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
ZFHX3
(HGNC:777)
spinocerebellar ataxia type 4
(MONDO_0010847)
Strong
ZFHX3
(HGNC:777)
epilepsy
(MONDO_0005027)
Limited
NFATC1
(HGNC:7775)
congenital heart disease
(MONDO_0005453)
Limited
NF2
(HGNC:7773)
NF2-related schwannomatosis
(MONDO_0007039)
Definitive
NF1
(HGNC:7765)
neurofibromatosis type 1
(MONDO_0018975)
Definitive
NF1
(HGNC:7765)
Moyamoya disease
(MONDO_0016820)
Moderate
NF1
(HGNC:7765)
neurofibromatosis-Noonan syndrome
(MONDO_0011035)
Strong
NEUROD1
(HGNC:7762)
maturity-onset diabetes of the young
(MONDO_0018911)
Moderate
NEUROD1
(HGNC:7762)
monogenic diabetes
(MONDO_0015967)
Moderate
NEUROD1
(HGNC:7762)
maturity-onset diabetes of the young type 6
(MONDO_0011668)
Moderate
SERPINC1
(HGNC:775)
hereditary antithrombin deficiency
(MONDO_0013144)
Definitive
NEU1
(HGNC:7758)
sialidosis type 1
(MONDO_0019346)
Definitive
NEU1
(HGNC:7758)
sialidosis type 2
(MONDO_0009738)
Definitive
NEK1
(HGNC:7744)
orofaciodigital syndrome type II
(MONDO_0009642)
Limited
NEFL
(HGNC:7739)
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
Strong
NEFH
(HGNC:7737)
amyotrophic lateral sclerosis
(MONDO_0004976)
Limited
NEDD4L
(HGNC:7728)
periventricular nodular heterotopia
(MONDO_0020341)
Moderate
NEB
(HGNC:7720)
lethal multiple pterygium syndrome
(MONDO_0009668)
Limited
NDUFV2
(HGNC:7717)
mitochondrial complex I deficiency
(MONDO_0100133)
Moderate
NDUFV2
(HGNC:7717)
Leigh syndrome
(MONDO_0009723)
Moderate
Showing 621–640 of 6681