Table 3.
Overview of gene list of our method
| Brain malformation | ARFGEF2 ARX DCX EOMES FKRP FKTN FLNA GPR56 LAMC3 LARGE NDE1 OCLN PAFAH1B1 POMGNT1 POMT1 POMT2 PQBP1 RELN SRPX2 TUBA1A TUBA8 TUBB2B TUBB3 VLDLR |
| Hereditary hearing loss | ACTG1 BSND CCDC50 CDH23 CHRN CLDN14 COCH COL11A2 DFNA5 DFNB59 DIAPH1 DSPP ESPN ESRRB EYA4 FAM189A2 GJB2 GJB3 GJB6 GPSM2 GRHL2 GRXCR1 HGF KCNQ4 LHFPL5 LOXHD1 LRTOMT MARVELD2 MIR96 MYH14 MYH9 MYO15A MYO1A MYO3A MYO6 MYO7A OTOA OTOF P2RX2 PCDH15 POU3F4 POU4F3 PRPS1 PTPRQ RDX SIX1 SLC17A8 SLC26A4 SLC26A5 SMPX STRC SYNE4 TECTA TJP2 TMC1 TMIE TMPRSS3 TPRN TRIOBP USH1C WFS1 |
| Epilepsy | ALDH7A1 ARFGEF2 ARHGEF9 ARX ATP1A2 ATP2A2 ATP6AP2 ATP6V0A2 ATRX CACNA1A CASK CASR CCDC88C CDKL5 CHRNA2 CHRNA4 CHRNB2 CLCNKA CLCNKB CLN3 CLN5 CLN6 CLN8 CNTNAP2 VPS13B COL18A1 COL4A1 CPT2 CSTB CTSD CUL4B OFD1 DCX DEPDC5 DNAJC5 EFHC1 EMX2 EPM2A FGD1 FGFR3 FKRP FKTN FLNA FOXG1 GABRA1 GABRB3 GABRD GABRG2 GPC3 GPR56 GRIA3 GRIN2A HSD17B10 KDM5C KCNA1 KCNJ1 KCNJ10 KCNMA1 KCNQ2 KCNQ3 KCNT1 KCTD7 KIAA1279 LAMA2 LARGE LBR LGI1 MBD5 ME2 MECP2 MEF2C MFSD8 MLL2 NHLRC1 NIPBL NOTCH3 NRXN1 OPHN1 PAFAH1B1 PAK3 PANK2 PAX6 PCDH19 PEX7 PHF6 SERPINI1 PIGV PLA2G6 PLP1 PNKP POLG POMGNT1 POMT1 POMT2 PPT1 PQBP1 PRICKLE1 PRICKLE2 PRRT2 RAB39B RAB3GAP1 RAI1 RELN RNASEH2A RNASEH2B RNASEH2C SAMHD1 SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SETBP1 SLC25A22 SLC2A1 SLC4A10 SLC9A6 SMC1A SMC3 SMS SNAP29 SPTAN1 SRPX2 STXBP1 SYNGAP1 SYP TBC1D24 TBX1 TCF4 TPP1 TREX1 TSC1 TSC2 TUBA1A TUBA8 TUBB2B UBE3A VPS13A WDR62 ZEB2 |
| Hereditary sensory and autonomic neuropathy | ATL1 CCT5 DNMT1 FAM134B HSN2 IKBKAP KIF1A NGFB NTRK1 RAB7 SCN9A SPTLC1 SPTLC2 WNK1 |
| Intellectual disability | ABCC9 ABCD1 ABCD4 ABHD5 ACAD9 ACO2 ACOX1 ACSF3 ACSL4 ACTB ACTG1 ACVR1 ADAR ADCK3 ADSL AFF2 AGA AGPAT2 AGTR2 AHCY AHI1 AIFM1 AIMP1 AK1 AKT3 ALDH18A1 ALDH3A2 ALG1 ALG12 ALG13 ALG2 ALG3 ALG6 ALG9 AMT ANKH ANKRD11 ANO10 AP1S2 AP3B1 AP4B1 AP4E1 AP4S1 APTX ARFGEF2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARL13B ARL6 ARX ASB11 ASL ASPA ASPM ASXL1 ATP1A2 ATP2A2 ATP6AP2 ATP6V0A2 ATR ATRX AUH B3GALTL B4GALT1 B4GALT7 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCKDHA BCKDHB BCOR BCS1L BIVMERCC5 BLM BRAF BRWD3 BSCL2 BUB1B C5orf42 CA2 CACNA1C CACNG2 CASK CC2D1A CC2D2A CCBE1 CCDC78 CDH15 CDK5RAP2 CDKL5 CDON CENPJ CEP135 CEP152 CEP290 CEP41 CHD7 CHKBCPT1B CNTNAP2 COG1 COG7 COG8 COL4A1 COL4A2 COLEC11 COQ2 COX15 CRBN CREBBP CTDP1 CTNNB1 CUL4 CYB5R3 D2HGDH DBT DCX DDHD2 DDX26B DHCR24 DHCR7 DHFR DHTKD1 DIP2B DKC1 DLD DLG3 DMD DMPK DNAJC19 DNMT3B DOCK8 DPAGT1 DPM1 DPYD DYM DYNC1H1 DYRK1A EFTUD2 EHMT1 EIF2AK3 ELOVL4 EMX2 ENOX2 EP300 EPB41L1 ERCC2 ERCC3 ERCC6 ERLIN2 ESCO2 ETHE1 FANCB4 FANCD2 FAM120C FBN1 FGD1 FGFR2 FGFR3 FH FKRP FKTN FLNA FMR1 FOXG1 FOXP1 FRAS1 FTO FTSJ1 FUCA1 GAD1 GALE GALT GAMT GATAD2B GATM GCH1 GCSH GDI1 GFAP GJC2 GK GLDC GLI3 GNAS GNPAT GNS GPC3 GPHN GPM6B GPR56 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GSS GTF2H5 GUCY2F GUSB HAX1 HCCS HCFC1 HDAC4 HDAC8 HESX1 HLCS HOXA1 HPD HPRT1 HRAS HSD17B10 IDS IDUA IER3IP1 IGF1 IKBKG INPP5E IQSEC2 ISPD JAM3 KANSL1 KAT6B KCNJ11 KCNK9 KCNQ2 KCNT1 KCTD7 KDM5C KDM6A KIAA1279 KIF11 KIF7 KIRREL3 KLHL13 KMT2D KRAS KRBOX4 L1CAM L2HGDH LAMA2 LAMC3 LAMP2 LARGE LARP7 LIG4 LRP2 LRPPRC MAGT1 MAN1B1 MANBA MAOA MAP2K1 MAP2K2 MAT1A MBD5 MCCC1 MCCC2 MCOLN1 MCPH1 MECP2 MED12 MED17 MED23 MEF2C MGAT2 MID1 MKKS MLYCD MMAA MMACHC MMADHC MOCS1 MOCS2 MPDU1 MPLKIP MRPS22 MTR MTRR MUT MVK MYO5A NAA10 NAGA NAGLU NBN NDE1 NDP NDUFA1 NDUFA11 NDUFA12 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NEU1 NF1 NHS NIPBL NKX2-1 NLGN3 NLGN4 NLGN4X NLRP3 NPHP1 NRXN1 NSD1 NSDHL NSUN2 NTRK1 OCRL OFD1 OPHN1 ORC1 PACS1 PAFAH1B1 PAK3 PANK2 PAX6 PC PCDH19 PCNT PDHA1 PDSS1 PDSS2 PDZB11 PEPD PEX1 PEX10 PEX11B PEX13 PEX26 PEX5 PEX7 PGK1 PHF6 PHF8 PHGDH PIGN PIGO PIGV PIK3R2 PLCB1 PMM2 PNKP PNP POC1A POLR3A POLR3B POMGNT1 POMT1 POMT2 PORCN PPOX PQBP1 PRODH PRPS1 PRSS12 PTCH1 PTCHD1 PTEN PTPN11 PUS1 PVRL1 PYCR1 RAB18 RAB27A RAB39B RAB3GAP1 RAB3GAP2 RAB40AL RAD21 RAF1 RAI1 RARS2 RELN REPS2 RFT1 RMND1 RNASEH2A RNASEH2B RNASEH2C ROGDI RPGRIP1L RPS6KA3 SALL1 SATB2 SC5D SCN1A SCN2A SCN8A SCO2 SDHA SERAC1 SETBP1 SHH SHOC2 SHROOM4 SIL1 SIX3 SKI SLC12A6 SLC16A2 SLC17A5 SLC25A15 SLC25A22 SLC2A1 SLC35C1 SLC4A4 SLC6A8 SLC9A6 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMC1A SMC3 SMCX SMOC1 SMPD1 SMS SNAP29 SOBP SOS1 SOX10 SOX2-OT SOX3 SPRED1 SRCAP SRD5A3 SRPX2 ST3GAL3 STIL STRA6 STXBP1 SUOX SURF1 SYNGAP1 SYP SYN1 SYT14 TAT TBC1D24 TBCE TBX22 TCF4 TECR TGFBR1 TGFBR2 THRB TIMM8A TMCO1 TMEM165 TMEM231 TMEM237 TMEM67 TRAPPC9 TREX1 TRPC5 TSC1 TSC2 TSPAN7 TTC8 TUBA1A TUBB2B TUSC3 UBE2A UBE3A UBR1 UPB1 UPF3B VPS13B WDR62 XPA ZDHHC9 ZEB2 ZIC2 ZNF41 ZNF592 ZNF674 ZNF711 ZNF81 |
| Leigh syndrome | BCS1L C12orf65 COX10 COX15 EARS2 ECHS1 FARS2 FOXRED1 GFM1 HIBCH LRPPRC MTFMT MT-ATP6 MT-ND1 MT-ND2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TV MT-TW NDUFA1 NDUFA9 NDUFA10 NDUFA11 NDUFA2 NDUFA4 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 PET100 PDHA1 PDHB PDSS2 POLG SCO2 SDHA SDHAF1 SERAC1 SUCLA2 SUCLG1 SURF1 TACO1 TTC19 UQCRQ |
| Progressive familial intrahepatic cholestasis | ATP8B1 ABCB11 ABCB4 TJP2 |
| Macrocephaly | ASPA BRAF CA2 CDKN1C CLCN7 D2HGD FGFR3 FMR1 GCDH GFAP GPC3 HEXA HRAS IDS IDUA KRAS L1CAM LRP5 MEK1 MEK2 MLC1 NF1 NSD1 OSTM1 PLEKHM1 PTEN PTPN11 RAF1 SOS1 TCIRG1 TNFSF11 VG5Q |
| Skeletal dysplasia | ACAN ACVR1 ADAMTS10 ADAMTSL2 AGPS ALPL ALX4 ANKH ARSE BMPR1B CA2 CASR CHST3 CLCN7 COL10A1 COL11A1 COL11A2 COL1A1 COL1A2CRTAP COL2A1 COL9A1 COL9A2 COL9A3 COMP CRTAP CTSK CUL7 CXORF5 DDR2 DHCR24 DHPAT DLL3 DLX3 DTDST DYM DYNC2H1 EBP EFNB EIF2AK3 ESCO2 EVC1 EVC2 EXT1 EXT2 FBN1 FGF10 FGF23 FGF9 FGFR1 FGFR2 FGFR3 FLNA FLNB GDF5 GDF5COMP GJA1 GLI3 GNAS1 HOXA11 HOXD13 HSPG2 IFT80 IHH IKBKG LBR LEMD3 LEPRE LFNG LIFR LMBR1 LMNA LMX1B LRP5 MATN3 MESP2 MGP MMP13 MMP2 MSX2 NEMO NOG NPR2 OSTM1 P63 PAPSS2 PCTN2 PEX7 PHEX PLOD2 POR PPIB PTHR1 RANKL RECQL4 RMRP ROR2 RUNX2 SALL1 SALL4 SBDS SCYL1BP1 SEDL SHH SHOX SLC34A3 SMARCAL1 SOST SOX9 TBCE TBX15 TBX3 TBX4 TBX5 TBXAS1 TCIRG1 TGFB1 TMEM16E TNFRSF11A TNFRSF11B TNFSF11 TP63 TRIP11 TRPS1 TRPV4 TWIST1 WISP3 WNT3 WNT7A ZMPSTE24 |
| Congenital Disorders of Glycosylation | ALDH18A1 ALDOB ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ATP6V0A2 B3GALTL B3GNT1 B4GALT1 BSCL2 CACNA1C CANT1 CDH3 CEP290 CHRNE CHST14 CHSY1 CNTN4 COG1 COG4 COG5 COG6 COG7 COG8 COL1A1 COL1A2 CSF2RA DAG1 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 EIF2AK3 F13A1 FBN1 FBN2 FGA FGF10 FGFR1 FGG FKRP FKTN G3GALNT2 G6PC3 GARS GDNF GFPT1 GH1 GMPPB GPR143 GPR98 IFNGR1 IFNGR2 IL12B IL12RB1 ISPD ITGB2 JAM3 LARGE LHCGR LMNA LRP2 LRP5 MBTPS2 MGAT2 MOGS MPDU1 MPI MYOC NEU1 NGLY1 NRXN1 NTRK2 P2RX1 PDE4D PGM1 PIGN PKD1 PKHD1 PMM2 PMP22 POMGNT1 POMGNT2 POMT1 POMT2 PRKAG2 PSAP PYCR1 RELN RET RFT1 RHO RNASET2 RPGR SEC23B SERPINA7 SERPINC1 SGK196 SHH SI SIL1 SLC10A2 SLC26A4 SLC35A1 SLC35A2 SLC35C1 SLC4A1 SLC4A11 SLC5A7 SPINK5 SPINT2 SRD5A1 SRD5A3 STAT1 STT3A STT3B SYNE1 TGFBR1 TMEM15 TMEM165 TMEM5 TSHR TYR VPS45A VWF WFS1 |
| Joubert syndrome | AHI1 ARL13B C5orf42 CC2D2A CEP290 (NPHP6) CEP41 INPP5E KIF7 NPHP1 OFD1 RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 (MKS3) |
| Hypohydrotic Ectodermal dysplasia | EDA EDAR EDARADD |
| Arrhythmogenic Right Ventricular Dysplasia | DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM43 |