ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.010 None 1.000 1 2016 2016
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 203 49 0.010 None 1.000 1 2017 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2020 2020
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 764 20 0.010 None 1.000 1 1996 1996
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 2000 2000
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2009 2009
CUI: C0036631
Disease: Seminoma
Seminoma
disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2008 2008
Iron-Refractory Iron Deficiency Anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.300 limited 1.000 1 2017 2017
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.010 None 1.000 1 2003 2003
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus
disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2017 2017
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma
disease Neoplasms Neoplastic Process 44 2 0.300 None 1.000 1 2014 2014
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis
disease Neoplasms Neoplastic Process 19 7 0.010 None 1.000 1 1 2015 2015
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
disease Neoplasms Neoplastic Process 117 6 0.010 None 1.000 1 1996 1996
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm
disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1 0.010 None 1.000 1 2018 2018
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.010 None 1.000 1 2011 2011
CUI: C0233705
Disease: Cancerophobia
Cancerophobia
disease Mental Disorders Mental or Behavioral Dysfunction 17 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 2019 2019
CUI: C0242488
Disease: Acute Lung Injury
Acute Lung Injury
disease Respiratory Tract Diseases Injury or Poisoning 93 3 0.300 None 1.000 1 2011 2011
CUI: C0265656
Disease: Congenital hallux valgus
Congenital hallux valgus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 14 0.010 None 1.000 1 2017 2017
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.100 None 1.000 1 2 2016 2016
CUI: C0280783
Disease: Juvenile Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma
disease Neoplasms Neoplastic Process 38 2 0.300 None 1.000 1 2014 2014
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma
disease Neoplasms Neoplastic Process 81 8 0.300 None 1.000 1 2014 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2018 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 5 0.010 None 1.000 1 1 2018 2018