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: C1838163
Disease: OSLER-RENDU-WEBER SYNDROME 2
OSLER-RENDU-WEBER SYNDROME 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 6 91 0.760 definitive 1.000 74 91 1996 2018
Hereditary hemorrhagic telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 42 81 0.600 None 1.000 73 1996 2019
Familial primary pulmonary hypertension
disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.560 strong 1.000 10 2010 2017
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension
phenotype Respiratory Tract Diseases Pathologic Function 156 0.510 None 1.000 3 2003 2016
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.500 strong 0.971 34 1 2001 2020
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.500 strong 0.909 11 2 2002 2019
Telangiectasia, Hereditary Hemorrhagic, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 8 32 0.420 None 1.000 15 4 2004 2014
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 2 32 0.400 definitive 1.000 24 27 1996 2015
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
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: C0155675
Disease: Pulmonary Arteriovenous Fistulas
Pulmonary Arteriovenous Fistulas
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 5 0.400 strong 1.000 1 2003 2003
Congenital pulmonary arteriovenous malformation
disease Respiratory Tract Diseases Congenital Abnormality 4 0.400 strong 1.000 1 2003 2003
CUI: C0014591
Disease: Epistaxis
Epistaxis
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.400 strong 1.000 1 1 2003 2003
CUI: C0039446
Disease: Telangiectasis
Telangiectasis
disease Cardiovascular Diseases Finding 43 0.340 strong 1.000 4 2002 2008
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.310 strong 1.000 2 2006 2006
Familial pulmonary arterial hypertension
disease Disease or Syndrome 12 1 0.300 None 1.000 5 2012 2014
CUI: C3852953
Disease: Pulmonary Arterial Remodeling
Pulmonary Arterial Remodeling
phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 3 0.300 None 1.000 1 2016 2016
CUI: C3850148
Disease: Vascular Remodeling
Vascular Remodeling
phenotype Pathological Conditions, Signs and Symptoms Organ or Tissue Function 3 0.300 None 1.000 1 2016 2016
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.300 None 1.000 1 2005 2005
2-oxo-hept-3-ene-1,7-dioate hydratase activity
phenotype Molecular Function 14 0.300 strong 1.000 1 2016 2016
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.300 strong 1.000 1 2006 2006
Familial thoracic aortic aneurysm and aortic dissection
disease Disease or Syndrome 59 442 0.300 limited 0
Intracranial Arteriovenous Malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 11 0.200 None 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: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.130 None 1.000 3 2017 2018