rs121913274, PIK3CA

N. diseases: 33
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 CausalMutation CLINVAR
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
0.710 CausalMutation CLINVAR
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.700 CausalMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. 24265155 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. 20619739 2010
COWDEN SYNDROME 5
CUI: C3554518
Disease: COWDEN SYNDROME 5
0.700 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016