rs121913279, PIK3CA

N. diseases: 68
Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 GeneticVariation BEFREE Moreover, by analyzing primary HCC tissue samples we were able to demonstrate that a hotspot mutation (H1047R) of PI3KCA, the gene encoding the catalytic subunit of PI3K, was associated with increased in vitro kinase activity of all AKT isoforms in comparison to healthy liver tissue of the patient. 23167739 2013
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 CausalMutation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222 2012
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 CausalMutation CLINVAR Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 CausalMutation CLINVAR Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 17673550 2007
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 CausalMutation CLINVAR PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 15608678 2005
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 CausalMutation CLINVAR Mutation of the PIK3CA gene in ovarian and breast cancer. 15520168 2004
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.720 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004