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Gene–disease association summaries
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
|
|