DisGeNET - a database of gene-disease associations

Pulmonary Hypertension, Primary, 1, C4552070

Variant: rs765887545 ×

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:

rs765887545

BMPR2

0.700

CausalMutation

CLINVAR

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

26387786

2015

dbSNP:

rs765887545

BMPR2

0.700

CausalMutation

CLINVAR

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

21801371

2011

dbSNP:

rs765887545

BMPR2

0.700

CausalMutation

CLINVAR

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

15591269

2004

dbSNP:

rs765887545

BMPR2

0.700

CausalMutation

CLINVAR

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

11115378

2001