rs122460159, CDKL5

N. diseases: 6
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 0.807 0.200 X 18564496 missense variant C/T snv 0.700 1.000 6 2008 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.807 0.200 X 18564496 missense variant C/T snv 0.700 0
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
47 0.807 0.200 X 18564496 missense variant C/T snv 0.700 0
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2012 2012
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2015 2015
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.807 0.200 X 18564496 missense variant C/T snv 0.010 1.000 1 2015 2015