Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0002170
Disease: Alopecia
Alopecia 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1851129
Disease: Progressive cervical vertebral spine fusion
Progressive cervical vertebral spine fusion 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C4023094
Disease: Ectopic ossification in ligament tissue
Ectopic ossification in ligament tissue 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C4023095
Disease: Ectopic ossification in tendon tissue
Ectopic ossification in tendon tissue 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C4023096
Disease: Ectopic ossification in muscle tissue
Ectopic ossification in muscle tissue 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C4024079
Disease: Aplasia/Hypoplasia of the phalanges of the hallux
Aplasia/Hypoplasia of the phalanges of the hallux 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0002871
Disease: Anemia
Anemia 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0018552
Disease: Hamartoma
Hamartoma 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		activin A receptor type 1 0.535 0.731 0.33
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0