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: C4505436
Disease: Generalized Absence Seizures
Generalized Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 2010 2010
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 104 0.300 None 1.000 1 2010 2010
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.310 None 1.000 1 2010 2011
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 102 5 0.400 None 1.000 1 2010 2010
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 1 0.310 None 1.000 1 2007 2010
CUI: C3713418
Disease: Ppm-X Syndrome
Ppm-X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.320 None 1.000 1 2002 2016
CUI: C3495874
Disease: Nonepileptic Seizures
Nonepileptic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 101 0.300 None 1.000 1 2010 2010
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 29 0.320 None 1.000 1 2001 2003
CUI: C0751496
Disease: Seizures, Sensory
Seizures, Sensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0.300 None 1.000 1 2010 2010
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 6 45 0.310 None 1.000 1 2009 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 507 203 0.540 None 1.000 1 2001 2015
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 29 0.300 None 1.000 1 2010 2010
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		disease Mental Disorders Mental or Behavioral Dysfunction 44 0.300 None 1.000 1 2012 2012
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 104 9 0.300 None 1.000 1 2010 2010
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 101 0.300 None 1.000 1 2010 2010
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2010 2010
CUI: C0751355
Disease: Polymyoclonus
Polymyoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		disease Respiratory Tract Diseases Disease or Syndrome 83 0.300 None 1.000 1 2011 2011
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 30 1 0.380 None 1.000 1 2003 2019
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2009 2009
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2009 2009
CUI: C0030214
Disease: Myoclonus, Palatal
Myoclonus, Palatal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 13 15 0.400 None 1.000 1 2009 2009
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		disease Respiratory Tract Diseases Disease or Syndrome 85 0.320 None 1.000 1 2011 2017