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Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
Search gene/disease/HGNC/MONDO or name
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Gene
Disease
Score
Actions
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)
Strong
SPTA1
(HGNC:11272)
hereditary spherocytosis
(MONDO_0019350)
Strong
STAG2
(HGNC:11355)
acute myeloid leukemia
(MONDO_0018874)
Strong
TNNI3
(HGNC:11947)
restrictive cardiomyopathy
(MONDO_0005201)
Definitive
TNNI3
(HGNC:11947)
hypertrophic cardiomyopathy
(MONDO_0005045)
Definitive
CD40LG
(HGNC:11935)
hyper-IgM syndrome
(MONDO_0003947)
Definitive
TBX1
(HGNC:11592)
DiGeorge syndrome
(MONDO_0008564)
Strong
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)
Moderate
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)
Strong
TFAP2A
(HGNC:11742)
branchiooculofacial syndrome
(MONDO_0007235)
Definitive
TCOF1
(HGNC:11654)
Treacher-Collins syndrome
(MONDO_0002457)
Definitive
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