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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
disease Mental or Behavioral Dysfunction 1 5 0.600 strong 1.000 3 5 2010 2017
CUI: C0152002
Disease: Renal vasculitis
Renal vasculitis
disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.010 None 1.000 1 1989 1989
CUI: C0558920
Disease: Lump on thigh
Lump on thigh
phenotype Sign or Symptom 6 0.010 None 1.000 1 2018 2018
CUI: C3899764
Disease: CIC-DUX Sarcoma
CIC-DUX Sarcoma
disease Neoplasms Neoplastic Process 8 0.030 None 1.000 3 2017 2018
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: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma
disease Neoplastic Process 9 0.030 None 1.000 3 2014 2019
CUI: C0346251
Disease: Sarcoma of kidney
Sarcoma of kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 9 0.010 None 1.000 1 2017 2017
CUI: C4048700
Disease: Sclerosing rhabdomyosarcoma
Sclerosing rhabdomyosarcoma
disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C4727985
Disease: Ewing-like sarcoma
Ewing-like sarcoma
disease Neoplastic Process 10 0.020 None 1.000 2 2014 2015
CUI: C3669048
Disease: Round cell tumor
Round cell tumor
disease Neoplastic Process 12 0.020 None 1.000 2 2014 2017
CUI: C0279622
Disease: Small cell osteosarcoma
Small cell osteosarcoma
disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 2018 2018
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
Primary immunoglobulin A nephropathy (disorder)
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 1989 1989
CUI: C0553581
Disease: Round cell sarcoma
Round cell sarcoma
disease Neoplasms Neoplastic Process 20 0.100 None 0.933 15 2013 2020
CUI: C1321905
Disease: Minimal Brain Dysfunction
Minimal Brain Dysfunction
disease Mental Disorders Mental or Behavioral Dysfunction 22 0.300 None 1.000 1 2017 2017
CUI: C3899649
Disease: Childhood Oligoastrocytoma
Childhood Oligoastrocytoma
disease Neoplasms Neoplastic Process 23 3 0.010 None 1.000 1 2013 2013
Childhood Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2019 2019
Adult Epithelioid Hemangioendothelioma
disease Neoplasms Neoplastic Process 26 0.010 None 1.000 1 2019 2019
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma
disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 2013 2013
Epithelioid hemangioendothelioma, malignant
disease Neoplasms Neoplastic Process 29 0.010 None 1.000 1 2019 2019
CUI: C0206727
Disease: Nerve Sheath Tumors
Nerve Sheath Tumors
group Neoplasms; Nervous System Diseases Neoplastic Process 31 0.010 None 1.000 1 2018 2018
Adult Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 32 0.020 None 1.000 2 2014 2018
Childhood Desmoplastic Small Round Cell Tumor
disease Neoplasms Neoplastic Process 32 0.020 None 1.000 2 2014 2018
CUI: C0279545
Disease: Adult Epithelioid Sarcoma
Adult Epithelioid Sarcoma
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2013 2013
CUI: C0279989
Disease: Childhood Epithelioid Sarcoma
Childhood Epithelioid Sarcoma
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2013 2013