TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.100 None 1.000 12 2013 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.110 None 1.000 12 1 2014 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.190 None 1.000 9 2010 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.180 None 1.000 9 8 2014 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.150 None 1.000 5 2014 2019
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.150 None 1.000 5 2014 2019
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.150 None 1.000 5 2014 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 0.040 None 1.000 4 2014 2019
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
disease Nervous System Diseases Disease or Syndrome 73 23 0.040 None 1.000 4 2010 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
disease Nervous System Diseases Disease or Syndrome 12 30 0.100 None 1.000 4 6 2014 2017
CUI: C0264009
Disease: Osteodystrophy
Osteodystrophy
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 7 0.040 None 1.000 4 2017 2019
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
phenotype Finding 1 6 0.100 None 1.000 4 6 2014 2017
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.120 None 1.000 2 2013 2016
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 4 11 0.100 None 1.000 2 8 2014 2014
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 56 15 0.100 None 1.000 2 8 2014 2014
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 1.000 2 8 2014 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome
disease Nervous System Diseases Disease or Syndrome 149 28 0.020 None 1.000 2 2013 2014
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 67 11 0.100 None 1.000 2 8 2014 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.120 None 1.000 2 2014 2014
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit
phenotype Anatomical Abnormality 9 9 0.100 None 1.000 2 8 2014 2014
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 1.000 2 8 2014 2014
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes
disease Nervous System Diseases Disease or Syndrome 46 2 0.020 None 1.000 2 2014 2015
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 1.000 2 9 2014 2014
Progressive myoclonic epilepsy with dystonia
disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2010 2013
Auditory neuropathy spectrum disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.010 None 1.000 1 2014 2014