Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
0.530 GeneticVariation phenotype LHGDN In patients carrying the LL genotype, which is associated with higher levels of 5-HTT expression in pulmonary artery smooth muscle cells than the LS and SS genotypes, PH was more severe than in LS or SS patients. 14530202 2003
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
0.530 GeneticVariation phenotype LHGDN We have tested the hypothesis that the 5HTT gene does contribute to the pathogenesis of this disease in children by comparing the allelic frequencies of both the long and short variants between children with idiopathic pulmonary hypertension and pulmonary hypertension secondary to underlying pulmonary disease. 16009349 2005
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
0.510 GeneticVariation phenotype LHGDN Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. 14684682 2003
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.370 GeneticVariation phenotype LHGDN These results indicate that a substantial portion of Japanese PPH patients carry BMPR2 mutations with considerable heterogeneity. 15146475 2004
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.370 GeneticVariation phenotype LHGDN Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. 15775752 2005
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.370 GeneticVariation phenotype LHGDN A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension. 18364108 2008
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.370 GeneticVariation phenotype LHGDN Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension. 15055271 2004
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.370 GeneticVariation phenotype LHGDN Primary pulmonary hypertension in children may have a different genetic background than in adults. 15295086 2004
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.370 GeneticVariation phenotype LHGDN BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 15965979 2005
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.320 GeneticVariation phenotype LHGDN Angiotensin-converting enzyme DD genotype in patients with primary pulmonary hypertension: increased frequency and association with preserved haemodynamics. 12692750 2003
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.320 GeneticVariation phenotype LHGDN Several polymorphisms of genes encoding for components of the renin angiotensin system such as the angiotensin converting enzyme (ACE), the angiotensinogen (AGT) gene, and the angiotensin II type 1 receptor (ATIR) have been associated with the development of pulmonary hypertension. 15017542 2004
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
0.220 GeneticVariation phenotype LHGDN NOS2 polymorphisms associated with the susceptibility to pulmonary arterial hypertension with systemic sclerosis: contribution to the transcriptional activity. 16813666 2006
Entrez Id: 3371
Gene Symbol: TNC
TNC
0.210 GeneticVariation phenotype LHGDN Tenascin-C is induced by mutated BMP type II receptors in familial forms of pulmonary arterial hypertension. 16782755 2006
Entrez Id: 183
Gene Symbol: AGT
AGT
0.210 GeneticVariation phenotype LHGDN Several polymorphisms of genes encoding for components of the renin angiotensin system such as the angiotensin converting enzyme (ACE), the angiotensinogen (AGT) gene, and the angiotensin II type 1 receptor (ATIR) have been associated with the development of pulmonary hypertension. 15017542 2004
Entrez Id: 2243
Gene Symbol: FGA
FGA
0.010 GeneticVariation phenotype LHGDN Fibrinogen Aalpha Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension. 18057060 2008
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
0.010 GeneticVariation phenotype LHGDN Association of clinical features with HLA in chronic pulmonary thromboembolism. 15640334 2005
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.530 Biomarker phenotype RGD Rescue treatment with a Rho-kinase inhibitor normalizes right ventricular function and reverses remodeling in juvenile rats with chronic pulmonary hypertension. 20889845 2010
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
0.530 Biomarker phenotype LHGDN N-terminal-pro-B type natriuretic peptide as a useful tool to evaluate pulmonary hypertension and cardiac function in CDH infants. 18160811 2008
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.530 Biomarker phenotype CTD_human Finally, we suggest that these observations may help to explain why patients with pulmonary hypertension experience exacerbations after taking indomethacin and that the newly introduced selective cyclooxygenase-2 inhibitors may increase endothelin-1 production in susceptible patients, leading to vascular remodeling and the development of pulmonary hypertension. 12391278 2002
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
0.530 Biomarker phenotype CTD_human Attenuated vasodilatation in lambs with endogenous and exogenous activation of cGMP signaling: role of protein kinase G nitration. 21351102 2011
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.530 Biomarker phenotype CTD_human To explain the increase in potency it is speculated that during the development of pulmonary hypertension the mechanism whereby ET-1 and NA contract pulmonary arteries may change from one in which Ca2+ influx plays only a minor role to one in which Ca2+ influx predominates, although no direct evidence to support this speculation has yet been obtained. 7549228 1994
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.530 Biomarker phenotype LHGDN Induction of apoptosis and endothelin-1 secretion in primary human lung endothelial cells by HIV-1 gp120 proteins. 15979050 2005
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
0.530 Biomarker phenotype CTD_human Converging evidence in support of the serotonin hypothesis of dexfenfluramine-induced pulmonary hypertension with novel transgenic mice. 18506000 2008
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
0.530 Biomarker phenotype RGD These data show that, in rats, the increased 5-HTT expression that follows dexfenfluramine discontinuation promotes the development of hypoxic pulmonary hypertension. 11259539 2001
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
0.530 Biomarker phenotype CTD_human Gene expression of endothelin-1 and endothelin receptor a on monocrotaline-induced pulmonary hypertension in rats after bosentan treatment. 20967148 2010