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
INTS1
(HGNC:24555)
autism spectrum disorder
(MONDO_0005258)
Limited
NEPRO
(HGNC:24496)
anauxetic dysplasia 2
(MONDO_0054561)
Limited
ARAP3
(HGNC:24097)
lymphedema
(MONDO_0019297)
Limited
GPR155
(HGNC:22951)
colorectal cancer
(MONDO_0005575)
Disputed
NACC1
(HGNC:20967)
intellectual disability
(MONDO_0001071)
Strong
TRIM50
(HGNC:19017)
Williams syndrome
(MONDO_0008678)
Limited
HDAC10
(HGNC:18128)
schizophrenia
(MONDO_0005090)
Limited
ARL6IP4
(HGNC:18076)
schizophrenia
(MONDO_0005090)
Limited
GPHB5
(HGNC:18055)
schizophrenia
(MONDO_0005090)
Limited
CEP83
(HGNC:17966)
nephronophthisis
(MONDO_0019005)
Strong
PIWIL2
(HGNC:17644)
X-linked spermatogenic failure 1
(MONDO_0056795)
Limited
DCLRE1C
(HGNC:17642)
severe combined immunodeficiency
(MONDO_0015974)
Definitive
NAGPA
(HGNC:17378)
specific language impairment
(MONDO_0000724)
Disputed
SP7
(HGNC:17321)
osteogenesis imperfecta
(MONDO_0019019)
Moderate
BRMS1
(HGNC:17262)
breast cancer
(MONDO_0007254)
Limited
CD84
(HGNC:1704)
psoriasis
(MONDO_0005083)
Disputed
AGAP1
(HGNC:16922)
cerebral palsy
(MONDO_0006497)
Limited
CRISP3
(HGNC:16904)
essential thrombocythemia
(MONDO_0005029)
Limited
PDZK1IP1
(HGNC:16887)
malignant pleural mesothelioma
(MONDO_0005112)
Limited
SPRN
(HGNC:16871)
prion disease
(MONDO_0005429)
Limited
Showing 81–100 of 6681