC:8582)
|
phenylketonuria
(MONDO_0009861)
|
Definitive
|
|
|
ATP6V1B2
(HGNC:854)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
PAH
(HGNC:8582)
|
maternal phenylketonuria
(MONDO_0016366)
|
Definitive
|
|
|
PAH
(HGNC:8582)
|
mild phenylketonuria
(MONDO_0019258)
|
Definitive
|
|
|
PAH
(HGNC:8582)
|
classic phenylketonuria
(MONDO_0019259)
|
Definitive
|
|
|
PAH
(HGNC:8582)
|
mild hyperphenylalaninemia
(MONDO_0019335)
|
Definitive
|
|
|
PAK1
(HGNC:8590)
|
intellectual developmental disorder with macrocephaly, seizures, and speech delay
(MONDO_0032568)
|
Strong
|
|
|
PAK2
(HGNC:8591)
|
Knobloch syndrome 2
(MONDO_0100119)
|
Strong
|
|
|
PRKN
(HGNC:8607)
|
Parkinson disease
(MONDO_0005180)
|
Definitive
|
|
|
PRKN
(HGNC:8607)
|
autosomal recessive juvenile Parkinson disease 2
(MONDO_0010820)
|
Strong
|
|
|
PRKN
(HGNC:8607)
|
young-onset Parkinson disease
(MONDO_0017279)
|
Definitive
|
|
|
PARN
(HGNC:8609)
|
dyskeratosis congenita
(MONDO_0015780)
|
Strong
|
|
|
PAX1
(HGNC:8615)
|
otofaciocervical syndrome 2
(MONDO_0014254)
|
Strong
|
|
|
PAX2
(HGNC:8616)
|
renal coloboma syndrome
(MONDO_0007352)
|
Definitive
|
|
|
PAX3
(HGNC:8617)
|
craniofacial-deafness-hand syndrome
(MONDO_0007395)
|
Limited
|
|
|
PARN
(HGNC:8609)
|
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
|
Strong
|
|
|
PAX3
(HGNC:8617)
|
Waardenburg syndrome type 3
(MONDO_0007862)
|
Moderate
|
|
|
PAX2
(HGNC:8616)
|
focal segmental glomerulosclerosis 7
(MONDO_0014451)
|
Limited
|
|
|
PAX4
(HGNC:8618)
|
maturity-onset diabetes of the young type 9
(MONDO_0012818)
|
Strong
|
|
|
PAX6
(HGNC:8620)
|
diabetes mellitus
(MONDO_0005015)
|
Moderate
|
|
|
PAX4
(HGNC:8618)
|
monogenic diabetes
(MONDO_0015967)
|
Strong
|
|
|
PAX6
(HGNC:8620)
|
aniridia-cerebellar ataxia-intellectual disability syndrome
(MONDO_0008795)
|
Disputed
|
|
|
PAX6
(HGNC:8620)
|
Peters anomaly
(MONDO_0011414)
|
Limited
|
|
|
PBX1
(HGNC:8632)
|
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
(MONDO_0060549)
|
Strong
|
|
|
PAX8
(HGNC:8622)
|
athyreosis
(MONDO_0019855)
|
Limited
|
|
|
PCDH12
(HGNC:8657)
|
diencephalic-mesencephalic junction dysplasia syndrome 1
(MONDO_0009625)
|
Limited
|
|
|
PC
(HGNC:8636)
|
pyruvate carboxylase deficiency disease
(MONDO_0009949)
|
Definitive
|
|
|
PCDH12
(HGNC:8657)
|
diencephalic-mesencephalic junction dysplasia
(MONDO_0017868)
|
Strong
|
|
|
ATP7A
(HGNC:869)
|
X-linked distal spinal muscular atrophy type 3
(MONDO_0010338)
|
Limited
|
|
|
ATP6V0A4
(HGNC:866)
|
autosomal recessive distal renal tubular acidosis
(MONDO_0018440)
|
Strong
|
|
|
PCK1
(HGNC:8724)
|
phosphoenolpyruvate carboxykinase deficiency, cytosolic
(MONDO_0009866)
|
Strong
|
|
|
PAX6
(HGNC:8620)
|
autosomal dominant keratitis
(MONDO_0007848)
|
Strong
|
|
|
PCK1
(HGNC:8724)
|
phosphoenolpyruvate carboxykinase deficiency
(MONDO_0017320)
|
Limited
|
|
|
ATP7A
(HGNC:869)
|
Hirschsprung disease
(MONDO_0018309)
|
Limited
|
|
|
CHMP1A
(HGNC:8740)
|
pontocerebellar hypoplasia type 8
(MONDO_0013990)
|
Limited
|
|
|
PDCD1
(HGNC:8760)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
PCYT1A
(HGNC:8754)
|
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
(MONDO_0012160)
|
Strong
|
|
|
PDCD10
(HGNC:8761)
|
cerebral cavernous malformation 3
(MONDO_0011305)
|
Definitive
|
|
|
PAX4
(HGNC:8618)
|
maturity-onset diabetes of the young
(MONDO_0018911)
|
Strong
|
|
|
AIFM1
(HGNC:8768)
|
spondyloepimetaphyseal dysplasia, Bieganski type
(MONDO_0010275)
|
Strong
|
|
|
PDCD10
(HGNC:8761)
|
famililal cerebral cavernous malformations
(MONDO_0031037)
|
Strong
|
|
|
PDE11A
(HGNC:8773)
|
primary pigmented nodular adrenocortical disease
(MONDO_0015999)
|
Limited
|
|
|
AIFM1
(HGNC:8768)
|
Charcot-Marie-Tooth disease X-linked recessive 4
(MONDO_0010689)
|
Strong
|
|
|
PDE2A
(HGNC:8777)
|
intellectual developmental disorder with paroxysmal dyskinesia or seizures
(MONDO_0030900)
|
Strong
|
|
|
PDE3A
(HGNC:8778)
|
brachydactyly-arterial hypertension syndrome
(MONDO_0007211)
|
Definitive
|
|
|
PDE4D
(HGNC:8783)
|
acrodysostosis
(MONDO_0019797)
|
Strong
|
|
|
PDE6A
(HGNC:8785)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
PDE6B
(HGNC:8786)
|
congenital stationary night blindness
(MONDO_0016293)
|
Limited
|
|
|
PDE6C
(HGNC:8787)
|
cone dystrophy
(MONDO_0000455)
|
Strong
|
|
|
PDE6C
(HGNC:8787)
|
achromatopsia
(MONDO_0018852)
|
Definitive
|
|
|
PDE8B
(HGNC:8794)
|
primary pigmented nodular adrenocortical disease
(MONDO_0015999)
|
Limited
|
|
|
PDE6H
(HGNC:8790)
|
achromatopsia
(MONDO_0018852)
|
Moderate
|
|
|
PDGFRA
(HGNC:8803)
|
polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
(MONDO_0008285)
|
Limited
|
|
|
PDGFRA
(HGNC:8803)
|
gastrointestinal stromal tumor
(MONDO_0011719)
|
Definitive
|
|
|
PDGFRB
(HGNC:8804)
|
acroosteolysis-keloid-like lesions-premature aging syndrome
(MONDO_0011150)
|
Strong
|
|
|
PDGFRB
(HGNC:8804)
|
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
(MONDO_0014704)
|
Strong
|
|
|
PDHA1
(HGNC:8806)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
PDGFRB
(HGNC:8804)
|
infantile myofibromatosis
(MONDO_0016824)
|
Definitive
|
|
|
PDHB
(HGNC:8808)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
PDK3
(HGNC:8811)
|
Charcot-Marie-Tooth disease X-linked dominant 6
(MONDO_0010479)
|
Strong
|
|
|
SLC26A4
(HGNC:8818)
|
Pendred syndrome
(MONDO_0010134)
|
Definitive
|
|
|
SLC26A4
(HGNC:8818)
|
autosomal recessive nonsyndromic hearing loss 4
(MONDO_0010933)
|
Strong
|
|
|
PDYN
(HGNC:8820)
|
spinocerebellar ataxia type 23
(MONDO_0012449)
|
Strong
|
|
|
SERPINF1
(HGNC:8824)
|
osteogenesis imperfecta type 6
(MONDO_0013515)
|
Strong
|
|
|
PEX1
(HGNC:8850)
|
peroxisome biogenesis disorder 1B
(MONDO_0011101)
|
Definitive
|
|
|
PEX10
(HGNC:8851)
|
peroxisome biogenesis disorder 6B
(MONDO_0013937)
|
Strong
|
|
|
PEX10
(HGNC:8851)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PEX10
(HGNC:8851)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
PEX11B
(HGNC:8853)
|
peroxisome biogenesis disorder 14B
(MONDO_0013967)
|
Limited
|
|
|
PEX14
(HGNC:8856)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Limited
|
|
|
PEX13
(HGNC:8855)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
PEX14
(HGNC:8856)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Moderate
|
|
|
PEX16
(HGNC:8857)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
PEX16
(HGNC:8857)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Limited
|
|
|
PEX3
(HGNC:8858)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Limited
|
|
|
PEX6
(HGNC:8859)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Strong
|
|
|
PEX6
(HGNC:8859)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Strong
|
|
|
PEX7
(HGNC:8860)
|
rhizomelic chondrodysplasia punctata type 1
(MONDO_0008972)
|
Definitive
|
|
|
PEX7
(HGNC:8860)
|
adult Refsum disease
(MONDO_0009958)
|
Limited
|
|
|
PEX7
(HGNC:8860)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
ATRX
(HGNC:886)
|
alpha thalassemia-X-linked intellectual disability syndrome
(MONDO_0010519)
|
Definitive
|
|
|
ATRX
(HGNC:886)
|
intellectual disability-hypotonic facies syndrome, X-linked, 1
(MONDO_0010663)
|
Limited
|
|
|
KIF1A
(HGNC:888)
|
PEHO syndrome
(MONDO_0009841)
|
Strong
|
|
|
KIF1A
(HGNC:888)
|
hereditary spastic paraplegia 30
(MONDO_0012476)
|
Strong
|
|
|
PFN1
(HGNC:8881)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Strong
|
|
|
KIF1A
(HGNC:888)
|
hereditary sensory and autonomic neuropathy type 2
(MONDO_0019941)
|
Moderate
|
|
|
PGM3
(HGNC:8907)
|
immunodeficiency 23
(MONDO_0014353)
|
Definitive
|
|
|
KIF1A
(HGNC:888)
|
intellectual disability, autosomal dominant 9
(MONDO_0013656)
|
Strong
|
|
|
ACADL
(HGNC:88)
|
long chain acyl-CoA dehydrogenase deficiency
(MONDO_0020531)
|
Strong
|
|
|
PHGDH
(HGNC:8923)
|
PHGDH deficiency
(MONDO_0011152)
|
Strong
|
|
|
PHGDH
(HGNC:8923)
|
Neu-Laxova syndrome
(MONDO_0000179)
|
Definitive
|
|
|
PHKA2
(HGNC:8926)
|
glycogen storage disease IXa1
(MONDO_0010598)
|
Definitive
|
|
|
PHGDH
(HGNC:8923)
|
neurometabolic disorder due to serine deficiency
(MONDO_0018162)
|
Strong
|
|
|
PHKA1
(HGNC:8925)
|
glycogen storage disease IXd
(MONDO_0010362)
|
Moderate
|
|
|
PHKA2
(HGNC:8926)
|
glycogen storage disease due to liver phosphorylase kinase deficiency
(MONDO_0020693)
|
Definitive
|
|
|
PHKG2
(HGNC:8931)
|
glycogen storage disease IXc
(MONDO_0013091)
|
Strong
|
|
|
SERPINA1
(HGNC:8941)
|
cystic fibrosis
(MONDO_0009061)
|
Moderate
|
|
|
SERPINI1
(HGNC:8943)
|
familial encephalopathy with neuroserpin inclusion bodies
(MONDO_0011412)
|
Strong
|
|
|
PHKB
(HGNC:8927)
|
glycogen storage disease IXb
(MONDO_0009868)
|
Strong
|
|
|
AVP
(HGNC:894)
|
neurohypophyseal diabetes insipidus
(MONDO_0007450)
|
Moderate
|
|
|
SERPINA1
(HGNC:8941)
|
alpha 1-antitrypsin deficiency
(MONDO_0013282)
|
Definitive
|
|
|
PHKG2
(HGNC:8931)
|
glycogen storage disease due to liver phosphorylase kinase deficiency
(MONDO_0020693)
|
Strong
|
|
|
SERPINI1
(HGNC:8943)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Moderate
|
|
|
SERPINB8
(HGNC:8952)
|
exfoliative ichthyosis
(MONDO_0017339)
|
Moderate
|
|
|
PHYH
(HGNC:8940)
|
adult Refsum disease
(MONDO_0009958)
|
Definitive
|
|
|
PIGA
(HGNC:8957)
|
multiple congenital anomalies-hypotonia-seizures syndrome 2
(MONDO_0010466)
|
Moderate
|
|
|
PIGA
(HGNC:8957)
|
ferro-cerebro-cutaneous syndrome
(MONDO_0018346)
|
Strong
|
|
|
PIGA
(HGNC:8957)
|
West syndrome
(MONDO_0018097)
|
Strong
|
|
|
AVPR1A
(HGNC:895)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
PIGL
(HGNC:8966)
|
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
|
Limited
|
|
|
PIGN
(HGNC:8967)
|
Fryns syndrome
(MONDO_0009253)
|
Strong
|
|
|
PIK3C2A
(HGNC:8971)
|
oculocerebrodental syndrome
(MONDO_0034145)
|
Moderate
|
|
|
PIK3CA
(HGNC:8975)
|
vascular malformation
(MONDO_0024291)
|
Strong
|
|
|
PIK3CA
(HGNC:8975)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
PIK3CA
(HGNC:8975)
|
Cowden disease
(MONDO_0016063)
|
Moderate
|
|
|
PIK3CA
(HGNC:8975)
|
megalencephaly-capillary malformation-polymicrogyria syndrome
(MONDO_0011240)
|
Definitive
|
|
|
PIK3CD
(HGNC:8977)
|
immunodeficiency 14
(MONDO_0014222)
|
Definitive
|
|
|
PIK3R1
(HGNC:8979)
|
immunodeficiency 36
(MONDO_0014453)
|
Strong
|
|
|
PIK3R1
(HGNC:8979)
|
SHORT syndrome
(MONDO_0010026)
|
Strong
|
|
|
PIK3R2
(HGNC:8980)
|
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
(MONDO_0019375)
|
Strong
|
|
|
PIP5K1C
(HGNC:8996)
|
lethal congenital contracture syndrome 3
(MONDO_0012656)
|
Strong
|
|
|
PITX2
(HGNC:9005)
|
anterior segment dysgenesis 4
(MONDO_0007662)
|
Definitive
|
|
|
PITX2
(HGNC:9005)
|
Axenfeld-Rieger syndrome type 1
(MONDO_0008386)
|
Strong
|
|
|
PITX2
(HGNC:9005)
|
Peters anomaly
(MONDO_0011414)
|
Limited
|
|
|
PITX1
(HGNC:9004)
|
clubfoot
(MONDO_0007342)
|
Moderate
|
|
|
PITX2
(HGNC:9005)
|
aniridia
(MONDO_0019172)
|
Refuted
|
|
|
PITX2
(HGNC:9005)
|
Rieger anomaly
(MONDO_0019628)
|
Strong
|
|
|
PITX2
(HGNC:9005)
|
Axenfeld anomaly
(MONDO_0020368)
|
Strong
|
|
|
PKD1
(HGNC:9008)
|
polycystic kidney disease 1
(MONDO_0008263)
|
Definitive
|
|
|
PKD1
(HGNC:9008)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Limited
|
|
|
PKHD1
(HGNC:9016)
|
autosomal recessive polycystic kidney disease
(MONDO_0009889)
|
Definitive
|
|
|
PKD1
(HGNC:9008)
|
Caroli disease
(MONDO_0010913)
|
Limited
|
|
|
PKHD1
(HGNC:9016)
|
Caroli disease
(MONDO_0010913)
|
Moderate
|
|
|
PKP2
(HGNC:9024)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Disputed
|
|
|
PKP2
(HGNC:9024)
|
Brugada syndrome
(MONDO_0015263)
|
Limited
|
|
|
PKP2
(HGNC:9024)
|
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
|
Disputed
|
|
|
PKP2
(HGNC:9024)
|
left ventricular noncompaction
(MONDO_0018901)
|
Limited
|
|
|
PLA2G2A
(HGNC:9031)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
PLA2G6
(HGNC:9039)
|
autosomal recessive Parkinson disease 14
(MONDO_0013060)
|
Strong
|
|
|
AXIN2
(HGNC:904)
|
tooth agenesis
(MONDO_0005486)
|
Strong
|
|
|
AXIN2
(HGNC:904)
|
oligodontia-cancer predisposition syndrome
(MONDO_0012075)
|
Strong
|
|
|
AXIN2
(HGNC:904)
|
craniosynostosis
(MONDO_0015469)
|
Limited
|
|
|
PLCB4
(HGNC:9059)
|
auriculocondylar syndrome 2
(MONDO_0013845)
|
Strong
|
|
|
PLCB4
(HGNC:9059)
|
auriculocondylar syndrome
(MONDO_0000107)
|
Definitive
|
|
|
PLEC
(HGNC:9069)
|
aplasia cutis congenita
(MONDO_0007145)
|
Limited
|
|
|
PLEC
(HGNC:9069)
|
epidermolysis bullosa simplex 5B, with muscular dystrophy
(MONDO_0009181)
|
Strong
|
|
|
PLEC
(HGNC:9069)
|
autosomal recessive limb-girdle muscular dystrophy type 2Q
(MONDO_0013390)
|
Moderate
|
|
|
PLEC
(HGNC:9069)
|
congenital myasthenic syndrome
(MONDO_0018940)
|
Limited
|
|
|
PLEC
(HGNC:9069)
|
epidermolysis bullosa simplex
(MONDO_0017610)
|
Definitive
|
|
|
PLG
(HGNC:9071)
|
hypoplasminogenemia
(MONDO_0009009)
|
Moderate
|
|
|
SERPINF2
(HGNC:9075)
|
alpha-2-plasmin inhibitor deficiency
(MONDO_0009883)
|
Limited
|
|
|
PLOD2
(HGNC:9082)
|
Bruck syndrome 2
(MONDO_0012217)
|
Strong
|
|
|
PLN
(HGNC:9080)
|
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
|
Moderate
|
|
|
PLOD2
(HGNC:9082)
|
Bruck syndrome
(MONDO_0017195)
|
Definitive
|
|
|
PLOD3
(HGNC:9083)
|
bone fragility with contractures, arterial rupture, and deafness
(MONDO_0012892)
|
Strong
|
|
|
PLXND1
(HGNC:9107)
|
Mobius syndrome
(MONDO_0008006)
|
Limited
|
|
|
PLP1
(HGNC:9086)
|
Pelizaeus-Merzbacher disease, classic form
(MONDO_0017222)
|
Strong
|
|
|
PLXND1
(HGNC:9107)
|
persistent truncus arteriosus
(MONDO_0018072)
|
Limited
|
|
|
PMP2
(HGNC:9117)
|
Charcot-Marie-Tooth disease
(MONDO_0015626)
|
Strong
|
|
|
PMP22
(HGNC:9118)
|
Charcot-Marie-Tooth disease type 1A
(MONDO_0007309)
|
Definitive
|
|
|
PMP22
(HGNC:9118)
|
Charcot-Marie-Tooth disease type 1E
(MONDO_0007311)
|
Limited
|
|
|
PMP22
(HGNC:9118)
|
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
|
Strong
|
|
|
PMP22
(HGNC:9118)
|
hereditary neuropathy with liability to pressure palsies
(MONDO_0008087)
|
Definitive
|
|
|
PMS1
(HGNC:9121)
|
Lynch syndrome
(MONDO_0005835)
|
Disputed
|
|
|
PMS2
(HGNC:9122)
|
Lynch syndrome
(MONDO_0005835)
|
Definitive
|
|
|
PMS2
(HGNC:9122)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
PMS2
(HGNC:9122)
|
Muir-Torre syndrome
(MONDO_0008018)
|
Limited
|
|
|
PMS2
(HGNC:9122)
|
prostate cancer
(MONDO_0008315)
|
Limited
|
|
|
PMS2
(HGNC:9122)
|
ovarian cancer
(MONDO_0008170)
|
Limited
|
|
|
PMS2
(HGNC:9122)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
PMS2
(HGNC:9122)
|
mismatch repair cancer syndrome 1
(MONDO_0010159)
|
Definitive
|
|
|
EXOSC9
(HGNC:9137)
|
pontocerebellar hypoplasia type 1
(MONDO_0016396)
|
Strong
|
|
|
PRRX1
(HGNC:9142)
|
craniosynostosis
(MONDO_0015469)
|
Strong
|
|
|
B2M
(HGNC:914)
|
MHC class I deficiency
(MONDO_0011476)
|
Limited
|
|
|
PHOX2B
(HGNC:9143)
|
Haddad syndrome
(MONDO_0020493)
|
Strong
|
|
|
PNKD
(HGNC:9153)
|
Tourette syndrome
(MONDO_0007661)
|
Limited
|
|
|
PNKP
(HGNC:9154)
|
microcephaly, seizures, and developmental delay
(MONDO_0013254)
|
Definitive
|
|
|
PNKP
(HGNC:9154)
|
ataxia - oculomotor apraxia type 4
(MONDO_0014557)
|
Moderate
|
|
|
PNLIP
(HGNC:9155)
|
pancreatic triacylglycerol lipase deficiency
(MONDO_0013700)
|
Limited
|
|
|
POLE
(HGNC:9177)
|
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
(MONDO_0014058)
|
Limited
|
|
|
POLA1
(HGNC:9173)
|
X-linked intellectual disability, van Esch type
(MONDO_0015601)
|
Strong
|
|
|
POLE
(HGNC:9177)
|
IMAGe syndrome
(MONDO_0013873)
|
Strong
|
|
|
POLD1
(HGNC:9175)
|
mandibular hypoplasia-deafness-progeroid syndrome
(MONDO_0014157)
|
Strong
|
|
|
POLA1
(HGNC:9173)
|
X-linked reticulate pigmentary disorder
(MONDO_0010523)
|
Limited
|
|
|
POLG
(HGNC:9179)
|
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
(MONDO_0011835)
|
Definitive
|
|
|
POLG
(HGNC:9179)
|
spinocerebellar ataxia with epilepsy
(MONDO_0016809)
|
Limited
|
|
|
POLG
(HGNC:9179)
|
autosomal recessive progressive external ophthalmoplegia
(MONDO_0016810)
|
Strong
|
|
|
POLE
(HGNC:9177)
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
(MONDO_0032684)
|
Moderate
|
|
|
POLG
(HGNC:9179)
|
mitochondrial neurogastrointestinal encephalomyopathy
(MONDO_0017575)
|
Moderate
|
|
|
POLG
(HGNC:9179)
|
autosomal dominant progressive external ophthalmoplegia
(MONDO_0008003)
|
Strong
|
|
|
POLG
(HGNC:9179)
|
mitochondrial DNA depletion syndrome 4a
(MONDO_0008758)
|
Strong
|
|
|
POLG
(HGNC:9179)
|
Leigh syndrome
(MONDO_0009723)
|
Strong
|
|
|
POLG2
(HGNC:9180)
|
mitochondrial DNA depletion syndrome
(MONDO_0018158)
|
Limited
|
|
|
POLG2
(HGNC:9180)
|
autosomal dominant progressive external ophthalmoplegia
(MONDO_0008003)
|
Strong
|
|
|
POLG
(HGNC:9179)
|
recessive mitochondrial ataxia syndrome
(MONDO_0019791)
|
Strong
|
|
|
ACADSB
(HGNC:91)
|
2-methylbutyryl-CoA dehydrogenase deficiency
(MONDO_0012392)
|
Strong
|
|
|
POMC
(HGNC:9201)
|
inherited obesity
(MONDO_0019182)
|
Limited
|
|
|
POMT1
(HGNC:9202)
|
autosomal recessive limb-girdle muscular dystrophy type 2K
(MONDO_0012248)
|
Limited
|
|
|
POLH
(HGNC:9181)
|
xeroderma pigmentosum variant type
(MONDO_0010214)
|
Definitive
|
|
|
POMT1
(HGNC:9202)
|
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
|
Definitive
|
|
|
PON1
(HGNC:9204)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Disputed
|
|
|
POMT1
(HGNC:9202)
|
muscle-eye-brain disease
(MONDO_0018939)
|
Strong
|
|
|
PON2
(HGNC:9205)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
POMC
(HGNC:9201)
|
obesity due to pro-opiomelanocortin deficiency
(MONDO_0012335)
|
Definitive
|
|
|
PON3
(HGNC:9206)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
POU3F3
(HGNC:9216)
|
snijders blok-fisher syndrome
(MONDO_0032830)
|
Strong
|
|
|
POU3F4
(HGNC:9217)
|
X-linked mixed hearing loss with perilymphatic gusher
(MONDO_0010576)
|
Strong
|
|
|
POU4F3
(HGNC:9220)
|
autosomal dominant nonsyndromic hearing loss 15
(MONDO_0011226)
|
Definitive
|
|
|
POU4F3
(HGNC:9220)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Strong
|
|
|
B4GALT1
(HGNC:924)
|
B4GALT1-congenital disorder of glycosylation
(MONDO_0011772)
|
Moderate
|
|
|
PPARG
(HGNC:9236)
|
PPARG-related familial partial lipodystrophy
(MONDO_0011448)
|
Definitive
|
|
|
PPM1D
(HGNC:9277)
|
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
(MONDO_0044318)
|
Strong
|
|
|
PPP1CB
(HGNC:9282)
|
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
|
Strong
|
|
|
PPM1D
(HGNC:9277)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
PDP1
(HGNC:9279)
|
pyruvate dehydrogenase phosphatase deficiency
(MONDO_0012120)
|
Moderate
|
|
|
B4GALT7
(HGNC:930)
|
Ehlers-Danlos syndrome, spondylodysplastic type, 1
(MONDO_0020682)
|
Strong
|
|
|
PPP1CB
(HGNC:9282)
|
Noonan syndrome-like disorder with loose anagen hair 2
(MONDO_0054588)
|
Strong
|
|
|
PPP2R2B
(HGNC:9305)
|
spinocerebellar ataxia type 12
(MONDO_0011439)
|
Definitive
|
|
|
PPP3CA
(HGNC:9314)
|
developmental and epileptic encephalopathy 91
(MONDO_0020630)
|
Strong
|
|
|
PRDM5
(HGNC:9349)
|
brittle cornea syndrome 2
(MONDO_0013605)
|
Strong
|
|
|
PPP3CC
(HGNC:9316)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
PRDX3
(HGNC:9354)
|
spinocerebellar ataxia, autosomal recessive 32
(MONDO_0859245)
|
Moderate
|
|
|
PRDM5
(HGNC:9349)
|
Axenfeld-Rieger syndrome
(MONDO_0019187)
|
Limited
|
|
|
PPP2R5D
(HGNC:9312)
|
syndromic intellectual disability
(MONDO_0000508)
|
Definitive
|
|
|
PRDX1
(HGNC:9352)
|
methylmalonic aciduria and homocystinuria type cblC
(MONDO_0010184)
|
Moderate
|
|
|
PRF1
(HGNC:9360)
|
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
|
Definitive
|
|
|
SLC26A5
(HGNC:9359)
|
autosomal recessive nonsyndromic hearing loss 61
(MONDO_0013471)
|
Moderate
|
|
|
PPP2R5D
(HGNC:9312)
|
Hogue-Janssens syndrome 1
(MONDO_0014602)
|
Strong
|
|
|
PRKCD
(HGNC:9399)
|
common variable immunodeficiency
(MONDO_0015517)
|
Limited
|
|
|
ZMYND8
(HGNC:9397)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
PRKRA
(HGNC:9438)
|
dystonia 16
(MONDO_0012789)
|
Strong
|
|
|
BAG3
(HGNC:939)
|
distal hereditary motor neuropathy
(MONDO_0018894)
|
Limited
|
|
|
DNAJC3
(HGNC:9439)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|
|
PRNP
(HGNC:9449)
|
inherited Creutzfeldt-Jakob disease
(MONDO_0007403)
|
Definitive
|
|
|
PROC
(HGNC:9451)
|
hereditary thrombophilia due to congenital protein C deficiency
(MONDO_0019145)
|
Definitive
|
|
|
PRNP
(HGNC:9449)
|
Gerstmann-Straussler-Scheinker syndrome
(MONDO_0007656)
|
Strong
|
|
|
PRNP
(HGNC:9449)
|
fatal familial insomnia
(MONDO_0010808)
|
Definitive
|
|
|
PRODH
(HGNC:9453)
|
hyperprolinemia type 1
(MONDO_0009400)
|
Strong
|
|
|
PROM1
(HGNC:9454)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
PROM1
(HGNC:9454)
|
cone-rod dystrophy
(MONDO_0015993)
|
Definitive
|
|
|
PROM1
(HGNC:9454)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Strong
|
|
|
PROM1
(HGNC:9454)
|
Stargardt disease
(MONDO_0019353)
|
Moderate
|
|
|
PLPBP
(HGNC:9457)
|
pyridoxine-dependent epilepsy
(MONDO_0009945)
|
Strong
|
|
|
PROP1
(HGNC:9455)
|
combined pituitary hormone deficiencies, genetic form
(MONDO_0013099)
|
Definitive
|
|
|
PROS1
(HGNC:9456)
|
hereditary thrombophilia due to congenital protein S deficiency
(MONDO_0019144)
|
Definitive
|
|
|
PRKAG2
(HGNC:9386)
|
lethal congenital glycogen storage disease of heart
(MONDO_0009867)
|
Limited
|
|
|
PRKACB
(HGNC:9381)
|
Ellis-van Creveld syndrome
(MONDO_0009162)
|
Limited
|
|
|
PRKAR1A
(HGNC:9388)
|
primary pigmented nodular adrenocortical disease
(MONDO_0015999)
|
Definitive
|
|
|
PRKAR1A
(HGNC:9388)
|
acrodysostosis
(MONDO_0019797)
|
Definitive
|
|
|
PRKAG2
(HGNC:9386)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Definitive
|
|
|
PRPS1
(HGNC:9462)
|
phosphoribosylpyrophosphate synthetase superactivity
(MONDO_0010395)
|
Moderate
|
|
|
PRKAR1B
(HGNC:9390)
|
Marbach-Schaaf neurodevelopmental syndrome
(MONDO_0859214)
|
Strong
|
|
|
PRPS1
(HGNC:9462)
|
hearing loss, X-linked 1
(MONDO_0010577)
|
Definitive
|
|
|
PRSS12
(HGNC:9477)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Limited
|
|
|
PRSS1
(HGNC:9475)
|
hereditary chronic pancreatitis
(MONDO_0008185)
|
Definitive
|
|
|
LONP1
(HGNC:9479)
|
congenital diaphragmatic hernia
(MONDO_0005711)
|
Strong
|
|
|
PRPH
(HGNC:9461)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Limited
|
|
|
LONP1
(HGNC:9479)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
HTRA1
(HGNC:9476)
|
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
(MONDO_0014768)
|
Strong
|
|
|
PSEN1
(HGNC:9508)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
PSEN1
(HGNC:9508)
|
Pick disease
(MONDO_0008243)
|
Limited
|
|
|
LONP1
(HGNC:9479)
|
CODAS syndrome
(MONDO_0010879)
|
Definitive
|
|
|
PSEN2
(HGNC:9509)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Limited
|
|
|
BARD1
(HGNC:952)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
PRKAG2
(HGNC:9386)
|
Wolff-Parkinson-White syndrome
(MONDO_0008685)
|
Definitive
|
|
|
NKX3-2
(HGNC:951)
|
spondylo-megaepiphyseal-metaphyseal dysplasia
(MONDO_0013228)
|
Limited
|
|
|
PRKAR1A
(HGNC:9388)
|
Carney complex
(MONDO_0015285)
|
Definitive
|
|
|
PRF1
(HGNC:9360)
|
familial hemophagocytic lymphohistiocytosis 2
(MONDO_0011337)
|
Definitive
|
|
|
BARD1
(HGNC:952)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Moderate
|
|
|
BARD1
(HGNC:952)
|
hereditary nonpolyposis colon cancer
(MONDO_0018630)
|
Limited
|
|
|
PSMB8
(HGNC:9545)
|
proteosome-associated autoinflammatory syndrome
(MONDO_0009726)
|
Definitive
|
|
|
PSMC3
(HGNC:9549)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
PSMC5
(HGNC:9552)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
PSMD12
(HGNC:9557)
|
Stankiewicz-Isidor syndrome
(MONDO_0054591)
|
Strong
|
|
|
PSTPIP1
(HGNC:9580)
|
autoinflammatory syndrome
(MONDO_0019751)
|
Disputed
|
|
|
PTCH1
(HGNC:9585)
|
holoprosencephaly
(MONDO_0016296)
|
Limited
|
|
|
PSTPIP1
(HGNC:9580)
|
recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome
(MONDO_0016676)
|
Definitive
|
|
|
PSTPIP1
(HGNC:9580)
|
pyogenic arthritis-pyoderma gangrenosum-acne syndrome
(MONDO_0011462)
|
Strong
|
|
|
PTCH1
(HGNC:9585)
|
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
renal cell carcinoma
(MONDO_0005086)
|
Moderate
|
|
|
PTDSS1
(HGNC:9587)
|
Lenz-Majewski hyperostotic dwarfism
(MONDO_0007892)
|
Definitive
|
|
|
PTCH2
(HGNC:9586)
|
nevoid basal cell carcinoma syndrome
(MONDO_0007187)
|
Refuted
|
|
|
PTEN
(HGNC:9588)
|
leiomyosarcoma
(MONDO_0005058)
|
Limited
|
|
|
PTEN
(HGNC:9588)
|
Cowden disease
(MONDO_0016063)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
Proteus-like syndrome
(MONDO_0017571)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
PTEN hamartoma tumor syndrome
(MONDO_0017623)
|
Definitive
|
|
|
PTEN
(HGNC:9588)
|
Bannayan-Riley-Ruvalcaba syndrome
(MONDO_0007924)
|
Definitive
|
|
|
SLC33A1
(HGNC:95)
|
Huppke-Brendel syndrome
(MONDO_0013772)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
metaphyseal chondrodysplasia, Jansen type
(MONDO_0007982)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
chondrodysplasia Blomstrand type
(MONDO_0008970)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
primary failure of tooth eruption
(MONDO_0007434)
|
Definitive
|
|
|
HACD1
(HGNC:9639)
|
congenital myopathy
(MONDO_0019952)
|
Strong
|
|
|
PTEN
(HGNC:9588)
|
Lhermitte-Duclos disease
(MONDO_0019002)
|
Strong
|
|
|
PTH1R
(HGNC:9608)
|
Eiken syndrome
(MONDO_0010803)
|
Strong
|
|
|
PTHLH
(HGNC:9607)
|
brachydactyly type E
(MONDO_0019677)
|
Strong
|
|
|
PTPN11
(HGNC:9644)
|
Costello syndrome
(MONDO_0009026)
|
Refuted
|
|
|
PTPN11
(HGNC:9644)
|
metachondromatosis
(MONDO_0007979)
|
Strong
|
|
|
BAZ2B
(HGNC:963)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
PTPN11
(HGNC:9644)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Definitive
|
|
|
PTPN11
(HGNC:9644)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Limited
|
|
|
PTPN11
(HGNC:9644)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
PTPN22
(HGNC:9652)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Moderate
|
|
|
PTPN22
(HGNC:9652)
|
rheumatoid arthritis
(MONDO_0008383)
|
Definitive
|
|
|
PTPRJ
(HGNC:9673)
|
colorectal cancer
(MONDO_0005575)
|
Limited
|
|
|
BBS2
(HGNC:967)
|
ciliopathy
(MONDO_0005308)
|
Limited
|
|
|
PTPRQ
(HGNC:9679)
|
autosomal recessive nonsyndromic hearing loss 84A
(MONDO_0013249)
|
Strong
|
|
|
BBS2
(HGNC:967)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
BBS2
(HGNC:967)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
PTS
(HGNC:9689)
|
BH4-deficient hyperphenylalaninemia A
(MONDO_0009863)
|
Definitive
|
|
|
BBS4
(HGNC:969)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
BBS5
(HGNC:970)
|
Bardet-Biedl syndrome 5
(MONDO_0014434)
|
Moderate
|
|
|
BBS5
(HGNC:970)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
PEX19
(HGNC:9713)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Moderate
|
|
|
PEX2
(HGNC:9717)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PEX19
(HGNC:9713)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Limited
|
|
|
PEX2
(HGNC:9717)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Definitive
|
|
|
PEX5
(HGNC:9719)
|
rhizomelic chondrodysplasia punctata type 5
(MONDO_0014743)
|
Strong
|
|
|
PEX5
(HGNC:9719)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PYCR1
(HGNC:9721)
|
geroderma osteodysplastica
(MONDO_0009271)
|
Limited
|
|
|
PYCR1
(HGNC:9721)
|
autosomal recessive cutis laxa type 2B
(MONDO_0013051)
|
Strong
|
|
|
ALDH18A1
(HGNC:9722)
|
ALDH18A1-related de Barsy syndrome
(MONDO_0009053)
|
Strong
|
|
|
ALDH18A1
(HGNC:9722)
|
hereditary spastic paraplegia 9A
(MONDO_0011006)
|
Strong
|
|
|
ALDH18A1
(HGNC:9722)
|
autosomal recessive complex spastic paraplegia type 9B
(MONDO_0014702)
|
Strong
|
|
|
ALDH18A1
(HGNC:9722)
|
cutis laxa, autosomal dominant 3
(MONDO_0014706)
|
Moderate
|
|
|
PYGL
(HGNC:9725)
|
glycogen storage disease VI
(MONDO_0009294)
|
Definitive
|
|
|
RAB28
(HGNC:9768)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
RAB7A
(HGNC:9788)
|
Charcot-Marie-Tooth disease type 2B
(MONDO_0010949)
|
Definitive
|
|
|
RAC1
(HGNC:9801)
|
intellectual disability, autosomal dominant 48
(MONDO_0030913)
|
Strong
|
|
|
RAD50
(HGNC:9816)
|
Nijmegen breakage syndrome-like disorder
(MONDO_0013118)
|
Limited
|
|
|
RAD50
(HGNC:9816)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
RAB7A
(HGNC:9788)
|
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
|
Strong
|
|
|
RAD51
(HGNC:9817)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Limited
|
|
|
RAD51
(HGNC:9817)
|
Fanconi anemia
(MONDO_0019391)
|
Limited
|
|
|
RAD51
(HGNC:9817)
|
familial congenital mirror movements
(MONDO_0016558)
|
Limited
|
|
|
RAD51C
(HGNC:9820)
|
Fanconi anemia complementation group O
(MONDO_0013248)
|
Limited
|
|
|
RAD51C
(HGNC:9820)
|
hereditary breast ovarian cancer syndrome
(MONDO_0003582)
|
Definitive
|
|
|
RAD51C
(HGNC:9820)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Strong
|
|
|
RAD51D
(HGNC:9823)
|
hereditary breast ovarian cancer syndrome
(MONDO_0003582)
|
Strong
|
|
|
RAD51C
(HGNC:9820)
|
Fanconi anemia
(MONDO_0019391)
|
Moderate
|
|
|
RAF1
(HGNC:9829)
|
Noonan syndrome with multiple lentigines
(MONDO_0007893)
|
Strong
|
|
|
RAF1
(HGNC:9829)
|
Costello syndrome
(MONDO_0009026)
|
Limited
|
|
|
RAD51D
(HGNC:9823)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Moderate
|
|
|
RAF1
(HGNC:9829)
|
LEOPARD syndrome 2
(MONDO_0012691)
|
Moderate
|
|
|
RAF1
(HGNC:9829)
|
cardiofaciocutaneous syndrome
(MONDO_0015280)
|
Limited
|
|
|
RAF1
(HGNC:9829)
|
Noonan syndrome
(MONDO_0018997)
|
Definitive
|
|
|
RAG1
(HGNC:9831)
|
immunodeficiency disease
(MONDO_0021094)
|
Definitive
|
|
|
RAG2
(HGNC:9832)
|
Omenn syndrome
(MONDO_0011338)
|
Definitive
|
|
|
RAI1
(HGNC:9834)
|
Potocki-Lupski syndrome
(MONDO_0012574)
|
Strong
|
|
|
BCHE
(HGNC:983)
|
butyrylcholinesterase deficiency
(MONDO_0015270)
|
Definitive
|
|
|
RANBP2
(HGNC:9848)
|
familial acute necrotizing encephalopathy
(MONDO_0011953)
|
Moderate
|
|
|
RAPSN
(HGNC:9863)
|
fetal akinesia deformation sequence 1
(MONDO_0100101)
|
Moderate
|
|
|
RAPSN
(HGNC:9863)
|
postsynaptic congenital myasthenic syndrome
(MONDO_0020344)
|
Definitive
|
|
|
RARB
(HGNC:9865)
|
Matthew-Wood syndrome
(MONDO_0011010)
|
Moderate
|
|
|
BCKDHA
(HGNC:986)
|
maple syrup urine disease
(MONDO_0009563)
|
Definitive
|
|
|
RARB
(HGNC:9865)
|
microphthalmia, syndromic 12
(MONDO_0014229)
|
Strong
|
|
|
RASA2
(HGNC:9872)
|
Noonan syndrome
(MONDO_0018997)
|
Limited
|
|
|
RASAL1
(HGNC:9873)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
RB1
(HGNC:9884)
|
melanoma
(MONDO_0005105)
|
Limited
|
|
|
RB1
(HGNC:9884)
|
hereditary retinoblastoma
(MONDO_0018160)
|
Definitive
|
|
|
RB1
(HGNC:9884)
|
retinoblastoma
(MONDO_0008380)
|
Definitive
|
|
|
RBP3
(HGNC:9921)
|
retinitis pigmentosa
(MONDO_0019200)
|
Moderate
|
|
|
KDM5A
(HGNC:9886)
|
congenital heart disease
(MONDO_0005453)
|
Limited
|
|
|
RBBP8
(HGNC:9891)
|
Jawad syndrome
(MONDO_0009622)
|
Strong
|
|
|
RBBP8
(HGNC:9891)
|
Seckel syndrome
(MONDO_0019342)
|
Strong
|
|
|
RBM8A
(HGNC:9905)
|
thrombocytopenia-absent radius syndrome
(MONDO_0010121)
|
Definitive
|
|
|
PRPH2
(HGNC:9942)
|
adult-onset foveomacular vitelliform dystrophy
(MONDO_0011979)
|
Limited
|
|
|
OPN1LW
(HGNC:9936)
|
blue cone monochromacy
(MONDO_0010563)
|
Definitive
|
|
|
PRPH2
(HGNC:9942)
|
central areolar choroidal dystrophy
(MONDO_0008982)
|
Strong
|
|
|
PRPH2
(HGNC:9942)
|
fundus albipunctatus
(MONDO_0007639)
|
Limited
|
|
|
PRPH2
(HGNC:9942)
|
retinitis punctata albescens
(MONDO_0018877)
|
Limited
|
|
|
PRPH2
(HGNC:9942)
|
Leber congenital amaurosis
(MONDO_0018998)
|
Limited
|
|
|
PRPH2
(HGNC:9942)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
PRPH2
(HGNC:9942)
|
inherited retinal dystrophy
(MONDO_0019118)
|
Definitive
|
|
|
PRPH2
(HGNC:9942)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
PRPH2
(HGNC:9942)
|
multifocal pattern dystrophy simulating fundus flavimaculatus
(MONDO_0020382)
|
Limited
|
|
|
RECQL
(HGNC:9948)
|
breast cancer
(MONDO_0007254)
|
Disputed
|
|
|
RECQL
(HGNC:9948)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Strong
|
|
|
RECQL4
(HGNC:9949)
|
Baller-Gerold syndrome
(MONDO_0009039)
|
Strong
|
|
|
RECQL4
(HGNC:9949)
|
osteosarcoma
(MONDO_0009807)
|
Strong
|
|
|
RECQL4
(HGNC:9949)
|
rapadilino syndrome
(MONDO_0009955)
|
Limited
|
|
|
RECQL4
(HGNC:9949)
|
Rothmund-Thomson syndrome
(MONDO_0010002)
|
Definitive
|
|
|
RECQL5
(HGNC:9950)
|
breast cancer
(MONDO_0007254)
|
Limited
|
|
|
RECQL5
(HGNC:9950)
|
coronary artery disorder
(MONDO_0005010)
|
Limited
|
|
|
RELN
(HGNC:9957)
|
ankylosing spondylitis
(MONDO_0005306)
|
Limited
|
|
|
RELN
(HGNC:9957)
|
autosomal dominant epilepsy with auditory features
(MONDO_0010898)
|
Strong
|
|
|
DPF2
(HGNC:9964)
|
Coffin-Siris syndrome
(MONDO_0015452)
|
Strong
|
|
|
RELN
(HGNC:9957)
|
lissencephaly with cerebellar hypoplasia
(MONDO_0019450)
|
Definitive
|
|
|
RERE
(HGNC:9965)
|
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
(MONDO_0014857)
|
Strong
|
|
|
REST
(HGNC:9966)
|
hereditary gingival fibromatosis
(MONDO_0016070)
|
Strong
|
|
|
RET
(HGNC:9967)
|
Hirschsprung disease, susceptibility to, 1
(MONDO_0007723)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
multiple endocrine neoplasia type 2B
(MONDO_0008082)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
familial medullary thyroid carcinoma
(MONDO_0007958)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
pheochromocytoma
(MONDO_0008233)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
multiple endocrine neoplasia type 2A
(MONDO_0008234)
|
Definitive
|
|
|
RET
(HGNC:9967)
|
renal agenesis, unilateral
(MONDO_0019636)
|
Limited
|
|
|
REV3L
(HGNC:9968)
|
Mobius syndrome
(MONDO_0008006)
|
Limited
|
|
|
RET
(HGNC:9967)
|
Hirschsprung disease
(MONDO_0018309)
|
Definitive
|
|
|
RFC1
(HGNC:9969)
|
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
(MONDO_0044720)
|
Strong
|
|
|
RFX2
(HGNC:9983)
|
cerebral palsy
(MONDO_0006497)
|
Limited
|
|
|
RFX3
(HGNC:9984)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
RFX5
(HGNC:9986)
|
MHC class II deficiency
(MONDO_0008855)
|
Definitive
|
|
|
RFXAP
(HGNC:9988)
|
MHC class II deficiency
(MONDO_0008855)
|
Strong
|
|
|
RFXANK
(HGNC:9987)
|
MHC class II deficiency
(MONDO_0008855)
|
Definitive
|
|