rs62641235, CDKL5

N. diseases: 4
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 0.851 0.200 X 18575423 missense variant T/A;C snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.851 0.200 X 18575423 missense variant T/A;C snv 0.700 0
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.851 0.200 X 18575423 missense variant T/A;C snv 0.700 0
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
47 0.851 0.200 X 18575423 missense variant T/A;C snv 0.700 0