DisGeNET - a database of gene-disease associations

Pulmonary Hypertension, Primary, 1, C4552070

Variant: rs1085307184 ×

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:

rs1085307184

BMPR2

0.700

CausalMutation

CLINVAR

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

21801371

2011

dbSNP:

rs1085307184

BMPR2

0.700

CausalMutation

CLINVAR

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

16429395

2006

dbSNP:

rs1085307184

BMPR2

0.700

CausalMutation

CLINVAR

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.

12821254

2003