QPCT, glutaminyl-peptide cyclotransferase, 25797

N. diseases: 94; N. variants: 6
Disease: Cataract, total congenital with posterior sutural opacities in Heterozygotes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4049005
Disease: Cataract, total congenital with posterior sutural opacities in Heterozygotes
Cataract, total congenital with posterior sutural opacities in Heterozygotes 		0.010 GeneticVariation disease BEFREE A novel missense mutation (codon 351, GCT (Ala) --> CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. 9590153 1998