rs121913279, PIK3CA

N. diseases: 101
Disease: Congenital abnormality of vein ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital abnormality of vein
CUI: C2937220
Disease: Congenital abnormality of vein
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