Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79572
Gene Symbol: ATP13A3
ATP13A3 		0.300 Biomarker phenotype GENOMICS_ENGLAND Genetics and genomics of pulmonary arterial hypertension. 30545973 2019
Entrez Id: 64321
Gene Symbol: SOX17
SOX17 		0.300 Biomarker phenotype GENOMICS_ENGLAND SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. 30044643 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 358
Gene Symbol: AQP1
AQP1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 4086
Gene Symbol: SMAD1
SMAD1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4 		0.300 Biomarker phenotype 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: 3777
Gene Symbol: KCNK3
KCNK3 		0.300 Biomarker phenotype 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 		0.300 Biomarker phenotype GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.300 Biomarker phenotype GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016
Entrez Id: 2658
Gene Symbol: GDF2
GDF2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report. 26801773 2016
Entrez Id: 9496
Gene Symbol: TBX4
TBX4 		0.300 Biomarker phenotype GENOMICS_ENGLAND Towards a molecular classification of pulmonary arterial hypertension. 27694411 2016
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		0.300 Biomarker phenotype GENOMICS_ENGLAND Genetic counselling in a national referral centre for pulmonary hypertension. 26699722 2016
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9 		0.300 Biomarker phenotype GENOMICS_ENGLAND Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015