PRDX2, peroxiredoxin 2, 7001

N. diseases: 243; N. variants: 2
Disease: May-Hegglin anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		0.010 GeneticVariation phenotype BEFREE Platelet size on blood smear is compared with platelet size and shape in suspension (i.e., whole blood and citrated platelet-rich plasma [PRP]) for normal donors and 16 patients with hereditary "giant" platelet syndromes (HGPS), including Bernard-Soulier syndrome (BSS) (seven patients), Montreal platelet syndrome (MPS) (three patients), May-Hegglin anomaly (one patient) and Rafael platelet defect (one patient). 4031633 1985