CD320, CD320 molecule, 51293

N. diseases: 20; N. variants: 5
Disease: Methylmalonic aciduria due to transcobalamin receptor defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749905
Disease: Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic aciduria due to transcobalamin receptor defect 		0.300 Biomarker disease GENOMICS_ENGLAND Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 20524213 2010