CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
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: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
disease Neoplasms Neoplastic Process 20 0.100 None 0.933 15 2013 2020
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
disease Neoplasms Neoplastic Process 517 25 0.100 None 0.923 13 2014 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 11 2010 2019
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease Neoplasms Neoplastic Process 282 21 0.100 None 1.000 11 2011 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 4 1 2010 2017
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.090 None 1.000 9 2010 2019
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.070 None 1.000 7 2011 2017
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.070 None 1.000 7 2011 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.050 None 1.000 5 2006 2019
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue
group Neoplasms Neoplastic Process 258 6 0.040 None 1.000 4 2012 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.040 None 1.000 4 2012 2017
Undifferentiated (Embryonal) Sarcoma
disease Neoplastic Process 35 4 0.040 None 0.750 4 2013 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.030 None 1.000 3 2016 2018
CUI: C3899764
Disease: CIC-DUX Sarcoma
CIC-DUX Sarcoma
disease Neoplasms Neoplastic Process 8 0.030 None 1.000 3 2017 2018
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.030 None 1.000 3 2016 2018
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma
disease Neoplastic Process 9 0.030 None 1.000 3 2014 2019
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
Generalized Myotonia of Thomsen
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 61 0.030 None 1.000 3 1995 2006
CUI: C0027127
Disease: Myotonia Congenita
Myotonia Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 38 0.030 None 1.000 3 1995 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.030 None 1.000 3 2016 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.030 None 1.000 3 2012 2019