ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 CausalMutation disease CLINVAR
CUI: C0016037
Disease: Fibrodysplasia Ossificans Progressiva
Fibrodysplasia Ossificans Progressiva 		1.000 Biomarker disease CTD_human
CUI: C0017638
Disease: Glioma
Glioma 		0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0027122
Disease: Myositis Ossificans
Myositis Ossificans 		0.310 Biomarker disease CTD_human
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		0.100 Biomarker phenotype HPO
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		0.100 Biomarker disease HPO
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		0.100 Biomarker phenotype HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		0.100 Biomarker phenotype HPO