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!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SHARPIN
(HGNC:25321)
Alzheimer disease
(MONDO_0004975)
 Limited
ANO6
(HGNC:25240)
ankylosing spondylitis
(MONDO_0005306)
 Limited
FBXL19
(HGNC:25300)
Alzheimer disease
(MONDO_0004975)
 Limited
ANO6
(HGNC:25240)
Scott syndrome
(MONDO_0009885)
 Moderate
SGSM3
(HGNC:25228)
intellectual disability
(MONDO_0001071)
 Limited
TMEM240
(HGNC:25186)
spinocerebellar ataxia type 21
(MONDO_0011833)
 Strong
SPATA17
(HGNC:25184)
male infertility
(MONDO_0005372)
 Limited
GPRASP2
(HGNC:25169)
autism spectrum disorder
(MONDO_0005258)
 Limited
LRSAM1
(HGNC:25135)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
OTULIN
(HGNC:25118)
infantile-onset periodic fever-panniculitis-dermatosis syndrome
(MONDO_0014912)
 Definitive
AP5B1
(HGNC:25104)
sarcoidosis
(MONDO_0019338)
 Limited
SGO1
(HGNC:25088)
gastric cancer
(MONDO_0001056)
 Limited
SPICE1
(HGNC:25083)
sarcoidosis
(MONDO_0019338)
 Disputed
METTL5
(HGNC:25006)
intellectual disability
(MONDO_0001071)
 Moderate
ASTE1
(HGNC:25021)
Lynch syndrome
(MONDO_0005835)
 Disputed
UBE2T
(HGNC:25009)
Fanconi anemia
(MONDO_0019391)
 Strong
CFAP263
(HGNC:25002)
primary biliary cholangitis
(MONDO_0005388)
 Limited
CFAP263
(HGNC:25002)
systemic sclerosis
(MONDO_0005100)
 Limited
HS1BP3
(HGNC:24979)
benign essential blepharospasm
(MONDO_0011728)
 Disputed
EIF2AK1
(HGNC:24921)
autism
(MONDO_0005260)
 Limited
Showing 5841–5860 of 6681