Phosphoenolpyruvate carboxykinase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Phosphoenolpyruvate carboxykinase deficiency 2880, C0268194 PCK1 Causal Pathogenic evidence from ClinVar 24863970, 26971250, 28216384 ClinVar
PCK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2044592 -
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial C1849821 NRL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PCK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Phosphoenolpyruvate carboxykinase 2 deficiency C2931278 PCK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -