Source: ORPHANET

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: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.400 None 1.000 2 0 2005 2018
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3 		potassium two pore domain channel subfamily K member 3 0.584 0.654 0.90
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.320 None 1.000 2 0 2013 2017
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 5 0 2012 2014
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 4 0 2004 2014
Entrez Id: 9496
Gene Symbol: TBX4
TBX4 		T-box transcription factor 4 0.576 0.731 0.50
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 2 0 2013 2013
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9 		SMAD family member 9 0.666 0.308 6.4E-05
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 1 0 2011 2011
Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4 		eukaryotic translation initiation factor 2 alpha kinase 4 0.603 0.577 1.2E-15
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 1 0 2012 2012