DisGeNET - a database of gene-disease associations

Idiopathic pulmonary arterial hypertension, C3203102

Variant: rs137852749 ×

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:

rs137852749

rs137852749

BMPR2

0.010

GeneticVariation

BEFREE

This finding may help to advance our understanding of RP in PAH across families sharing the p.Arg491Gln pathogenic mutation in <i>BMPR2</i>.

2019