PS308350 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 37 | SZT2, 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 |
PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, 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 |
PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 60 | CLIC5, 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 |
220500 | DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | TBC1D24 |
PS254800 | EPILEPSY, PROGRESSIVE MYOCLONIC | ClinVar | link to OMIM | 12 | CERS1, PRICKLE1, KCTD7, SCARB2, CSTB, TBC1D24, PRDM8, LMNB2, NHLRC1, KCNC1, GOSR2, EPM2A |
605021 | MYOCLONIC EPILEPSY, FAMILIAL INFANTILE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | TBC1D24 |