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: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes
disease Disease or Syndrome 18 0.010 None 1.000 1 2012 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2018 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2013 2013
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: C0241210
Disease: Speech Delay
Speech Delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 58 11 0.010 None 1.000 1 2015 2015
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 44 35 0.010 None 1.000 1 2018 2018
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: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.010 None 1.000 1 2008 2008
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear
disease Mental or Behavioral Dysfunction 51 0.010 None 1.000 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2017 2017
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.010 None 1.000 1 2019 2019
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy
disease Nervous System Diseases Disease or Syndrome 26 10 0.010 None 1.000 1 2014 2014
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2017 2017
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.010 None 1.000 1 2019 2019
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: 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: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation
phenotype Mental or Behavioral Dysfunction 22 3 0.010 None 1.000 1 2020 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: C0037763
Disease: Spasm
Spasm
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 9 0.010 None 1.000 1 2011 2011
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom
phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2018 2018
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 2017 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2012 2012
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures
disease Nervous System Diseases Disease or Syndrome 75 9 0.010 None 1.000 1 2019 2019
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.010 None 1.000 1 2008 2008
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.010 None 1.000 1 2005 2005