DisGeNET - a database of gene-disease associations

Pheochromocytoma, C0031511

Variant: rs104894308 ×

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:

rs104894308

SDHD ; TIMM8B

0.700

CausalMutation

CLINVAR

Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.

20098451

2010

dbSNP:

rs104894308

SDHD ; TIMM8B

0.700

CausalMutation

CLINVAR

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

19454582

2009

dbSNP:

rs104894308

SDHD ; TIMM8B

0.700

CausalMutation

CLINVAR

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

19258401

2009

dbSNP:

rs104894308

SDHD ; TIMM8B

0.700

CausalMutation

CLINVAR

W43X SDHD mutation in sporadic head and neck paraganglioma.

18561749

2008

dbSNP:

rs104894308

SDHD ; TIMM8B

0.700

CausalMutation

CLINVAR

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation.

18211978

2008

dbSNP:

rs104894308

SDHD ; TIMM8B

0.700

CausalMutation

CLINVAR

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

12111639

2002