MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Source: BEFREE ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.900 1.000 11 1999 2017
dbSNP: rs28934907
rs28934907 		0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.840 1.000 4 1999 2017
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.020 1.000 2 2010 2015
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.020 1.000 2 2003 2006
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		0.010 1.000 1 2006 2006
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.710 1.000 1 2000 2019
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0234366
Disease: Ataxic
Ataxic 		0.010 1.000 1 2011 2011
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2006 2006
dbSNP: rs28934907
rs28934907 		0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.050 1.000 5 2002 2016
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.030 1.000 3 2002 2005
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2002 2016
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2000 2000
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C1968551
Disease: Mental Retardation, X-Linked 79
Mental Retardation, X-Linked 79 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		0.010 1.000 1 2014 2014
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2000 2000
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2002 2016
dbSNP: rs28935468
rs28935468 		0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.870 1.000 7 1999 2017
dbSNP: rs61750240
rs61750240 		0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.760 1.000 6 2000 2016
dbSNP: rs28935468
rs28935468 		0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010