DisGeNET - a database of gene-disease associations

Gastrointestinal Stromal Tumors, C0238198

Variant: rs762812025 ×

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:

rs762812025

SDHB

0.700

CausalMutation

CLINVAR

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

24694336

2014

dbSNP:

rs762812025

SDHB

0.700

CausalMutation

CLINVAR

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

16912137

2006

dbSNP:

rs762812025

SDHB

0.700

CausalMutation

CLINVAR

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

15328326

2004