rs104886003, PIK3CA

N. diseases: 71
Disease: Congenital contractural arachnodactyly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital contractural arachnodactyly
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