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: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 6 0.010 None 1.000 1 1998 1998
CUI: C2931426
Disease: Orofaciodigital syndrome type1
Orofaciodigital syndrome type1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		phenotype Finding 3 2 0.100 None 0 1
CUI: C4023013
Disease: Stereotypical body rocking
Stereotypical body rocking 		disease Mental Disorders Mental or Behavioral Dysfunction 3 1 0.100 None 0 1
CUI: C3281034
Disease: Multifocal seizures
Multifocal seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.100 None 0
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: C0752324
Disease: Focal Tonic Seizures
Focal Tonic Seizures 		disease Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0 1
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: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None < 0.001 1 2010 2010
CUI: C4024167
Disease: Abnormality of the antitragus
Abnormality of the antitragus 		disease Anatomical Abnormality 7 0.100 None 0
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: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2006 2006
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		phenotype Finding 8 6 0.100 None 0
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 8 0.100 None 0 1
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		disease Mental Disorders Mental or Behavioral Dysfunction 8 5 0.100 None 0 1
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: C0438414
Disease: Myoclonic Encephalopathy
Myoclonic Encephalopathy 		disease Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2006 2006
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		phenotype Disease or Syndrome 11 0.010 None 1.000 1 2009 2009
CUI: C0752323
Disease: Focal Clonic Seizures
Focal Clonic Seizures 		disease Nervous System Diseases Disease or Syndrome 12 1 0.100 None 0 1
CUI: C0268059
Disease: Neonatal hemochromatosis
Neonatal hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 1998 1998
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		disease Eye Diseases Disease or Syndrome 13 6 0.100 None 0 6
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
CUI: C4023484
Disease: Uni- and bilateral multifocal epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges 		phenotype Finding 14 0.100 None 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		phenotype Finding 15 0.100 None 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Anatomical Abnormality 16 2 0.100 None 0