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

Gene–Disease Browser

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Gene Disease Score Actions
HS1BP3
(HGNC:24979)
Parkinson disease
(MONDO_0005180)
Refuted
HS1BP3
(HGNC:24979)
essential tremor
(MONDO_0003233)
Disputed
OTUD4
(HGNC:24949)
prostate cancer
(MONDO_0008315)
Disputed
GSX2
(HGNC:24959)
diencephalic-mesencephalic junction dysplasia
(MONDO_0017868)
Moderate
ZC4H2
(HGNC:24931)
Wieacker-Wolff syndrome
(MONDO_0010758)
Strong
STBD1
(HGNC:24854)
Parkinson disease
(MONDO_0005180)
Limited
LARP7
(HGNC:24912)
microcephalic primordial dwarfism, Alazami type
(MONDO_0014031)
Definitive
OTUD4
(HGNC:24949)
breast cancer
(MONDO_0007254)
Disputed
CCDC47
(HGNC:24856)
trichohepatoneurodevelopmental syndrome
(MONDO_0032645)
Moderate
PNPLA4
(HGNC:24887)
epilepsy
(MONDO_0005027)
Limited
YIPF5
(HGNC:24877)
neonatal diabetes mellitus
(MONDO_0016391)
Moderate
MOGS
(HGNC:24862)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
CCDC91
(HGNC:24855)
breast cancer
(MONDO_0007254)
Limited
CEP104
(HGNC:24866)
Joubert syndrome
(MONDO_0018772)
Strong
ENHO
(HGNC:24838)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
FN3K
(HGNC:24822)
diabetes mellitus
(MONDO_0005015)
Disputed
CIBAR2
(HGNC:24781)
ulcerative colitis
(MONDO_0005101)
Disputed
VWA2
(HGNC:24709)
congenital anomaly of kidney and urinary tract
(MONDO_0019719)
Limited
GPRASP1
(HGNC:24834)
arteriovenous hemangioma/malformation
(MONDO_0001256)
Limited
LONRF2
(HGNC:24788)
colorectal cancer
(MONDO_0005575)
Disputed
Showing 5861–5880 of 6681