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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.010 None 1.000 1 2016 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2019 2019
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		disease Neoplasms Neoplastic Process 81 8 0.300 None 1.000 1 2014 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2018 2018
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2018 2018
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: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.300 None 1.000 1 2014 2014
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		disease Neoplasms Neoplastic Process 29 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: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma 		disease Neoplasms Neoplastic Process 32 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: C0338070
Disease: Childhood Cerebral Astrocytoma
Childhood Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2014 2014
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: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 29 45 0.100 None 1.000 1 3 2016 2016
CUI: C0750935
Disease: Cerebral Astrocytoma
Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 32 0.300 None 1.000 1 2014 2014
CUI: C0750936
Disease: Intracranial Astrocytoma
Intracranial Astrocytoma 		disease Neoplasms Neoplastic Process 26 0.300 None 1.000 1 2014 2014
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
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.010 None 1.000 1 2011 2011
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: C4048328
Disease: cervical cancer
cervical cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.010 None 1.000 1 2018 2018
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2014 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.010 None 1.000 1 2017 2017
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2011 2011
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2000 2000
CUI: C4552766
Disease: Miscarriage
Miscarriage 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.010 None 1.000 1 1 2010 2010