DisGeNET - a database of gene-disease associations

PDGFRA, platelet derived growth factor receptor alpha, 5156

N. diseases: 452; N. variants: 44

Disease: Gastrointestinal Stromal Tumors ×

Variant: rs778015444 ×

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:

rs778015444

rs778015444

Entrez Id:	5156
Gene Symbol:	PDGFRA

PDGFRA

CUI:	C0238198
Disease:

Gastrointestinal Stromal Tumors

0.010

GeneticVariation

BEFREE

Activate and resist: L576P-KIT in GIST.

2009