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
ATAD2
(HGNC:30123)
lung cancer
(MONDO_0008903)
 Limited
REEP6
(HGNC:30078)
retinitis pigmentosa
(MONDO_0019200)
 Strong
PGLYRP4
(HGNC:30015)
Parkinson disease
(MONDO_0005180)
 Limited
RHOXF1
(HGNC:29993)
azoospermia
(MONDO_0100459)
 Strong
RHOXF1
(HGNC:29993)
male infertility
(MONDO_0005372)
 Strong
RHOXF1
(HGNC:29993)
oligospermia
(MONDO_0001913)
 Strong
OIT3
(HGNC:29953)
gout
(MONDO_0005393)
 Limited
GATAD1
(HGNC:29941)
dilated cardiomyopathy
(MONDO_0005021)
 Strong
CCDC65
(HGNC:29937)
primary ciliary dyskinesia
(MONDO_0016575)
 Moderate
COASY
(HGNC:29932)
neurodegeneration with brain iron accumulation
(MONDO_0018307)
 Strong
NUP37
(HGNC:29929)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
NUP37
(HGNC:29929)
cardiovascular disorder
(MONDO_0004995)
 Limited
MDM1
(HGNC:29917)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
CALCOCO2
(HGNC:29912)
ulcerative colitis
(MONDO_0005101)
 Strong
MDM1
(HGNC:29917)
intellectual disability
(MONDO_0001071)
 Limited
CALCOCO2
(HGNC:29912)
Crohn disease
(MONDO_0005011)
 Strong
NLRP2B
(HGNC:29887)
ovarian cancer
(MONDO_0008170)
 Limited
ISCU
(HGNC:29882)
hereditary myopathy with lactic acidosis due to ISCU deficiency
(MONDO_0009706)
 Strong
CD300LF
(HGNC:29883)
autism spectrum disorder
(MONDO_0005258)
 Limited
UBAP2L
(HGNC:29877)
neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
(MONDO_0957588)
 Strong
Showing 5581–5600 of 6681