CP, ceruloplasmin, 1356

N. diseases: 283; N. variants: 64
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13072552
rs13072552
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0474679
Disease:
Serum ceruloplasmin measurement 		T 0.800 GeneticVariation GWASCAT Clinical and genetic association of serum ceruloplasmin with cardiovascular risk. 22075249 2012
dbSNP: rs13072552
rs13072552
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0474679
Disease:
Serum ceruloplasmin measurement 		T 0.800 GeneticVariation GWASDB Clinical and genetic association of serum ceruloplasmin with cardiovascular risk. 22075249 2012
dbSNP: rs386134124
rs386134124
Entrez Id: 1356
Gene Symbol: CP
CP
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
dbSNP: rs386134124
rs386134124
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		C 0.710 CausalMutation CLINVAR
dbSNP: rs16861634
rs16861634
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17838831
rs17838831
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1879169
rs1879169
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs701748
rs701748
Entrez Id: 1356;101927942
Gene Symbol: CP;LOC101927942
CP;LOC101927942
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7652826
rs7652826
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7652826
rs7652826
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
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: rs1553759338
rs1553759338
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		A 0.700 CausalMutation CLINVAR Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? 26777753 2016
dbSNP: rs1553759167
rs1553759167
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		G 0.700 CausalMutation CLINVAR Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. 25864092 2015
dbSNP: rs750451693
rs750451693
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox. 25089372 2015
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: rs750451693
rs750451693
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability. 18200628 2008
dbSNP: rs386134133
rs386134133
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		T 0.700 CausalMutation CLINVAR Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. 16831606 2006
dbSNP: rs386134147
rs386134147
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		A 0.700 CausalMutation CLINVAR Molecular and pathological basis of aceruloplasminemia. 16629161 2006
dbSNP: rs386134155
rs386134155
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		A 0.700 CausalMutation CLINVAR Molecular and pathological basis of aceruloplasminemia. 16629161 2006
dbSNP: rs750451693
rs750451693
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation 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 Molecular and pathological basis of aceruloplasminemia. 16629161 2006
dbSNP: rs386134125
rs386134125
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		G 0.700 CausalMutation CLINVAR Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 15082597 2004
dbSNP: rs750451693
rs750451693
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Aceruloplasminemia, an iron metabolic disorder. 14719552 2003
dbSNP: rs34394958
rs34394958
Entrez Id: 1356
Gene Symbol: CP
CP
CUI: C0878682
Disease:
Ceruloplasmin deficiency 		C 0.700 CausalMutation CLINVAR A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. 11909923 2002
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