CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019114
Disease: Hemosiderosis
Hemosiderosis
0.020 GeneticVariation disease BEFREE A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. 9559983 1998
CUI: C0019114
Disease: Hemosiderosis
Hemosiderosis
0.020 GeneticVariation disease BEFREE We conclude that the mutation in the Cp gene is associated with systemic hemosiderosis in humans. 7539672 1995