CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 234 368 0.500 None 0.962 78 3 2004 2019
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease Disease or Syndrome 33 59 0.100 None 1.000 51 56 1997 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 0.975 40 2 2004 2019
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.700 definitive 0.972 36 17 2003 2019
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 116 0.200 None 1.000 36 116 2005 2020
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.500 None 0.967 30 6 2004 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.200 None 0.966 29 5 2007 2019
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.200 None 1.000 22 3 2004 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 17 2 2004 2016
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 47 0.500 None 0.923 13 41 2008 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.200 None 1.000 12 2 2008 2019
CUI: C0410539
Disease: Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 2 0.100 None 1.000 11 1 2019 2020
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.100 None 1.000 11 1 2008 2020
CUI: C2675746
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 2 0.100 None 1.000 11 1 2019 2020
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease Nervous System Diseases Disease or Syndrome 53 122 0.200 None 1.000 10 2 2002 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.070 None 1.000 7 2003 2013
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.070 None 1.000 7 1 2003 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.140 None 0.750 4 1 2010 2017
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 71 9 0.030 None 1.000 3 2006 2011
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 135 0.520 strong 1.000 3 2004 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.030 None 1.000 3 2012 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.030 None 1.000 3 2011 2019
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.020 None 1.000 2 2016 2017
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.410 None 1.000 2 2011 2012
CUI: C0796085
Disease: Nance-Horan syndrome
Nance-Horan syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 14 20 0.020 None 0.500 2 2002 2007