CD320, CD320 molecule, 51293

N. diseases: 20; N. variants: 5
Disease: Hyperhomocysteinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		0.010 AlteredExpression disease BEFREE A previously healthy 7-week-old boy developed bilateral central retinal artery occlusions in the presence of hyperhomocysteinemia and elevated serum methylmalonic acid and was found to have a transcobalamin receptor mutation. 22819238 2012