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: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		disease Disease or Syndrome 1 10 0.700 strong 1.000 10 10 2014 2018
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		disease Disease or Syndrome 1 7 0.800 strong 1.000 7 7 2010 2019
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		disease Disease or Syndrome 1 5 0.700 strong 1.000 6 5 2014 2018
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
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: C4706413
Disease: Progressive myoclonic epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia 		disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 2 2010 2013
CUI: C0795927
Disease: Deafness, congenital onychodystrophy, recessive form
Deafness, congenital onychodystrophy, recessive form 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 2 0.400 None 0 2
CUI: C4023369
Disease: Abnormality of placental membranes
Abnormality of placental membranes 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023413
Disease: Anterior plagiocephaly
Anterior plagiocephaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C4023890
Disease: Aplasia/Hypoplasia of the phalanges of the 2nd toe
Aplasia/Hypoplasia of the phalanges of the 2nd toe 		phenotype Finding 1 0.100 None 0
CUI: C4024939
Disease: Prolonged somatosensory evoked potentials
Prolonged somatosensory evoked potentials 		phenotype Finding 1 0.100 None 0
CUI: C4531131
Disease: Small cerebellar cortex
Small cerebellar cortex 		phenotype Finding 1 0.100 None 0
CUI: C4531228
Disease: Malalignment of the great toenail
Malalignment of the great toenail 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4476619
Disease: Poor visual behavior for age
Poor visual behavior for age 		phenotype Finding 2 0.100 None 0
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		disease Nervous System Diseases Disease or Syndrome 3 4 0.100 None 0 1
CUI: C4022915
Disease: Increased urine alpha-ketoglutarate concentration
Increased urine alpha-ketoglutarate concentration 		phenotype Finding 3 0.100 None 0
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 4 11 0.700 strong 0.941 17 11 2010 2019
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: C4024906
Disease: Hemifacial seizures
Hemifacial seizures 		disease Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2017 2017
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue 		phenotype Finding 6 1 0.100 None 0
CUI: C4551566
Disease: Equinovarus deformity of foot
Equinovarus deformity of foot 		phenotype Musculoskeletal Diseases Anatomical Abnormality 6 0.100 None 0
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
CUI: C4025792
Disease: EEG with irregular generalized spike and wave complexes
EEG with irregular generalized spike and wave complexes 		phenotype Finding 7 1 0.100 None 0