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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
GUCA1A
(HGNC:4678)
central areolar choroidal dystrophy
(MONDO_0008982)
 Moderate
GUCA1A
(HGNC:4678)
cone dystrophy
(MONDO_0000455)
 Strong
AMHR2
(HGNC:465)
persistent Mullerian duct syndrome
(MONDO_0009857)
 Strong
GSTZ1
(HGNC:4643)
maleylacetoacetate isomerase deficiency
(MONDO_0060527)
 Limited
GSTM3
(HGNC:4635)
cystic fibrosis
(MONDO_0009061)
 Limited
GSS
(HGNC:4624)
glutathione synthetase deficiency with 5-oxoprolinuria
(MONDO_0009947)
 Definitive
GRN
(HGNC:4601)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Strong
GSK3B
(HGNC:4617)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
GRN
(HGNC:4601)
neuronal ceroid lipofuscinosis 11
(MONDO_0013866)
 Moderate
GRN
(HGNC:4601)
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
(MONDO_0011842)
 Definitive
GRM6
(HGNC:4598)
congenital stationary night blindness
(MONDO_0016293)
 Definitive
ABCB4
(HGNC:45)
progressive familial intrahepatic cholestasis type 3
(MONDO_0011214)
 Definitive
ABCB4
(HGNC:45)
low phospholipid associated cholelithiasis
(MONDO_0010939)
 Strong
GRM1
(HGNC:4593)
autosomal recessive spinocerebellar ataxia 13
(MONDO_0013905)
 Strong
GRM1
(HGNC:4593)
spinocerebellar ataxia 44
(MONDO_0033479)
 Moderate
GRIN2B
(HGNC:4586)
West syndrome
(MONDO_0018097)
 Strong
GRIN2C
(HGNC:4587)
Alzheimer disease
(MONDO_0004975)
 Limited
GRIN2A
(HGNC:4585)
neurodevelopmental disorder
(MONDO_0700092)
 Definitive
GRIN2A
(HGNC:4585)
Landau-Kleffner syndrome
(MONDO_0009509)
 Strong
GRIN2A
(HGNC:4585)
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
 Strong
Showing 1381–1400 of 6681