rs61750240, MECP2

N. diseases: 17
Source: CURATED ×
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.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
339 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.760 1.000 21 2000 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 19 1993 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
240 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 19 1993 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 19 1993 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 8 2000 2013
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
8 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
8 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Motor deterioration
CUI: C1866284
Disease: Motor deterioration
1 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Progressive microcephaly
CUI: C1850456
Disease: Progressive microcephaly
4 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0