CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Disease: Basal ganglion degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854279
Disease: Basal ganglion degeneration
Basal ganglion degeneration 		0.010 Biomarker disease BEFREE We report here on the identification of a genetic defect in the ceruloplasmin gene in a patient previously noted to have a total absence of circulating serum ceruloplasmin in association with late-onset retinal and basal ganglia degeneration. 7708681 1995