MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
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: 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 2 2010 2010
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 93 4 0.400 None 0.993 2 2000 2020
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 2 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 2 2010 2010
Chromosome Xq28 Duplication Syndrome
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 2 2018 2019
CUI: C0751349
Disease: Myoclonus, Eyelid
Myoclonus, Eyelid
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2009 2009
CUI: C0751350
Disease: Myoclonus, Lower Extremity
Myoclonus, Lower Extremity
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0751351
Disease: Myoclonus, Segmental
Myoclonus, Segmental
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0751348
Disease: Myoclonus Simplex
Myoclonus Simplex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 1 0.300 None 1.000 1 2009 2009
CUI: C0751352
Disease: Myoclonus, Nocturnal
Myoclonus, Nocturnal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 2 0.370 None 1.000 1 2000 2016
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2010 2010
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2010 2010
CUI: C0427202
Disease: Muscle Tone Atonic
Muscle Tone Atonic
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2009 2009
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 104 21 0.400 None 1.000 1 2010 2010
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder
group Mental Disorders Mental or Behavioral Dysfunction 3 0.400 None 1.000 1 2002 2019
CUI: C0585540
Disease: Myoclonus, Oculopalatal
Myoclonus, Oculopalatal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 139 5 0.310 None 1.000 1 2010 2016
CUI: C0751056
Disease: Non-epileptic convulsion
Non-epileptic convulsion
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0.300 None 1.000 1 2010 2010
CUI: C0751110
Disease: Single Seizure
Single Seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 2010 2010
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018
CUI: C0751123
Disease: Atonic Absence Seizures
Atonic Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 2010 2010
CUI: C0751353
Disease: Myoclonus, Upper Extremity
Myoclonus, Upper Extremity
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0751354
Disease: Myoclonus, Action
Myoclonus, Action
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009