rs267608327, MECP2

N. diseases: 25
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.
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 1.000 11 2000 2011
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 1.000 5 2004 2013
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
8 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
8 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
8 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
7 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Head titubation
CUI: C1608410
Disease: Head titubation
1 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Intention tremor
CUI: C4551520
Disease: Intention tremor
6 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Loss of speech
CUI: C0542223
Disease: Loss of speech
8 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Maternal anticardiolipin antibody positive
CUI: C4022860
Disease: Maternal anticardiolipin antibody positive
1 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Poor coordination
CUI: C0563243
Disease: Poor coordination
8 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Recurrent respiratory infections
CUI: C3806482
Disease: Recurrent respiratory infections
7 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
Thyroiditis
CUI: C0040147
Disease: Thyroiditis
7 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0