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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
IGFALS
(HGNC:5468)
short stature due to primary acid-labile subunit deficiency
(MONDO_0014420)
 Strong
IGF1R
(HGNC:5465)
growth delay due to insulin-like growth factor I resistance
(MONDO_0010038)
 Strong
IGF1
(HGNC:5464)
growth delay due to insulin-like growth factor type 1 deficiency
(MONDO_0012110)
 Moderate
IFRD1
(HGNC:5456)
spinocerebellar ataxia type 18
(MONDO_0011834)
 Limited
ABCC2
(HGNC:53)
Dubin-Johnson syndrome
(MONDO_0009380)
 Strong
IFNAR1
(HGNC:5432)
immunodeficiency 106, susceptibility to viral infections
(MONDO_0030970)
 Moderate
IDUA
(HGNC:5391)
Hurler-Scheie syndrome
(MONDO_0011759)
 Definitive
IDUA
(HGNC:5391)
Scheie syndrome
(MONDO_0011760)
 Definitive
IDH3G
(HGNC:5386)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
IDH3B
(HGNC:5385)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
IDH2
(HGNC:5383)
D-2-hydroxyglutaric aciduria
(MONDO_0010924)
 Definitive
IDH1
(HGNC:5382)
Maffucci syndrome
(MONDO_0013808)
 Definitive
ANXA11
(HGNC:535)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
ID2
(HGNC:5361)
congenital heart disease
(MONDO_0005453)
 Limited
ICOS
(HGNC:5351)
common variable immunodeficiency
(MONDO_0015517)
 Strong
NOD2
(HGNC:5331)
Blau syndrome
(MONDO_0008523)
 Definitive
HSPG2
(HGNC:5273)
Schwartz-Jampel syndrome type 1
(MONDO_0100435)
 Definitive
HSPG2
(HGNC:5273)
Silverman-Handmaker type dyssegmental dysplasia
(MONDO_0009140)
 Strong
IARS1
(HGNC:5330)
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
(MONDO_0014911)
 Moderate
HSPB1
(HGNC:5246)
distal hereditary motor neuropathy type 2
(MONDO_0015352)
 Strong
Showing 1241–1260 of 6681