rs587783405, CDKL5

N. diseases: 9
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.
Bruxism
CUI: C0006325
Disease: Bruxism
9 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Cyclin-dependent kinase-like 5 deficiency
116 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Delayed speech and language development
192 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Stereotypical body rocking
CUI: C4023013
Disease: Stereotypical body rocking
1 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
5 0.851 0.160 X 18588021 stop gained C/T snv 0.700 0