×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
29650961 2018
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2.
25429696 2015
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
26387786 2015
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.
25612240 2015
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension.
23139147 2014
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient.
24591673 2014
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.
23298310 2013
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
23592887 2013
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.
23579436 2013
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.
23675998 2013
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension.
24132125 2013
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.
22632830 2012
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
21737554 2012
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
21801371 2011
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.
20002458 2010
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].
20096498 2010
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian.
20496075 2010
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.
20095988 2010
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.
20534176 2010
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.
19206171 2009
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Genetics and genomics of pulmonary arterial hypertension.
19555857 2009
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.
19223935 2009
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Gene symbol: BMPR2. Disease: Pulmonary hypertension, primary.
18386374 2008
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
18356561 2008
×
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
Pulmonary Hypertension, Primary, 1
0.700
CausalMutation
CLINVAR
A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.
18364108 2008