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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 Biomarker group BEFREE Ceruloplasmin (Cp) contains 95% of the copper found in human serum, and inherited loss of this protein results in diabetes, retinal degeneration and neurodegeneration. 12730458 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 GeneticVariation group BEFREE We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. 7539672 1995
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 GeneticVariation group BEFREE Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. 17013908 2006
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 Biomarker group BEFREE Ceruloplasmin, a multi-copper oxidase, is mainly involved in iron metabolism and its genetic defect, aceruloplasminemia (ACP), shows neurological disorders and diabetes associated with excessive iron accumulation, but little is known about the state of copper in the brain. 27272717 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 GeneticVariation group BEFREE Identification of this kindred extends the spectrum of ceruloplasmin gene mutations resulting in this autosomal recessive, late-onset neurodegenerative disease and highlights the importance of recognizing aceruloplasminemia as a genetic cause of diabetes and neurologic disease. 8789443 1996
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 GeneticVariation group BEFREE A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus. 8526944 1995
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 GeneticVariation group CLINVAR
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 Biomarker group CTD_human Aceruloplasminemia, an inherited disorder of iron metabolism. 12572680 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 GeneticVariation group LHGDN Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus. 17013908 2006
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.460 Biomarker group HPO