QPCT, glutaminyl-peptide cyclotransferase, 25797

N. diseases: 94; N. variants: 6
Disease: Hypertyrosinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1879362
Disease: Hypertyrosinemia
Hypertyrosinemia 		0.010 GeneticVariation disease BEFREE An Ala 134 to Asp (GCT to GAT) transition was found in one Turkish and two Norwegian patients with chronic tyrosinemia. 8005583 1994