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:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0018801
Disease:

Heart failure

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0006826
Disease:

Malignant Neoplasms

0.700

GeneticVariation

GWASCAT

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

27790247

2016

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:

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:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASCAT

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

27790247

2016

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:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0010068
Disease:

Coronary heart disease

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0337438
Disease:

Glucose measurement

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0011847
Disease:

Diabetes

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0011849
Disease:

Diabetes Mellitus

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0018935
Disease:

Hematocrit procedure

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0495706
Disease:

elevated blood glucose level

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs12579302

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

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

27790247

2016

dbSNP:

rs1401982

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

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

29403010

2018

dbSNP:

rs1401982

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

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

29403010

2018

dbSNP:

rs1401982

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

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

29403010

2018

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

29455858

2018

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1306620
Disease:

Systolic blood pressure measurement

0.700

GeneticVariation

GWASDB

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

21909115

2011

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

29455858

2018

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:	C0010068
Disease:

Coronary heart disease

0.700

GeneticVariation

GWASDB

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

21347282

2011