Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.977 132 316 1975 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
Lubs X-linked mental retardation syndrome
disease 0.800 strong 1.000 3 8 1999 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
disease 0.720 strong 1.000 81 42 1975 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
Mental Retardation, X-Linked, Syndromic 13
disease 0.700 strong 1.000 6 23 1999 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.500 None 0.923 6 6 2000 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.500 None 0.963 6 1 2000 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.500 None 1.000 1 1 2008 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease 0.500 None 0.919 0 3 2000 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
disease 0.500 strong 0.917 0 9 2001 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
disease 0.420 None 1.000 0 1 2006 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype 0.400 None 1.000 19 10 1993 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0424230
Disease: Motor retardation
Motor retardation
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0027066
Disease: Myoclonus
Myoclonus
phenotype 0.400 None 1.000 0 0 2009 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease 0.400 None 1.000 0 0 2010 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype 0.400 None 1.000 0 0 2009 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
disease 0.400 None 1.000 0 1 2010 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical
disease 0.200 None 0.923 0 1 2001 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.200 None 1.000 0 5 2002 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group 0.200 None 1.000 0 0 2000 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease 0.200 None 0.957 0 2 2000 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease 0.200 None 1.000 0 0 2000 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype 0.190 None 1.000 6 2 2000 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype 0.190 None 1.000 0 0 2000 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease 0.180 None 1.000 0 0 2001 2020