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: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2 		disease 0.760 definitive 1.000 4 0 1996 2018
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease 0.560 strong 1.000 1 0 2010 2017
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: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease 0.500 strong 0.971 1 0 2001 2020
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0520557
Disease: Arteriovenous malformation of liver
Arteriovenous malformation of liver 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1857690
Disease: Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0155675
Disease: Pulmonary Arteriovenous Fistulas
Pulmonary Arteriovenous Fistulas 		disease 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0014591
Disease: Epistaxis
Epistaxis 		phenotype 0.400 strong 1.000 1 0 2003 2003
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		disease 0.340 strong 1.000 1 0 2002 2008
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.310 strong 1.000 1 0 2006 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		phenotype 0.300 strong 1.000 1 0 2006 2006
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0