DisGeNET - a database of gene-disease associations

Source: ALL

Disease: PARAGANGLIOMAS 5 ×

Variant: rs387906780 ×

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:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

28546994

2017

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.

25405498

2015

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

23612575

2014

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

24893135

2014

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.

22955521

2013

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit.

23043141

2012

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.

21505157

2011

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

CLINVAR

SDHA is a tumor suppressor gene causing paraganglioma.

20484225

2010

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

UNIPROT

SDHA is a tumor suppressor gene causing paraganglioma.

20484225

2010

dbSNP:

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

CausalMutation

CLINVAR