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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

Gene–Disease Browser

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Gene Disease Score Actions
MECOM
(HGNC:3498)
radioulnar synostosis with amegakaryocytic thrombocytopenia 2
(MONDO_0014758)
Strong
MECOM
(HGNC:3498)
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
(MONDO_0011555)
Strong
EVC
(HGNC:3497)
acrofacial dysostosis, Weyers type
(MONDO_0008673)
Moderate
ETV6
(HGNC:3495)
thrombocytopenia 5
(MONDO_0014536)
Strong
AHR
(HGNC:348)
foveal hypoplasia
(MONDO_0044203)
Disputed
ETS1
(HGNC:3488)
systemic lupus erythematosus
(MONDO_0007915)
Strong
ETS1
(HGNC:3488)
congenital heart disease
(MONDO_0005453)
Limited
ETFB
(HGNC:3482)
multiple acyl-CoA dehydrogenase deficiency
(MONDO_0009282)
Strong
ESRRB
(HGNC:3473)
autosomal recessive nonsyndromic hearing loss 35
(MONDO_0012060)
Moderate
ESR1
(HGNC:3467)
estrogen resistance syndrome
(MONDO_0014148)
Strong
ESR2
(HGNC:3468)
familial medullary thyroid carcinoma
(MONDO_0007958)
Limited
ERF
(HGNC:3444)
Chitayat syndrome
(MONDO_0014956)
Strong
ERF
(HGNC:3444)
craniosynostosis 4
(MONDO_0010929)
Moderate
ERCC8
(HGNC:3439)
Cockayne syndrome type 2
(MONDO_0019570)
Strong
ERCC8
(HGNC:3439)
Cockayne syndrome type 1
(MONDO_0019569)
Definitive
ERCC8
(HGNC:3439)
UV-sensitive syndrome
(MONDO_0015797)
Limited
ERCC6
(HGNC:3438)
Cockayne syndrome type 2
(MONDO_0019570)
Strong
ERCC6
(HGNC:3438)
UV-sensitive syndrome
(MONDO_0015797)
Limited
ERCC6
(HGNC:3438)
COFS syndrome
(MONDO_0008926)
Limited
PCARE
(HGNC:34383)
retinitis pigmentosa
(MONDO_0019200)
Strong
Showing 1741–1760 of 6681