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: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype Molecular Function 14 0.300 strong 1.000 1 2016 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2014 2014
CUI: C1332182
Disease: Adult Anaplastic Large Cell Lymphoma
Adult Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 128 2 0.060 None 0.833 6 1997 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2002 2002
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72 0.010 None 1.000 1 2017 2017
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.020 None 1.000 2 2009 2011
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: C1332214
Disease: Adult Primary Cutaneous Anaplastic Large Cell Lymphoma
Adult Primary Cutaneous Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 12 0.010 None 1.000 1 2014 2014
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2002 2002
CUI: C4727069
Disease: Advanced Renal Cell Carcinoma
Advanced Renal Cell Carcinoma 		disease Neoplastic Process 27 0.010 None 1.000 1 2019 2019
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2018 2018
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: C0002793
Disease: Anaplasia
Anaplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7 0.010 None 1.000 1 2016 2016
CUI: C1332079
Disease: Anaplastic Large Cell Lymphoma, ALK-Positive
Anaplastic Large Cell Lymphoma, ALK-Positive 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.020 None 0.500 2 2018 2019
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.110 None 1.000 1 2020 2020
CUI: C0085411
Disease: Angiodysplasia
Angiodysplasia 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
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: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy 		disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 109 8 0.010 None 1.000 1 2009 2009
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 278 19 0.010 None 1.000 1 2019 2019
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process 76 14 0.100 None 1.000 23 2000 2018
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: C0917804
Disease: Arteriovenous Malformations, Cerebral
Arteriovenous Malformations, Cerebral 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 35 6 0.130 None 1.000 3 2004 2018
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 22 4 0.020 None 1.000 2 2012 2019
CUI: C0346053
Disease: Atypical fibroxanthoma of skin
Atypical fibroxanthoma of skin 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2014 2014