Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE Similar to H460 tumors, PD-0325901 as single agent or in combination with PF-04691502 significantly inhibited growth of tumor lesions in lungs in Kras(G12D-LSL) mice when treatment started at adenocarcinoma stage (at 14 weeks post-Adeno-Cre inhalation). 22684718 2012
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE Combination of a MEK inhibitor at sub-MTD with a PI3K/mTOR inhibitor significantly suppresses growth of lung adenocarcinoma tumors in Kras(G12D-LSL) mice. 22684718 2012
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0238461
Disease:
Anaplastic thyroid carcinoma
0.010 GeneticVariation BEFREE We have generated mouse models that develop ATC ([Pten, p53](thyr-/-) mice) and follicular thyroid cancer with areas of poor differentiation (Pten(thyr-/-),Kras(G12D) mice). 23509868 2013
dbSNP: rs773297988
rs773297988
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE The gain-of-function Q84R polymorphism in TRIB3 is associated with increased risk of diabetes and atherosclerosis. 26855171 2016
dbSNP: rs773297988
rs773297988
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE The gain-of-function Q84R polymorphism in TRIB3 is associated with increased risk of diabetes and atherosclerosis. 26855171 2016
dbSNP: rs1331108652
rs1331108652
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0004364
Disease:
Autoimmune Diseases
0.010 GeneticVariation BEFREE The C1858T single nucleotide polymorphism in PTPN22, which is the gene encoding lymphoid tyrosine phosphatase (LYP), confers increased risk for various autoimmune disorders in Caucasians. 23333624 2013
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Formalin-fixed paraffin-embedded tumour specimens from 118 HER2-overexpressing breast cancer patients treated with radical local therapy and trastuzumab in adjuvant setting were used for the assessment of: (1) PIK3CA gene mutations (p.H1047R and p.E545K) by qPCR, and (2) expression of Ki-67, EGFR, MUC4, HER3 and PTEN by immunohistochemistry. 28123607 2017
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation. 21775521 2011
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE Tumorigenesis was measured in the Kras(G12D/+);Ptf1a(Cre/+) mouse model of PDA; these mice were crossed with mice with pancreas-specific disruption of genes encoding PI3K p110α (Pik3ca), p110β (Pik3cb), or RAC1 (Rac1). 25311989 2014
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0596263
Disease:
Carcinogenesis
0.020 GeneticVariation BEFREE Administration of a CXCL16-neutralizing antibody to KRAS(G12D) mice reduced activation of PI3K signaling to AKT and NF-κB, blocking carcinogenesis. 25683115 2015
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165 2008
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Finally, RNA profiling of lung epithelial cells (BEAS-2B) expressing a mutant allele of PIK3 (E545K) identified a network of transcription factors such as MYC, FOS and HMGA1, not previously recognised to be associated with aberrant PI3K signalling in lung cancer. 22363436 2012
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE In vivo activity of combined PI3K/mTOR and MEK inhibition in a Kras(G12D);Pten deletion mouse model of ovarian cancer. 21632463 2011
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C4721610
Disease:
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE We also found that an activating (E545K) Pik3ca mutation, unlike Pten inactivation or Pik3ca H1047R mutation, cannot cooperate with Arid1a loss to promote ovarian cancer development in the mouse. 26279473 2016
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE These findings provide evidence that the PI3K E542K and E545K/β-catenin/SIRT3 signaling axis regulates glucose metabolism and proliferation in cervical cancers with PIK3CA mutations, suggesting therapeutic targets in the treatment of cervical cancers. 30547809 2018
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE The PIK3CA E542K and E545K mutations promote glycolysis and proliferation via induction of the β-catenin/SIRT3 signaling pathway in cervical cancer. 30547809 2018
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.010 GeneticVariation BEFREE Notably, multiple mutations were identified in phosphoinositide-3-kinase (PI3K), catalytic, alpha polypeptide (PIK3CA) (H1047R, E→lysine at codon 545 [E545K], and H→proline at codon 701 [H701P]) that were not observed previously in osteosarcoma. 22006429 2012
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We examined the anti-proliferative effect of miR-143#12 and the mechanism in human colon cancer DLD-1 cell (G13D) and other cell types harboring K-Ras mutations. 29498789 2018
dbSNP: rs752021744
rs752021744
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. 25367198 2014
dbSNP: rs752742313
rs752742313
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0220668
Disease:
Congenital contractural arachnodactyly
0.010 GeneticVariation BEFREE PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladder carcinomas (E542K, 4%), and one of 50 hepatocellular carcinomas (H1047R, 2%). 18181165 2008
dbSNP: rs361072
rs361072
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE Allele C of rs361072 is associated with a protection from IR in obese and non-obese adults, but has no significant effect, however, on diabetes risk in obese or non-obese Europeans. 19097921 2009
dbSNP: rs773297988
rs773297988
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE The gain-of-function Q84R polymorphism in TRIB3 is associated with increased risk of diabetes and atherosclerosis. 26855171 2016
dbSNP: rs361072
rs361072
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE Allele C of rs361072 is associated with a protection from IR in obese and non-obese adults, but has no significant effect, however, on diabetes risk in obese or non-obese Europeans. 19097921 2009
dbSNP: rs773297988
rs773297988
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The gain-of-function Q84R polymorphism in TRIB3 is associated with increased risk of diabetes and atherosclerosis. 26855171 2016
dbSNP: rs361072
rs361072
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE No association with HOMA-IR or type 2 diabetes (odds ratio 1.07, P = 0.5) was identified, and obesity did not interact with rs361072 on these traits. 20107106 2010