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: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus
disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2017 2017
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis
disease Musculoskeletal Diseases Acquired Abnormality 10 1 0.100 None 0
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.030 None 1.000 3 2017 2020
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus
disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.110 None 1.000 1 2017 2017
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: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 17 1 0.010 None 1.000 1 2018 2018
Ectopic ossification in ligament tissue
disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 0.100 None 0
Abnormality of the first metatarsal bone
disease Anatomical Abnormality 1 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.080 None 1.000 8 1 2009 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 4 1 1996 2015
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 406 58 0.030 None 1.000 3 2009 2018
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 71 4 0.010 None 1.000 1 2009 2009
CUI: C0025988
Disease: Microglossia
Microglossia
disease Stomatognathic Diseases Congenital Abnormality 19 2 0.010 None 1.000 1 2020 2020
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: C0344735
Disease: Partial atrioventricular canal
Partial atrioventricular canal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 1 0.010 None 1.000 1 2011 2011
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.010 None 1.000 1 2016 2016
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: C1705254
Disease: Neonatal Deformity
Neonatal Deformity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.010 None 1.000 1 2013 2013
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: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2017 2017
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0
Fibrodysplasia Ossificans Progressiva
disease Musculoskeletal Diseases Disease or Syndrome 58 17 1.000 None 1.000 108 12 2006 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: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2011 2011
CUI: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019