DisGeNET - a database of gene-disease associations

Source: UNIPROT

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

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

UNIPROT

Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

2014

dbSNP:

rs387906780

rs387906780

SDHA

CUI:	C3279992
Disease:	PARAGANGLIOMAS 5

PARAGANGLIOMAS 5

0.800

GeneticVariation

UNIPROT

SDHA is a tumor suppressor gene causing paraganglioma.

2010