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: C0009171
Disease: Cocaine Abuse
Cocaine Abuse
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 127 0.300 None 1.000 1 2010 2010
CUI: C0236736
Disease: Cocaine-Related Disorders
Cocaine-Related Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 117 0.500 None 1.000 1 2010 2010
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: 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: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 339 1.000 definitive 0.977 50 335 1975 2020
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 11 27 1999 2018
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 3 43 1975 2018
Lubs X-linked mental retardation syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction 2 8 0.800 strong 1.000 1 8 1999 2019
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: 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: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 135 0.500 strong 0.917 0 9 2001 2014
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: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 507 203 0.540 None 1.000 1 2001 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 261 181 0.500 None 0.919 3 3 2000 2019
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: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 44 20 0.340 None 1.000 1 2012 2018
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 30 1 0.380 None 1.000 1 2003 2019
Child Development Disorders, Pervasive
group Mental Disorders Mental or Behavioral Dysfunction 3 379 0.300 None 1.000 1 2012 2012
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
Child Development Disorders, Specific
disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2009 2009
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic
disease Mental Disorders Mental or Behavioral Dysfunction 44 0.300 None 1.000 1 2012 2012
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: 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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 109 90 0.400 None 0.818 1 2005 2020
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2018 2018