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: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 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: 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: C4024082
Disease: Abnormality of the first metatarsal bone
Abnormality of the first metatarsal bone 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype Finding 28 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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.310 None 1.000 1 2016 2016
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: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.300 limited 1.000 1 2017 2017
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 81 8 0.300 None 1.000 1 2014 2014
CUI: C0750935
Disease: Cerebral Astrocytoma
Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 32 0.300 None 1.000 1 2014 2014
CUI: C0338070
Disease: Childhood Cerebral Astrocytoma
Childhood Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2014 2014
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma 		disease Neoplasms Neoplastic Process 32 0.300 None 1.000 1 2014 2014
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma 		disease Neoplasms Neoplastic Process 45 0.300 None 1.000 1 2014 2014
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.300 None 1.000 1 2014 2014
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 163 14 0.300 None 1.000 1 2014 2014
CUI: C0280783
Disease: Juvenile Pilocytic Astrocytoma
Juvenile Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 38 2 0.300 None 1.000 1 2014 2014
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2013 2013
CUI: C0242488
Disease: Acute Lung Injury
Acute Lung Injury 		disease Respiratory Tract Diseases Injury or Poisoning 93 3 0.300 None 1.000 1 2011 2011
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		disease Neoplasms Neoplastic Process 29 0.300 None 1.000 1 2014 2014
CUI: C0547065
Disease: Mixed oligoastrocytoma
Mixed oligoastrocytoma 		disease Neoplasms Neoplastic Process 30 0.300 None 1.000 1 2014 2014
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.300 None 1.000 1 2013 2013
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2013 2013