Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.400 GermlineCausalMutation ORPHANET The genetics of pulmonary arterial hypertension. 24951767

2014
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.400 GermlineCausalMutation ORPHANET Genetics and genomics of pulmonary arterial hypertension. 19555857

2009
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.320 GermlineCausalMutation ORPHANET The genetics of pulmonary arterial hypertension. 24951767

2014
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.320 GermlineCausalMutation ORPHANET Five additional heterozygous missense variants in KCNK3 were independently identified in 92 unrelated patients with familial pulmonary arterial hypertension and 230 patients with idiopathic pulmonary arterial hypertension. 23883380

2013
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation ORPHANET A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies. 25512148

2015
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Key role of the endothelial TGF-β/ALK1/endoglin signaling pathway in humans and rodents pulmonary hypertension. 24956016

2014
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET The genetics of pulmonary arterial hypertension. 24951767

2014
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension. 24936649

2014
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET The genetics of pulmonary arterial hypertension. 24951767

2014
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310

2013
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation ORPHANET TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 23592887

2013
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310

2013
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation ORPHANET Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 23502781

2013
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 22632830

2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation ORPHANET Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 22474227

2012
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GermlineCausalMutation ORPHANET Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 21920918

2011
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. 15687131

2005
Entrez Id: 2022
Gene Symbol: ENG
ENG
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation ORPHANET Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. 15115879

2004