Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2 		bone morphogenetic protein receptor type 2 0.538 0.654 1.00
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.500 None 0.927 1 0 2002 2020
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.500 strong 0.909 1 0 2002 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.500 moderate 0.909 1 0 2012 2019
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3 		potassium two pore domain channel subfamily K member 3 0.584 0.654 0.90
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.460 strong 0.857 1 0 2016 2019
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4 		eukaryotic translation initiation factor 2 alpha kinase 4 0.603 0.577 1.2E-15
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.440 strong 1.000 1 0 2015 2019
Entrez Id: 9496
Gene Symbol: TBX4
TBX4 		T-box transcription factor 4 0.576 0.731 0.50
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.420 strong 1.000 1 0 2013 2016
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9 		SMAD family member 9 0.666 0.308 6.4E-05
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.420 None 0.667 1 0 2013 2015
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		SMAD family member 4 0.401 0.808 1.00
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.400 None 1.000 1 0 2018 2018
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1 		endothelial PAS domain protein 1 0.454 0.731 0.60
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.320 strong 1.000 1 0 2008 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease 0.300 strong 1.000 1 0 2011 2011