QPCT, glutaminyl-peptide cyclotransferase, 25797

N. diseases: 94; N. variants: 6
Disease: Microspherocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025285
Disease: Microspherocytosis
Microspherocytosis 		0.010 Biomarker disease BEFREE Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis. 8547071 1995