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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
AMHR2
(HGNC:465)
|
persistent Mullerian duct syndrome
(MONDO_0009857)
|
Strong
|
|
|
GSTZ1
(HGNC:4643)
|
maleylacetoacetate isomerase deficiency
(MONDO_0060527)
|
Moderate
|
|
|
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)
|
Moderate
|
|
|
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)
|
Strong
|
|
|
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)
|
Moderate
|
|
|
GRM1
(HGNC:4593)
|
spinocerebellar ataxia 44
(MONDO_0033479)
|
Moderate
|
|
|
GRIN2B
(HGNC:4586)
|
West syndrome
(MONDO_0018097)
|
Moderate
|
|
|
GRIN2C
(HGNC:4587)
|
Alzheimer disease
(MONDO_0004975)
|
Limited
|
|
|
GRIN2A
(HGNC:4585)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
GRIN2A
(HGNC:4585)
|
Landau-Kleffner syndrome
(MONDO_0009509)
|
Strong
|
|
|
GRIN2A
(HGNC:4585)
|
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
|
Strong
|
|
|
AMACR
(HGNC:451)
|
alpha-methylacyl-CoA racemase deficiency
(MONDO_0013681)
|
Strong
|
|
|
KISS1R
(HGNC:4510)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Strong
|
|