DisGeNET - a database of gene-disease associations

Pulmonary Hypertension, Primary, 1, C4552070

Variant: rs1085307174 ×

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:

rs1085307174

BMPR2

0.700

CausalMutation

CLINVAR

Genetics and genomics of pulmonary arterial hypertension.

19555857

2009

dbSNP:

rs1085307174

BMPR2

0.700

CausalMutation

CLINVAR

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

16717148

2006

dbSNP:

rs1085307174

BMPR2

0.700

CausalMutation

CLINVAR

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

16429395

2006