Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.120 GeneticVariation BEFREE Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. 26851524

2016

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0039075
Disease: Syndactyly
Syndactyly
0.120 GeneticVariation BEFREE Furthermore, one of our patients with a PIK3CA mutation lacks syndactyly/polydactyly which is a characteristic of MCAP. 24497998

2014