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: 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: 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: C0018926
Disease: Hematemesis
Hematemesis 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 14 1 0.100 None 0
CUI: C0018920
Disease: Hemangioma, Cavernous
Hemangioma, Cavernous 		disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 36 4 0.100 None 0
CUI: C0428871
Disease: Right to left cardiovascular shunt (finding)
Right to left cardiovascular shunt (finding) 		phenotype Finding 3 0.100 None 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis 		phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 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: C0014867
Disease: Esophageal Varices
Esophageal Varices 		disease Digestive System Diseases Disease or Syndrome 56 5 0.100 None 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 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: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.100 None 0
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 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: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia 		phenotype Finding 4 0.100 None 0
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		disease Digestive System Diseases Disease or Syndrome 167 9 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: C1619711
Disease: Gastrointestinal telangiectasia
Gastrointestinal telangiectasia 		disease Disease or Syndrome 2 0.100 None 0
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: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 0
CUI: C0019079
Disease: Hemoptysis
Hemoptysis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.100 None 0