DisGeNET - a database of gene-disease associations

Gastrointestinal Stromal Tumors, C0238198

Variant: rs786201063 ×

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:

rs786201063

SDHB

0.700

CausalMutation

CLINVAR

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

27539324

2016

dbSNP:

rs786201063

SDHB

0.700

CausalMutation

CLINVAR

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

19802898

2010

dbSNP:

rs786201063

SDHB

0.700

CausalMutation

CLINVAR

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

19454582

2009

dbSNP:

rs786201063

SDHB

0.700

CausalMutation

CLINVAR

Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

17308434

2007

dbSNP:

rs786201063

SDHB

0.700

CausalMutation

CLINVAR

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

16912137

2006