Pyruvate carboxylase deficiency disease

Disease Term Disease ID Gene Symbol Classification References Source
Pyruvate Carboxylase Deficiency Disease C0034341 PC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12112657, 18676167, 19306334, 23430542, 25058219, 27604308 -
Pyruvate carboxylase deficiency, benign type 353320 PC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pyruvate carboxylase deficiency, infantile type 353308 PC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pyruvate carboxylase deficiency, severe neonatal type 353314 PC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -