DisGeNET - a database of gene-disease associations

Familial primary pulmonary hypertension, C0340543

Variant: rs137852741 ×

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:

rs137852741

rs137852741

BMPR2

0.010

GeneticVariation

BEFREE

Lipid content was assessed in rodent and human HPAH RVs and in Rosa26(R899X) mice after metformin administration.

2014