SNPMiner Trials by Shray Alag

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R263Q (1) T599I (1) K103M (1) S680N (1) K1270A (1) R88Q (1) T224M (1) A5147S (1) P46L (1) N700D (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) T81C (1) C316N (1) R1070Q (1) T1304M (1) I167V (1) I82A (1) Q54H (1) D13H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) L106V (1) A222V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) P392L (1) C1895T (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


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
Conditions
  1. Hearing Loss
  2. Late-Onset Hearing Loss
  3. Deafness
Interventions
  1. 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


HP:0000365: Hearing impairment
Genes 2225
NR2E3 SMARCA4 ND4 GRHL3 GJB2 RSPH4A EDNRB NDUFS6 GUCY2D NLRP3 PGM3 PEX1 SLC17A8 STRC SYT2 CTNNB1 LHFPL5 NR2F1 GJB1 COL2A1 GP1BB COL2A1 BCS1L HS6ST1 MARS2 FANCC RET SEC24C PROM1 SUCLA2 TRNL1 RIPOR2 DKK1 NELFA CIB2 CHN1 ELAC2 PEX11B PEX11B OFD1 CCDC141 NSD2 CYTB IFRD1 PCYT1A ARSL TRIP13 PTH1R FTSJ1 ERCC1 SOX10 FEZF1 KCNH1 FGF3 FOXH1 PERP BTD GTF2E2 PEX10 LDB3 RAD51 ERCC4 POLG DVL3 AHDC1 SEC31A CRYAB HOXA11 RHO SMCHD1 USH2A FGFR3 SIN3A SCN5A NSD1 OTOA FANCL NDUFA1 PRPS1 NAGLU GUSB MSTO1 RET SDHB VCP PGAP2 TRNS1 LZTFL1 PAX7 DSG2 MAN2B1 ARSA BCS1L TIMM8A BRAF MECOM FLNA PROK2 TRNP PUF60 COL4A5 ELMOD3 TP63 SUCLA2 PAX3 SEMA3E TKT PNPLA1 SIX1 GDF6 ATRX FGFR2 LRRC56 LETM1 RPS28 POMGNT1 FKBP14 WDPCP PTDSS1 GJB2 SOS1 FAM149B1 PEX19 ANKH TRNI FGFR3 GATB PEX3 OPA1 MORC2 PEX13 SBDS DVL1 RERE EYA1 KLLN ARNT2 FANCM KIF7 PEX19 MYCN UBR1 IARS1 GJA1 FTO GLI2 DNAJB13 TBX15 COL1A1 CPLANE1 ANKRD11 SURF1 SIX6 RRM2B TACO1 TRNK ZFP57 EDNRB DMXL2 GNPTAB SALL4 DGUOK FANCG KCNJ10 COL11A1 ATN1 MKS1 ND5 EYA4 PIGO MERTK FGFR3 PEX13 RFT1 CDON KCNQ1 PRPF6 PLCB4 ATP6V0A4 RAF1 SIX3 SERAC1 COL1A1 RPGR MITF GALC S1PR2 GLI3 RAI1 TRNV USH1G PEX14 DNAAF4 RAB23 FAT4 NDUFA6 ZIC2 KMT2E TNFRSF11A TRNK PLS1 STRC FGF8 RAF1 POLR1D POU4F3 SHH TPM1 XYLT2 SOST MIR96 SON RET RRM2B FHL2 NODAL COL11A1 LRP12 SKI HAAO BUB1B EIF3F ADAMTSL1 USH1C SMC1A MTFMT CLRN1 GAS1 STAC3 PRTN3 TRNF TWIST1 HTRA2 PAX3 NDUFB11 COL2A1 DYRK1A BCOR FLCN CHRNG DPF2 STRC KRAS COL11A2 CLRN1 MYH6 POLG TPRN DNAJC21 DKC1 DUX4 GMNN PCDH15 ALX1 CHCHD10 ROR2 CYP7B1 NDUFV2 IDH3B EXOSC2 TRNL1 RPL10 NECTIN1 COX1 FRMPD4 NALCN MFN2 NRTN COL13A1 PEX7 ACSL4 BUB3 GJA1 GAS8 LIG4 NTNG1 MET PAX2 CCDC40 GJB2 WFS1 ALG11 ARL3 RDX HOXA1 HAND2 PLOD3 EDN1 NF2 PRRX1 COL11A1 COA3 SDHAF2 SDHD MITF PRPF3 RDH12 AIFM1 BBIP1 FBN1 GJB2 NRXN1 TULP1 CTSA MPZL2 POU3F4 CEP78 PQBP1 NDUFS7 IDUA TRNL1 MCM2 EDNRB XPA OFD1 SETD5 DRC1 COX7B PEX12 SCAPER SUFU DNAH5 GJB6 COCH TNNC1 MAN2B1 FXN TRMT10A ACTL6A BMP4 CEP290 POLR3H FANCD2 SIX1 HCCS SMARCB1 UPF3B SLC33A1 TRNQ RRM2B TRIM32 MYH14 RFC2 ABHD5 PRCD MEOX1 TDGF1 CEACAM16 SEMA3C SGSH SLC7A14 RAB3GAP2 SOX9 TANGO2 USP7 TRNS1 PHEX CTSA SEMA3E PJVK SHANK3 SLC35A2 GNRHR CCNO ZNF711 HK1 EDC3 BMP15 ADPRS NLRP3 SOX2 PEX19 PEX12 CDK8 ABHD12 TMEM127 FGF3 INS FAM20C GJC2 PEX14 NDUFAF4 CDH23 COL1A1 AFF4 FIG4 VHL TBL1XR1 CTNND1 FOXH1 NDUFAF5 SLC25A11 FARS2 COL11A1 CBL ND1 NAXD NDUFS4 MYD88 NPM1 PTEN FGF10 PHOX2B DMXL2 ACY1 PNPT1 RRAS SOX3 XPA ACTG1 REV3L SP7 WAC CDH23 NDUFB8 SDHA FGFR2 FGF17 FANCC TRNW CARS2 WFS1 COA8 DHCR7 PEX1 PEX12 BDP1 VCL MYO7A ARSB PROK2 CLCNKB AGBL5 GJB2 BPTF COX10 TPM2 HSPD1 GAS1 NDUFS1 GALC ERCC5 MYH9 WBP2 RERE TRNV TARDBP FAT4 DNAI2 AKT1 MRPS2 FAM149B1 RPE65 DEAF1 NDUFAF8 PEX2 TRNF PIGL CEACAM16 PEX12 PTPN11 ITGA2B DLST TAF1 FLNA SQSTM1 PMP22 PDE4D GRIP1 TGIF1 CLCN7 COQ6 OTOGL SMC3 RPS6KA3 NOP56 EYA1 TRMU PROKR2 APC2 ARHGDIA TCTN3 SMARCC2 FGFR1 TBL1Y PET100 TGM1 TDGF1 KCNJ11 CERKL PEX6 RPS26 TRNW GLYCTK TSHZ1 CERT1 DVL1 TGIF1 RHO EHMT1 TRNK COL9A2 IGF1 CNOT1 TCIRG1 SDHB TMEM67 SF3B4 UBE2A ATP6AP1 RPGRIP1 PDGFRB FGFR2 MEOX1 FAT4 ARL6 ZIC1 IDUA CACNA1A BCS1L SRY EPAS1 TANGO2 PHYH CEP290 SDHB WNT5A CISD2 OFD1 USB1 PRPS1 RSPH1 SOST TINF2 FGFR1 SVBP PCDH15 COL2A1 MITF EYA1 DLL1 MPZ NXN TNFRSF11A CEP57 GP1BB DNAH1 SALL4 SEMA3D TBX22 TRNS2 KDM6A PEX1 PTPN22 TMEM132E NUP107 WFS1 GLIS3 POGZ TRNL1 SOST PEX11B NOTCH2 NODAL SMPX DNAH9 ANKRD11 SDCCAG8 ATP2B2 RAB39B COX10 PRPF4 SMCHD1 RP2 WDR11 TWIST2 SMARCB1 COL11A1 SERPINB6 REST BCOR TOPORS TYMP ARL2BP MLXIPL ADK FGF9 PCLO PEX5 EDNRA EYA4 CPLX1 ODAD4 DMD DPF2 BBS2 KCNJ10 TP63 RLIM ERCC8 SOST FGFR3 SNAI2 TFAP2B HOXA2 DISP1 PEX13 GAS1 GPC3 PRPS1 TCTN3 SIX5 SLC29A3 SPIDR TCF20 UFD1 TNFSF11 FREM2 GSDME ERCC2 DLL1 TUBB4A TP63 CCDC65 ARID1A NDUFA11 PMPCB ORC6 NFIX EDN3 SDHC DHODH CDON SLC52A2 ALX3 MED12 CCBE1 TWIST2 USP9X TELO2 LRP2 PBX1 SOX9 RPGR PIK3C2A SCO1 REEP6 SPECC1L BTK CDC14A DCC APC ACTB BRAF VAMP1 SAG SDCCAG8 DHDDS FANCE CATSPER2 RAD21 LMNB2 ECHS1 NAGA ARL6 GLI2 ALMS1 FANCI PDZD7 PEX26 FMR1 FGF3 DISP1 PRDM16 DNAAF5 FLRT3 POLG FGFR2 FGF8 PSAP AP1S1 SMARCE1 CHST14 BCR COL2A1 WDFY3 SRCAP PRPS1 LHX3 ARSG TRNS2 TK2 FGFR3 PIGB NIPBL OPA1 PRRT2 MRAS DDX3X TULP1 CLCN7 TWIST1 TOP3A TK2 RNF135 SYP ND3 GNAS ND1 ZEB2 LETM1 GJB2 USP9X MYO6 KRAS STAC3 GBA2 CSPP1 MAFB BMP4 FIBP PEX3 CRYM TBCK ZNF469 EYA4 COX6B1 PLAA COX1 LMNA RAI1 PPIP5K2 KITLG NME8 MSRB3 PEX1 GUCA1B COL2A1 SLC26A2 DGUOK MORC2 RERE ALMS1 HDAC8 ALDH18A1 ERCC6 TWNK OPA3 TRNK KIAA1549 ARID1B SOST DOCK3 SUMF1 PROKR2 SNAI2 CCBE1 USH1G SURF1 PIK3CA BBS5 ADGRV1 CPLANE1 STAG2 PEX6 SOX10 PEX6 DDR2 LRAT FGFR2 SEC23B GJC2 TRNP MKKS SLC39A8 ASAH1 HYMAI FOXC1 MYSM1 IRX5 PLA2G6 BTK HSD17B10 CD151 SOST TBC1D24 RPS6KA3 CNOT3 NDUFA12 SDHD ABCC8 TMEM216 PRPH2 NR5A1 CDON ZMPSTE24 BRAF NDUFA4 TMEM126A TCAP ALG12 GUCY2D KMT2D TWNK SLC39A14 DHDDS NUS1 PEX11B CTNNB1 EPS8L2 NOTCH3 SLC25A1 USP45 USH2A ERCC4 GPC4 BPNT2 HLA-DPA1 CHD7 RSPH3 SURF1 CNGA1 PEX16 COL9A1 NDUFA2 EPRS1 COX7B ND3 SMC1A PEX1 CIB2 TRNN PSAP DNAJC21 COG7 C9ORF72 ANOS1 SH3TC2 BSND USP9X TRNK COL9A3 ASCL1 NDUFAF6 SIX1 GJB3 FKBP14 PPP1R15B NIPAL4 FGF8 EFNB1 POLR1C TCIRG1 DDX11 FGFR3 SETD2 PNPLA2 ATP6V1B2 ARHGEF18 AMER1 NDUFS1 KIAA0753 TRMU ARVCF ERCC5 GCH1 IQSEC2 PEX16 C8ORF37 RECQL4 CRB1 POGZ DLX5 DNMT1 NDUFS2 FUS EHMT1 CCDC50 KLHL7 FH RECQL4 PIK3R1 FGFR1 ESRRB NDUFS8 LARS1 MYH9 SGMS2 FUCA1 NDUFS2 WHCR PLXND1 SMCHD1 ATP8B1 MAP3K7 FGFR2 FGF17 LHX3 NOG CCDC103 PEX26 GATA2 TRNQ TMEM38B EXT1 ERCC5 TIMMDC1 MBTPS2 OFD1 DOLK MRPS28 FAM161A FLNB ANOS1 RUNX2 DNAH11 PRPS1 DLG3 NSMF KDM6A UBB KDSR RPS6KA3 MTHFD1 POLD1 KIZ DARS2 EDN3 DNAI1 EPS15L1 TSR2 ERCC2 GPSM2 SNRPB COX3 FZD2 MYO3A GJB1 SNAI2 QRSL1 ORC4 SLC26A2 ECHS1 PEX13 MCTP2 CLCNKA PIK3C2A FGF8 SPRY4 COX8A EYA1 DNAJC19 EP300 KCNE5 EFTUD2 LRP5 NDUFB11 TRAPPC4 DNMT1 KIT TCF12 ABCC1 PDE6D DLX5 IMPG2 AP1S2 GRM7 HACE1 NOG TDGF1 SOX11 IARS2 MAP3K7 EBP COL4A4 ERCC6 IL17RD SLITRK6 AMER1 ERAL1 COX2 GJB3 SDHC CREBBP RIT1 CRB1 PRKAR1A PEX3 RFC1 SF3B4 ATP6V1B2 SLC29A3 HNF4A SLC19A3 PDZD7 MPDZ TGIF1 NOG SMAD4 RNR1 BBS1 GTF2IRD1 L2HGDH NEDD4L KLHL7 SLC5A7 MAX PDX1 MYH3 DLX6 ADAT3 CDC45 SMC3 RAC1 THRB SLC29A3 GATA3 TCOF1 ALOX12B SPOP PEX1 ALG11 DCAF17 AGTR2 KDM6A MAD2L2 DUSP6 SPRY4 TACO1 ALG13 CACNA1D EP300 PDE1C RFWD3 FANCE HGSNAT AIFM1 CCND1 ERCC8 LRRC6 TRNC PORCN COG5 ERCC6 GJB3 NOP56 MED12 FANCA DNAI1 IDH3A CDH23 PEX16 CTBP1 SDHD ANTXR1 BRCA2 COL4A3 TBX1 BTRC BBS4 ERCC1 ABCB6 DCHS1 IFT88 ARHGAP29 NDUFA13 PRKAR1A CHD7 ELN A2ML1 PRPF8 SLC9A7 SETBP1 STAMBP LRP4 FLNA NKX2-1 IMPDH1 TRAPPC11 LMX1B GMPPB DDX3X SALL4 RRM2B RNF113A MAF ESPN HOXB1 NEBL TBL2 MED12 SPTLC1 VPS11 LONP1 PEX10 ZNF81 NECTIN1 GLB1 GTF2H5 SBF2 PRDM16 IDS DUSP6 TRNS1 GBA COL9A1 TRNS1 DISP1 TRNE CDC45 DMP1 SNX10 LAMA4 GALE NDUFA10 PROKR2 PEX5 DCC SEM1 WHRN SHANK3 TRAF7 LIMK1 CNKSR2 POLG FGFR1 SOX10 ERCC6 USP27X PNPT1 FGFR3 SOS2 COX15 GBA2 FGFR3 MANBA FANCI LEMD3 SALL1 WDR37 TARS1 DNAAF2 NOTCH2 TGFB1 NSD2 DNAAF3 TRNE BMP4 EYA1 ATP1A3 LORICRIN PIGA GRXCR2 ZBTB20 HLA-DPB1 ATP6V1B1 WFS1 TP63 CFAP300 LZTR1 MFN2 SLC25A24 SOX2 ACTB RPS23 DNAAF6 GJB6 HARS1 KCNC3 ORC1 CHCHD10 HGF LRP2 PCDH15 COL11A2 FBXW11 NLRP3 PDE6A SPATA5 COL11A2 TUBB3 BTD ANKH SNX14 SDHC ERCC6 CTLA4 CXORF56 VPS11 NDUFAF4 FOXH1 CAT RLBP1 GZF1 NAGA THOC6 PET100 ACTG1 P2RX2 TRNQ PTPN11 COL1A2 SLC26A4 PITX2 SCN1A EPG5 HOMER2 TCOF1 GAS1 ERCC4 BCS1L PLN STAG2 COL11A1 BCOR TRNH PTPN22 DNMT3A HGSNAT ERCC3 IDUA HSD17B4 UFM1 TWIST1 RNF13 NODAL GATA1 TTC8 HESX1 KMT2A RAC1 ERCC4 DISP1 CSRP3 WRAP53 PSMC3IP AHSG RBM10 NDUFV1 PEX1 GATA3 AP1B1 ARID2 ST3GAL5 VHL FGFR3 SMAD4 ROM1 PLP1 CARS2 COX14 KISS1R TDGF1 PPP2R3C KIF7 GDI1 NDUFA13 SELENOI RP1 FGF8 CCDC39 BRAF NEU1 COQ2 POU3F4 NOP10 PAX3 PSAP FLNA SNAP29 ERCC2 ESRP1 SLX4 GJB4 ITGB3 MDH2 CA4 HARS1 NIPBL ITGA2 POMK RP9 SRPX2 ACO2 BBS2 PITX2 PHF6 ACOX1 DES RPL10 ZBTB20 WDR11 MTRR PGM3 KCNQ1 MYO7A OTOF WAC STAG2 PSMD12 TP63 NF1 ITGB6 CEP250 NOG GJB2 VPS37A MAP3K20 CHD7 NARS2 TIMMDC1 BCS1L DIAPH1 LONP1 SC5D STK36 OFD1 PALB2 GJB2 SURF1 DLX4 SDHD SIX5 TFAP2A HNF1B PEX6 ZMYND10 RRM2B PEX2 TIMM8A ZIC2 SNRNP200 SC5D PTEN TBX22 PRMT7 WHRN MEGF8 FGFR2 EFL1 ECE1 KCNC3 PIK3R1 TSPEAR KCNJ10 TTC8 BEAN1 ZIC1 FLNB NDUFAF3 PEX16 PCNT DIAPH3 TMIE BBS10 KYNU HNF1B COG5 SRP72 SOX10 FANCB GRXCR1 WHRN ATP6V1B2 DMP1 DNM1L ENPP1 CATSPER2 DNAH1 KCNJ10 AKT1 PRPH2 ILDR1 CLIC5 TRAPPC4 PTCH1 GPC4 COL1A2 GLI2 MCIDAS EDN1 LRP4 MYO7A NSUN2 TRRAP GATAD1 COLEC10 CHST14 MGP PAX3 CFAP300 SLC25A4 DHODH LRP4 DHCR7 ZMIZ1 FDXR DMXL2 XPC CHD4 DPH1 FRG1 KCNJ10 AK2 MRAS CHAT MASP1 MAN2B1 LMX1A MYCN SMCHD1 PHYH CDC42 TUB TASP1 SLC18A3 CEP78 LCA5 GJA1 NDUFB3 PDZD7 NEK2 GLI3 NLRP12 RTTN ADCY1 PIEZO2 USH2A PEX10 TP63 TRNS2 IFT27 SPEF2 RREB1 COL2A1 ABCA4 SLC10A7 CEP57 LRAT RAD51C FUCA1 CDCA7 TBX1 PIGT RNASEH1 DIABLO CASK NRAS CDH11 ZNF408 MYO6 ATP6V1B2 PTRH2 AMMECR1 COX20 RAI1 RMND1 STAG2 MED13 CHSY1 GALNS TTC19 ACTC1 AFF4 AP1S2 ERCC2 DHX38 PTPN11 KAT6B RUNX2 ND1 GIPC3 SLC4A11 LOXL3 MYBPC3 PTRH2 EDN3 NDUFS3 PEX7 NSDHL NDUFAF2 KAT6B MARS2 ACTL6B PTPN22 CISD2 FGFR1 BRIP1 TECTA ERCC3 PTPN11 TRPV3 GDNF NOTCH3 OTUD6B PAX1 POLR1B PNPLA8 PORCN ABHD5 TK2 ROBO3 RAI1 PEX10 PRDM5 CERS3 PI4KA MYT1L MAP3K7 ARID2 HDAC8 SPATA5 PEX6 IQCB1 NFIX PSMD12 DVL3 GPRASP2 ZNF462 SIN3A LOXHD1 TRPS1 NEU1 NAA10 ATRX POLG2 GDF6 ATP8 PSAP SOX2 SQSTM1 TGIF1 ARID1B PSMD12 UBR1 SPRY4 GAA FKTN BCOR NDRG1 NEFL GDF6 UBE2T SUCLG1 KYNU CDC6 HCCS RASA2 THOC2 DHX16 TMPO BTK SLC25A24 SKI TTC12 LRTOMT BPTF TRNF FLNA GSC NDUFS2 TFAP2A LAMB1 OPA1 TP63 SDHA SIX1 COMT IFT140 NLRP3 OTOG FITM2 ACY1 MED12 EPS8 MYH3 TRPV4 BBS1 PIGV ATP1A2 PRPF31 MED13L PTCH1 SNAP29 FOXH1 GAB1 CCDC28B POLR1D TGFB1 PEX6 PAX2 FLII NRL PDE6G RBP3 SALL1 SMARCA4 VPS13B SLC26A4 EBP NDUFAF5 XRCC4 FANCA ARSA YAP1 COL2A1 TCF12 SQSTM1 ELMO2 TWIST1 FLNA SLC44A4 POLG STAT3 DNMT3B PEX26 MGP FLNB DLL1 DMD COLEC11 KCNE1 ARSG SHH SGPL1 TRIOBP RP1L1 EP300 MPZ SOX10 DNMT1 LSS FGFR1 SIN3A EYS LRP5 PDZD7 CHRNG SRP54 TINF2 BUB1 COL11A2 ARL6 ITM2B AHI1 ERCC3 TXNRD2 ARID1B MAK TECTA GJB2 ACSL4 NEK10 MAPK1 MICOS13 COQ8A KCNJ11 FOXE3 ASPA SYT2 ACTB COL9A2 BCAP31 PIK3CA GJA1 B3GLCT DLL1 MYCN TPRKB FSCN2 HIRA PISD MFN2 MITF SARDH RECQL4 GSN GMPPA COL11A2 GATC FOXI1 SLC52A2 BEAN1 GDF5 TELO2 FGFR3 ARX PYCR2 ERCC2 USH1C DACT1 FIBP OSBPL2 CHST3 RBM8A ZIC2 CDC42 TRNS1 GAS8 SPNS2 TNNT2 FAT4 MID2 DMXL2 RAF1 PPCS FBN1 ZNF41 POLG SLC4A11 AIFM1 ERCC8 GBA2 DDB2 PDE4D IGF1 SIX3 SALL4 SLC26A4 GJB2 PDE6B TAF1 BBS12 TTR NPHP1 BMP2 C8ORF37 GRHL2 PNPT1 COL2A1 COX3 SNRPB SLX4 HCFC1 NDP MANBA BBS7 ELN MYO15A KMT2D CASK NMNAT1 TBC1D24 TRNL1 JMJD1C IARS1 TRNT1 PAX3 ODAD1 ZMIZ1 CREBBP LMX1B COLEC10 COX2 SIX3 ORC1 GTF2I TNFRSF11B FGF8 EFTUD2 CHD7 MN1 PDK3 PCARE SOX4 ATP6 TWNK MGAT2 TNFRSF11A ERCC4 DLX5 EDNRB MOGS MBTPS2 MASP1 OTX2 PEX2 TRNK OTUD6B COQ7 ZNF469 GDF3 BBS9 RPE65 PEX2 HOXA11 RLBP1 EPG5 POLR1C GLA HYDIN ND1 RET SHH TBL1XR1 SEMA4A ABCD1 DSE ND6 CD164 DDX6 ALX3 FLNA B3GLCT CDHR1 SPAG1 GJB6 PEX26 TNC GJB2 LMNB1 ATP1A3 TWNK IDUA NDUFAF3 NDUFS4 ARHGEF6 MSTO1 PTPRQ MECOM TAF1A PRPS1 CLRN1 ZNF513 FGFR3 ROR1 COL2A1 PAX3 LIPT1 SLC19A2 PPP1CB TRNS1 HARS2 RPL11 MAP2K1 DUSP6 PNPLA6 COL4A6 SPATA7 FGFR1 PLAGL1 CREBBP TBX4 CDT1 SPATA7 OPA1 MBTPS2 PRDM5 WFS1 CASK ND4 TMEM126B NDP SLC19A2 NEXN NF2 NDUFAF1 NDUFA9 NAA10 DCHS1 TSPAN7 GJA1 GNAS MAF G6PC3 TCIRG1 ND6 BCAP31 PAX1 RRAS2 PUS3 SOX10 NEU1 GNAI3 TRNH VAC14 ATRX CDK5RAP2 DNAJC3 PRPS1 KIF7 TNFRSF11B FANCD2 NDUFS7 TBK1 FOXJ1 CDH1 NEK1 TWNK RPL10 RNASET2 PTPRQ SEMA3A SMARCD1 CNTNAP2 MYO7A CD109 PCGF2 TRMT1 PSEN2 SGCD PTCH1 RPGR ACVR1 FOXC1 COCH CNGB1 GMNN ADGRV1 NDUFS3 CNTNAP1 FRAS1 ERCC6 NEU1 HESX1 GP1BA ACTN2 NDUFA9 SLC25A4 MECP2 ND2 PEPD TYMP BAG3 PTCHD1 ERCC8 TMC1 FIG4 PDK3 OSTM1 NUBPL POLG IL17RD RBM20 MSL3 PYCR2 SYNE4 MAP3K7 SDHA IRF6 SALL4 YME1L1 TAC3 FLRT3 SHOC2 CCDC141 FGFR2 PEX14 GDF5 ND5 ABCA12 CRKL C1QBP COX15 LHX1 DCDC2 TRNL1 HS6ST1 USH1C DNAL1 GMPPA LRP5 PEX7 ABCC9 SDHA PAK3 MYH3 IFT172 SDHB SLC25A10 AMMECR1 TNNI3 NOG KCNN3 RDH12 NDUFV1 SCO2 CFAP221 AARS1 NOG MSX1 GALNT2 SLC52A3 CLIP2 BEST1 PROKR2 PIGS FGFR3 TACR3 FANCF GRAP POR ODC1 MYH14 CLPP IARS2 BAZ1B BRAF CLDN14 ATP6 DNAAF3 GAS2L2 FOXI1 TMPRSS3 DNAJC3 SIX3 ARSA XRCC2 DNASE1L3 LRP5 COLEC11 PSEN1 SIX1 ATRX BNC1 KISS1 TRNF MYH3 MYPN SLC39A8 IFT172 ANKRD1 ALOXE3 DLG1 ERCC3 SLC26A5 CDON ADGRG1 RD3 TRRAP KCNE1 NHP2 PDHA1 NRAS TP63 MYT1L NDUFS8 ZIC2 DCAF17 TBC1D24 NLRP3 FOXRED1 MPLKIP ESPN PCNA USH1C CLCN4 FAS PARN NDUFB10 FGFR3 COG1 XPNPEP3 NDUFS4 HUWE1 NAGA PRKDC GABRD TAZ GFER APC BRCA1 GJB2 AIPL1 KCNAB2 CABP2 SNX14 TWIST1 USF3 GCK NDNF ACOX1 GJB6 MYO7A HDAC4 ND5 PTCH1 FOXRED1 KIF5A TRNS2 LARS2 AGRN SDHD TRNL1 ODAD3 NDUFB11 SNAP25 SHH FIG4 TWNK ASXL1 ERCC4 GLI2 AHR PNP TNFRSF11A CRX TXNL4A MYH9 KISS1R WNT10B KCNJ13 CTC1 COL11A1 GFER ESPN KITLG NDUFV2 TBX1 IMPDH1 EYA1 WAC CHSY1 IGBP1 SOX6 NSMF LRP5 SKI ERCC2 EXOSC8 TERC ADAMTS3 PIGL GNRH1 EDNRB GPC4 CAP2 ODAD2 COL27A1 DVL3 COL4A3 SOX10 CDH1 CYP7B1 OAT PIEZO1 MYH7 ASPM STUB1 IGBP1 FRG1 COL1A2 TRNW RTEL1 BCORL1 PEX5 TWIST2 FRAS1 FOXI1 PMP22 ACVR1 NSD1 PNPLA2 KARS1 ND6 MYO9A DNAAF1 TACR3 PEX7 FGFRL1 AMMECR1 IL1RAPL1 SUMF1 TMC1 ND2 POLG FGFR2 CREBBP NDUFAF2 LMNA FGFR3 FSHR NDE1 DAB1 HACE1 CREB3L1 MITF KCNQ4 COL11A2 PUS7 ND5 TERT AAAS CRX KDM3B NODAL INTU CNOT2 ZIC1 ERCC6 NARS2 RGR RSPH9 MRPS22 NDUFB9 RFT1 CFAP298 CHD7 GTF2E2 KIF1B RDH5 KCNH1 VHL IQSEC2 UGT1A1 MFN2 IRF6 TRAPPC12 GNAS MSX1 COA8 ERF TTN IFT140 GJB6 ZEB2 DSPP COL2A1 TANC2 GNS RNF13 PCDH15 PPP1R15B ABCC8 MARVELD2