CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Disease: Ceruloplasmin deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776936158
rs776936158
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		T 0.700 CausalMutation CLINVAR New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. 28012953 2017
dbSNP: rs776936158
rs776936158
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		T 0.700 CausalMutation CLINVAR Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 19095659 2009
dbSNP: rs776936158
rs776936158
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		T 0.700 CausalMutation CLINVAR Molecular and pathological basis of aceruloplasminemia. 16629161 2006
dbSNP: rs776936158
rs776936158
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		T 0.700 CausalMutation CLINVAR Consistent with these findings a missense mutation (G631R), resulting in aceruloplasminemia and predicted to alter the interactions at a single type I copper-binding site, results in the synthesis and secretion only of apoceruloplasmin. 12351628 2002
dbSNP: rs776936158
rs776936158
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		T 0.700 GeneticVariation CLINVAR