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: rs4825261
rs4825261 		X 18579749 intron variant C/A;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs61753166
rs61753166 		1.000 X 18644463 stop gained C/A;T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs1057516744
rs1057516744 		1.000 X 18644454 stop gained G/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 1 2011 2011
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: rs267608395
rs267608395 		0.925 0.200 X 18604599 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 1.000 1 2009 2009
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: 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: 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: rs61752147
rs61752147 		1.000 0.040 X 18644586 stop gained C/G;T snv
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		Eye Diseases 0.010 1.000 1 2003 2003
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: rs863225289
rs863225289 		1.000 0.160 X 18628590 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 1.000 1 2006 2006
dbSNP: rs1057518203
rs1057518203 		1.000 0.160 X 18603930 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: rs1057519541
rs1057519541 		1.000 0.040 X 18628515 stop gained C/T snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.700 0
dbSNP: rs122460158
rs122460158 		0.925 0.200 X 18628374 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: rs122460158
rs122460158 		0.925 0.200 X 18628374 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: rs1555950066
rs1555950066 		1.000 0.160 X 18584307 stop gained G/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: rs1555951991
rs1555951991 		1.000 0.160 X 18604170 stop gained G/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: rs1555952015
rs1555952015 		1.000 0.160 X 18604269 stop gained G/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: rs1555952052
rs1555952052 		1.000 0.160 X 18604443 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: rs1555954074
rs1555954074 		1.000 0.160 X 18619935 stop gained C/A 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: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0