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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
OSTM1
(HGNC:21652)
autosomal recessive osteopetrosis
(MONDO_0019026)
 Strong
ZNF460
(HGNC:21628)
schizophrenia
(MONDO_0005090)
 Disputed
CEP85L
(HGNC:21638)
lissencephaly spectrum disorders
(MONDO_0018838)
 Strong
LNPK
(HGNC:21610)
hepatic veno-occlusive disease
(MONDO_0019514)
 Limited
LNPK
(HGNC:21610)
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
(MONDO_0060761)
 Limited
LUC7L2
(HGNC:21608)
myelodysplastic syndrome
(MONDO_0018881)
 Limited
THEMIS
(HGNC:21569)
rheumatoid arthritis
(MONDO_0008383)
 Limited
AIG1
(HGNC:21607)
osteoarthritis
(MONDO_0005178)
 Limited
NKAPL
(HGNC:21584)
schizophrenia
(MONDO_0005090)
 Limited
THEMIS
(HGNC:21569)
type 1 diabetes mellitus
(MONDO_0005147)
 Limited
THEMIS
(HGNC:21569)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
TSPYL4
(HGNC:21559)
Dravet syndrome
(MONDO_0100135)
 Limited
CNGA1
(HGNC:2148)
retinitis pigmentosa
(MONDO_0019200)
 Strong
CNGA2
(HGNC:2149)
isolated congenital anosmia
(MONDO_0007137)
 Strong
SLAMF6
(HGNC:21392)
rheumatoid arthritis
(MONDO_0008383)
 Moderate
ECHDC1
(HGNC:21489)
breast cancer
(MONDO_0007254)
 Disputed
OGFRL1
(HGNC:21378)
cherubism
(MONDO_0007315)
 Limited
SLAMF6
(HGNC:21392)
Graves disease
(MONDO_0005364)
 Moderate
RNF146
(HGNC:21336)
breast cancer
(MONDO_0007254)
 Moderate
SKOR1
(HGNC:21326)
restless legs syndrome
(MONDO_0005391)
 Limited
Showing 6001–6020 of 6681