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:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.860

GeneticVariation

GWASCAT

Genome-wide association study of blood pressure and hypertension.

19430479

2009

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.860

GeneticVariation

GWASDB

Genome-wide association study of blood pressure and hypertension.

19430479

2009

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASDB

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

19396169

2009

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

For systolic blood pressure, the most compelling association involved chromosome 12q21 and variants near the ATP2B1 gene (rs17249754, P = 1.3 x 10(-7)).

19396169

2009

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genome-wide association study of blood pressure and hypertension.

19430479

2009

dbSNP:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C1305849
Disease:

Diastolic 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:	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:	C1306620
Disease:

Systolic blood pressure measurement

0.700

GeneticVariation

GWASDB

Genome-wide association study of blood pressure and hypertension.

19430479

2009

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.800

GeneticVariation

BEFREE

An additional hypertension case-control study confirmed that rs17249754 (in ATP2B1) increases hypertension risk in both the KARE and Health2 (meta-analysis, P-value=4.25 x 10(-9)) cohorts.

19960030

2010

dbSNP:

rs11105378

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.020

GeneticVariation

BEFREE

Association of rs11105378 with hypertension was cross-validated by replication analysis with the Global Blood Pressure Genetics consortium data set (odds ratio: 1.13 [95% CI: 1.05 to 1.21]; P=5.9×10(-4)).

20921432

2010

dbSNP:

rs2070759

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.020

GeneticVariation

BEFREE

Association analysis revealed significant association of the ATP2B1 rs2070759 polymorphism with hypertension (P=5.3×10(-5); allelic odds ratio: 1.17 [95% CI: 1.09 to 1.26]).

20921432

2010

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:	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:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

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:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

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:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

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:

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

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:	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

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:

rs2681472

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.860

GeneticVariation

BEFREE

The results suggested that rs2681472 was significantly associated with hypertension risk in East Asians (OR = 1.18, 95% CI 1.10-1.27, p = 0.000).

22229515

2012

dbSNP:

rs17249754

Entrez Id:	490
Gene Symbol:	ATP2B1

ATP2B1

CUI:	C0020538
Disease:

Hypertensive disease

0.800

GeneticVariation

BEFREE

All studies evaluating the association between rs2681472 (rs17249754 or rs11105378) and hypertension risk in East Asians were included.

22229515

2012