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
DOLK
(HGNC:23406)
DK1-congenital disorder of glycosylation
(MONDO_0012556)
 Moderate
LRMDA
(HGNC:23405)
oculocutaneous albinism type 7
(MONDO_0014070)
 Moderate
FREM1
(HGNC:23399)
BNAR syndrome
(MONDO_0012165)
 Moderate
FREM1
(HGNC:23399)
oculotrichoanal syndrome
(MONDO_0009560)
 Moderate
CR2
(HGNC:2336)
common variable immunodeficiency
(MONDO_0015517)
 Limited
CR2
(HGNC:2336)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
PXK
(HGNC:23326)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
A2ML1
(HGNC:23336)
Noonan syndrome
(MONDO_0018997)
 Disputed
HKDC1
(HGNC:23302)
retinitis pigmentosa
(MONDO_0019200)
 Limited
ETHE1
(HGNC:23287)
Leigh syndrome
(MONDO_0009723)
 Limited
MYPN
(HGNC:23246)
cap myopathy
(MONDO_0015753)
 Limited
MYPN
(HGNC:23246)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
UBA5
(HGNC:23230)
developmental and epileptic encephalopathy, 44
(MONDO_0014933)
 Strong
MYPN
(HGNC:23246)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
SPATA13
(HGNC:23222)
primary angle-closure glaucoma
(MONDO_0001868)
 Moderate
CPOX
(HGNC:2321)
harderoporphyria
(MONDO_0030048)
 Strong
PIGO
(HGNC:23215)
hyperphosphatasia-intellectual disability syndrome
(MONDO_0016596)
 Strong
PIGW
(HGNC:23213)
hyperphosphatasia with intellectual disability syndrome 5
(MONDO_0014457)
 Strong
FANCM
(HGNC:23168)
Fanconi anemia
(MONDO_0019391)
 Disputed
FANCM
(HGNC:23168)
breast cancer
(MONDO_0007254)
 Strong
Showing 2521–2540 of 6699