MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 23; N. variants: 50
Source: CURATED ×
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: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		disease Disease or Syndrome 1 15 0.600 None 1.000 2 15 2009 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 68 6 0.500 None 1.000 1 2008 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 85 75 0.410 None 1.000 1 2 2010 2019
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		phenotype Mental Disorders Mental or Behavioral Dysfunction 3 25 0.400 None 1.000 1 2010 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.370 None 1.000 2 2010 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 447 6 0.370 None 1.000 1 2010 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.340 None 1.000 1 2013 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.320 None 1.000 1 2009 2019
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 2 2010 2018
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 2 2010 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 2 2010 2018
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2010 2010
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 67 0.300 None 1.000 1 2008 2008
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 67 0.300 None 1.000 1 2008 2008
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 67 0.300 None 1.000 1 2008 2008
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 67 0.300 None 1.000 1 2008 2008
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 67 0.300 None 1.000 1 2008 2008
CUI: C0270823
Disease: Petit mal status
Petit mal status 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 67 0.300 None 1.000 1 2008 2008
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 2 0.300 None 1.000 1 2010 2010
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2010 2010
CUI: C0018672
Disease: Head Banging
Head Banging 		phenotype Mental Disorders Mental or Behavioral Dysfunction 3 3 0.300 None 1.000 1 2010 2010
CUI: C0005899
Disease: Body Rocking
Body Rocking 		phenotype Mental Disorders Individual Behavior 3 0.300 None 1.000 1 2010 2010
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		disease Disease or Syndrome 1 0.300 None 0