rs28934906, MECP2

N. diseases: 46
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 0.716 0.320 X 154031355 missense variant G/A snv 0.900 1.000 58 1999 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 7 2000 2019
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.716 0.320 X 154031355 missense variant G/A snv 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 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 10 1999 2016
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
Abnormal ocular motility
CUI: C0497202
Disease: Abnormal ocular motility
6 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Abnormality of the fingertips
CUI: C4025796
Disease: Abnormality of the fingertips
1 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Apnea
CUI: C0003578
Disease: Apnea
11 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Apraxia of Phonation
CUI: C0264611
Disease: Apraxia of Phonation
9 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
8 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Biting self
CUI: C0424375
Disease: Biting self
3 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Bruxism
CUI: C0006325
Disease: Bruxism
9 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
EEG with centrotemporal focal spike waves
CUI: C4022848
Disease: EEG with centrotemporal focal spike waves
1 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Facial grimacing
CUI: C0234853
Disease: Facial grimacing
2 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Full cheeks
CUI: C1866231
Disease: Full cheeks
4 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0