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:

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

dbSNP:

rs7136259

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0010068
Disease:

Coronary heart disease

0.800

GeneticVariation

GWASCAT

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

22751097

2012

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.710

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs11105364

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs11105364

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs11105364

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Study Meta-Analysis of Long-Term Average Blood Pressure in East Asians.

28348047

2017

dbSNP:

rs11105364

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs11105364

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

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:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association study of blood pressure and hypertension.

19430479

2009

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1306620
Disease:

Systolic blood pressure measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study of blood pressure and hypertension.

19430479

2009

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:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs2681492

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

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:

rs7297206

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.800

GeneticVariation

GWASCAT

Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

25249183

2015

dbSNP:

rs11105352

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs11105352

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

27841878

2017

dbSNP:

rs11105354

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

30578418

2019

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:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.

25249183

2015