rs267608493, CDKL5

N. diseases: 5
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.
Cyclin-dependent kinase-like 5 deficiency
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
116 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 0
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
47 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.827 0.200 X 18584331 missense variant C/A;T snv 0.010 1.000 1 2012 2012
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.827 0.200 X 18584331 missense variant C/A;T snv 0.010 1.000 1 2012 2012
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.827 0.200 X 18584331 missense variant C/A;T snv 0.700 1.000 18 2003 2017