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: C0280474
Disease:
Childhood Glioblastoma
0.020 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: C0017636
Disease:
Glioblastoma
0.020 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: C1621958
Disease:
Glioblastoma Multiforme
0.020 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: C0278878
Disease:
Adult Glioblastoma
0.020 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: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.020 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: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE NSCLC cell lines with mutant KRas-Gly12Asp had activated phosphatidylinositol 3-kinase (PI-3-K) and mitogen-activated protein/extracellular signal-regulated kinase kinase (MEK) signaling, whereas those with mutant KRas-Gly12Cys or mutant KRas-Gly12Val had activated Ral signaling and decreased growth factor-dependent Akt activation. 22247021 2012
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0017636
Disease:
Glioblastoma
0.020 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246 2007
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1621958
Disease:
Glioblastoma Multiforme
0.020 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246 2007
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0278878
Disease:
Adult Glioblastoma
0.020 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246 2007
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0280474
Disease:
Childhood Glioblastoma
0.020 GeneticVariation BEFREE Introduction of normal PTEN together with H-Ras(G12V) into U251 glioblastoma cells reduced the PI3K-dependent activation of Akt, but had no effect on vacuolation. 17210246 2007
dbSNP: rs1273593548
rs1273593548
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0585442
Disease:
Osteosarcoma of bone
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: C0029463
Disease:
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: 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: rs1129293
rs1129293
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C2062441
Disease:
Influenza A
0.010 GeneticVariation BEFREE In humans, we tested the genetic association of disease severity in influenza A/H1N1pdm09-infected patients with three potentially functional <i>PIK3CG</i> single-nucleotide polymorphisms (SNPs), rs1129293, rs17847825, and rs2230460. 29867955 2018
dbSNP: rs1226137439
rs1226137439
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0206180
Disease:
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE ALCL xenografts selected <i>in vivo</i> showed recurrent N1178H (5/10 mice) and G1269A (4/10 mice) mutations. 30322862 2018
dbSNP: rs12536620
rs12536620
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE Moreover, rs12536620 has been observed to be related to ADHD-C type and symptom scores. 29097255 2018
dbSNP: rs12667819
rs12667819
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder
0.010 GeneticVariation BEFREE In our study, PIK3CG gene rs12667819 was consistently shown to be associated with ADHD risk in dominant model (OR=1.656, 95% CI=1.229-2.232), ADHD-I type (OR=2.278, 95% CI=1.666-4.632), and symptom scores. 29097255 2018
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: rs1129293
rs1129293
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE Stable CHD patients with TT genotype of rs1129293 allele and GG genotype of rs17398575 allele showed poorer prognosis compared to those with other genotypes and patients with acute coronary syndromes. 28885323 2017
dbSNP: rs1129293
rs1129293
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE This study explores the associations between PIK3CG single nucleotide polymorphisms (SNPs, rs1129293 and rs17398575) and patient responsiveness to clopidogrel to evaluate the risks of ischemia in patients with coronary heart disease (CHD). 28885323 2017
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: 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