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
HELB
(HGNC:17196)
ovarian carcinoma
(MONDO_0005140)
Limited
NDUFA13
(HGNC:17194)
Leigh syndrome
(MONDO_0009723)
Moderate
OLFM1
(HGNC:17187)
type 2 diabetes mellitus
(MONDO_0005148)
Disputed
RAB3GAP2
(HGNC:17168)
Martsolf syndrome
(MONDO_0023910)
Strong
ASB10
(HGNC:17185)
open-angle glaucoma
(MONDO_0005338)
Disputed
ASB10
(HGNC:17185)
glaucoma
(MONDO_0005041)
Disputed
RAB3GAP2
(HGNC:17168)
Warburg micro syndrome
(MONDO_0016649)
Moderate
ADAMTS17
(HGNC:17109)
Weill-Marchesani syndrome
(MONDO_0018096)
Strong
IL26
(HGNC:17119)
multiple sclerosis
(MONDO_0005301)
Limited
TFIP11
(HGNC:17165)
dental caries
(MONDO_0005276)
Limited
GGA3
(HGNC:17079)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
SWAP70
(HGNC:17070)
rheumatoid arthritis
(MONDO_0008383)
Limited
SARM1
(HGNC:17074)
amyotrophic lateral sclerosis
(MONDO_0004976)
Moderate
PUF60
(HGNC:17042)
8q24.3 microdeletion syndrome
(MONDO_0014263)
Definitive
COL21A1
(HGNC:17025)
hypertensive disorder
(MONDO_0005044)
Limited
HPS5
(HGNC:17022)
Hermansky-Pudlak syndrome
(MONDO_0019312)
Strong
HSPH1
(HGNC:16969)
colorectal cancer
(MONDO_0005575)
Limited
CEP43
(HGNC:17012)
primary myelofibrosis
(MONDO_0009692)
Disputed
SEC61B
(HGNC:16993)
autosomal dominant polycystic kidney disease
(MONDO_0004691)
Limited
SEC61B
(HGNC:16993)
autosomal dominant polycystic liver disease
(MONDO_0000447)
Limited
Showing 6261–6280 of 6681