Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital dyserythropoietic anemia, type I
0.500 GermlineCausalMutation disease ORPHANET Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. 23716552 2013
Congenital dyserythropoietic anemia, type I
0.500 Biomarker disease CTD_human