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: rs1555951954
rs1555951954 		X 18604030 frameshift variant AAACCTTGCTGGAG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 2004 2016
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: 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: 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
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 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: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555955296
rs1555955296 		0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs122460159
rs122460159 		0.807 0.200 X 18564496 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 1.000 6 2008 2017
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: rs122460159
rs122460159 		0.807 0.200 X 18564496 missense variant 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