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
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
Showing 1381–1400 of 6699