Source: HPO

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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.500 None 0.919 0 0 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 0 0 2000 2020
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 0 0 2000 2019
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: 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: 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: 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.200 None 1.000 0 0 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: 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
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.170 None 1.000 0 0 2003 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.150 None 1.000 0 0 2005 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.140 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: C0003467
Disease: Anxiety
Anxiety 		disease 0.140 None 1.000 0 0 2014 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.130 None 1.000 0 0 2009 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.130 None 1.000 0 0 2002 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.130 None 1.000 0 0 2007 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.130 None 1.000 0 0 2008 2011
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.130 None 1.000 0 0 2015 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease 0.130 None 1.000 0 0 2008 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.130 None 1.000 0 0 2009 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.120 None 1.000 0 0 2015 2018