Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital macrodactylia
CUI: C0265552
Disease: Congenital macrodactylia
0.710 GeneticVariation BEFREE A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p.His1047Arg) was detected in the adipose tissue and in skin cultured fibroblasts from the macrodactyly but not in blood. 28867506 2017
Congenital macrodactylia
CUI: C0265552
Disease: Congenital macrodactylia
0.710 GeneticVariation UNIPROT Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 23100325 2013