TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 CausalMutation disease CLINVAR
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 CausalMutation disease CLINVAR
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.760 Biomarker disease CTD_human
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 Biomarker disease CTD_human
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 Biomarker disease CTD_human
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 		0.400 CausalMutation disease CLINVAR
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 		0.400 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.180 Biomarker phenotype HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.150 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.150 Biomarker disease HPO
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		0.150 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.120 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		0.100 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.100 Biomarker disease HPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		0.100 Biomarker disease HPO
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.100 Biomarker disease HPO