rs2228230, PDGFRA

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Renal Cell Carcinoma
CUI: C1333001
Disease: Childhood Renal Cell Carcinoma
0.010 GeneticVariation BEFREE In patients with localized renal cell cancer, 5 of these polymorphisms in 3 genes involved in angiogenesis predicted for worse disease free survival (VEGFR2: rs10013228; PDGFRA: rs2228230) or shorter overall survival (VEGFR2: rs10013228; VEGFR3: rs6877011, rs307826) (<i>p</i> < 0.05). 29290970 2017
Malignant neoplasm of kidney
CUI: C0740457
Disease: Malignant neoplasm of kidney
0.010 GeneticVariation BEFREE In patients with localized renal cell cancer, 5 of these polymorphisms in 3 genes involved in angiogenesis predicted for worse disease free survival (VEGFR2: rs10013228; PDGFRA: rs2228230) or shorter overall survival (VEGFR2: rs10013228; VEGFR3: rs6877011, rs307826) (<i>p</i> < 0.05). 29290970 2017
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.010 GeneticVariation BEFREE In patients with localized renal cell cancer, 5 of these polymorphisms in 3 genes involved in angiogenesis predicted for worse disease free survival (VEGFR2: rs10013228; PDGFRA: rs2228230) or shorter overall survival (VEGFR2: rs10013228; VEGFR3: rs6877011, rs307826) (<i>p</i> < 0.05). 29290970 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Genetically, the tumor showed a silent mutation in exon 18 of the PDGFRA gene at codon 824 GTC > GTT (V824V) [rs2228230]. 22009637 2012
Gestational Trophoblastic Neoplasms
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
0.010 GeneticVariation BEFREE Genetically, the tumor showed a silent mutation in exon 18 of the PDGFRA gene at codon 824 GTC > GTT (V824V) [rs2228230]. 22009637 2012