DisGeNET - a database of gene-disease associations

PDGFRA, platelet derived growth factor receptor alpha, 5156

N. diseases: 452; N. variants: 44

Disease: Stomach Neoplasms ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.130

GeneticVariation

group

BEFREE

GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology.

16258521

2006

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.130

GeneticVariation

group

BEFREE

In 7 cases, all small gastric tumors, a mutation in the platelet-derived growth factor receptor a (PDGFRA) gene was detected.

16203282

2005

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.130

GeneticVariation

group

BEFREE

A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential.

15146165

2004

CUI:	C0038356
Disease:	Stomach Neoplasms

Stomach Neoplasms

0.130

Biomarker

group

HPO