DisGeNET - a database of gene-disease associations

SDHD, succinate dehydrogenase complex subunit D, 6392

N. diseases: 348; N. variants: 69

Disease: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA ×

Variant: rs1050032491 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1050032491

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1847319
Disease:

PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA

0.700

CausalMutation

CLINVAR

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

21348866

2012

dbSNP:

rs1050032491

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1847319
Disease:

PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA

0.700

CausalMutation

CLINVAR

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

17973943

2008

dbSNP:

rs1050032491

Entrez Id:	6392
Gene Symbol:	SDHD

SDHD

CUI:	C1847319
Disease:

PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA

0.700

CausalMutation

CLINVAR

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

11391798

2001