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: C3714043
Disease: Trisomy Xq28
Trisomy Xq28 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.500 None 0
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: 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: 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
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 13 15 0.400 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: 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: 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: 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: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 13 5 0.300 None 1.000 1 2009 2009
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: C0427201
Disease: Floppy Muscles
Floppy Muscles 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 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: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 156 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: C0027066
Disease: Myoclonus
Myoclonus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 13 0.400 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: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 0.300 None 1.000 1 2009 2009
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: 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: 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: C0021712
Disease: Myoclonus, Intention
Myoclonus, Intention 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 1 0.300 None 1.000 1 2009 2009
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: 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
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