SNPMiner Trials by Shray Alag


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Report for Mutation E384G

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Utility of Genetic Testing in Detection of Late-Onset Hearing Loss

Two major limitations of existing audiometric newborn hearing screening programs are their inability to detect forms of deafness that are not expressed at birth and the low compliance with obtaining recommended audiologic confirmation and/or follow-up. Molecular genetic tests on blood spots from all newborns will identify those at risk for the most frequent causes of late-onset hearing loss and to add these infants to the group who should receive continued audiologic monitoring.

NCT00511381 Hearing Loss Late-Onset Hearing Loss Deafness Genetic: No intervention
MeSH: Hearing Loss Deafness
HPO: Hearing impairment

sublicense with Athena Diagnostics, Inc: United States Patent Numbers: 5,998,147 and 6,485,908 and patents pending) - Pendred Syndrome - SLC26A mutations - L236P, 1001 +1G>A, T416P, E384G - Mitochondrial Mutations - T961C, T961G, G951A, 961 delT+C(n)Ins, G7444A, A7445G, A7445C. --- L236P --- --- T416P --- --- E384G ---



HPO Nodes


Hearing impairment
Genes 2020
ALG13 LETM1 UBR1 FAT4 TGM1 ESRP1 RNASEH1 TRNS2 ORC1 RHO KCNJ10 RP1 HGF TRNS1 PIGL EYA4 GLI3 CATSPER2 PAX3 NDUFAF4 SDHD LRP4 DNAAF4 NDUFB10 MYH3 FAT4 SLC18A3 EPS8L2 ARL6 RDH12 ARL3 PSAP TXNL4A GJB2 TAC3 GRAP RAB23 ARL2BP ASXL1 PRPF31 PNPLA6 GBA2 POLG IGF1 PTDSS1 MYH14 ERCC5 CCDC50 HIRA SLC19A2 GAS8 SIX1 AIFM1 CEP57 SOST MCTP2 NRXN1 COL11A1 PNPLA8 CLRN1 COL4A6 KCNH1 RAB3GAP2 COL11A1 BUB1B TAF1A OPA1 SEMA3C NECTIN1 MFN2 NEFL LHX1 HLA-DPB1 KAT6B DNAAF1 NDUFS1 PCLO PET100 SF3B4 LAMB1 ARSL PSMD12 NOTCH3 RAI1 YAP1 PIK3C2A PRPS1 TMC1 PRPF8 EYA4 B3GLCT PDZD7 NDUFAF2 CLCN4 SH3TC2 ESRRB SDHC CERT1 GJC2 MRPS22 ECHS1 COL9A3 HSPD1 LONP1 KIT GTF2I CDC45 MID2 TMEM126A IARS2 TMIE COA8 FAM20C RET PRPF6 RPS26 ZNF408 KCNQ1 TRMU ERCC2 PEX1 GABBR2 RECQL4 MED12 BEST1 SLC52A3 ND4 SDHA ND2 DCHS1 POLR1C DPF2 BBS7 ACY1 TRNE EXT1 CLPP FGFR3 CHD7 IGBP1 SRP72 UFM1 BRCA1 ANOS1 LETM1 NDUFB8 WNT10B KCNC3 TRPV4 TMPO GJB2 MAK ARID1B GNAI3 GATA3 MYH6 HARS1 COX15 DAB1 GPC4 ERCC5 MED12 CDH1 DLG1 FAM161A HESX1 LRRC56 RPS23 NEBL NOG DUSP6 NDUFA12 EDN3 MFN2 FGFR3 SEM1 TBL1XR1 SLC52A2 MRAS SMARCC2 GTF2E2 PIGA TGFB1 CNKSR2 GJB2 ATRX TWNK DNAI2 SLC44A4 MTFMT APC AFF4 FLNA TFAP2B ABHD5 SOX10 ALX3 SPATA5 GLA CCDC114 NDUFAF1 TCOF1 KCNJ11 CDC45 STRC TRNK ATP6 RAD51C POGZ HYDIN IL1RAPL1 DNAH11 FRG1 PSEN1 NDUFB3 SON ERCC2 PDE6D PAX3 NSMF FANCD2 LMNA KMT2D GJB6 SOS1 NEXN TBX15 ATRX RFC2 NDUFS3 PIK3CA EDN3 RSPH4A PTH1R TRNQ TRNN IDS MFN2 ALG12 GDF6 FIBP FANCI ATP6V1B2 FGFR3 TNFRSF11A COL11A2 SMCHD1 RLBP1 NSD2 ANKRD1 MAD2L2 EDC3 FGFR2 AGTR2 TRNK ERCC3 SEMA3A ORC4 AHR LHX3 ACTC1 DMP1 FGF3 LARS2 RDH12 CDH23 PEX14 FGF10 FANCA USH1C COL4A4 HLA-DPA1 IL17RD TARDBP ANKRD11 PSMC3IP SLX4 IDUA STAG2 PDZD7 TRNW CLCN7 EPS8 BTD GJB3 SIX5 FLNA ATP6 BBS2 BTD GBA2 TRNE CISD2 LSS DNAAF2 CDH1 KMT2D NF2 PPP2R3C EDNRB BBS2 SOX10 MICOS13 TPRN SLC25A4 PERP NALCN BRAF SLC29A3 ELN TACR3 COL11A1 NDUFV1 CERKL FGFR3 ACSL4 PTPN11 SKI IFT140 FARS2 SHANK3 USH1C DCC VPS13B SDHB SMAD4 MORC2 TWNK DLX5 SNX14 USH1G AKT1 ZNF469 SNAP29 CCDC141 SNAP25 ND3 POLG2 ERCC6 INS PLXND1 NDUFS7 BUB1 TELO2 HGSNAT ST3GAL5 FGFR1 SYP CEP290 PEX12 EIF3F FOXI1 EYA1 GJB6 PIGO SLC25A24 PAX3 SOX10 DMD GJA1 KCNQ4 ITGB3 CRX KLHL7 POLR1C TNNC1 SCN1A ALMS1 AIPL1 FTSJ1 FGFR3 GLB1 PEX5 KDM6A ERCC3 NARS2 PQBP1 BBIP1 CTLA4 MYPN FLRT3 ZBTB20 TRNS1 BRCA2 TWNK AHI1 ANKH FLNA NDUFS3 AGBL5 EDN1 AKT1 MAP3K20 DHX38 CCND1 PBX1 KIF5A TWIST1 DNAAF3 ERCC5 EDNRA TXNRD2 PRRT2 TINF2 CEP250 DNAJC19 MTHFD1 MITF PEX16 ND1 NEDD4L IFT27 SUCLA2 CABP2 TP63 COL9A2 PEX14 BBS1 PEX2 MYH9 PEX1 NKX2-1 GNAS ARID2 RNASET2 ZBTB20 PIK3CA COL1A1 FRAS1 GCH1 KIZ FGFR1 SF3B4 FLII REV3L NFIX SPATA7 SOX2 USP9X TWIST2 FANCC COLEC11 CNTNAP2 TRAPPC11 SOST PROKR2 VPS11 CASK NTNG1 PAX1 PRKAR1A VCL MRPS2 SQSTM1 TRNT1 PLN PMPCB EYA1 MYO6 GJB2 UBE2T GJB6 MCIDAS DNAH9 PEX1 MRAS GTF2H5 ND5 PEX1 BCOR COX15 ND1 GAS2L2 KIF7 ERCC4 WHRN RAI1 NLRP3 FHL2 ANOS1 SGCD IQSEC2 PEX12 DLX6 IDUA ERCC4 COX2 CHSY1 LRP5 MBTPS2 COL2A1 NUBPL KCNN3 PROKR2 TCTN3 ADGRV1 MAP3K7 TRNQ TMEM216 STXBP1 RFC1 PRPF4 FOXE3 EFNB1 ADK USP9X ERCC4 ATP6V1B2 DNAI1 FLNA SHOC2 DNMT1 FDXR NR2E3 SOX4 CASK CREB3L1 KITLG COX3 PRCD ZMYND10 NDUFA11 SIX5 IQCB1 BMP4 PITX2 PORCN SDHB CTSA GJA1 CDKL5 DHDDS GP1BA BCS1L CYP7B1 IFT140 RP2 GDF6 CEP78 PPIP5K2 NDUFS2 PROK2 SERAC1 CNGA1 NDP IQSEC2 NPM1 MAP3K7 MIR96 MYO6 ND5 MPZL2 AMMECR1 TBC1D24 COX20 RUNX2 PRPH2 DCAF17 COG7 FANCI GALC SEC24C DNAAF6 HACE1 ALX1 FUCA1 TWIST1 KIAA1549 SLC9A7 TTC19 GJB3 WFS1 SPEF2 ZNF81 FGFR3 PEX2 NAA10 ASPA NF2 SOX11 TNFRSF11B SLC52A2 PEX14 XPA FGFR3 NLRP3 GNS SNAI2 NEU1 FANCA PEX6 ITGB6 PRDM16 ABCA12 USP45 BBS10 NDUFAF3 NUP107 ERCC2 DMXL2 FANCB GIPC3 TCOF1 GLYCTK RFT1 BCOR BCOR PHEX TACO1 EDNRB MSX1 NOTCH2 NLRP3 GATA2 SEMA3E SLC39A8 NOG AMMECR1 OSTM1 FASTKD2 SIX1 NDUFA6 CARS2 TP63 PEX1 PHOX2B KCNE5 RSPH3 ATP1A3 EBP MASP1 SNAI2 DRC1 CHSY1 PSAP TULP1 WAC TRNL1 PTPN22 USH1C HSD17B4 COX1 LRP5 PEX26 TK2 CNTNAP1 PDE4D FOXC1 SP7 FGFR2 SLC25A1 TRNC STAC3 PRKAR1A GJB2 PCGF2 ACO2 COQ7 NDUFA13 FANCC COL11A1 CLDN14 RFT1 NDUFB9 SLC26A5 TCAP POU4F3 MEGF8 RREB1 SLC26A4 PEPD SOST GFER MITF LONP1 MYO7A HESX1 SIN3A PLAGL1 TIMM8A GJA1 MYT1 SDHA BTK NECTIN1 ALX3 SCO1 GDF3 LRP4 SYT2 RET SUFU LCA5 TSPEAR FRMPD4 FGF3 RRM2B ERCC1 PHYH ATP6AP1 PNPT1 COX10 FGFR2 TMEM126B CDC6 GJB2 COX10 PTPN11 GZF1 KAT6B TSPAN7 RPE65 LMNB1 CPLANE1 SKI PRTN3 PLA2G6 TP63 FLNA MBTPS2 APC APC2 RIT1 ALOXE3 FOXI1 GAS8 BBS9 LDB3 NDUFA1 NSD1 GJB2 HACE1 LOXL3 SMARCA4 NDUFA4 PEX7 TRNW RPL11 FLNB ND6 ZNF41 MPDZ ABCC8 FGFR3 CFAP300 IFT88 TARS1 TRNV ND4 NEK2 TMEM132E NDUFAF3 EDNRB RHO PTPRQ TWIST1 TRNS2 BPTF ARHGDIA TACO1 DLG3 IRX5 SLC33A1 SIX6 SLC19A2 ASCL1 AGRN PEX6 RPGR TBX1 GTF2IRD1 FAS RAI1 SALL4 PEX16 ND6 ARX NDUFS7 POLD1 GATA3 C1QBP NOG MANBA TNNI3 ACTG1 LARS1 TRIOBP EFTUD2 HDAC8 SPIDR BRAF PITX2 MGP TRNV USB1 NAGA BMP4 SOX10 SETD5 GJB2 SLC26A2 FSHR FGF3 PIK3R1 AMER1 RECQL4 MAP3K7 NDUFAF4 FGFR3 HS6ST1 CFAP298 CDHR1 COG5 KDM6A CEACAM16 ROR2 MAP3K7 RPS6KA3 GLIS3 KCNJ13 ABCC9 ROBO3 SIX1 GJB2 ZFP57 ADPRS IDUA FANCE AIFM1 EXOSC2 FANCM MAX PDE1C MYO15A CLIC5 RAF1 SNAP29 KDM6A HNF1B PMP22 PGM3 PDHA1 TRNQ AP1S2 PEX26 ARID1B PSEN2 DNAH5 PRPS1 ARNT2 ARHGEF6 RAC1 NDUFA13 TRNF SMAD4 NDUFB11 RPS6KA3 PEX3 DGUOK DNAAF5 USH1C BRAF FAT4 IFT172 LRP2 TFAP2A CASK SALL4 TRNS1 TNFSF11 STAT3 PTPN22 PRKDC SGPL1 DHDDS GBA2 SDHC RNF13 NSD2 PCDH15 TRNL1 TP63 PDX1 TERC SMCHD1 EFTUD2 VCP TSR2 MARVELD2 ENPP1 CYP7B1 FANCE IDH3B COL4A3 KCNJ10 RTTN CRKL TNFRSF11B GPC4 CPLX1 PAX2 SOX10 ABCA4 NDE1 FBN1 TPM1 COCH STUB1 COL4A5 FOXJ1 NDUFA10 NDUFV1 SLC26A2 KRAS NSD1 BEAN1 SLC35A2 GDNF FRG1 TRNL1 NAGA SMC1A CCDC103 LIPT1 NOG NDUFS8 CRYAB FBN1 CACNA1D DNAJC3 TRNI AHSG LRP4 MYH9 PEX7 KCNJ10 ZNF469 RAD21 COL9A2 GTF2E2 KLHL7 GMPPB CDC42 UBR1 IMPG2 SCO2 MAPK1 CPLANE1 IGBP1 NDUFA9 HOXA1 ANKRD11 TBC1D24 P2RX2 GLI3 DVL1 OFD1 PEX16 KISS1 PEX7 BCAP31 MYH14 POR PCDH15 WHRN ELMOD3 SPTLC1 NOP56 ND3 ST3GAL5 DDB2 GRIP1 HOMER2 BCR NRAS OSBPL2 SLC7A14 KCNAB2 MAN2B1 ARHGEF18 VPS11 DNMT1 COL11A1 FAT4 RNR1 DDX11 ATRX NDUFS4 TERT RBM8A CNGB1 NUS1 IDH3A ARID1B POLR3H PLAA GMPPA ROR1 PTPRQ HNF1B PCARE TP63 OPA1 MBTPS2 BTK PORCN MYH3 MET MITF FRAS1 TTC8 ABCB6 NMNAT1 ATP8B1 GPC4 C8ORF37 ANKH MPZ LRAT SALL1 OPA1 USH1G BEAN1 DOLK SLC25A11 SUCLA2 PAX3 FOXC1 TIMMDC1 NOG COQ2 PDK3 S1PR2 IGF1 GCK AP1S1 KCNE1 COL2A1 HTRA2 OTUD6B MSRB3 NDUFAF5 RSPH1 GJA1 ERCC4 GAB1 SUMF1 AMER1 SALL4 NDUFV2 DNAL1 IRF6 FTO WFS1 BPNT2 RRM2B TRNL1 COX8A EYA1 ERCC6 STAC3 DIAPH1 RBM20 KAT6B GDF5 MANBA TRNF ARSG CEP290 NDUFA9 PEX5 MSTO1 EP300 COL1A2 COX14 RPGRIP1 TECTA PTPN22 PNPLA2 COL2A1 KISS1R CYTB EDN3 CTSA COL11A2 PEX5 AP1B1 PTEN LZTR1 IMPDH1 LEMD3 TMPRSS3 SNRPB ST3GAL5 KCNC3 RPS28 ARVCF CLCN7 ATP6V1B2 POMGNT1 PIGV TMEM127 TTR NDRG1 PEX13 MGP RAF1 SDHA CHST14 PEX12 KCNJ10 JMJD1C ACTB ARHGAP29 ND5 FGF17 SLC5A7 POLG MPZ GFER SLITRK6 SOX2 NARS2 SLC25A4 NRTN SMARCA4 FLNB PEX2 GJB2 BCS1L STRC ACTN2 MPLKIP PROM1 GNAS MAF PRPH2 DUSP6 BCS1L ACTG1 POLG XPNPEP3 ERCC4 RMND1 VHL EXOSC8 FGF9 FANCD2 DES PEX10 XRCC4 ND1 FGFR3 SNX10 LRP5 CHD4 PCYT1A ATP2B2 MAP2K1 PEX10 ILDR1 NDUFAF5 ITGA2B WHCR GJB3 PEX11B SDHD RAI1 MYH3 SLX4 CCDC141 ESPN CDK5RAP2 POLG OTOG TRAF7 SGSH LRRC6 THRB NRL CCDC40 EPS15L1 ABCC8 BMP4 RERE CSRP3 BTK CCBE1 ALDH18A1 CTNNB1 PGM3 MKKS BBS5 FANCL CLCNKA PEX10 ADCY1 COX3 EYA1 RBM10 COL11A2 MASP1 PLCB4 SDHD PCDH15 WRAP53 NOP56 COL2A1 MAFB COX2 SOX9 DIAPH3 NR5A1 CRB1 POLR1D FREM2 RRM2B FMR1 HARS2 ERCC2 GSDME CDH23 ND5 PEX11B POLG TNFRSF11A FOXRED1 FGFR2 MARS2 ERCC3 SLC52A2 CATSPER2 KITLG TWIST1 ERCC6 IFT172 BCOR NLRP3 BMP2 TRNF COQ6 RPGR G6PC3 COL7A1 ACY1 PHYH OTX2 EPG5 SETD2 SOST AK2 RASA2 DNAAF3 MYH3 CCDC151 EDNRB PEX6 PSMD12 POU3F4 PDE6B ASPA NRAS RFWD3 SYNE4 CA4 HYMAI RAF1 NOP10 CDT1 TYMP PMP22 SUMF1 SLC52A3 RAP1A NHP2 GSN PCNT HOXA11 FZD2 ATN1 CRB1 NDUFS4 FGFR3 TWNK CCDC65 NDP PIGL FGFR3 COL11A2 MECP2 SLC39A8 ORC1 GNRH1 PRPS1 PSAP ZIC1 GJB4 DVL3 PRDM5 RPL10 KIF7 CCBE1 COLEC10 EPG5 PEX6 SOX10 MYO7A SLC29A3 ARSA CCDC39 PEX3 GBA NAXD GATAD1 AIFM1 ACTB TMC1 HOXA11 LZTFL1 MYCN ZIC1 FGFRL1 KISS1R POLR1D TRIP13 MYD88 B3GLCT BSND ACVR1 RAP1B CTNNB1 PTEN ELN TSHZ1 FLCN OPA3 PALB2 GMNN SBF2 MKS1 NAGLU PRPF3 HCCS SDHD PUS7 MOGS MITF PNPLA2 HDAC8 SPRY4 POLG GRHL3 HCCS TAF1 NOTCH2 ND6 CLRN1 COG1 KYNU PROKR2 NOTCH3 TOPORS USH2A TRNF TTC25 DLST TRNL1 DDX3X BDP1 ATP8 EPRS1 TYR UFD1 ALG11 TAZ ATP1A3 ECE1 MITF PDK3 TCIRG1 WDPCP ARMC4 SOST CLRN1 KCNJ10 SDHAF2 CHST3 COLEC10 GRXCR1 COL2A1 SOX9 LRP12 OFD1 LRP2 LMNA SMCHD1 PEX13 EYA1 CFAP221 EHMT1 TAF1 CTC1 DMP1 TRRAP EYA1 DGUOK KCNH1 CDH11 SOX2 CIB2 TP63 PPP1CB AAAS CDCA7 SDHC DSPP DCC ASPM CHAT CISD2 PAX3 TTC8 CCNO DCHS1 GJB1 CARS2 TPM2 RAC1 PEX11B RPE65 POU3F4 BMP15 LOXHD1 RSPH9 TFAP2A PRRX1 SLC17A8 FGFR2 COX7B TBK1 ARL6 DIABLO PLOD3 PAX1 DLX5 PEX11B POLG SMARCB1 IRF6 VAC14 ARSG AARS1 TNFRSF11A TANGO2 UBE2A HOXA2 ADGRV1 PAX3 NLRP3 COL4A3 PNPT1 PIGS TRNK ACOX1 GRHL2 ADAMTSL1 XPA TINF2 CEACAM16 IL17RD WFS1 FGF17 HBB MERTK PET100 COL1A1 PDZD7 CXORF56 FKBP14 STAMBP CACNA1A PDE6G RECQL4 ERCC8 SAG RAB39B NOG GUSB HARS1 XPC EBP GSC MYO3A PHF6 RRM2B GATA1 HCFC1 TIMM8A PDE6A MECOM SPAG1 TCF12 TMEM67 NIPBL STRC PGAP2 NFIX TYMP DSG2 RIPOR2 WBP2 FUS FLRT3 DNAH1 NSDHL SNRNP200 SURF1 DHCR7 MECOM PTRH2 MYO9A EYS SLC19A3 CLCNKB PEX19 SURF1 FOXI1 CFAP300 DNMT1 L2HGDH KDSR TRNP RUNX2 FKBP14 SOX10 SMC3 CDC14A RRAS2 BCS1L ITM2B FGFR3 COX6B1 SPRY4 TPRKB LRP5 SNAI2 SARDH SLC25A24 FANCF CERS3 ND2 TRPV3 DKK1 RLBP1 SDHA GJB2 C9ORF72 FGFR1 SURF1 MLXIPL BRAF REST TOP3A CLIP2 RD3 CTBP1 LRTOMT REEP6 LORICRIN UBB GPRASP2 MYH7 PRDM5 COL11A2 SHANK3 PAK3 SCN5A ELAC2 GNRHR NDUFS2 SDCCAG8 HS6ST1 SLC4A11 GMPPA TBL2 ALMS1 PTCHD1 CSPP1 DNAI1 IARS2 GUCA1B PJVK FH FANCG IDUA HSD17B10 SURF1 DNAJC21 MEOX1 ARID2 PEX26 GALNS FXN TBL1Y TRNK TRPS1 PNPLA1 MITF COX1 BCS1L SLC29A3 DLX4 MYBPC3 MED12 OAT GJB2 SEMA3D LMX1A COMT GJC2 CD151 COL1A2 SKI SERPINB6 POLG GPC3 ERCC2 GJB6 SRCAP TRAPPC12 TBX22 TACR3 MGAT2 TWNK SPECC1L DVL3 TRNH PEX10 ARID1A CRX FGFR1 GP1BB COL9A1 CHN1 FGFR3 DMD SIX1 RDX TRNK TRNL1 BBS1 SIX1 HUWE1 WNT5A TUB PEX13 USH2A FLNA KMT2A RAD51 GJB6 NDUFS1 GABRD SMCHD1 GP1BB EYA4 WDR11 CD164 RP9 PDGFRB ARSA KIAA0753 COL10A1 TRNS1 NDUFS4 COCH TRNS1 DCAF17 EDNRB SC5D SDCCAG8 RBP3 MYO7A COL2A1 SLC26A4 RTEL1 VHL NSMF NLRP12 TRNS1 TK2 NPHP1 STK36 BRAF OFD1 CTNND1 XRCC2 FIG4 TP63 INTU IMPDH1 NIPBL VAMP1 PIEZO2 PTPN11 ARSB HAAO VHL DVL1 NDUFS6 PEX19 SOS2 GJA1 ATP6V0A4 SPATA7 LMX1B PLP1 PEX12 RRAS ACVR1 TRNW CHCHD10 CDH23 KYNU GDF6 TIMMDC1 KIF1B TRNP FOXRED1 OTOF ADAMTS3 USP9X PCDH15 DKC1 TUBB3 TNC PRPS1 POGZ ATP6V1B2 NLRC4 NDUFB11 SLC10A7 SMARCE1 PAX2 XYLT2 RPGR CREBBP NDUFAF2 RPS6KA3 AP1S2 PPCS OFD1 TBX22 GPSM2 GUCY2D ERCC6 HOXB1 FGFR1 ANTXR1 DPF2 BAZ1B EHMT1 KRAS COA8 ECHS1 KIF7 PROK2 WFS1 MEOX1 MED12 RGR NXN ERCC3 ERCC2 SYT2 NEU1 SGMS2 RERE DACT1 CHRNG ATRX FGF8 BAG3 SCAPER SPNS2 FGFR2 NME8 CHRNG ATP6V1B1 SMC3 DNAJC3 TCF12 SUCLG1 SALL4 PTPN11 PARN ITGA2 RNF113A ALG11 ARSA PEX7 SQSTM1 MECP2 BTRC FOXG1 CRYM TWNK OTOGL TECTA CEP78 MDH2 TRNK NLRC4 PEX3 TRNH PYCR2 GRXCR2 LHX3 RPL10 GMNN TMEM38B DEAF1 DUX4 BRAF TRMU FUCA1 LRP5 NDUFS2 UPF3B OFD1 VPS37A ABHD5 KARS1 LMX1B TGFB1 TRIM32 ELMO2 ABHD12 ORC6 PEX26 ROM1 BUB3 RRM2B COL11A1 TWIST1 COL25A1 AMMECR1 UGT1A1 NAA10 DNM1L YME1L1 PEX6 LRAT TCTN3 MSX1 WFS1 COLEC11 LIG4 DHODH SRY FEZF1 COL2A1 DNASE1L3 TP63 CAP2 FAM149B1 DUSP6 WDR11 FLNA MARS2 DARS2 HGSNAT PRPS1 SETBP1 COL2A1 TTN SOST TUBB4A USP27X DMXL2 HNF4A TBX4 EDN1 BBS12 CHD7 FIG4 NIPAL4 USH2A KCNJ11 MYO7A GUCY2D SLC4A11 DHODH PEX13 TK2 C8ORF37 NDUFA2 GAA TWIST2 FGFR2 OTUD6B IFRD1 SLC39A14 ACTB TRNS2 ERF TNNT2 LMNB2 SMPX MYH9 GDI1 PEX1 FKTN FGFR2 PRDM16 SEMA4A PIEZO1 PDZD7 DDX3X PPP1R15B RET ABCD1 HDAC4 A2ML1 CHD7 MYO7A NDUFAF6 PEX2 NAGA NSUN2 ZNF513 SMARCB1 TRNS2 MFN2 NELFA COL27A1 RNF135 NDUFV2 COL2A1 RDH5 COL9A1 CHCHD10 SIN3A LIMK1 GALE PEX1 FGFR2 CCDC28B OTOA DNAH1 SC5D DHCR7 TULP1 WHRN CHD7 ND1 ACOX1 KCNQ1 PROKR2 FLNB PEX16 ZIC1 OPA1 CD109 TBX1 ZNF711 COL1A1 CNOT1 COQ8A FGF8 SNRPB NEK1 LAMA4 SLC26A4 ATP1A2 ALOX12B PIK3R1 TRNL1 NOTCH3 SPRY4 KLLN COL13A1 PEX6 ZMPSTE24 SEC23B POMK CIB2 SQSTM1 COL11A2 BCAP31 COX7B SEMA3E PRPS1 GDF5 PEX19 SALL1 CHD7 BRIP1 TCIRG1 NDUFB11 BBS4 MCM2 SOX3 TBC1D24 TWIST2 SDHB MSTO1 CEP57 LHFPL5 DNAJB13 PNPT1 PRPS1 ACSL4 TBX1 GJB1 FSCN2 KCNE1 NDUFS8 IARS1 DCDC2