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
PROKR2
(HGNC:15836)
septooptic dysplasia
(MONDO_0008428)
 Disputed
BSCL2
(HGNC:15832)
distal hereditary motor neuropathy
(MONDO_0018894)
 Strong
OVOL2
(HGNC:15804)
posterior polymorphous corneal dystrophy
(MONDO_0020364)
 Moderate
BSCL2
(HGNC:15832)
congenital generalized lipodystrophy type 2
(MONDO_0010020)
 Strong
BSCL2
(HGNC:15832)
neonatal diabetes mellitus
(MONDO_0016391)
 Limited
BSCL2
(HGNC:15832)
hereditary spastic paraplegia 17
(MONDO_0010043)
 Moderate
ANKRD1
(HGNC:15819)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
ANKRD1
(HGNC:15819)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
OVOL2
(HGNC:15804)
posterior polymorphous corneal dystrophy 1
(MONDO_0007378)
 Moderate
GATA5
(HGNC:15802)
tetralogy of fallot
(MONDO_0008542)
 Limited
GATA5
(HGNC:15802)
familial atrial fibrillation
(MONDO_0018054)
 Limited
GATA5
(HGNC:15802)
familial bicuspid aortic valve
(MONDO_0007194)
 Limited
ULK4
(HGNC:15784)
prostate cancer
(MONDO_0008315)
 Limited
KRIT1
(HGNC:1573)
famililal cerebral cavernous malformations
(MONDO_0031037)
 Definitive
OSBPL2
(HGNC:15761)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Moderate
OBSCN
(HGNC:15719)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
OBSCN
(HGNC:15719)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
GEMIN4
(HGNC:15717)
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
(MONDO_0060664)
 Moderate
LRPPRC
(HGNC:15714)
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
(MONDO_0009069)
 Strong
LRPPRC
(HGNC:15714)
Leigh syndrome
(MONDO_0009723)
 Strong
Showing 3321–3340 of 6699