Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.030 AlteredExpression disease BEFREE TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells. 29265583 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.030 GeneticVariation disease BEFREE Mutation analysis of the MCM gene in Korean patients with MMA. 15781199 2005
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.030 GeneticVariation disease BEFREE Four different forms of isolated MMA have been described: mut MMA associated with defects in the MCM apoenzyme, and phenotypically divided into two subtypes mut- and mut0 MMA, and three different defects involved in the synthesis of the active form of the cofactor adenosylcobalamin, termed cbl MMA, and classified into three different complementation groups cblA, cblB, and cblH associated with defects in the MMAA and MMAB genes and with an unidentified protein, respectively. 15781192 2005