Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
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
Showing 2881–2900 of 6699