Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
CRB1
(HGNC:2343)
nanophthalmia
(MONDO_0005514)
 Limited
CRADD
(HGNC:2340)
intellectual disability, autosomal recessive 34
(MONDO_0013785)
 Strong
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)
 Strong
CR2
(HGNC:2336)
common variable immunodeficiency
(MONDO_0015517)
 Limited
CR2
(HGNC:2336)
systemic lupus erythematosus
(MONDO_0007915)
 Disputed
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
Showing 2501–2520 of 6681