SNPMiner Trials by Shray Alag


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Report for SNP rs2298771

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Clinical and Genetic Factors Associated With Drug Resistance of Epilepsy

This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

NCT04166305 Epilepsy, Drug Resistant Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
MeSH: Epilepsy Drug Resistant Epilepsy
HPO: Focal sensory seizure Seizures

Drug Resistant Epilepsy: Clinical and Genetic Study This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

• Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism.

Primary Outcomes

Description: • DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN). • Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism

Measure: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

Time: 5-7 days


HPO Nodes


Seizures
Genes 2576
ALG13 LETM1 SLC12A5 TNFRSF11A MSX2 NONO CPLANE1 POMT2 WDR45 IL17RA NACC1 ZSWIM6 TRNS2 CCDC115 SCN1A QDPR TRNS1 MFSD2A PIGL SCN9A KCNB1 NDST1 NNT GRIN2A GABRB3 AMPD2 LMBRD1 OPHN1 CILK1 INS SCN1A GLRA1 NDUFS6 NDUFAF4 SDHD PLK4 YWHAG PROC RHOBTB2 WDR4 SLC18A3 LNPK NBAS NGLY1 NEDD4L POLG FGF8 PSAP SCN3A GYS1 CTU2 SCN3A TRAK1 MAN1B1 INPP5E PGAP1 TREX1 GABRG2 ASXL1 POLG PIGV TBX1 NUBPL POMT2 TYROBP SYNJ1 NPC2 TMEM67 CYB5A SPINK5 DHX30 MYH14 HIRA ALG2 GBA ALG9 TBL1XR1 MEN1 LARGE1 SAMD12 PRSS12 MCTP2 NRXN1 PNPLA8 KCNH1 BUB1B ALDH18A1 EXT2 SLC22A5 HLCS MPC1 SMPD1 LHX1 TNIK HLA-DPB1 KAT6B NDUFS1 PCLO PET100 APP MEFV SATB2 KMT2E LAMB1 SSR4 IL10 SLC17A5 ASS1 GCK PURA PSMD12 NOTCH3 BMPR1A GPT2 RELN WDR73 AP2M1 MC2R B3GLCT FCGR2A NDUFAF2 COG6 DYNC1I2 SUFU PSAT1 CLCN4 DNAJC6 AP4E1 SH2B1 MED12 KIF4A DOCK6 STAG2 FKTN CERT1 GJC2 NONO ATIC ACADS HERC2 FMN2 PRRT2 SIK1 RNU4ATAC PDHX SDHAF1 LONP1 BMP2 MID2 TXNRD2 RYR2 ATP5F1D SLC25A22 RPGRIP1L ATP6V0A2 NDE1 COA8 POMK DNMT3A RET TUBA1A SLC6A5 ACVRL1 KCNA1 ERMARD GABBR2 NPAP1 PPOX PAFAH1B1 DLL1 PIK3R2 SLC52A3 ND4 SDHA TPP1 KCNQ1 P4HTM CC2D1A PDGFB PIGM C1R NDUFA2 MED17 SIX3 KCNJ6 POU1F1 ALG6 SCN5A ACY1 PEX6 GLI3 SLC2A1 KCNQ3 CLPP ATXN10 NOS3 GATA6 RORA ATAD3A UFM1 CRB2 SZT2 ALDH7A1 LETM1 EGF HRAS CLP1 NDUFB8 FKRP KCNC3 MTHFR LGI4 ATP6AP2 TRAK1 MTOR ARID1B IVD GATA3 NHLRC2 COX15 TBP LAMA2 ERCC5 WWOX MED12 NDN HESX1 KRIT1 KIAA0586 ABCA7 KCNA2 MRAP L1CAM DUSP6 TMEM94 NDUFA12 OTX2 HPD ADRA2B COG4 ALG13 TBL1XR1 SLC52A2 LMAN2L PACS1 MYORG EZH2 IL1RAPL1 TDP2 SMARCC2 CDK5 GABRB2 GTF2E2 PIGA CNKSR2 POLR3A PIGA RNASEH2A KCNA2 RAB39B ASH1L FGF12 TGFBR2 ALG1 CNTN2 TWNK MTFMT TPK1 CACNB4 ARHGAP31 KIF1A NTRK2 SOX10 HADHA SPATA5 GLA SETD5 CAMK2A CALM1 KCNJ11 TUBB2A MEF2C GATA6 TBR1 ATAD3A TRNK ATP6 CLTC SLC1A2 CILK1 DPM2 GLDC TBX19 TBCD POGZ KCNJ11 SLC6A8 SYNJ1 DLD ATM ABCC8 KCNQ2 IL1RAPL1 KCNA1 FRG1 IDH2 TRAPPC11 ABCA5 CCR1 SON RTTN ERCC2 PDE6D KCNQ2 GP1BA MVK SLC25A15 CLN8 POMGNT1 GAS1 ATP6V0A2 CPS1 STX1B KMT2D IREB2 KIF15 TMEM70 STT3B ATRX CHD1 MCCC1 NDUFS3 TRNT PIK3CA TBC1D24 HIBCH DPM1 CSPP1 LBR FBP1 TBC1D20 ATP6AP2 TRNQ RPS6KA3 PTPN22 TRNN IDS IL17F CCM2 GDF6 HERC1 SCARB2 RPGRIP1L GP9 ZBTB18 RAB39B KIAA1109 NSD2 CDON CDH23 COG2 FGFR2 AGTR2 TRNK SEMA3A SNRPN FOLR1 KCTD7 ARID1A TBC1D24 SCN2A SOX5 RAB39B ARF1 LYST TUBGCP6 RDH12 GLS WDR4 SRPX2 PEX14 INPP5K ANK3 ADGRV1 HLA-DPA1 KCNE1 ANKRD11 NUP214 CD96 FIG4 CLN6 MTOR GNB5 DPM1 AP4B1 ATP1A2 TRNW PANK2 BTD B4GAT1 CLCF1 PAK3 FARSB RNASEH2A ATP6 ARX BTD MAPT OSGEP MBD5 LSS ZNF142 KMT2D NOTCH1 HCN1 SMC1A SMG9 TSC1 MICOS13 SLC25A4 FUT8 VLDLR ZNF592 PERP TP53 DNMT3A ROGDI ATP8A2 ACAT1 ATXN10 TACR3 MTRR FRA16E MLH3 TOE1 PDSS2 SCN4B CRADD POLE FGFR3 KMT2C GRIN2B MFF GLI3 IFT140 FARS2 CYFIP2 MID2 NRAS SHANK3 DCC VPS13B KIF5A KANSL1 ALPL DPAGT1 CHRNA4 TWNK GBA KCNQ3 SNX14 SLC13A5 CPT2 MMADHC SCN10A KAT6A CACNA1B ATP5F1A ATP7A AKT1 NRAS TREX1 SNAP29 CCDC141 SNAP25 NIN RARS2 ND3 IPW POLG2 ERCC6 GUCY1A1 INS KCNMA1 TSC2 BUB1 SLC9A6 ANO10 SCN8A UCP2 AFG3L2 ST3GAL5 DOLK CACNA1A ERAP1 SYP MSH6 KCNJ6 ATP1A2 PLPBP NOTCH1 PEX12 EIF3F GLI2 CACNA1H ZIC2 DOCK6 HRAS PIGO SLC45A1 HADH DMD SLC1A3 GJA1 EFHC1 GSS ADAM22 KCNH1 MEGF10 NPRL3 FCGR2B HNRNPH2 CC2D2A ALMS1 AIPL1 FTSJ1 SCN8A CHRNA7 KIAA0556 PEX5 KDM6A ERCC3 NARS2 PQBP1 TOE1 CTLA4 AVPR2 ATP6AP2 OCLN CLN8 CDK10 ST3GAL3 CRPPA ZBTB20 TRNS1 POLG2 MECP2 AKT1 NSDHL PGAP3 GPC4 CHMP2B TYROBP CALM2 MVK ERCC5 ARX EOGT DNAJC19 MTHFD1 PEX16 ND1 GABRD FKRP NEDD4L SUCLA2 GABRA5 SLC16A1 OCRL ADAR HERC2 RAB3GAP1 PEX14 PEX2 SDHA PEX1 GNAS GNAS KCNMA1 ADD3 ARID2 RNASET2 POMGNT1 EFHC1 PEX2 SEMA4A PIK3CA RAB3GAP2 CASR FLII NECAP1 NDUFB8 PLA2G6 C4A PSAP FKRP FA2H UNC80 USP9X CAMK2A PIGW CNTNAP2 POMT2 MEFV GYS2 SYNJ1 TRAPPC11 PHOX2B FKTN VPS11 CASK MARCHF6 APP NTNG1 ATP6V1A SYNGAP1 GBA HCN1 TRNT1 FTL PMPCB PEX13 DNM1 HS6ST2 CIC TUBB2B GABRA1 TRAPPC9 ATN1 SLC35A2 PHF6 SELENOI GTPBP2 PEX1 NDE1 RANBP2 SIK1 GTF2H5 AMACR AIFM1 ND5 GMPPB GYS2 CYP2R1 PEX1 ALKBH8 UPF3B TUBG1 SLC6A1 EIF2S3 BCOR ALDH3A2 COX15 ACTA2 ND1 MTM1 WDR26 RAI1 PARS2 PRODH LAGE3 MCCC2 ANOS1 CLTC IQSEC2 NPRL2 BSCL2 WWOX HYMAI COX2 TBC1D24 MBTPS2 KCNN3 PROKR2 ALDH7A1 TRNQ TMEM216 TMEM231 STXBP1 MMACHC KCNA1 LAMA2 ADK PHACTR1 GRIA3 USP9X KIFBP OCRL ARX NLGN3 SLC35A3 PODXL DNM1L RELA PRUNE1 SOX4 CASK SLC2A1 CPT2 FLVCR1 GLI3 PLAGL1 CDKL5 FAR1 COX3 FOXA2 MECP2 KCNQ2 C12ORF57 NHLRC1 CAMKMT IQCB1 ATP5F1A L1CAM BMP4 CTSA CDKL5 LINGO1 HLA-B SET SCN1B CLP1 DHFR GNAO1 PAK1 DEGS1 PRF1 SERAC1 TBC1D24 SRPX2 CNNM2 SMARCA2 PIGW BCKDHB NDP METTL23 IQSEC2 ABCC8 NIPA1 IFIH1 PPP3CA SCN1A YWHAG TRPM6 SLC13A5 ND5 TMEM216 CASQ2 ASAH1 TBC1D24 COX20 AIP ATP7A COG7 PHKG2 GALC FKTN SEC24C PPT1 FRRS1L BRAT1 HACE1 MYO1H FUCA1 NRAS DIAPH1 TSFM ACSF3 SLC9A7 ATR FLI1 SCN8A EIF2S3 TSEN2 MIPEP ARV1 CDKL5 FGFR1 ZNF81 PAFAH1B1 KLF13 CACNA1D PRNP NAA10 ASPA SNIP1 METTL23 NF2 SOX11 HEXA TDGF1 AKT2 KCTD7 PIGG PEX14 FGFR3 DEPDC5 SMARCB1 PCDH12 GNS NEU1 PEX6 ITGB6 PSAT1 PRDM16 PHACTR1 SPR STXBP1 LHX4 USP45 DHDDS GNAQ FOXRED1 GEMIN4 LARP7 PIEZO2 B9D1 HADHA GBA GATA4 ABCC8 ERCC2 STS SLC12A5 THOC2 SCN2A GLE1 MMUT ARMC9 ANTXR1 PLCB1 TSC2 POLR3A GLYCTK RFT1 KRIT1 BCOR KRAS SMAD4 TACO1 KCNH2 ELOVL4 TBC1D24 VCP INSR CEP41 SLC39A8 TBCE PACS2 OSTM1 FASTKD2 CHD2 SPP1 ALG13 CARS2 CA8 XPR1 GPAA1 PEX1 POLA1 PHOX2B SUOX ALDOB CYB5R3 SDHAF1 ADNP SETD2 TMEM231 PSAP CPT2 FKTN ARFGEF2 TULP1 WAC TRNL1 GPR161 GRIN2B PTPN22 PDCD10 COX1 RNU12 SP110 NKX6-2 ZEB2 TK2 CNTNAP1 SLC25A1 STAR TRNC AHI1 TUBB2B NOTCH3 CFTR MAPK10 ACO2 CLIC2 NDUFA13 TMEM237 ISCA1 D2HGDH SLC46A1 RFT1 RELN RREB1 PDSS2 HESX1 SIN3A PLAGL1 GJA1 LMNB2 GMPPB HNRNPU SCO1 TBCE GRIK2 HIBCH PDHA1 TECPR2 SYT2 STARD7 LCA5 CUX2 FRMPD4 CNPY3 PIGY PLAA PLK4 ERCC1 FMN2 FGFR2 ECM1 C11ORF95 ATP6AP1 TBCE SLC25A42 COX10 CPA6 COX10 PHGDH FBXO31 TSPAN7 RPE65 DCX DLG3 MOGS CPLANE1 APP CLCNKB TREX1 PRTN3 CAV3 GMPPB PLA2G6 PROP1 FXYD2 CACNA1A APC2 SCN2A DYRK1A GRIK2 MC1R TMEM106B DYNC1H1 HCN1 NSD1 HACE1 CSNK2A1 ZFYVE26 SMARCA4 NDUFA4 POLG TRNW BCKDK UBE2A ND6 ZNF41 MPDZ HNF1A GM2A ABCC8 OTX2 FGFR3 MED25 TARS1 GOSR2 GLUD1 TRNV ND4 NDUFS8 ALPL CAMK2B DBT UBA5 NDUFAF3 POMGNT2 ACADM PHOX2B SLC25A13 BPTF ARHGDIA GBA TACO1 DLG3 SLC33A1 SLC19A2 FOXG1 ASCL1 DAG1 AGRN GABRA1 TBX1 NADK2 RAI1 ND6 ARX ANK1 ARG1 NDST1 KRAS NDUFS7 MECP2 SCN1B ANGPTL6 MANBA UBA1 NTRK2 LARS1 EFTUD2 HDAC8 FAM111A AIMP1 CCDC88C NOTCH2NLC COL18A1 BRAF RORB MGP TRNV NAGA ROGDI SETD5 AGA ADNP ABCC8 AMER1 TP53RK COL3A1 GRIN2D WDR45 HS6ST1 COG5 KDM6A ALG2 HNMT FBXL4 JRK NPC1 PGAP2 RPS6KA3 GLB1 KCNJ13 SMC1A SLC6A1 EIF2B1 EXTL3 JAK2 ROBO3 GBA CYP27B1 ZFP57 VARS1 ADPRS AP4E1 COL3A1 CLCN2 SDHD ZNF423 FLNA KDM6A HNF1B TCF4 PIBF1 AIMP2 IL12A PDHA1 PEX5 TRNQ AP1S2 PEX26 RXYLT1 ARID1B WDR81 PDGFRB ECM1 PIGN TMEM165 ARG1 HADH ARNT2 ARHGEF6 ATAD1 ACADM RAC1 TRNF SMAD4 RPS6KA3 PEX3 EGF NDUFAF3 FAT4 NDUFA11 LRP2 CASK EIF2B5 DLD TRNS1 STAT3 SPTBN4 SRPX2 AKT1 PRKDC SGPL1 AARS1 DHDDS SDHC NSD2 TRNL1 GP1BB MAGEL2 PDX1 MPDU1 KCNC1 EXT2 TUBB3 EFTUD2 HEPACAM FTSJ1 ANK2 RRM2B KCNQ3 EFHC1 OCLN SLC12A6 SORL1 LYST PRMT7 PEX5 PIGL RTTN CRKL CYP27A1 NLGN4X CPLX1 PAX2 SOX10 SETBP1 FAM111A NDE1 PRKAG2 RNU4ATAC CHRNA2 CSTB HIVEP2 STUB1 PIGO ARFGEF2 TRDN NDUFA10 SPAST TRAPPC11 IRF3 PIK3CA SYN1 NDUFAF5 TCF4 GAMT NDUFV1 MEF2C TRAPPC2L SLC2A1 NSD1 SPR SEPSECS MAP2K1 SLC35A2 TRNL1 CASQ2 SHH SMC1A NUP133 PAH PGK1 LIPT1 SCN8A ADA2 ATM STAT4 GRIA3 TRNI HIC1 SLC35C1 MKRN3-AS1 AHSG PEX7 KCNJ10 CACNA1D VPS13A RAD21 PEX19 KLHL7 CDC42 HNF4A RUBCN SCO2 ATP1A1 MAPK1 CYP26C1 KIF5C SETBP1 ANKRD11 NDUFA9 RUBCN GABRB1 MEN1 MC2R ANKRD11 CYP27B1 FAM126A GCM2 EPCAM GABRG2 EFHC1 ELP1 SLC6A8 PEX16 MMADHC SZT2 BCAP31 PRRT2 TUBGCP6 FRMPD4 NUP133 ACTL6B ST3GAL5 IRAK1 DDB2 DGUOK ENG TGFBR3 SARS1 PTEN ZNHIT3 TCF20 BCR MECP2 AUH PHKA2 WDR45 UQCC2 SON KCNAB2 KCNB1 CUL4B VPS11 ARL13B RNR1 IVD GNE ASAH1 ATRX NDUFS4 GCDH IKBKG PIGC SAMHD1 B9D2 PHF21A NFKB2 NUS1 AVPR2 GRN ARX TMTC3 ARID1B NANS PLAA ARX CLPB FLNA SLC1A3 CUX2 CYP27A1 ATP1A3 OPA1 MBTPS2 GPHN CTC1 SNORD118 COQ2 MTFMT EML1 NMNAT1 TGIF1 HMBS TREX1 WDR11 FGFR1 LRAT MYO5A GABRA2 SUCLA2 PRKCD TIMMDC1 FGFR3 CCM2 COQ2 IRF2BPL ADGRV1 TGFB1 GRIN1 PCSK1 HMGCL BCKDHA TDP1 PSPH DOCK7 ECE1 PMM2 GCK TRAPPC6B HTRA2 DSTYK TAT PAH OTUD6B WDR73 YEATS2 GNAO1 RAB27A HTT ACTG1 ERLIN2 CBS TSEN54 ERCC4 CRLF1 SUMF1 DENND5A CAMTA1 SDHA L1CAM FTO WFS1 DBH PPM1B DHCR24 COX8A GPHN GRIA4 MLYCD NUS1 PUF60 MANBA CNTNAP2 TRNF CEP290 PEX5 UBE3A EP300 ABCC9 CHD1 COX14 NDUFS7 RPGRIP1 LIPT2 GLI2 GABRG2 SASS6 ARX CYTB MFSD8 RBPJ STRADA VPS53 CTSA KIF11 PEX5 HYLS1 TRMT1 CEP104 OTC PTEN IMPDH1 SCN2A SLC46A1 CPOX ROBO1 ST3GAL5 TBX19 SLC6A19 RAB11B LINS1 NDUFAF6 SNORD115-1 NSUN2 ARVCF ATP6V1B2 KDM5B B3GALNT2 CFH TMEM237 COL4A1 AQP2 PIGV TTR ATRX SLC25A22 HAX1 PEX13 MGP ZC3H14 PEX12 JMJD1C ACTB LAMA2 CEP41 LARGE1 ND5 FGF17 HCFC1 TMLHE EDC3 NAGA SLC5A7 CTSD FLI1 POLG HSD17B4 NF1 SUFU SHROOM4 SLC25A20 GRN GPT2 SPTAN1 NTRK2 SOX2 CDKL5 TP53RK ADSL SMARCA4 NFIA BUB1B PEX2 GNAQ PMS2 KIF2A MPLKIP INPP5E COL18A1 TCTN2 MAF ITPA NNT MOCS1 EZR ERLIN2 EEF1A2 BCS1L NGLY1 ACTG1 POLG PEX5 XPNPEP3 NSD1 PSAP ARCN1 SIX3 RMND1 LAGE3 GDNF TMEM237 CLN8 USP18 CACNA1B PEX10 GUF1 NODAL AP4M1 GNAS ARHGEF9 MSH2 ATN1 CCNQ FGFR3 HMBS NEUROD2 GABRG2 PCYT1A FA2H SHROOM4 GNAS PPP2R1A COQ9 PEX10 TSEN54 STT3A NDUFAF5 WHCR CTLA4 POMT2 PEX11B RAI1 GJC2 AARS1 MYH3 RPS20 SYNGAP1 SRD5A3 CCDC141 TP53 PSMB8 POLG NEXMIF TRAF7 FGFR1 SGSH MECP2 GABRB2 MTR GUF1 PSAP C12ORF4 ASL ABCC8 RERE PEX16 CCBE1 ALDH18A1 CTNNB1 KCNJ5 PGM3 SCN10A PSAP NEXMIF GLRA1 CENPJ CPLX1 FLNA GRM1 COX3 TP53 RBM10 SLC12A1 LIAS POMT1 TRDN ZBTB18 NUS1 AMT PSEN2 HLA-B MAFB COX2 ARX FAS TRAPPC9 CNPY3 CRB1 LAMC3 EEF1A2 OSTM1 RRM2B MAP1B DPM2 SSR4 SNTA1 SLC9A6 GPC3 ND5 PEX11B CRIPT TRIM8 HEPACAM AKAP9 ACTB ACVRL1 MYRF SLC2A1 PTEN DLL4 ACTL6B MBD5 CLCN2 FOXRED1 ALG1 ERCC3 ERCC6 BCOR EPM2A TRNF CNKSR2 COQ6 ACY1 LGI1 SNORD116-1 MCPH1 AIMP1 DHDDS OTX2 EPG5 SMS SETD2 NRAS KRAS GRIN2A SCN8A SLC35A1 NAGA KCNA2 TREM2 PSMD12 POU3F4 ASPA ARL3 PLA2G6 HYMAI TCTN1 EEF1A2 HADHB CLCN4 PLA2G6 VDR RAP1A PCNT PCK1 ATN1 ALX4 NDUFS4 XK TWNK PTS NDP SIK1 CEP164 SLC25A20 PIGL CNTN2 KCNK4 STAT4 MECP2 SLC39A8 HESX1 NHLRC1 CRLF1 TLK2 TUBA8 TRIO GBA PRPS1 PSAP SMARCE1 PTS GFAP WDR62 RPL10 CDH15 TECPR2 EBP KIF7 CCBE1 EPG5 PEX6 FA2H ARSA VLDLR ADAT3 SCN1B PEX3 GBA NAXD MACF1 LRPPRC ABAT TREM2 SLC25A12 GAL PIGY PQBP1 PROK2 FGFRL1 KISS1R CASP10 CACNA1C TRIP13 GLA DNM1 PIGC ACVR1 RAP1B COQ4 COLGALT1 CTNNB1 PTEN KIF11 CC2D2A PAH ARX SCN2A RANBP2 PUM1 CLDN16 TMEM106B CLCN4 KMT2A COL4A2 FLCN EMG1 BOLA3 EIF2B3 GABRD NAGS TUBB2B PNKP NAGLU IKBKG HCCS PSPH MOGS ETHE1 SLC25A22 PDGFB TBCK NTRK2 SLC19A3 HDAC8 PRDM8 SPRY4 HTT IL23R VPS13B HCCS TUBGCP4 COG8 GABRA1 TAF1 UPB1 PIK3CA JAM3 ND6 FOXG1 STT3B PROKR2 MECP2 ATP1A3 TRNF TRNL1 DDX3X EPRS1 UFD1 ALG11 EIF2AK3 BRAT1 ATP1A3 CC2D2A TLR3 CAMTA1 NAGS POMT1 TMEM67 TCIRG1 KCNJ10 CLIP1 SLC2A1 KLHL15 TDP1 FADD CXCR4 RBM8A SCN11A NF2 CASK ATP6V1A OFD1 AP3B2 LRP2 KPTN PEX13 HUWE1 ARX EHMT1 PDP1 PRNP TAF1 CHRNB2 FMR1 PNPO ARV1 MECP2 TBK1 AKT2 TMEM70 GRM1 TRRAP KCNH1 GLUD1 TPRKB ARSA CDH11 SARS1 POMT2 FAS POLA1 HSPD1 NDUFAF2 AAAS ANKH TXN2 ESCO2 DCC NF1 SLC13A5 FKRP ASPM ATP2A2 CHAT MPDU1 CISD2 UFC1 ISG15 CARS2 RAC1 PEX11B FADD CLIC2 GCSH RNASEH2B KMT5B AVPR2 NAT8L TFAP2A ATP6V1A HCN1 SLC12A3 TBCE COX7B PPA2 STX1B STAG1 DPAGT1 PIK3R2 GRIN1 KMT2A PRRT2 MAGEL2 WARS2 CBS EPM2A TRIP13 SMARCB1 IQSEC2 SCN9A KCNJ11 PDE10A PWAR1 PC POMT1 KCNQ2 TECR TANGO2 YEATS2 UBE2A PIGS TRNK TGDS EDN3 ACOX1 PEX26 FKTN PNKP XPA UBAC2 POMGNT1 SDHB RELN GABRD ERLIN2 MSX2 AKT3 IL17RD PDCD10 CNKSR2 ATP6V0A2 NPHP1 PET100 JRK KCNJ11 NIPA1 CLN5 CXORF56 CRBN PPP2CA SMARCA2 STAMBP ERMARD PNPO GRIN2B RECQL4 ERCC8 RAB39B AMACR GMPPB LMAN2L SIK1 XPC UBE3A MMACHC PHF6 FBP1 PPP2R5D HCFC1 GATAD2B SCN9A PLEKHG2 MAST1 IER3IP1 STXBP1 CSF1R BCL10 TBC1D24 MAPRE2 NIPBL PGAP2 KDM5C ARF1 GABRB3 IQSEC2 CDON FAM111A CPLX1 PROKR2 MKRN3 GCK TSC1 RASGRP1 FLRT3 SCN3A CEP290 SCN1A ST3GAL3 ENG SURF1 DHCR7 PGAP1 PTRH2 MYO9A GABBR2 SLC19A3 MPL CTNNA2 RPGRIP1L UBA5 PEX19 TRIT1 CLPB SURF1 GABBR2 L2HGDH MTO1 TRNP SOX10 SMC3 NAXE TBCD BCS1L GPC1 STT3A DISP1 CENPE KCNQ5 CUL4B COX6B1 CPT2 TUSC3 TBCE ATP6V1E1 CTH SARDH GMPPB ND2 TRPV3 SDHA GABRB3 SMARCB1 LARS2 PLPBP GCDH TUBA8 PDX1 SURF1 HECW2 IL12B IFIH1 SLC6A19 PRRT2 GLRX5 SDHD BRAF CDH23 NFIX ASXL3 GPAA1 DHCR24 RD3 UBTF CTBP1 PARS2 LARGE1 SH2B1 KCNT1 RAB18 NECTIN1 SHANK3 WWOX PAK3 BRAF SAMD9 ATIC PIGP NDUFS2 RSRC1 TRAPPC9 PRSS1 CCDC88A APP NSUN2 CLN3 XPR1 STX11 GMPPA NEK9 DNASE1 CEP290 EMC1 PTCHD1 DPYD KRAS BSCL2 STXBP1 SLC17A5 IL12A-AS1 THPO NDUFA1 ATP6V1A AP3B2 RARS1 NCAPD3 TSC1 POMC MKS1 ATP6 HSD17B10 PHGDH PSEN1 PEX26 NDUFS1 HESX1 TRAPPC11 TRNK AUH PSEN1 GNAS MED23 MBOAT7 COX1 GNE B4GAT1 GCM2 MED12 OAT GPHN PEX3 VARS2 COMT SPG11 GJC2 AGA CLEC7A DEAF1 SKI ATP13A2 DCPS ZSWIM6 HPRT1 ALDH5A1 TRAPPC12 BCL11B MGAT2 TWNK ADGRG1 DHPS MEIS2 TRNH SLC20A2 SLC35A3 PEX10 ARID1A FCSK NDUFB11 PRRT2 CRX FGFR1 KCNQ2 CHKB GABRG2 CHN1 RSRC1 FGFR3 PACS1 IQSEC2 NDUFV1 TRNK TRNL1 CEP120 PSEN1 HUWE1 SLC25A15 CPT1A PEX13 KMT2A GAD1 TREM2 GABRD ADAMTSL2 GP1BB ALG3 PEX14 WDR11 VPS13A ZDHHC9 AP4S1 ARSA OSGEP MRPS22 DIS3L2 KIAA0753 WASHC4 CD96 PRDM8 SC5D DDOST NSMF FARS2 TRNS1 KCNE2 TDP2 RNF125 PTCH1 PCDH19 CAD ASXL1 OFD1 PRRT2 GK B3GALNT2 PEX10 CHD2 CERS1 CTSF NIPBL VAMP1 SERPINI1 ARX SCN1A SCN2A KCNJ1 ANKLE2 TMTC3 CEP120 ST3GAL3 STX16 HNRNPU PEX19 DIP2B CHD8 LAS1L SPATA7 GNAQ CIT PLP1 PEX12 TCF4 SLC1A4 TRNW YWHAE GRIN2A AHI1 POMK PCDH19 C1QA C9ORF72 TSC2 KLRC4 GAMT KCNMA1 RPIA CPS1 TRNP ALG9 B3GALNT2 PRICKLE1 ALG3 ADAMTS3 USP9X COQ8A TUBB3 GLI3 CKAP2L PRPS1 ACSF3 POGZ ATP6V1B2 GTPBP3 POLG NIN NDUFB11 SMARCE1 WARS2 FASLG CREBBP FRRS1L RPS6KA3 CTRC ANK3 GABRB3 QARS1 ZC4H2 SAMD12 MTHFS SPINK1 SYN1 ETHE1 CHD2 PRDX1 WDR73 GPSM2 GUCY2D ERCC6 FGFR1 SLC13A5 DPF2 EHMT1 ARHGAP31 COA8 ECHS1 BCORL1 KIF7 PROK2 MED12 SMS AASS TSEN54 ALDH5A1 ERCC2 KCNQ3 NEU1 MICAL1 CKAP2L SCN1A SMARCC2 RERE SLC2A1 MAPK8IP3 ATRX GABRA1 EIF2B2 CLN6 CPT1A HTRA1 SCN9A AQP2 TIMM50 FGF12 IL17RC IBA57 FAN1 PIGQ ABCC8 NECAP1 PROP1 CRBN POMGNT1 SMC3 CC2D2A SUCLG1 TRIP12 GCH1 AUTS2 EBP ARNT2 RNF113A ALG11 SQSTM1 ARSA PMM2 MTOR TRMT10A GDI1 GNB1 MECP2 TBC1D24 CTNND2 PWRN1 AP4B1 FOXG1 IFNG TWNK KDM6B DNM1 PIGP PRODH MKS1 KAT6A ENG PCCB PEX3 NADK2 CACNA1E TRNH CDK13 CYFIP2 PYCR2 PIGH RPL10 ALDOB INSR DEAF1 COG8 MAN1B1 NEUROD2 PTF1A BRAF TSC1 KRAS FUCA1 NDUFS2 UPF3B OFD1 KCNT1 MYO5A MAN1B1 TMEM67 GNB1 KDM5C ALAD ELMO2 PTCH1 SIK3 L2HGDH ALDH3A2 PEX26 BUB3 AP4S1 TWIST1 TBCE COL25A1 CACNB4 UGT1A1 COG4 HLCS NAA10 GRIN2D DNM1L SLC1A2 SLC2A1 TRAF3IP2 PEX6 TCTN3 WFS1 NSDHL LIG4 FEZF1 KCNT2 SLC45A1 PREPL DNASE1L3 TSEN54 FAM149B1 SCN2A HDAC8 STXBP1 DARS2 HGSNAT SETBP1 EXOSC3 ADSL NALCN DNAJC6 ACADSB TUBB4A FOXH1 AP3D1 MBTPS2 USP27X RAB18 PIGN RNF213 KAT6B OPHN1 FMR1 EARS2 PMS1 CCND2 TMEM138 SNRPN CFHR1 GDF2 TSC2 KCNJ11 NUP107 HMGCL CNNM2 BDNF TK2 GLRB FLVCR2 NDUFA2 FGFR2 OTUD6B KIF1A TREX1 MLH1 STXBP1 ARX COL4A1 TRNS2 LMNB2 ASNS TSEN15 GDI1 GLS PEX1 PCDH19 KATNB1 EIF2B4 SLC19A3 PIGT GM2A DDX3X PPP1R15B ABCD1 EXOSC9 HDAC4 TWNK INPP5E GCK PTH CHD7 LHX4 NOS1AP FBXO11 COG2 MMAA CPA6 HTT DNAJC5 NDUFAF6 CRADD ARL6IP6 PLCB1 PEX2 GRIN2A SYP PRRT2 DCX NSUN2 SMARCB1 AFG3L2 TRNS2 SCN1B TXN2 MED25 ERMARD GNAO1 NELFA SLC2A1 NDUFV2 SLC25A1 POMC MLC1 SIN3A POMT1 FGFR2 MDH2 CFHR3 MED12 SC5D PTCH1 FAS CACNA1A PEX12 DHCR7 TBC1D20 MBOAT7 TRIO ALDH4A1 DPYS AP4M1 ND1 TLR4 SLC12A6 ACOX1 PIGN KCNQ1 PROKR2 AKT3 PEX16 SLC12A3 ADGRG1 GLUL SPTAN1 GLI2 AIFM1 ARHGEF9 TBX1 ZNF711 ASXL3 ASXL2 PPP3CA TOMM40 ZNHIT3 CNOT1 COQ8A ARMC9 FGF8 FH NEK1 CHRNA7 HADH RNASEH2C PGAP3 KLLN ATAD1 SLC25A19 SLC3A1 COL13A1 PEX6 SEC23B POMK NFASC RAB27A MYO5A ADA2 COX7B PEX19 PTEN NDUFB11 SOX3 GABRG2 GFM1 SDHB LAS1L PCCA HMGCS2 TBC1D23 CEP57 SCN9A ACSL4 TBX1 CPT2 KCNE1 PIK3R2 NDUFS8 MOCS2 IARS1 MLX