Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia
0.400 FusionGene disease ORPHANET Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL. 22523564 2012
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia
0.400 FusionGene disease ORPHANET Thus, imatinib may be very effective for treating the early cardiac involvement of FIP1L1-PDGFRA-positive CEL, but it needs to be used cautiously. 17988989 2007
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia
0.400 FusionGene disease ORPHANET FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia: A Low-Burden Disease with Dramatic Response to Imatinib - A Report of 5 Cases from South India. 24764730 2014
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia
0.400 FusionGene disease ORPHANET We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases. 16502585 2006
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.300 FusionGene disease ORPHANET PDGFRA rearrangement leading to hyper-eosinophilia, T-lymphoblastic lymphoma, myeloproliferative neoplasm and precursor B-cell acute lymphoblastic leukemia. 21304535 2011
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.300 FusionGene disease ORPHANET Therapy-related acute myeloid leukemia with eosinophilia, basophilia, t(4;14)(q12;q24) and PDGFRA rearrangement: a case report and review of the literature. 26191303 2015
Precursor B-cell lymphoblastic leukemia
0.300 FusionGene disease ORPHANET Here, we report a rare case of therapy-related acute myeloid leukemia with PDGFRA rearrangement after chemotherapy for prior B lymphoblastic leukemia (B-ALL). 26191303 2015
Precursor B-cell lymphoblastic leukemia
0.300 FusionGene disease ORPHANET PDGFRA rearrangement leading to hyper-eosinophilia, T-lymphoblastic lymphoma, myeloproliferative neoplasm and precursor B-cell acute lymphoblastic leukemia. 21304535 2011
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
0.300 FusionGene disease ORPHANET Myeloid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, and FGFR1: a review. 23489324 2013
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. 15146165 2004
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate. 16638875 2006
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR We determined the KIT and PDGFRA mutation status of 1,105 unique GISTs using a combination of denaturing high-performance liquid chromatography and direct sequencing. 15928335 2005
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CGI
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR We performed a cytogenetic analysis and screened for mutations of the KIT and PDGFRA kinase domains in 26 resistant GISTs. 15685537 2005
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors. 22745105 2012
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. 22718859 2012
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Efficacy of Imatinib in Patients with Platelet-Derived Growth Factor Receptor Alpha-Mutated Gastrointestinal Stromal Tumors. 26130666 2016
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. 14645423 2003
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Effects of PKC412, nilotinib, and imatinib against GIST-associated PDGFRA mutants with differential imatinib sensitivity. 17087936 2006
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Activity of dasatinib, a dual SRC/ABL kinase inhibitor, and IPI-504, a heat shock protein 90 inhibitor, against gastrointestinal stromal tumor-associated PDGFRAD842V mutation. 18794084 2008
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. 16954519 2006
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation group CLINVAR Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. 12949711 2003
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.600 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma
0.490 CausalMutation disease CGI