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: C1832529
Disease: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
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
CUI: C0398635
Disease: Thromboxane synthetase deficiency
Thromboxane synthetase deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 1981 1981
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: C0348023
Disease: Spinal arteriovenous malformation
Spinal arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.100 None 0
CUI: C1619711
Disease: Gastrointestinal telangiectasia
Gastrointestinal telangiectasia 		disease Disease or Syndrome 2 0.100 None 0
CUI: C1838167
Disease: Nail bed telangiectasia
Nail bed telangiectasia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 2 0.100 None 0
CUI: C1857699
Disease: Palate telangiectasia
Palate telangiectasia 		phenotype Finding 2 1 0.100 None 0
CUI: C1861248
Disease: Fingerpad telangiectases
Fingerpad telangiectases 		phenotype Finding 2 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: C1562503
Disease: Vein of Galen Malformations
Vein of Galen Malformations 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2018 2018
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: 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: C0428871
Disease: Right to left cardiovascular shunt (finding)
Right to left cardiovascular shunt (finding) 		phenotype Finding 3 0.100 None 0
CUI: C0744321
Disease: Gastrointestinal arteriovenous malformation
Gastrointestinal arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		disease Respiratory Tract Diseases Congenital Abnormality 4 0.400 strong 1.000 1 2003 2003
CUI: C0340542
Disease: Sporadic primary pulmonary hypertension
Sporadic primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2001 2001
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
CUI: C4748670
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 		disease Disease or Syndrome 4 15 0.010 None 1.000 1 2019 2019
CUI: C0854242
Disease: Gastrointestinal angiodysplasia
Gastrointestinal angiodysplasia 		disease Disease or Syndrome 4 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia 		phenotype Finding 4 0.100 None 0
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: 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
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
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