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: 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: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia 		phenotype Finding 4 0.100 None 0
CUI: C0007772
Disease: Intracranial Arteriovenous Malformation
Intracranial Arteriovenous Malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 11 0.200 None 0
CUI: C4021971
Disease: Peripheral arteriovenous fistula
Peripheral arteriovenous fistula 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 8 0.100 None 0
CUI: C4021977
Disease: Visceral angiomatosis
Visceral angiomatosis 		disease Disease or Syndrome 17 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: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 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: C4025878
Disease: Tongue telangiectasia
Tongue telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C4025853
Disease: Nasal mucosa telangiectasia
Nasal mucosa telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0025222
Disease: Melena
Melena 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 15 1 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: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 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: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		disease Disease or Syndrome 33 0.100 None 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 0
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C0043208
Disease: Wolman Disease
Wolman Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 35 0.010 None 1.000 1 1976 1976