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: C0013421
Disease: Dystonia
Dystonia
0.310 GeneticVariation phenotype LHGDN In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G > C or W283S) in exon 5 in the ceruloplasmin gene. 17013908 2006
CUI: C0013421
Disease: Dystonia
Dystonia
0.310 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia
0.310 Biomarker phenotype GENOMICS_ENGLAND Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. 3574673 1987