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: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant C/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 0
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/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: 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: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/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: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/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: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 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 0.710 1.000 1 2019 2019
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0006325
Disease: Bruxism
Bruxism 		Stomatognathic Diseases 0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 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: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C4023013
Disease: Stereotypical body rocking
Stereotypical body rocking 		Mental Disorders 0.700 0
dbSNP: rs587783405
rs587783405 		0.851 0.160 X 18588021 stop gained C/T snv
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		Mental Disorders 0.700 0
dbSNP: rs62641235
rs62641235 		0.851 0.200 X 18575423 missense variant T/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs62641235
rs62641235 		0.851 0.200 X 18575423 missense variant T/A;C 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: rs62641235
rs62641235 		0.851 0.200 X 18575423 missense variant T/A;C snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs62641235
rs62641235 		0.851 0.200 X 18575423 missense variant T/A;C snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 0
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/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: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 20 1997 2016