PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Disease: Primary hyperoxaluria, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		0.010 Biomarker disease BEFREE Primary Hyperoxaluria type I (PH1) is a rare disease due to the deficit of peroxisomal alanine:glyoxylate aminotransferase (AGT), a homodimeric pyridoxal-5'-phosphate (PLP) enzyme present in humans as major (Ma) and minor (Mi) allele. 24990153 2014