rs28935468, MECP2

N. diseases: 14
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 0.732 0.240 X 154030912 missense variant G/A snv 0.870 1.000 40 1999 2017
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.732 0.240 X 154030912 missense variant G/A snv 0.700 1.000 9 2000 2016
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
76 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
31 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
78 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Epileptic drop attack
CUI: C0270846
Disease: Epileptic drop attack
5 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
125 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Inappropriate laughter
CUI: C0424304
Disease: Inappropriate laughter
2 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
36 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
5 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0