rs61748421, MECP2

N. diseases: 9
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.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.807 0.200 X 154031326 stop gained G/A;T snv 0.740 1.000 42 1999 2014
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 1.000 7 1999 2014
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 0
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2004 2004
Pain
CUI: C0030193
Disease: Pain
196 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2010 2010
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2009 2009