rs386134124, CP

N. diseases: 1
Disease: Ceruloplasmin deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ceruloplasmin deficiency
CUI: C0878682
Disease: Ceruloplasmin deficiency
0.710 GeneticVariation BEFREE To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined. 11689569 2002
Ceruloplasmin deficiency
CUI: C0878682
Disease: Ceruloplasmin deficiency
0.710 CausalMutation CLINVAR