Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 GeneticVariation disease BEFREE Pulmonary arterial hypertension is related to mutations in the bone morphogenetic protein receptor type 2, pulmonary vascular dysfunction and is increasingly recognized as a systemic disease. 30632900 2020
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 GeneticVariation disease BEFREE HPAEC made dysfunctional by siRNA-mediated BMPR2 depletion showed downregulation of 18 and upregulation of 19 P2 receptor Ca<sup>2+</sup> signalosome genes including PLCD4, which was found to be upregulated in iPSC-EC from BMPR2-mutant patients with pulmonary arterial hypertension. 31396838 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 Biomarker disease BEFREE BMPR2-expressing bone marrow-derived endothelial-like progenitor cells alleviate pulmonary arterial hypertension in vivo. 30977250 2019
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.500 Biomarker disease BEFREE BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension. 30809644 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.500 Biomarker disease BEFREE Conclusions- EC Cav-1 depletion occurs, in part, via Cav-1+ extracellular vesicle shedding into the circulation, which contributes to increased TGF-β signaling, EC proliferation, vascular remodeling, and pulmonary arterial hypertension. 30943774 2019
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.500 Biomarker disease BEFREE The ALK-1/SMAD/ATOH8 axis attenuates hypoxic responses and protects against the development of pulmonary arterial hypertension. 31719172 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 GeneticVariation disease BEFREE Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension. 31797984 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 GeneticVariation disease BEFREE BMPR2 mutations and endothelial dysfunction in pulmonary arterial hypertension (2017 Grover Conference Series). 29521190 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 Biomarker disease BEFREE Autophagy contributes to BMP type 2 receptor degradation and development of pulmonary arterial hypertension. 31257577 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 Biomarker disease BEFREE Bmpr2 Mutant Rats Develop Pulmonary and Cardiac Characteristics of Pulmonary Arterial Hypertension. 30586714 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
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
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.500 Biomarker disease BEFREE Protection against monocrotaline-induced pulmonary arterial hypertension and caveolin-1 downregulation by fluvastatin in rats. 29286128 2018
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.500 Biomarker disease GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 Biomarker disease BEFREE Consequences of BMPR2 Deficiency in the Pulmonary Vasculature and Beyond: Contributions to Pulmonary Arterial Hypertension. 30149506 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 PosttranslationalModification disease BEFREE Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension. 28507310 2017
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 Biomarker disease BEFREE TNFα drives pulmonary arterial hypertension by suppressing the BMP type-II receptor and altering NOTCH signalling. 28084316 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.500 GeneticVariation disease BEFREE Pulmonary arterial hypertension was induced with monocrotaline (MCT) in 60 adult male Wistar rats prior to delivery of lentiviral vector transduced rBMSCs expressing Cav1, eNOS and/or F92A-Cav1. 27771236 2017
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
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
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.500 AlteredExpression disease BEFREE Up-regulation of caveolin-1 by DJ-1 attenuates rat pulmonary arterial hypertension by inhibiting TGFβ/Smad signaling pathway. 29069575 2017
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
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
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
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
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 Biomarker disease BEFREE BMP type II receptor as a therapeutic target in pulmonary arterial hypertension. 28447104 2017
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 GeneticVariation disease BEFREE Methylation Analysis of the BMPR2 Gene Promoter Region in Patients With Pulmonary Arterial Hypertension. 26654628 2016
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.500 GeneticVariation disease BEFREE BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. 26795434 2016
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.500 GeneticVariation disease BEFREE Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture. 27316748 2016