Megalencephaly cutis marmorata telangiectatica congenita

Disease Term Disease ID Gene Symbol Classification References Source
Megalencephaly cutis marmorata telangiectatica congenita C1865285 AKT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22729224, 23745724, 25416470, 25523067, 28086757 -
PIK3CA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19011570, 22729223, 22729224, 26593112, 27030595 -
PIK3R2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22729224, 24497998, 26520804, 28086757 -