rs61750241, MECP2

N. diseases: 7
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 19 1993 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 19 1993 2016
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 11 1999 2012
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 3 1999 2012
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
8 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 3 1999 2012
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 3 1999 2012
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 0