|
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
|
|