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: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.110 None 1.000 1 2017 2017
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 1 2020 2020
CUI: C0027122
Disease: Myositis Ossificans
Myositis Ossificans 		disease Musculoskeletal Diseases Disease or Syndrome 12 0.310 None 1.000 1 2007 2007
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2020 2020
CUI: C0158458
Disease: Acquired hallux valgus
Acquired hallux valgus 		disease Musculoskeletal Diseases Acquired Abnormality 14 0.010 None 1.000 1 2017 2017
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 158 23 0.010 None 1.000 1 2019 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease Musculoskeletal Diseases Acquired Abnormality 10 1 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.090 None 1.000 9 1996 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.060 None 1.000 6 1 2011 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 1 2012 2019
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.500 None 1.000 3 2014 2014
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 3 2014 2014
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.310 None 1.000 3 2014 2014
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.320 None 1.000 2 2014 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2011 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2011 2011
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.310 None 1.000 1 2016 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 2000 2000
CUI: C0036631
Disease: Seminoma
Seminoma 		disease Neoplasms Neoplastic Process 311 12 0.010 None 1.000 1 2008 2008
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 44 2 0.300 None 1.000 1 2014 2014
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.010 None 1.000 1 1 2015 2015
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		disease Neoplasms Neoplastic Process 117 6 0.010 None 1.000 1 1996 1996
CUI: C0280783
Disease: Juvenile Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 38 2 0.300 None 1.000 1 2014 2014
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 81 8 0.300 None 1.000 1 2014 2014