Disease: Pulmonary arterial hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 22632830 2012
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE The purpose of this study was to undertake thorough genetic analysis of the bone morphogenetic protein type 2 receptor (BMPR2) gene in patients with pulmonary arterial hypertension. 23579436 2013
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE We studied a family in which multiple members had pulmonary arterial hypertension without identifiable mutations in any of the genes known to be associated with the disease, including BMPR2, ALK1, ENG, SMAD9, and CAV1. 23883380 2013
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension. 24132125 2013
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 23139147 2014
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 AlteredExpression disease BEFREE The novel relationship between BMPR2 dysfunction and reduced expression of endothelial COL4 and EFNA1 may underlie vulnerability to injury in pulmonary arterial hypertension. 26030479 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE 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
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension? 26167679 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Bone morphogenetic protein receptor type II deficiency and increased inflammatory cytokine production. A gateway to pulmonary arterial hypertension. 26073741 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Heterozygous null bone morphogenetic protein receptor type 2 mutations promote SRC kinase-dependent caveolar trafficking defects and endothelial dysfunction in pulmonary arterial hypertension. 25411245 2015
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Methylation Analysis of the BMPR2 Gene Promoter Region in Patients With Pulmonary Arterial Hypertension. 26654628 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. 26795434 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE The aim of this study was to characterize the genetics of a Spanish cohort of patients with idiopathic and hereditary pulmonary arterial hypertension and to describe the phenotype and prognostic factors associated with BMPR2 and the new genes (KCNK3 and TBX4). 27453251 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Selective enhancement of endothelial BMPR2 with BMP9 reverses pulmonary arterial hypertension. 26801773 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE Therefore, we investigated RV function in patients who have pulmonary arterial hypertension with and without the BMPR2 mutation by combining in vivo measurements with molecular and histological analysis of human RV and left ventricular tissue. 26984938 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension. 27811071 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE In this study we assessed if EIF2AK4 mutations occur also in a family with autosomal dominantly inherited pulmonary arterial hypertension (HPAH) and incomplete penetrance of bone morphogenic protein receptor 2 (BMPR2) mutations. 27809840 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 PosttranslationalModification disease BEFREE Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. 28507310 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE TNFα drives pulmonary arterial hypertension by suppressing the BMP type-II receptor and altering NOTCH signalling. 28084316 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE In particular, genetic alterations of BMPR2 gene are associated with several clinical disorders, including representative pulmonary arterial hypertension, cancers, and metabolic diseases, thus demonstrating the physiological importance of BMPR2. 28391780 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE None of the BMPR2 mutation carriers developed pulmonary arterial hypertension within 2 (range 1.3 to 2.8) years. 27475894 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE Modulation of Endothelial Bone Morphogenetic Protein Receptor Type 2 Activity by Vascular Endothelial Growth Factor Receptor 3 in Pulmonary Arterial Hypertension. 28356442 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 Biomarker disease BEFREE BMP type II receptor as a therapeutic target in pulmonary arterial hypertension. 28447104 2017
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.500 GeneticVariation disease BEFREE GCN2 expression was quantified by Western blotting in 24 PVOD patients, 44 patients with pulmonary arterial hypertension (PAH; 23 bone morphogenetic protein receptor type II [BMPR2] mutation carriers, 21 non-carriers), and 3 experimental pulmonary hypertension models. 29108819 2018