Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation UNIPROT "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
Megalencephaly cutis marmorata telangiectatica congenita
0.770 GeneticVariation UNIPROT De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012