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
SPG21
(HGNC:20373)
hereditary spastic paraplegia
(MONDO_0019064)
 Moderate
SQOR
(HGNC:20390)
Leigh syndrome
(MONDO_0009723)
 Strong
LRFN5
(HGNC:20360)
autism spectrum disorder
(MONDO_0005258)
 Limited
PLEKHG3
(HGNC:20364)
autism
(MONDO_0005260)
 Limited
SPTSSA
(HGNC:20361)
hereditary spastic paraplegia
(MONDO_0019064)
 Moderate
SMOC1
(HGNC:20318)
microphthalmia with limb anomalies
(MONDO_0008800)
 Strong
LRFN5
(HGNC:20360)
intellectual disability
(MONDO_0001071)
 Limited
UBR7
(HGNC:20344)
Li-Campeau syndrome
(MONDO_0030963)
 Moderate
TGDS
(HGNC:20324)
Catel-Manzke syndrome
(MONDO_0014507)
 Strong
CHAMP1
(HGNC:20311)
intellectual disability
(MONDO_0001071)
 Strong
ALG5
(HGNC:20266)
autosomal dominant polycystic kidney disease
(MONDO_0004691)
 Strong
SFMBT1
(HGNC:20255)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
LRRC10
(HGNC:20264)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
SFMBT1
(HGNC:20255)
colorectal cancer
(MONDO_0005575)
 Limited
SFMBT1
(HGNC:20255)
Poland syndrome
(MONDO_0008262)
 Limited
AJUBA
(HGNC:20250)
esophageal squamous cell carcinoma
(MONDO_0005580)
 Limited
KIF26A
(HGNC:20226)
Hirschsprung disease
(MONDO_0018309)
 Moderate
VRTN
(HGNC:20223)
Alzheimer disease
(MONDO_0004975)
 Limited
CLCA4
(HGNC:2018)
colorectal cancer
(MONDO_0005575)
 Limited
DNAAF2
(HGNC:20188)
primary ciliary dyskinesia
(MONDO_0016575)
 Strong
Showing 6081–6100 of 6681