rs61749721, MECP2

N. diseases: 17
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 0.200 X 154031065 stop gained G/A snv 0.720 1.000 10 1999 2010
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.732 0.200 X 154031065 stop gained G/A snv 0.700 1.000 7 1975 2015
Abnormal involuntary eye movements
CUI: C4022855
Disease: Abnormal involuntary eye movements
2 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Ataxia, Truncal
CUI: C0427190
Disease: Ataxia, Truncal
13 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
8 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Central hypoventilation
CUI: C3805839
Disease: Central hypoventilation
1 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Hand-wringing
CUI: C0239846
Disease: Hand-wringing
1 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
8 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Vertical Nystagmus
CUI: C0271386
Disease: Vertical Nystagmus
2 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.732 0.200 X 154031065 stop gained G/A snv 0.020 1.000 2 2010 2015
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.732 0.200 X 154031065 stop gained G/A snv 0.010 1.000 1 2017 2017