DisGeNET - a database of gene-disease associations

Gastrointestinal Stromal Tumors, C0238198

Variant: rs587778661 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587778661

SDHC

0.700

GeneticVariation

CLINVAR

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

27279923

2016

dbSNP:

rs587778661

SDHC

0.700

GeneticVariation

CLINVAR

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

24102379

2014

dbSNP:

rs587778661

SDHC

0.700

GeneticVariation

CLINVAR

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

23666964

2013

dbSNP:

rs587778661

SDHC

0.700

GeneticVariation

CLINVAR

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.

19351833

2009