CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267608501
rs267608501 		0.882 0.160 X 18587986 missense variant C/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs61749700
rs61749700 		0.882 0.200 X 18584324 missense variant A/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs281865362
rs281865362 		0.882 0.040 X 18642053 missense variant C/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865365
rs281865365 		0.882 0.040 X 18642042 missense variant G/A;T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752144
rs61752144 		0.882 0.040 X 18644616 missense variant C/A;G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.020 1.000 2 1999 1999
dbSNP: rs281865365
rs281865365 		0.882 0.040 X 18642042 missense variant G/A;T snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.020 1.000 2 1999 2010
dbSNP: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.010 1.000 1 1998 1998
dbSNP: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs267608472
rs267608472 		0.882 0.160 X 18579965 stop gained C/T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608472
rs267608472 		0.882 0.160 X 18579965 stop gained C/T snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs281865362
rs281865362 		0.882 0.040 X 18642053 missense variant C/T snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs281865362
rs281865362 		0.882 0.040 X 18642053 missense variant C/T snv
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		Eye Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs281865365
rs281865365 		0.882 0.040 X 18642042 missense variant G/A;T snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs61752144
rs61752144 		0.882 0.040 X 18644616 missense variant C/A;G snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.010 1.000 1 2003 2003
dbSNP: rs61752144
rs61752144 		0.882 0.040 X 18644616 missense variant C/A;G snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.700 0
dbSNP: rs122460157
rs122460157 		0.882 0.200 X 18581942 missense variant G/A;T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs122460157
rs122460157 		0.882 0.200 X 18581942 missense variant G/A;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs122460157
rs122460157 		0.882 0.200 X 18581942 missense variant G/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 0
dbSNP: rs267608472
rs267608472 		0.882 0.160 X 18579965 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs267608501
rs267608501 		0.882 0.160 X 18587986 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs267608501
rs267608501 		0.882 0.160 X 18587986 missense variant C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs61749700
rs61749700 		0.882 0.200 X 18584324 missense variant A/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0