Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5091
Gene Symbol: PC
PC
0.120 Biomarker phenotype BEFREE This paper describes the molecular characterization of two male siblings displaying the complex (Type B) form of pyruvate carboxylase (PC) deficiency in which severe neonatal lactic acidosis and redox abnormalities results in death within the first few weeks of life. 12112657 2002
Entrez Id: 5091
Gene Symbol: PC
PC
0.120 GeneticVariation phenotype BEFREE Children with inborn errors of PC metabolism have lactic acidosis, hypoglycemia, and mental retardation. 9585002 1998
Entrez Id: 5091
Gene Symbol: PC
PC
0.120 Biomarker phenotype HPO
Entrez Id: 5091
Gene Symbol: PC
PC
0.120 CausalMutation phenotype CLINVAR