DisGeNET - a database of gene-disease associations

ATP1B1, ATPase Na+/K+ transporting subunit beta 1, 481

N. diseases: 34; N. variants: 12

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:

rs10919071

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs10919071

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.800

GeneticVariation

GWASDB

Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

19305409

2009

dbSNP:

rs10919071

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.800

GeneticVariation

GWASCAT

Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

19305409

2009

dbSNP:

rs10919070

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs11809180

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs12035622

Entrez Id:	481;29922
Gene Symbol:	ATP1B1;NME7

ATP1B1;NME7

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

30679814

2019

dbSNP:

rs12079745

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs12731646

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs145163454

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C1861172
Disease:

Venous Thromboembolism

0.700

GeneticVariation

GWASCAT

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

31420334

2019

dbSNP:

rs1892094

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

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:

rs1138486

Entrez Id:	481;29922
Gene Symbol:	ATP1B1;NME7

ATP1B1;NME7

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

29213071

2017

dbSNP:

rs12035622

Entrez Id:	481;29922
Gene Symbol:	ATP1B1;NME7

ATP1B1;NME7

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

29213071

2017

dbSNP:

rs10919070

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

24952745

2014

dbSNP:

rs11809180

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.

25055868

2014

dbSNP:

rs12079745

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0429028
Disease:

QT interval feature (observable entity)

0.700

GeneticVariation

GWASCAT

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

24952745

2014

dbSNP:

rs75112989

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0042487
Disease:

Venous Thrombosis

0.700

GeneticVariation

GWASDB

Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

22675575

2012

dbSNP:

rs77977611

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0042487
Disease:

Venous Thrombosis

0.700

GeneticVariation

GWASDB

Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

22675575

2012

dbSNP:

rs2982468

Entrez Id:	481
Gene Symbol:	ATP1B1

ATP1B1

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

However, an overall significant association of haplotypes containing rs1200131, rs1200137, rs3766032, rs3766039 and rs2982468 with hypertension was observed (p=0.032).

19563793

2009