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: C4527152
Disease: Tricuspid Valve Regurgitation Velocity
Tricuspid Valve Regurgitation Velocity 		phenotype Sign or Symptom 9 0.010 None 1.000 1 2017 2017
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2002 2002
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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2014 2014
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		disease Respiratory Tract Diseases Disease or Syndrome 56 45 0.010 None 1.000 1 2016 2016
CUI: C3887658
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 8 3 0.010 None 1.000 1 2016 2016
CUI: C4551903
Disease: Total anomalous pulmonary venous return
Total anomalous pulmonary venous return 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2002 2002
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2017 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2007 2007
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2016 2016
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 8 5 0.010 None 1.000 1 1999 1999
CUI: C0267370
Disease: Angiodysplasia of colon
Angiodysplasia of colon 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C4727069
Disease: Advanced Renal Cell Carcinoma
Advanced Renal Cell Carcinoma 		disease Neoplastic Process 27 0.010 None 1.000 1 2019 2019
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.010 None 1.000 1 2019 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2002 2002
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
Adult Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 62 2 0.010 None 1.000 1 2002 2002
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C4721698
Disease: Metastatic Renal Cell Carcinoma
Metastatic Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 144 9 0.010 None 1.000 1 2016 2016
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer 		disease Neoplastic Process 145 9 0.010 None 1.000 1 2016 2016
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2019 2019
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: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.010 None 1.000 1 2017 2017
CUI: C0346053
Disease: Atypical fibroxanthoma of skin
Atypical fibroxanthoma of skin 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2014 2014