Stats
Gene–disease association summaries
Gene–Disease Browser
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
| Gene |
Disease |
Score |
Actions |
|
H6PD
(HGNC:4795)
|
cortisone reductase deficiency
(MONDO_0000193)
|
Strong
|
|
|
MACROH2A1
(HGNC:4740)
|
brachydactyly-elbow wrist dysplasia syndrome
(MONDO_0008520)
|
Limited
|
|
|
AMT
(HGNC:473)
|
glycine encephalopathy
(MONDO_0011612)
|
Definitive
|
|
|
H1-4
(HGNC:4718)
|
Rahman syndrome
(MONDO_0044323)
|
Strong
|
|
|
GYS2
(HGNC:4707)
|
glycogen storage disorder due to hepatic glycogen synthase deficiency
(MONDO_0009414)
|
Strong
|
|
|
GYS1
(HGNC:4706)
|
glycogen storage disease due to muscle and heart glycogen synthase deficiency
(MONDO_0012693)
|
Strong
|
|
|
AMPD2
(HGNC:469)
|
pontocerebellar hypoplasia type 9
(MONDO_0014351)
|
Strong
|
|
|
GYG1
(HGNC:4699)
|
polyglucosan body myopathy type 2
(MONDO_0014526)
|
Strong
|
|
|
AMPD1
(HGNC:468)
|
adenosine monophosphate deaminase deficiency
(MONDO_0013028)
|
Strong
|
|
|
GYG1
(HGNC:4699)
|
glycogen storage disease XV
(MONDO_0013291)
|
Strong
|
|
|
GUCY2D
(HGNC:4689)
|
cone-rod dystrophy
(MONDO_0015993)
|
Definitive
|
|
|
GUCY2D
(HGNC:4689)
|
cone-rod dystrophy 6
(MONDO_0011143)
|
Strong
|
|
|
GUCY2D
(HGNC:4689)
|
central areolar choroidal dystrophy
(MONDO_0008982)
|
Limited
|
|
|
GUCY2D
(HGNC:4689)
|
Leber congenital amaurosis 1
(MONDO_0008764)
|
Strong
|
|
|
AMMECR1
(HGNC:467)
|
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
(MONDO_0010263)
|
Moderate
|
|
|
GUCY2C
(HGNC:4688)
|
congenital sodium diarrhea
(MONDO_0015170)
|
Moderate
|
|
|
GUCA1A
(HGNC:4678)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
GUCA1B
(HGNC:4679)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
GUCA1A
(HGNC:4678)
|
central areolar choroidal dystrophy
(MONDO_0008982)
|
Limited
|
|
|
GUCA1A
(HGNC:4678)
|
cone dystrophy
(MONDO_0000455)
|
Strong
|
|