Source: CLINVAR

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: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease 0.700 moderate 1.000 50 304 2000 2018
Entrez Id: 3777
Gene Symbol: KCNK3
KCNK3 		potassium two pore domain channel subfamily K member 3 0.584 0.654 0.90
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease 0.400 None 0 1
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease 0.100 None 1.000 6 11 2008 2015
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C4552070
Disease: Pulmonary Hypertension, Primary, 1
Pulmonary Hypertension, Primary, 1 		disease 0.100 None 1.000 2 3 2013 2015