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Gene–disease association summaries
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
|
|