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: C1332951
Disease: Childhood Brain Stem Neoplasm
Childhood Brain Stem Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 1 0.010 None 1.000 1 2014 2014
CUI: C1851129
Disease: Progressive cervical vertebral spine fusion
Progressive cervical vertebral spine fusion 		phenotype Finding 1 0.100 None 0
CUI: C4023094
Disease: Ectopic ossification in ligament tissue
Ectopic ossification in ligament tissue 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 0.100 None 0
CUI: C4023095
Disease: Ectopic ossification in tendon tissue
Ectopic ossification in tendon tissue 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 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: C4024082
Disease: Abnormality of the first metatarsal bone
Abnormality of the first metatarsal bone 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4023096
Disease: Ectopic ossification in muscle tissue
Ectopic ossification in muscle tissue 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 2 0.100 None 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		phenotype Finding 3 0.100 None 0
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
CUI: C1337014
Disease: Grade I Chondrosarcoma
Grade I Chondrosarcoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2012 2012
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
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: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease Musculoskeletal Diseases Acquired Abnormality 10 1 0.100 None 0
CUI: C0027122
Disease: Myositis Ossificans
Myositis Ossificans 		disease Musculoskeletal Diseases Disease or Syndrome 12 0.310 None 1.000 1 2007 2007
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus 		disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2017 2017
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: 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
CUI: C0233705
Disease: Cancerophobia
Cancerophobia 		disease Mental Disorders Mental or Behavioral Dysfunction 17 0.010 None 1.000 1 2017 2017
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
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease Neoplasms Disease or Syndrome 18 10 0.010 None 1.000 1 1 2015 2015
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 1 0.100 None 0
CUI: C0025988
Disease: Microglossia
Microglossia 		disease Stomatognathic Diseases Congenital Abnormality 19 2 0.010 None 1.000 1 2020 2020
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.010 None 1.000 1 1 2015 2015
CUI: C2827362
Disease: Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement
Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement 		disease Neoplastic Process 22 0.020 None 1.000 2 2001 2002
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