MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
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.
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 43 0.720 strong 1.000 86 43 1975 2018
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 27 0.700 strong 1.000 17 27 1999 2018
CUI: C2749007
Disease: Chromosome Xq28 Duplication Syndrome
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: C2931847
Disease: Type I familial incomplete male pseudohermaphroditism
Type I familial incomplete male pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.020 None 1.000 2 2010 2013
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 2 2002 2016
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: C0026210
Disease: Mirror Writing
Mirror Writing 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: C1839332
Disease: Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Preserved Speech Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2009 2009
CUI: C1968551
Disease: Mental Retardation, X-Linked 79
Mental Retardation, X-Linked 79 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2002 2002
CUI: C0020039
Disease: Hostility
Hostility 		phenotype Behavior and Behavior Mechanisms Mental Process 1 0.100 None 0
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0425492
Disease: Irregular breathing
Irregular breathing 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1510417
Disease: Gait Apraxia
Gait Apraxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.100 None 0
CUI: C1844946
Disease: Episodic hypoventilation
Episodic hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 1 1 0.100 None 0 1
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		disease Finding 1 8 0.100 None 0 8
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 2 0.100 None 0 2
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: C4022860
Disease: Maternal anticardiolipin antibody positive
Maternal anticardiolipin antibody positive 		phenotype Finding 1 1 0.100 None 0 1