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: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype Finding 28 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.010 None < 0.001 1 2017 2017
CUI: C4024082
Disease: Abnormality of the first metatarsal bone
Abnormality of the first metatarsal bone 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus 		disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2017 2017
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: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		disease Neoplasms Neoplastic Process 117 6 0.010 None 1.000 1 1996 1996
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2000 2000
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.300 None 1.000 1 2014 2014
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 0.010 None 1.000 1 2018 2018
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C4024079
Disease: Aplasia/Hypoplasia of the phalanges of the hallux
Aplasia/Hypoplasia of the phalanges of the hallux 		phenotype Finding 1 0.100 None 0
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 1 2020 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2008 2008
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.320 None 1.000 2 2014 2014
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.010 None 1.000 1 2011 2011
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 58 19 0.010 None 1.000 1 2009 2009
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		disease Neoplasms Neoplastic Process 70 2 0.010 None 1.000 1 2014 2014
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 29 45 0.100 None 1.000 1 3 2016 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.330 None 0.750 4 2007 2018
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
CUI: C0233705
Disease: Cancerophobia
Cancerophobia 		disease Mental Disorders Mental or Behavioral Dysfunction 17 0.010 None 1.000 1 2017 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2011 2011
CUI: C0750935
Disease: Cerebral Astrocytoma
Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 32 0.300 None 1.000 1 2014 2014