rs104886003, PIK3CA

N. diseases: 71
Disease: Gallbladder Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation BEFREE Mutations in exons 9 (E542K, E545G, E545K) and 20 (H1047L and H1047R) of PI3K were determined by direct sequencing in 130 cases of GBC. 26947513 2016
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.720 GeneticVariation BEFREE The E545K mutation promoted GBC progression through enhanced binding to EGFR and activating downstream akt activity. 27317099 2016