HP:0000365: Hearing impairment

Genes 2062

FUS WHCR TCAP DNAI1 KITLG NAA10 AP1S2 STRC MYH9 DMXL2 ST3GAL5 SLC26A4 IGBP1 NALCN WNT10B TRNS2 XYLT2 RRM2B OTUD6B TRPS1 ERCC2 GRXCR2 TACR3 TNFRSF11A IFT172 EDN1 PRRT2 HNF1B CAP2 ZNF469 SETD5 PSMD12 TUBB3 ZIC1 FGF17 DNAH11 HESX1 KCNJ11 CCDC141 SOX10 SETBP1 PTPRQ PEX10 CTNNB1 USP9X MAFB KIF7 POU3F4 TRIOBP COCH POLG DNASE1L3 TSPAN7 PIEZO1 PRPF4 TUB PRMT7 MYO7A NDUFS1 GSC RAP1B PTPN11 SOS1 POMK TRNS1 MECOM CCDC39 DIABLO SDCCAG8 PRPF6 SHOC2 CNGA1 LMNB2 NDUFS3 ACTG1 PROK2 ND3 XRCC2 SOST ARHGEF18 SLC29A3 ACOX1 FGFR3 ELAC2 STAMBP PRPF3 NOG POLR3H COX6B1 TCOF1 KCNE1 SGPL1 ANTXR1 FGFR3 EBP SOX10 RPL10 CEACAM16 COLEC11 TIMM8A FGFR3 CEACAM16 FGF10 TRNS1 SOX4 PTPN11 ARMC4 RAB23 FKTN NRAS DHDDS SDHC PHEX SLC26A5 GJA1 IGF1 ERCC2 FBN1 ANKRD11 SQSTM1 PIGS CDK5RAP2 USP9X RIPOR2 CIB2 POU4F3 FAM20C GCK UPF3B PAK3 HLA-DPA1 CHCHD10 PAX2 DLX5 FLNA SDHB GBA2 LHX3 TWIST2 PDK3 IDUA PRPS1 ECHS1 BBS1 FOXI1 OSBPL2 MAN2B1 ERCC3 ACSL4 ESRP1 CFAP300 PNPLA2 SGMS2 CDC6 CYP7B1 SEMA3D STK36 C8ORF37 ASPA GP1BB SLC52A2 EYA1 PROKR2 LCA5 KCNE5 SOX2 BRCA1 RERE POR RFWD3 DUSP6 NDUFS2 TBC1D24 RPS28 ASXL1 COL7A1 ATP8B1 AGTR2 DKC1 BPNT2 IFT140 ITGB3 FGFR1 ND5 PEX3 PRPS1 SDHA EIF3F GPC3 AGRN PRPH2 ARL6 ABCA4 ADAT3 DMD DNAAF5 CEP57 TULP1 SUCLA2 PEX12 SRY MARVELD2 LOXL3 HOXA11 ALOX12B CDCA7 ERCC4 DEAF1 BCOR AP1B1 EDNRA HDAC8 GMPPB PEPD TRAPPC12 TGFB1 PEX26 NDUFS7 NPHP1 BMP15 CLRN1 PIGA SCN5A EPS8L2 NOG COL11A1 MAPK1 SLC19A2 SNRPB NSUN2 PROK2 KRAS PLXND1 TXNRD2 PPP1R15B FAT4 MCIDAS PEX1 FIBP ALOXE3 SLC39A8 GJB2 IGF1 TANGO2 TRNL1 ANKRD11 ZFP57 SOST ARL3 AKT1 S1PR2 MYH9 LONP1 NDUFA10 IRF6 TRNC BCS1L DNAJB13 TERT DCAF17 SALL4 MECOM SMCHD1 COL2A1 NDUFS1 CDH23 PAX3 ITGA2 USP7 SOST ND2 LETM1 EYA4 SMC3 GJB3 VAMP1 TBX1 SP7 PLCB4 TUBB4A COL4A5 PDE4D NDUFAF3 DNMT1 BNC1 RBM10 SRCAP ROR1 GAA PSAP PCDH15 LHX1 EYA1 TBX4 UBE2T TACO1 SPAG1 ARL2BP NDUFA9 FGFR3 ZBTB20 RPS23 MFN2 PIGO RPGRIP1 EPG5 IQCB1 SLC9A7 RPS26 ASCL1 KIT COX20 FANCE ALG13 COL2A1 FLNB LMX1A ARSA POU3F4 FAM161A CDH23 CHD7 RRM2B EDNRB ACY1 FGFR3 USH2A GNAS RD3 MITF GUCY2D FOXRED1 PIK3C2A SOX9 DNAAF4 NARS2 COL2A1 RRAS TRNF SDHC TBC1D24 NDUFV1 HTRA2 SLC19A2 SEC23B SPRY4 BAG3 RPL10 KIF7 DLX4 NRXN1 PSMC3IP KYNU FGFR1 KIAA1549 TBC1D24 PPP1R15B NOTCH2 GRIP1 LORICRIN DACT1 MYO7A C1QBP ARID2 BRAF MBTPS2 SOX10 GTF2E2 NMNAT1 PARN CASK GNAI3 TRAPPC11 TXNL4A SLC25A24 DHCR7 GALC COL27A1 KDSR BBS12 RLBP1 ST3GAL5 RNASEH1 DNAH1 SLC52A2 NEK2 FLNA CERKL NDUFS8 COG1 ND1 FANCA NDUFA13 DMP1 RRM2B SIX5 CDC45 CD151 KCNQ4 MYH7 LHX3 NSD2 BRAF GTF2H5 SON FANCM KCNE1 VHL TRNP IL17RD PEX10 BMP4 PSEN1 SLC10A7 ZMYND10 GJB2 ABCD1 HESX1 TBL1XR1 PEX14 TRIP13 UBR1 PEX13 MPLKIP DIAPH3 HARS1 AKT1 HAAO ARL6 FLRT3 NXN PPP2R3C PRPF31 KCNJ10 PDHA1 ND5 NDUFB11 GJB2 LRP2 PCNT OTUD6B GJA1 GTF2I PEX1 PLOD3 SOST PRPH2 GUSB CLRN1 SLX4 OPA1 KMT2D NEXN SYNE4 KCNN3 TCOF1 ALG12 SCO1 FGFR3 SLC26A2 CASK PCYT1A VPS11 OPA1 PNPT1 KCNJ10 PTCHD1 USP27X DNAAF6 GJB1 FANCI TRMT10A ABCC9 RPE65 MIR96 CLDN14 TANGO2 TTC8 IL17RD AHSG WBP2 FIG4 SPATA7 PEX6 ADGRV1 RPL10 COL9A3 AHR COL11A1 UGT1A1 GRHL2 PEX16 SNAP29 ATP6 BDP1 COL1A2 ORC1 ZNF711 TRNE LRRC6 OTX2 SLC25A4 NLRP3 TELO2 MED12 CASK SYT2 DCAF17 BPTF TSPEAR OAT CHN1 TRPV4 TAF1A SEMA3E SPRY4 RERE GJB2 STRC CCDC103 ERCC6 ARSG COL2A1 TP63 SPATA7 BBS10 HGSNAT NOTCH3 SIX1 ELMOD3 ND5 CTSA TWNK PTPRQ BCR TMPO TRAF7 RRM2B NOTCH3 ALX3 SDHD BEST1 MAP3K7 COL9A1 FSCN2 GABRD LRP5 CTBP1 CRX ERCC6 COX3 CRB1 NKX2-1 IFRD1 PEX12 FMR1 TRNS1 DPF2 HOXA2 EDN3 HCFC1 TBK1 PAX1 MSTO1 FLNA RAF1 MRPS22 DNAH9 RAC1 HSD17B10 GLI3 PEX19 ANKH SARDH CYTB DNAI1 TAC3 SMARCA4 TWIST1 MFN2 RSPH3 GFER GAB1 RECQL4 SH3TC2 EDN3 ABHD12 G6PC3 FAM149B1 TP63 FLNA TYMP SAG CEP78 MED12 TK2 NHP2 RIT1 COL11A2 ARID2 IL1RAPL1 MYH3 SNRPB MERTK PPCS PHF6 RET FLNA SOX10 COL4A4 SQSTM1 LMNA TRNQ NDP TP63 LONP1 SIN3A LOXHD1 FGFR2 TWIST2 SLITRK6 COX8A PQBP1 TBL1Y STAC3 KDM6A FANCE SDHD DUX4 P2RX2 LRP5 EPS8 TSHZ1 ITGB6 FZD2 ALMS1 GALE SLC4A11 TWIST1 LAMB1 NDUFS2 TMEM67 MAP3K7 DMP1 TMEM38B NAGA SMC1A GMPPA ARID1A SMCHD1 MOGS DHDDS STRC RET COX7B PEX7 SUCLA2 FANCD2 NF2 KCNC3 FKBP14 SOX2 ACTB VHL GLA CDC42 FGFR2 ERCC2 SLC25A11 FGF3 IQSEC2 GUCA1B PRKDC GLB1 PDE1C ATP6V1B2 DLG1 ND1 NAXD FXN KCNJ10 BCS1L ERCC5 FRAS1 TPRN ND6 SKI FIBP COMT GJA1 GPSM2 ACTB MTFMT NAA10 MKKS ANKH AK2 ROM1 KISS1 SOX10 FGFR2 SPNS2 CDC42 POLG THRB CARS2 TRNS1 ATP6V1B2 COX1 CFAP298 GATA2 SURF1 ZIC1 TP63 TECTA FUCA1 HS6ST1 DNAAF1 ND4 TMEM126A GAS2L2 MYH14 XPA DMXL2 TRNQ PCNA PTPN22 RAI1 MGP ELN TGFB1 SLC25A1 MFN2 SLX4 RPS6KA3 USF3 COX1 COX15 XPC PRKAR1A BUB3 OPA1 NDUFA11 FANCA DHX38 PET100 MASP1 TRNF MAD2L2 FOXI1 USH1C ERCC2 GJB4 PDZD7 ATP1A2 SMARCC2 TRNV RLBP1 SLC18A3 GDF6 COX14 CSRP3 CEP57 BMP4 PMPCB PEX12 TERC CLCNKB TRNN NDUFV1 BCS1L PTPN11 SMARCB1 GJB2 SEM1 CTLA4 ALDH18A1 DNMT1 SIX5 HNF1B IFT88 SF3B4 DCDC2 EYA1 NEDD4L ARSG KCNQ1 EPAS1 NUS1 OPA1 NLRP3 COQ6 PHYH TRNS2 OTOA BBS7 OTOGL KDM6A NDUFAF4 BBS2 CDKL5 RDH12 SLC39A8 IDUA CCNO MYO7A IDH3A SPRY4 EFNB1 PIGT LMNA BBS9 SQSTM1 GJB6 ARHGEF6 CNOT1 PEX26 TAZ FGFR3 POLR1D TK2 SIN3A PITX2 WFS1 CISD2 COA8 USH1G LIMK1 FLRT3 TBL2 SIX1 PAX2 BCAP31 LSS ND5 PNPLA6 TRNT1 TWNK TRNF PEX1 MSX1 LRP4 KIZ CDC45 ENPP1 TWIST1 MDH2 PRPF8 COL11A1 CYP7B1 USH2A RDH12 XPA ALG11 AFF4 TNNC1 RASA2 SOX2 VCL PEX1 TRNW ADAMTSL1 NDUFAF2 GIPC3 OFD1 CLCN7 XPNPEP3 ARNT2 HIRA ARSA PEX7 REV3L CEP250 CCBE1 SMCHD1 SNX14 MYH3 FGF8 NME8 RAD21 GDI1 NDUFAF3 DGUOK DPF2 HARS1 KMT2D POLG AIFM1 EDN3 CHD4 ERCC3 FANCF AHDC1 TP63 SIX1 HLA-DPB1 DLST PGM3 MYH9 PTRH2 SLC35A2 AMER1 EYA1 DUSP6 FGFR3 PMP22 COL11A1 NDUFAF5 COQ7 GJB6 POLR1C KCNJ11 ERCC2 ACVR1 TP63 ERCC4 PBX1 NR5A1 TMEM132E PEX2 GJB6 LMX1B PIK3CA FAT4 PTDSS1 COQ2 MPZ BTK TRNK RAI1 TRNL1 KIAA0753 SPEF2 TIMMDC1 NDUFA9 NSMF NDUFS4 SLC26A2 SOS2 RRAS2 CHST14 RHO PRDM5 SDHB FGFR1 KCNQ1 PEX6 SLC44A4 TK2 GJB2 TRNP PAX1 PIK3R1 IQSEC2 GPRASP2 ATRX GJB6 IRX5 ALMS1 MEOX1 FGFR3 SOX10 HBB PUS3 MORC2 SALL4 LETM1 PNP NDUFS4 HOXA1 SNAP29 RAD51C COL4A6 WHRN NOTCH3 DNAAF3 EFTUD2 SNAI2 HNF4A BCOR IFT172 MYD88 PDE6D NDUFA13 DAB1 NPM1 CDH11 NRL NDUFA2 EPS15L1 BBS4 NAGLU CFAP221 PRPS1 MLXIPL COL13A1 USP45 GJB2 TRNK AP1S1 RECQL4 COL11A2 ADK CABP2 CD164 POGZ ARX ALX1 EBP BAZ1B PRPS1 FRG1 MAX PRDM16 PEX1 CHRNG SLC29A3 NDUFV2 HGF GATA3 NDUFS8 CPLX1 IARS1 WDPCP PMP22 KRAS USH1G SPTLC1 NOP10 SDHB RET SDHA ALG11 MBTPS2 SYT2 EDNRB IFT140 TWIST2 POGZ RAB39B MAP3K7 MSX1 HOXA11 MYH6 NIPBL SBF2 CISD2 SMAD4 MECP2 WDR11 NDUFA1 PCDH15 MPZL2 CDT1 FGF9 GTF2IRD1 HOMER2 CREBBP MYO7A MPZ PEX19 GP1BA PEX1 SPATA5 PHYH CCDC65 NDUFS7 MID2 AARS1 GJB2 EPG5 PYCR2 RP1 PORCN ERCC4 PYCR2 CXORF56 SOX11 COL2A1 PEX1 KYNU PDZD7 GATA1 TCTN3 KCNJ10 GAS8 TWNK MITF IARS2 SIX6 CHD7 BRAF PEX11B NEU1 PAX3 RAB3GAP2 TSR2 TRNL1 SERPINB6 EXT1 TP63 CCDC50 TINF2 DSE GBA ZBTB20 TOP3A NEFL CHD7 TACO1 ACTN2 DPH1 GLIS3 RUNX2 ACVR1 LRP5 COL11A1 CHST14 DNAH5 CTSA TRNK TBX1 FLNB NR2F1 PEX11B ND1 DNAH1 RHO NFIX SETD2 PEX2 COL1A2 HS6ST1 RDX MTHFD1 COX2 FASTKD2 HSPD1 EYA1 GCH1 FGFR3 COL9A1 POLR1C PAX3 GJB2 USH2A RPE65 KARS1 FGF3 GLYCTK ND1 SLC7A14 EDNRB VHL CATSPER2 PLA2G6 GJB1 FLNA UBE2A NDUFB8 MAF ESPN COX7B NSD1 DLX6 LDB3 TRNK TBL1XR1 CCBE1 ACSL4 PSEN2 DNMT1 TTR POLD1 DDX3X MITF SMC3 NEK1 FGFR1 COL2A1 PEX7 PDGFRB TRNS2 FBN1 ERCC3 POLG2 SCAPER SEC24C RAF1 ACTC1 ADCY1 B3GLCT ADAMTS3 ERCC6 NDRG1 TRRAP KCNH1 BMP2 FANCC ZNF469 TNFSF11 SDHA SDHB BBIP1 TACR3 TNFRSF11A CLIC5 VPS11 RFC1 NDUFA12 TBCK SNX10 GATAD1 FHL2 NDUFV2 MTRR ERCC4 LHFPL5 LRP2 KIF7 BCS1L DRC1 SDHD PDZD7 SDCCAG8 PDZD7 PTPN11 PEX5 CDH23 MAP2K1 GJB3 PIEZO2 PDE6G FIG4 TNC LAMA4 DVL3 ELN TFAP2A PTEN FOXI1 FGFR3 NDUFAF6 GSDME PROM1 PSMD12 SEMA4A PEX10 SMCHD1 SNAP25 MEGF8 TRNS1 HGSNAT SALL4 FGF17 TELO2 TTC25 MFN2 PEX26 DCC COL9A2 REEP6 MARS2 RREB1 TWNK SLC19A3 GPC4 FANCC ROBO3 PGM3 SMPX CARS2 SLC33A1 KLLN DDX3X NSDHL RAI1 PRDM5 AMMECR1 COL2A1 SERAC1 GFER ABHD5 SOX9 GP1BB NOP56 FARS2 NDUFAF1 PCDH15 NRTN COG5 FRMPD4 MYO3A TWNK ND6 GJC2 FOXE3 UBR1 PRTN3 DVL1 RECQL4 SALL4 GNRHR PIGL GNRH1 FGFR2 STUB1 AIPL1 CHAT CD109 ZNF81 TRNI FRAS1 SRP72 OFD1 TRNF MYO6 COL1A1 NDUFA6 DNAJC19 DHODH TECTA MITF CHD7 RSPH4A PRDM16 L2HGDH STAT3 PEX6 CRYAB LRAT CNTNAP2 COL10A1 SKI OSTM1 DHODH LRP5 KDM6A FRG1 KCNJ10 ATRX SCO2 KIF5A PEX2 FGFR2 MYSM1 DNAI2 ND4 SLC29A3 KIF1B ZMPSTE24 COL11A2 VHL EPRS1 CHRNG KITLG SC5D GRXCR1 PEX16 RERE UBB NDUFS4 SPIDR SUCLG1 RPGR SLC17A8 INTU GSN FANCL PDX1 PEX14 ATRX FUCA1 WFS1 MYCN ELMO2 PGAP2 NSD2 NDUFS6 TTN WHRN CHSY1 RAP1A GJB2 RNF13 WDR11 CLIP2 ERCC8 GBA2 COLEC10 DARS2 ANOS1 OPA3 MEOX1 GNAS ATP2B2 FANCI GNS NDUFB11 CEP290 PNPT1 MSRB3 TIMMDC1 TMEM127 SNAI2 PROKR2 MAP3K7 SGSH MED13L POLG GTF2E2 RFT1 NLRP3 TCF12 NFIX NOTCH2 USB1 COL2A1 IDUA ST3GAL5 KISS1R AP1S2 PEX7 ADGRV1 CLCN7 NAGA NEU1 TYR TRNQ FLNA MCM2 NTNG1 PJVK BCOR USH1C ROR2 RUNX2 BCOR TARS1 ATN1 RET OFD1 PIGV CPLANE1 PEX6 AMMECR1 ANOS1 TRIM32 SDHAF2 LRP12 POLG SLC26A4 TNNI3 MYBPC3 ATP6V0A4 SDHA TPM1 USP9X FANCD2 ACY1 NOG TCIRG1 GMPPA CPLANE1 BRCA2 SEMA3A DCC TRNE TPRKB SDHC FDXR PRKAR1A TRNW PPP1CB PEX6 RPL11 LRAT SCN1A BCS1L FTO ARID1B APC2 MYPN RSPH9 TRNH MET TPM2 ERCC1 PRPS1 COLEC10 PEX3 PDE6A CLCNKA ZIC1 DDX11 NLRC4 COCH NUP107 TBX1 GDF6 ATP6 TFAP2A CATSPER2 HCCS DSPP FLNB GZF1 SGCD TTC8 PEX13 NUBPL TCTN3 REST SEMA3C NLRP3 ITM2B TIMM8A AHI1 PCDH15 LRP4 ERF ATP6V1B1 SOST COL4A3 VPS13B BBS5 CDC14A PEX13 CTC1 CERT1 LIPT1 VAC14 GAS8 SUFU PEX16 COL1A1 MANBA SOX3 USH1C TRPV3 RPS6KA3 CRKL GABBR2 SURF1 FREM2 VCP USH1C BTD POLG ARSA ESRRB FOXC1 C8ORF37 COL11A1 ARID1B TARDBP PEX5 DKK1 CHSY1 IGBP1 PEX13 DNAAF2 AMMECR1 ARHGAP29 PEX6 CCDC141 ACOX1 GPC4 AIFM1 MAK FEZF1 SOX10 XRCC4 SKI IDUA LRRC56 ERCC6 ATP1A3 BUB1 BBS2 TMC1 PLAA SDHD DVL1 RP9 CNTNAP1 ORC1 COG7 THOC6 UFM1 TRNL1 SLC26A4 HYDIN WFS1 NELFA SURF1 MYH3 GPC4 TINF2 BEAN1 EXOSC8 PDK3 TWIST1 AMER1 COX10 GRHL3 HDAC8 MYH14 PEX2 TTC19 LRP5 KISS1R KMT2A ATP6V1B2 CSPP1 SLC5A7 ACO2 ERCC5 DCHS1 NDE1 RFT1 LZTR1 DVL3 CERS3 TNFRSF11A SLC52A3 PTEN UFD1 RNF135 RNASET2 MARS2 B3GLCT FGFRL1 TGM1 ITGA2B YAP1 MYO6 CREB3L1 DGUOK IDH3B TNNT2 PPIP5K2 FGFR3 NDUFB11 JMJD1C RAF1 PALB2 FAT4 MBTPS2 ND3 C9ORF72 STAG2 WNT5A YME1L1 PTPN22 PRPS1 DES RMND1 NSD1 RPGR TP63 NDUFS2 RTTN TMIE FAS ARSB RAD51 CAT CTNNB1 MITF COX2 PIGL COL11A2 PEX19 PRCD SIX1 PORCN SEMA3E PROKR2 CACNA1D PCARE HYMAI TRNH ILDR1 BCAP31 FGF8 COL1A2 IRF6 SLC25A4 SMARCB1 ZNF513 ASPA CCND1 GJA1 HOXB1 TULP1 SLC52A2 CCDC151 MRAS SPECC1L ERCC4 PUS7 GDNF TCIRG1 HACE1 EYA1 SPATA5 NRAS NDUFAF4 TRNL1 BTD FGFR2 BTK LEMD3 GMNN SYP ND2 RPS6KA3 RAC1 CLRN1 IMPDH1 PRPS1 CDH1 RNR1 MYO7A NEBL NLRP12 MGP MED12 EDN1 PDE6B TRMU RNF113A GUCY2D FAT4 ZNF41 ALX3 LRP4 TWIST1 PAX3 RPGR NOG DNAL1 FGFR3 NDP BRAF ATRX BTK KCNJ13 ABCC8 SUMF1 PITX2 RGR MRPS2 PEX14 COL2A1 ACTG1 PEX11B SALL4 CDH1 COL11A2 NOG LMNB1 ERCC5 WAC DNAAF3 PSAP COX10 DNAJC21 ABCC8 STAC3 SMARCE1 PLN LMX1B MORC2 NDUFAF2 SIX1 PAX3 ATP6V1B2 NDUFB9 DOLK FOXRED1 NECTIN1 BEAN1 RP2 CACNA1A WRAP53 SLC4A11 TMPRSS3 ATP6AP1 MANBA STXBP1 TMEM216 SLC25A24 RFC2 ERCC3 PUF60 FGFR1 GDF5 IDS ND6 MASP1 DNAJC3 FOXC1 LARS2 NOG CCDC40 PET100 WFS1 EP300 NLRC4 PEX3 COX15 DSG2 OTOF ARSL TRNL1 TRNW TBX22 PHOX2B MICOS13 PNPLA2 NAGA SC5D PIK3R1 SOST HACE1 TNFRSF11B AIFM1 SUMF1 PNPLA1 CLPP NECTIN1 PLAGL1 POMGNT1 KCNAB2 CHD7 POLG PEX16 SF3B4 ARID1B ABCA12 FGFR2 FSHR NLRP3 LZTFL1 WFS1 COLEC11 INS SHANK3 PERP IMPG2 GJA1 GATA3 RBP3 PROKR2 ADPRS ATP8 TAF1 TOPORS DNM1L GJB3 DNAJC3 OFD1 NDUFS3 COL9A2 MAP3K20 GJB2 EXOSC2 TKT GDF6 TWNK ACTB APC EYA4 CTNND1 ESPN DUSP6 RAI1 AFF4 GJC2 LIG4 SURF1 GDF3 KCNH1 SHANK3 BBS1 PAX3 ATP1A3 PSAP EFTUD2 POLR1D TRMU BRIP1 NIPBL NR2E3 ANKRD1 PCGF2 PEX10 TMEM126B EYA4 KLHL7 ARHGDIA BRAF DHCR7 BUB1B RSPH1 CNKSR2 CNGB1 TNFRSF11B ERCC2 TMC1 EHMT1 AGBL5 TAF1 CCDC114 GBA2 CEP78 RDH5 CRB1 EDNRB PTPN22 CA4 TRNK DLX5 VPS37A GALNS OFD1 CLCN4 ABHD5 EYS LARS1 CFAP300 EHMT1 MSTO1 OTOG NARS2 COQ8A MYO9A ORC6 MKS1 PRRX1 FLII NOP56 NSMF MGAT2 RTEL1 POLG DLG3 MYO15A CCDC28B FOXJ1 DDB2 CEP290 SLC39A14 IFT27 PLP1 TRNV PIK3CA GJB2 NF2 RBM8A NDUFB10 NDUFAF5 SMAD4 ZNF408 MCTP2 SNX14 PEX11B RBM20 COA8 GMNN CDHR1 BSND NIPAL4 HSD17B4 HARS2 CHST3 ORC4 DMXL2 GJB6 ARVCF FTSJ1 COX3 AAAS TFAP2B ASPM BTRC GDF5 PCLO MPDZ TYMP TCF12 TBX15 IARS2 NDUFA4 FH CIB2 COL11A2 GRAP CBL WHRN ABCB6 PEX26 COL4A3 LRTOMT TRNS2 HDAC4 FANCG PDE4D PNPLA8 KLHL7 EDC3 FGFR2 EDNRB DIAPH1 FLCN RRM2B COL1A1 SNRNP200 BMP4 CRX PEX5 FANCB FKBP14 KAT6B ECHS1 SLC52A3 TRNS1 DCHS1 DMD FGF3 ECE1 HCCS SMARCA4 PTH1R APC SDHD FGFR2 SALL1 KAT6B IMPDH1 MRAS NDUFB3 SALL1 PNPT1 HUWE1 MECP2 MITF FGFR3 CHCHD10 TRNL1 TBX22 KCNC3 MYH3 PEX12 SNAI2 CRYM GLI3 MED12 TRNK A2ML1

Protein Mutations 14

A313G A7445C A7445G C677T E384G G20210A G7444A G951A I105V L236P M34T T416P T961C T961G

SNP 2

rs12201199 rs9332377