Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism
0.010 Biomarker group BEFREE Primary hyperoxaluria type 1 (PH1) is an inborn error of metabolism resulting from a deficiency of alanine:glyoxylate aminotransferase (AGXT; EC 2.6.1.44). 12777626 2003