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
TAS2R7
(HGNC:14913)
colorectal cancer
(MONDO_0005575)
Limited
COG5
(HGNC:14857)
congenital disorder of glycosylation
(MONDO_0015286)
Strong
PPP1R14A
(HGNC:14871)
prostate cancer
(MONDO_0008315)
Strong
CAPN5
(HGNC:1482)
CAPN5-related vitreoretinopathy
(MONDO_0100450)
Strong
DCD
(HGNC:14669)
type 2 diabetes mellitus
(MONDO_0005148)
Limited
CAPN11
(HGNC:1478)
benign essential blepharospasm
(MONDO_0011728)
Limited
CAMP
(HGNC:1472)
psoriasis
(MONDO_0005083)
Limited
CDCA5
(HGNC:14626)
Cornelia de Lange syndrome
(MONDO_0016033)
Limited
SPATA2
(HGNC:14681)
psoriasis
(MONDO_0005083)
Strong
DSCAML1
(HGNC:14656)
pituitary stalk interruption syndrome
(MONDO_0019828)
Limited
MRPS7
(HGNC:14499)
Perrault syndrome
(MONDO_0017312)
Strong
TINAG
(HGNC:14599)
pectus excavatum
(MONDO_0008213)
Limited
TINAG
(HGNC:14599)
dermatophytosis
(MONDO_0004678)
Strong
NET1
(HGNC:14592)
attention deficit-hyperactivity disorder
(MONDO_0007743)
Limited
VPS16
(HGNC:14584)
dystonic disorder
(MONDO_0003441)
Strong
KIF13A
(HGNC:14566)
progressive supranuclear palsy
(MONDO_0019037)
Moderate
KIF13A
(HGNC:14566)
Fuchs' endothelial dystrophy
(MONDO_0005321)
Limited
CLEC4E
(HGNC:14555)
pulmonary tuberculosis
(MONDO_0006052)
Limited
RASGRP3
(HGNC:14545)
systemic lupus erythematosus
(MONDO_0007915)
Strong
RASGRP3
(HGNC:14545)
oral cavity cancer
(MONDO_0005515)
Moderate
Showing 6401–6420 of 6681