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
GAMT
(HGNC:4136)
guanidinoacetate methyltransferase deficiency
(MONDO_0012999)
 Definitive
GBE1
(HGNC:4180)
adult polyglucosan body disease
(MONDO_0009897)
 Definitive
ALDOB
(HGNC:417)
hereditary fructose intolerance
(MONDO_0009249)
 Definitive
GAN
(HGNC:4137)
giant axonal neuropathy
(MONDO_0000128)
 Definitive
GALT
(HGNC:4135)
galactosemia
(MONDO_0018116)
 Definitive
GALT
(HGNC:4135)
classic galactosemia
(MONDO_0009258)
 Definitive
GALNT3
(HGNC:4125)
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
(MONDO_0100251)
 Definitive
GALNT3
(HGNC:4125)
familial tumoral calcinosis
(MONDO_0018891)
 Definitive
GALNS
(HGNC:4122)
mucopolysaccharidosis type 4
(MONDO_0018938)
 Definitive
GALNS
(HGNC:4122)
mucopolysaccharidosis type 4A
(MONDO_0009659)
 Definitive
GALC
(HGNC:4115)
Krabbe disease
(MONDO_0009499)
 Definitive
ALDH5A1
(HGNC:408)
succinic semialdehyde dehydrogenase deficiency
(MONDO_0010083)
 Definitive
G6PC1
(HGNC:4056)
glycogen storage disease I
(MONDO_0002413)
 Definitive
SLC37A4
(HGNC:4061)
glycogen storage disease Ib
(MONDO_0009288)
 Definitive
FZD4
(HGNC:4042)
exudative vitreoretinopathy
(MONDO_0019516)
 Definitive
FUCA1
(HGNC:4006)
fucosidosis
(MONDO_0009254)
 Definitive
ALB
(HGNC:399)
hyperthyroxinemia, familial dysalbuminemic
(MONDO_0014448)
 Definitive
ALB
(HGNC:399)
congenital analbuminemia
(MONDO_0014449)
 Definitive
FTL
(HGNC:3999)
neuroferritinopathy
(MONDO_0011638)
 Definitive
FTL
(HGNC:3999)
hereditary hyperferritinemia with congenital cataracts
(MONDO_0010952)
 Definitive
Showing 4661–4680 of 6699