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: 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: rs104894933
rs104894933 		0.925 0.040 X 18647296 missense variant C/A snv 9.5E-06
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs104894934
rs104894934 		0.925 0.040 X 18647192 missense variant C/A;G snv 1.6E-05
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs202153551
rs202153551 		1.000 0.160 X 18650466 stop gained C/T snv 2.0E-04 6.6E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
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: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;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: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608665
rs267608665 		1.000 0.040 X 18650520 stop gained C/A;T snv 5.5E-06; 1.1E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs281865352
rs281865352 		0.925 0.040 X 18642101 missense variant G/A snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.010 1.000 1 1998 1998
dbSNP: rs281865354
rs281865354 		0.925 0.040 X 18642090 missense variant G/A snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs281865360
rs281865360 		0.925 0.040 X 18642058 missense variant G/A;C;T snv 5.5E-06
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2016 2016
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: rs281865364
rs281865364 		0.925 0.040 X 18642041 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: 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: rs35693326
rs35693326 		X 18653446 missense variant G/A;T snv 8.5E-03; 5.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs61752061
rs61752061 		1.000 0.040 X 18647250 stop gained A/G;T snv 5.4E-06
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 1999 1999
dbSNP: rs61752068
rs61752068 		0.925 0.040 X 18647212 missense variant C/T snv 5.5E-06 9.6E-06
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs61752072
rs61752072 		0.925 0.040 X 18647194 missense variant A/C snv
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked 		Eye Diseases 0.010 1.000 1 2018 2018
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