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.
Horizontal eyebrow
CUI: C3277019
Disease: Horizontal eyebrow
1 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Hyperventilation
CUI: C0020578
Disease: Hyperventilation
2 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Inappropriate crying
CUI: C0860609
Disease: Inappropriate crying
2 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
8 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Psychomotor deterioration
CUI: C1836842
Disease: Psychomotor deterioration
2 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Sandal gap
CUI: C1840069
Disease: Sandal gap
6 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
5 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2003 2006
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2010 2015
Ataxic
CUI: C0234366
Disease: Ataxic
4 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2011 2011
Sleep Disorders
CUI: C0851578
Disease: Sleep Disorders
38 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
23 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006