Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 857
Gene Symbol: CAV1
CAV1
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.700 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.700 Biomarker GENOMICS_ENGLAND A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. 28388887

2017
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.700 Biomarker GENOMICS_ENGLAND A screening programme is now offered to asymptomatic mutation carriers to detect PAH in an early phase and to identify predictors of outcomes in asymptomatic BMPR2 mutation carriers. 26699722

2016
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.660 Biomarker GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786

2015
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.500 Biomarker GENOMICS_ENGLAND The association of pulmonary arterial hypertension and HHT identifies an important disease complication and appears most common among subjects with defects in ALK-1 receptor signalling. 14684682

2003
Entrez Id: 9496
Gene Symbol: TBX4
TBX4
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.460 Biomarker GENOMICS_ENGLAND Towards a molecular classification of pulmonary arterial hypertension. 27694411

2016
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.440 Biomarker GENOMICS_ENGLAND "Response by Hadinnapola et al to Letter Regarding Article, ""Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension""." 29844075

2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.420 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018
Entrez Id: 3741
Gene Symbol: KCNA5
KCNA5
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.360 Biomarker GENOMICS_ENGLAND Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension? 26167679

2015
Entrez Id: 4086
Gene Symbol: SMAD1
SMAD1
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.350 Biomarker GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961

2018
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.320 Biomarker GENOMICS_ENGLAND Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension. 22374147

2012
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.320 Biomarker GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852

2008
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.300 Biomarker GENOMICS_ENGLAND Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension. 21454469

2011