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: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia
disease Cardiovascular Diseases Disease or Syndrome 20 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: C1861248
Disease: Fingerpad telangiectases
Fingerpad telangiectases
phenotype Finding 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: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.100 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
Right to left cardiovascular shunt (finding)
phenotype Finding 3 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
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: C0018932
Disease: Hematochezia
Hematochezia
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.100 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: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin
phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0
CUI: C4025853
Disease: Nasal mucosa telangiectasia
Nasal mucosa telangiectasia
disease Anatomical Abnormality 2 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 33 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: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.100 None 0
Iron-Refractory Iron Deficiency Anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.100 None 0
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia
phenotype Finding 4 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