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
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
Showing 1561–1580 of 6699