DisGeNET - a database of gene-disease associations

ATP2B1, ATPase plasma membrane Ca2+ transporting 1, 490

N. diseases: 57; N. variants: 23

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs11105352

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs111478946

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs12230074

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0001948
Disease:

Alcohol consumption

0.700

GeneticVariation

GWASCAT

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

29912962

2018

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0004238
Disease:

Atrial Fibrillation

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

27790247

2016

dbSNP:

rs11105354

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Blood pressure loci identified with a gene-centric array.

22100073

2011

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

21909110

2011

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

21572416

2011

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

24001895

2013

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Blood pressure loci identified with a gene-centric array.

22100073

2011

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

21909110

2011

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

21909110

2011

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0005823
Disease:

Blood Pressure

0.700

GeneticVariation

GWASDB

Genome-wide association study meta-analysis reveals transethnic replication of mean arterial and pulse pressure loci.

24001895

2013

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

27790247

2016

dbSNP:

rs11105380

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0201925
Disease:

Calcium measurement

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0007222
Disease:

Cardiovascular Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0038454
Disease:

Cerebrovascular accident

0.700

GeneticVariation

GWASCAT

Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.

27790247

2016

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Association analyses based on false discovery rate implicate new loci for coronary artery disease.

28714975

2017

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

26343387

2015

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs57481061

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.700

GeneticVariation

GWASCAT

Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

29212778

2018

dbSNP:

rs12817819

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.010

GeneticVariation

BEFREE

The ATP2B1 rs12817819 A allele is associated with increased risk for RHTN in hypertensive participants with documented CAD or suspected ischemic heart disease.

25385345

2014

dbSNP:

rs12818945

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1956346
Disease:

Coronary Artery Disease

0.010

GeneticVariation

BEFREE

However, SNP rs2301753 on chromosome 6 in RNF39 was associated with reduced likelihood of nonobstructive CAD [odds ratio (OR) 0.42 and 95% confidence interval (CI) of 0.29 to 0.68], at a nominal level of P = 5.6 × 10(-6), while SNP rs12818945 in the ATP2B1 locus on chromosome 12 was associated with increased odds for nonobstructive CAD (OR 2.38 and 95% CI of 1.63 to 3.45) and nominal P = 5.8 × 10(-6).

26534935

2016

dbSNP:

rs7136259

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0010068
Disease:

Coronary heart disease

0.800

GeneticVariation

GWASDB

Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.

22751097

2012