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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
ALDOA
(HGNC:414)
|
glycogen storage disease due to aldolase A deficiency
(MONDO_0012747)
|
Moderate
|
|
|
GAN
(HGNC:4137)
|
giant axonal neuropathy 1
(MONDO_0009749)
|
Moderate
|
|
|
GANAB
(HGNC:4138)
|
autosomal dominant polycystic kidney disease
(MONDO_0004691)
|
Moderate
|
|
|
B4GALNT1
(HGNC:4117)
|
hereditary spastic paraplegia 26
(MONDO_0012213)
|
Moderate
|
|
|
GALK1
(HGNC:4118)
|
galactokinase deficiency
(MONDO_0009255)
|
Definitive
|
|
|
GALE
(HGNC:4116)
|
galactose epimerase deficiency
(MONDO_0009257)
|
Strong
|
|
|
GABRG2
(HGNC:4087)
|
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
|
Strong
|
|
|
GAD1
(HGNC:4092)
|
developmental and epileptic encephalopathy 89
(MONDO_0030856)
|
Limited
|
|
|
GABRG2
(HGNC:4087)
|
childhood epilepsy with centrotemporal spikes
(MONDO_0007295)
|
Limited
|
|
|
GABRG2
(HGNC:4087)
|
epilepsy
(MONDO_0005027)
|
Definitive
|
|
|
GABRD
(HGNC:4084)
|
epilepsy
(MONDO_0005027)
|
Limited
|
|
|
GABRB3
(HGNC:4083)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
GABRB3
(HGNC:4083)
|
Lennox-Gastaut syndrome
(MONDO_0016532)
|
Strong
|
|
|
GABRB3
(HGNC:4083)
|
developmental and epileptic encephalopathy, 43
(MONDO_0014921)
|
Strong
|
|
|
GABRB3
(HGNC:4083)
|
childhood absence epilepsy
(MONDO_0010826)
|
Limited
|
|
|
GABRB1
(HGNC:4081)
|
developmental and epileptic encephalopathy, 45
(MONDO_0014942)
|
Moderate
|
|
|
GABRA1
(HGNC:4075)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Strong
|
|
|
GABRA1
(HGNC:4075)
|
juvenile myoclonic epilepsy
(MONDO_0009696)
|
Limited
|
|
|
G6PD
(HGNC:4057)
|
G6PD deficiency
(MONDO_0005775)
|
Definitive
|
|
|
GAA
(HGNC:4065)
|
glycogen storage disease II
(MONDO_0009290)
|
Definitive
|
|