Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE <b>Methods:</b> Osteosarcoma cancer cell line MG-63 was transfected with Ras gene with G12V and Y40C site mutation. 31126199 2019
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We have developed a Drosophila lung cancer model by targeting Ras1(G12V)--alone or in combination with PTEN knockdown--to the Drosophila tracheal system. 26832408 2016
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0017638
Disease:
Glioma
0.010 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134 2017
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1458155
Disease:
Mammary Neoplasms
0.010 GeneticVariation BEFREE Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype"). 28446242 2017
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE It also suggests that RAL GTPase inhibition will be an important treatment strategy for tumors harboring RAS glycine to cysteine (G12C) or glycien to valine (G12V) mutations, which are commonly found in NSCLC and pancreatic cancer. 25557115 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE We demonstrated that transient transgenic expression of KRAS(G12V) in putative neural stem and/or progenitor cells induced brain tumorigenesis. 25644510 2015
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We have developed a Drosophila lung cancer model by targeting Ras1(G12V)--alone or in combination with PTEN knockdown--to the Drosophila tracheal system. 26832408 2016
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Patients whose tumors had either mutant KRas-Gly12Cys or mutant KRas-Gly12Val had worse progression-free survival compared with patients whose tumors had other mutant KRas proteins or wild-type KRas (P = .046, median survival = 1.84 months) compared with all other mutant KRas (median survival = 3.35 months) or wild-type KRas (median survival = 1.95 months). 22247021 2012
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We have developed a Drosophila lung cancer model by targeting Ras1(G12V)--alone or in combination with PTEN knockdown--to the Drosophila tracheal system. 26832408 2016
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE It also suggests that RAL GTPase inhibition will be an important treatment strategy for tumors harboring RAS glycine to cysteine (G12C) or glycien to valine (G12V) mutations, which are commonly found in NSCLC and pancreatic cancer. 25557115 2015
dbSNP: rs1412335442
rs1412335442
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE We observed that the IGF1 *10212C>A and Ex4+2776G>A and IGF1R IVS2-70184A>G and IVS2+46329T>C variant genotypes were significantly associated with decreased pancreatic cancer risk (odds ratio [OR] range, 0.60-0.75) and that IGFBP1 Ex4+111A>G (I253M) was significantly associated with increased pancreatic cancer risk (OR=1.46) after adjusted for other risk factors and multiple comparisons (P≤.007). 21852217 2012
dbSNP: rs1412335442
rs1412335442
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE We observed that the IGF1 *10212C>A and Ex4+2776G>A and IGF1R IVS2-70184A>G and IVS2+46329T>C variant genotypes were significantly associated with decreased pancreatic cancer risk (odds ratio [OR] range, 0.60-0.75) and that IGFBP1 Ex4+111A>G (I253M) was significantly associated with increased pancreatic cancer risk (OR=1.46) after adjusted for other risk factors and multiple comparisons (P≤.007). 21852217 2012
dbSNP: rs145459032
rs145459032
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1134719
Disease:
Invasive Ductal Breast Carcinoma
0.010 GeneticVariation BEFREE HRG was found to potently induce the recruitment of the M(r) 85,000 regulatory subunit of PI3K by phosphotyrosine proteins in both nonneoplastic H16N-2 mammary epithelial cells (which express normal c-erbB-2 levels) and in the 21MT-2 and 21MT-1 cell lines, which were all isolated from a single patient with intraductal and invasive ductal carcinoma of the breast and express c-erbB-3 but not c-erbB-4 in culture. 8732665 1996
dbSNP: rs17847825
rs17847825
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C2062441
Disease:
Influenza A
0.010 GeneticVariation BEFREE We observed that SNPs rs17847825 and rs2230460 (A and T alleles, respectively) were significantly associated with protection from severe disease using the recessive model in patients infected with influenza A</span>(H1N1)pdm09. 29867955 2018
dbSNP: rs2230460
rs2230460
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE This study explores the association of PIK3CG gene single nucleotide polymorphisms (rs1129293, rs12536620, rs12667819, rs17847825, rs2230460) with ADHD in children and the relation of interaction between SNPs and environmental factors, including blood lead levels (BLLs) and feeding style. 29097255 2018
dbSNP: rs2230460
rs2230460
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C2062441
Disease:
Influenza A
0.010 GeneticVariation BEFREE We observed that SNPs rs17847825 and rs2230460 (A and T alleles, respectively) were significantly associated with protection from severe disease using the recessive model in patients infected with influenza A(H1N1)pdm09. 29867955 2018
dbSNP: rs373644334
rs373644334
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Rs45456595 (CDKN2A, Gly63Arg), rs5128 (APOC3, 3'UTR), and rs72650673 (SH2B3, Glu400Lys) were nominally associated with history of CVD, subclinical CVD, or CVD risk factors (p < 0.010). 24725463 2014
dbSNP: rs767132637
rs767132637
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808 2012
dbSNP: rs767132637
rs767132637
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808 2012
dbSNP: rs767132637
rs767132637
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0007129
Disease:
Merkel cell carcinoma
0.010 GeneticVariation BEFREE Sanger sequencing of the primary MCC tumors detected one additional PIK3CA mutation (R19K) that had not been previously described in cancer. 22261808 2012