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: C0598935
Disease: Tumor Initiation
Tumor Initiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 1 2019 2019
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: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease Neoplasms Neoplastic Process 19 7 0.010 None 1.000 1 1 2015 2015
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: 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: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2001 2001
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: 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: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis 		disease Neoplasms Disease or Syndrome 18 10 0.010 None 1.000 1 1 2015 2015
CUI: C0547065
Disease: Mixed oligoastrocytoma
Mixed oligoastrocytoma 		disease Neoplasms Neoplastic Process 30 0.300 None 1.000 1 2014 2014
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: C0338070
Disease: Childhood Cerebral Astrocytoma
Childhood Cerebral Astrocytoma 		disease Neoplasms Neoplastic Process 28 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: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.010 None 1.000 1 2011 2011
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 2017 2017
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1674 99 0.010 None < 0.001 1 2018 2018
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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.010 None < 0.001 1 2017 2017
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