ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		disease Disease or Syndrome 17 0.100 None 0
CUI: C4025853
Disease: Nasal mucosa telangiectasia
Nasal mucosa telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4025878
Disease: Tongue telangiectasia
Tongue telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 59 442 0.300 limited 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.170 None 1.000 7 2001 2019
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		disease Cardiovascular Diseases Finding 43 0.340 strong 1.000 4 2002 2008
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.030 None 1.000 3 2017 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.130 None 1.000 3 2017 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.030 None 1.000 3 1997 2013
CUI: C0221045
Disease: High output heart failure
High output heart failure 		disease Cardiovascular Diseases Disease or Syndrome 5 0.020 None 1.000 2 2017 2019
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.010 None 1.000 1 2019 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2003 2003
CUI: C0085411
Disease: Angiodysplasia
Angiodysplasia 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2 2019 2019
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 1.000 4 2002 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 2014 2014
CUI: C1961121
Disease: Congenital vascular anomaly
Congenital vascular anomaly 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 42 1 0.010 None 1.000 1 2018 2018
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.100 None 0.977 43 2000 2020
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.040 None 1.000 4 2006 2019
CUI: C0520557
Disease: Arteriovenous malformation of liver
Arteriovenous malformation of liver 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.400 strong 1.000 1 2003 2003
CUI: C1857690
Disease: Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 4 1 0.400 strong 1.000 1 2003 2003