DisGeNET - a database of gene-disease associations

Pheochromocytoma, C0031511

Variant: rs104894304 ×

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:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

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

27279923

2016

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

25275255

2014

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

23175444

2013

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations.

23433498

2013

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.

22456618

2012

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Systematic screening and treatment evaluation of hereditary neck paragangliomas.

17563904

2007

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

16317055

2006

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Carotid body paraganglioma and SDHD mutation in a Greek family.

16080474

2005

dbSNP:

rs104894304

SDHD

0.700

CausalMutation

CLINVAR

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

11343322

2001