rs28934907, MECP2

N. diseases: 30
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 0.732 0.320 X 154032268 missense variant G/A;C snv 0.840 1.000 30 1999 2017
Abdomen distended
CUI: C0000731
Disease: Abdomen distended
6 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Abdominal Pain
CUI: C0000737
Disease: Abdominal Pain
18 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Actual Aspiration
CUI: C2712334
Disease: Actual Aspiration
8 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Bruxism
CUI: C0006325
Disease: Bruxism
9 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Chronic constipation
CUI: C0401149
Disease: Chronic constipation
16 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Diffuse cerebral atrophy
CUI: C0598275
Disease: Diffuse cerebral atrophy
2 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
6 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Head Banging
CUI: C0018672
Disease: Head Banging
3 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Premature delivery because of cervical insufficiency or membrane fragility
1 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
8 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Repetitive compulsive behavior
CUI: C1969697
Disease: Repetitive compulsive behavior
4 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0