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
CD3D
(HGNC:1673)
severe combined immunodeficiency
(MONDO_0015974)
Strong
CIZ1
(HGNC:16744)
benign essential blepharospasm
(MONDO_0011728)
Limited
DHX34
(HGNC:16719)
myelodysplastic syndrome
(MONDO_0018881)
Limited
SLC17A7
(HGNC:16704)
schizophrenia
(MONDO_0005090)
Limited
EIF4ENIF1
(HGNC:16687)
premature menopause
(MONDO_0001119)
Moderate
ANP32B
(HGNC:16677)
common variable immunodeficiency
(MONDO_0015517)
Disputed
WDR17
(HGNC:16661)
colorectal cancer
(MONDO_0005575)
Disputed
MRPL44
(HGNC:16650)
hypertrophic cardiomyopathy
(MONDO_0005045)
Moderate
SLMAP
(HGNC:16643)
Brugada syndrome
(MONDO_0015263)
Limited
MRPS34
(HGNC:16618)
Leigh syndrome
(MONDO_0009723)
Moderate
LCE3D
(HGNC:16615)
psoriasis
(MONDO_0005083)
Limited
PDLIM4
(HGNC:16501)
prostate cancer
(MONDO_0008315)
Limited
LCE3C
(HGNC:16612)
psoriasis
(MONDO_0005083)
Limited
ATG4A
(HGNC:16489)
Crohn disease
(MONDO_0005011)
Limited
ADAP1
(HGNC:16486)
cerebrovascular disorder
(MONDO_0011057)
Limited
ADAP1
(HGNC:16486)
Crohn disease
(MONDO_0005011)
Limited
ADAP1
(HGNC:16486)
dementia
(MONDO_0001627)
Limited
ACAP1
(HGNC:16467)
breast cancer
(MONDO_0007254)
Strong
CGB8
(HGNC:16453)
habitual spontaneous abortion
(MONDO_0006774)
Limited
DNAJC30
(HGNC:16410)
Leber hereditary optic neuropathy
(MONDO_0010788)
Definitive
Showing 6301–6320 of 6681