Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype. 29486293

2018
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. 25975287

2015
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN Increased PDGFRalpha activation disrupts connective tissue development and drives systemic fibrosis. 19217431

2009
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation can occur in the germline state and lead to a syndrome that should not be confused with other genetic conditions associated with a predisposition to NETs and other tumors. 17566086

2007
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 17087943

2006
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN We hypothesized that the PDGFRA gene could be a predisposing gene in familial GIST. 14699510

2004
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.800 Biomarker CLINGEN Thus, KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in GISTs. 12522257

2003