Gene table of TBC1D24 : TBC1 domain family member 24

Gene-disease associations table

Disease IDDisease nameSource of annotation with TBC1D24OMIM linkNumber of associated genesgenes
PS308350EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 37SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, PNKP, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, CDKL5, GABRA1, SLC12A5, DOCK7, ARX, GRIN2B, NECAP1, PIGA
PS124900DEAFNESS, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 33GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2
PS220290DEAFNESS, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 60CLIC5, KARS, GJB2, CABP2, HGF, DFNB59, GIPC3, MET, EPS8, MYO3A, MARVELD2, CDH23, OTOF, ELMOD3, ESRRB, RDX, LRTOMT, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, TPRN, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, DCDC2, OTOGL, SLC26A5, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA
220500DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1TBC1D24
PS254800EPILEPSY, PROGRESSIVE MYOCLONICClinVar link to OMIM 12CERS1, PRICKLE1, KCTD7, SCARB2, CSTB, TBC1D24, PRDM8, LMNB2, NHLRC1, KCNC1, GOSR2, EPM2A
605021MYOCLONIC EPILEPSY, FAMILIAL INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 1TBC1D24

Download the gene annotation in CSV format

Annotation of the gene TBC1D24

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
enzyme regulator activityGO:00302342.85
GTPase activator activityGO:00050964.11
GTPase regulator activityGO:00306954.01
enzyme activator activityGO:00080473.56
protein bindingGO:00055150.46
molecular function regulatorGO:00987722.51
nucleoside-triphosphatase regulator activityGO:00605893.92
bindingGO:00054880.18