DisGeNET - a database of gene-disease associations

Pulmonary Hypertension, Primary, 1, C4552070

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1085307215

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs1085307324

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs1085307364

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs1085307365

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852743

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852744

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852745

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852746

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852749

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852750

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs137852752

BMPR2

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

28507310

2017

dbSNP:

rs1085307215

BMPR2

0.800

CausalMutation

CLINVAR

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

26387786

2015

dbSNP:

rs137852743

BMPR2

0.800

CausalMutation

CLINVAR

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

26387786

2015

dbSNP:

rs1085307215

BMPR2

0.800

GeneticVariation

UNIPROT

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

24936649

2014

dbSNP:

rs1085307215

BMPR2

0.800

GeneticVariation

UNIPROT

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

25187962

2014

dbSNP:

rs1085307324

BMPR2

0.800

GeneticVariation

UNIPROT

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

24936649

2014

dbSNP:

rs1085307324

BMPR2

0.800

GeneticVariation

UNIPROT

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

25187962

2014

dbSNP:

rs1085307364

BMPR2

0.800

GeneticVariation

UNIPROT

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

24936649

2014

dbSNP:

rs1085307364

BMPR2

0.800

GeneticVariation

UNIPROT

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

25187962

2014

dbSNP:

rs1085307365

BMPR2

0.800

GeneticVariation

UNIPROT

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

24936649

2014

dbSNP:

rs1085307365

BMPR2

0.800

GeneticVariation

UNIPROT

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

25187962

2014

dbSNP:

rs137852743

BMPR2

0.800

GeneticVariation

UNIPROT

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

24936649

2014

dbSNP:

rs137852743

BMPR2

0.800

GeneticVariation

UNIPROT

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

25187962

2014

dbSNP:

rs137852744

BMPR2

0.800

GeneticVariation

UNIPROT

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

24936649

2014

dbSNP:

rs137852744

BMPR2

0.800

GeneticVariation

UNIPROT

Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations.

25187962

2014