rs121913279, PIK3CA

N. diseases: 101
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Venous malformation
CUI: C0265950
Disease: Venous malformation
0.010 GeneticVariation BEFREE We have generated a mouse model that faithfully mirrors human VM through mosaic expression of Pik3ca(H1047R), a constitutively active mutant of the p110α isoform of phosphatidylinositol 3-kinase (PI3K), in the embryonic mesoderm. 27030595 2016