Disease: Congenital dyserythropoietic anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital dyserythropoietic anemia
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
0.010 GeneticVariation BEFREE To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia. 11071669 2000