Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype. 29486293 2018
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN PDGFRA-mutant syndrome. 25975287 2015
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 GeneticVariation disease BEFREE KIT mutations, compared with PDGFRA mutations and wild type, represent a poorer prognostic marker in high risk or malignant GISTs. 24674052 2014
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 SomaticCausalMutation disease ORPHANET Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. 23730622 2013
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CTD_human Proapoptotic activity of bortezomib in gastrointestinal stromal tumor cells. 20028860 2010
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN Increased PDGFRalpha activation disrupts connective tissue development and drives systemic fibrosis. 19217431 2009
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect. 17566086 2007
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 17087943 2006
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. 14699510 2004
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
0.610 Biomarker disease CLINGEN PDGFRA activating mutations in gastrointestinal stromal tumors. 12522257 2003