|
SOCS1
(HGNC:19383)
|
autoimmune disease
(MONDO_0007179)
|
Strong
|
|
|
CHKB
(HGNC:1938)
|
megaconial type congenital muscular dystrophy
(MONDO_0011246)
|
Strong
|
|
|
SIN3A
(HGNC:19353)
|
congenital diaphragmatic hernia
(MONDO_0005711)
|
Moderate
|
|
|
KIF21A
(HGNC:19349)
|
congenital fibrosis of extraocular muscles type 1
(MONDO_0021083)
|
Strong
|
|
|
CUX2
(HGNC:19347)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Moderate
|
|
|
MMAB
(HGNC:19331)
|
methylmalonic aciduria, cblB type
(MONDO_0009614)
|
Definitive
|
|
|
KIF21A
(HGNC:19349)
|
congenital fibrosis of extraocular muscles
(MONDO_0007614)
|
Definitive
|
|
|
CHI3L1
(HGNC:1932)
|
schizophrenia
(MONDO_0005090)
|
Limited
|
|
|
P3H1
(HGNC:19316)
|
osteogenesis imperfecta type 8
(MONDO_0012581)
|
Strong
|
|
|
P3H1
(HGNC:19316)
|
osteogenesis imperfecta type 3
(MONDO_0009804)
|
Strong
|
|
|
CHD3
(HGNC:1918)
|
Snijders Blok-Campeau syndrome
(MONDO_0032600)
|
Definitive
|
|
|
MTO1
(HGNC:19261)
|
mitochondrial disease
(MONDO_0044970)
|
Strong
|
|
|
TTC5
(HGNC:19274)
|
autosomal recessive non-syndromic intellectual disability
(MONDO_0019502)
|
Moderate
|
|
|
CHD4
(HGNC:1919)
|
Sifrim-Hitz-Weiss syndrome
(MONDO_0014946)
|
Strong
|
|
|
CHEK1
(HGNC:1925)
|
hereditary breast carcinoma
(MONDO_0016419)
|
Disputed
|
|
|
FRAS1
(HGNC:19185)
|
Fraser syndrome
(MONDO_0009046)
|
Definitive
|
|
|
KIF14
(HGNC:19181)
|
autosomal recessive primary microcephaly
(MONDO_0016660)
|
Moderate
|
|
|
CHD2
(HGNC:1917)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Moderate
|
|
|
CHD2
(HGNC:1917)
|
Lennox-Gastaut syndrome
(MONDO_0016532)
|
Moderate
|
|
|
CHD1L
(HGNC:1916)
|
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
|
Limited
|
|