Disease Term Disease ID Gene Symbol Classification References Source
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 70472 LRPPRC Causal Pathogenic evidence from ClinVar - ClinVar
Congenital lactic acidosis C4025276 OGDH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PET100 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25293719 -