rs28934908, MECP2

N. diseases: 23
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.800 1.000 10 2000 2007
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.710 1.000 7 2002 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 1.000 8 2000 2016
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
11 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Stenosis of external auditory canal
CUI: C0395837
Disease: Stenosis of external auditory canal
4 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.050 1.000 5 2002 2016
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.030 1.000 3 2002 2005
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
13 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.020 1.000 2 2002 2016
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
Behavioral and psychological symptoms of dementia
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
9 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2014 2014
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
Mental Retardation, X-Linked 79
CUI: C1968551
Disease: Mental Retardation, X-Linked 79
1 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2002 2002
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2000 2000
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2016 2016
Pervasive Development Disorder
CUI: C0524528
Disease: Pervasive Development Disorder
49 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2000 2000