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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
STIM1
(HGNC:11386)
tubular aggregate myopathy
(MONDO_0008051)
 Definitive
SPTLC1
(HGNC:11277)
hereditary sensory and autonomic neuropathy type 1
(MONDO_0018213)
 Definitive
SURF1
(HGNC:11474)
Leigh syndrome
(MONDO_0009723)
 Definitive
SPTB
(HGNC:11274)
hereditary spherocytosis
(MONDO_0019350)
 Definitive
SPTBN2
(HGNC:11276)
spinocerebellar ataxia type 5
(MONDO_0010848)
 Definitive
SPTA1
(HGNC:11272)
hereditary spherocytosis
(MONDO_0019350)
 Definitive
STAG2
(HGNC:11355)
acute myeloid leukemia
(MONDO_0018874)
 Strong
TNNI3
(HGNC:11947)
restrictive cardiomyopathy
(MONDO_0005201)
 Strong
TNNI3
(HGNC:11947)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Definitive
CD40LG
(HGNC:11935)
hyper-IgM syndrome
(MONDO_0003947)
 Definitive
TBX1
(HGNC:11592)
DiGeorge syndrome
(MONDO_0008564)
 Definitive
TK2
(HGNC:11831)
mitochondrial DNA depletion syndrome
(MONDO_0018158)
 Definitive
TINF2
(HGNC:11824)
dyskeratosis congenita
(MONDO_0015780)
 Definitive
THRA
(HGNC:11796)
thyroid hormone resistance syndrome
(MONDO_0001328)
 Strong
THBD
(HGNC:11784)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Strong
TGM1
(HGNC:11777)
lamellar ichthyosis
(MONDO_0017778)
 Definitive
TGM1
(HGNC:11777)
autosomal recessive congenital ichthyosis
(MONDO_0017265)
 Definitive
TFE3
(HGNC:11752)
neoplasm with perivascular epithelioid cell differentiation
(MONDO_0006359)
 Strong
TGFB2
(HGNC:11768)
Loeys-Dietz syndrome
(MONDO_0018954)
 Strong
TFR2
(HGNC:11762)
hereditary hemochromatosis
(MONDO_0006507)
 Definitive
Showing 5081–5100 of 6681