Source: CLINVAR

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 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: 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: 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: 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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 0.180 None 1.000 0 1 2006 2018
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 2 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 1 2005 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.140 None 1.000 0 1 2017 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease 0.140 None 1.000 0 1 2012 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.140 None 1.000 0 1 2004 2019
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 1 2009 2020
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 1 2008 2017
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 1 2008 2011
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 6 2007 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.120 None 1.000 0 1 2009 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.110 None 1.000 0 1 2018 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.110 None 1.000 0 1 2012 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1848395
Disease: Large for gestational age
Large for gestational age 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 0 2
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 3