Segawa Syndrome, Autosomal Recessive

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, OCRL, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, MECP2, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, OTC, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, BTK, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, HBA2, NEB, CTNS, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, CACNA1A, TOR1A, THAP1, GCH1, SGCE, FA2H, CHMP2B, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, AP1S2, TAF1, ERCC6, C19orf12, ADAR, CP, DCAF17, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, GBA, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, PLA2G6, MAPT, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, KIF1A, FA2H, DCTN1, CHMP2B, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, AP1S2, TAF1, ERCC6, C19orf12, ADAR, FTL, CP, DCAF17, CSF1R, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3, VPS35

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2, GAMT, SPR, STXBP1, SUCLA2, COQ8A, HTRA2, CTSD, GRN, PARK7, PINK1, SQSTM1, PDHA1, TIMM8A, MMADHC, HEXA, GM2A, SUOX, PTS, QDPR, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DLAT, L2HGDH, CBS, GCDH, LRPPRC, CYP27A1, PRKN, APTX, TPP1, CLN3, PNKD, TACO1, SLC6A8, PDHX, SDHA, ARSA, ARX, FOXG1, NPC1, NPC2, PLP1, SLC2A1, ATM, CLN6, CLN8, PPT1, TH, MLC1, CLN5, PLA2G6, TOR1A, THAP1, GCH1, SGCE, BSCL2, FA2H, ALS2, ATP1A2, ATP1A3, SLC19A3, SYNJ1, TBC1D24, PRRT2, COL4A1, CTSF, DNAJC5, MFSD8, ATP13A2, GNAO1, WDR45, SCN8A, PNKP, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13A, FUCA1, TAF1, SLC16A2, AARS, NKX2-1, TOR1AIP1, HACE1, IFIH1, C19orf12, TUBB4A, ADAR, FTL, CP, COASY, DCAF17, COX10, CSF1R, TPK1, SLC20A2, FBXO7, EARS2, DDC, SLC6A3, VPS35, XK, TPI1, PRKRA, DNAJC12, MICU1, HEPACAM, COX20, PDGFRB, PDGFB, SERAC1, CLPB, MDH2, KMT2B, MECR, TBCD, UBA5, VAC14, SLC39A14, DNAJC6, GNB1, HIVEP2, ANO3, XPR1, HPCA, KCTD17, LIPT1, ECHS1, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, NUP62

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG, PAX6, PSEN1, INPP5E, AMACR, HSD17B4, CPS1, OPA1, WFS1, PSAP, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290, DLD, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, PANK2, OPA3, MECP2, COQ9, PDSS2, PDSS1, COQ6, ACO2, NDUFA12, HARS, NDUFB3, NDUFA9, COX14, ALDH18A1, PDHB, TMEM70, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, GPI, GAMT, SPR, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, DARS2, TSFM, REEP1, DNAJC19, CTSD, MPDU1, FLVCR1, DPM1, GRN, COQ2, SPG7, ALG6, TYMP, ETHE1, SQSTM1, OTC, PDHA1, ABCB7, SLC9A6, ABCD1, MMADHC, TCN2, HEXA, SUOX, ALDH5A1, HEXB, PHYH, PTS, MPV17, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, HIBCH, DBT, SUCLG1, DLAT, GALC, L2HGDH, GBE1, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, PMM2, MKS1, APTX, ASL, TPP1, WWOX, PNKD, SOD1, TACO1, FARS2, MTFMT, SDHA, PNP, ARSA, CDKL5, EIF2B1, FOXG1, GJC2, NPC1, NPC2, PCDH19, PLP1, SLC2A1, TINF2, WDR62, ATM, MRE11, NF2, SDHD, PRF1, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, SACS, TH, MLC1, PEX1, POMGNT1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PLA2G6, TMEM216, PRX, SH3TC2, MPZ, PMP22, EGR2, DNM2, GJB1, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, AHI1, FKRP, CACNA1A, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SETX, DYNC1H1, VRK1, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, KCNA1, CACNB4, SLC1A3, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, POMGNT2, LARGE1, ATP1A2, ATP1A3, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN2A, SLC6A1, FOLR1, HCN1, KCNQ2, KCNC1, EPM2A, LMNB2, MBD5, SCARB2, TBC1D24, PRRT2, BRAT1, DCX, RELN, TSEN54, ADGRG1, CTSF, DNAJC5, MFSD8, ATP13A2, KCNA2, SNAP25, SLC13A5, ROGDI, SCN8A, SPTAN1, PNKP, KCNJ10, TCF4, OFD1, OPHN1, CASK, CUL4B, GFAP, HTRA1, CLPP, ERCC3, POLR1C, DNMT1, SOX10, SLC19A2, PRPS1, AP1S2, KIAA0586, PEX16, PEX26, PEX10, MVK, NEU1, DKC1, SLC16A2, CLCN2, EXOSC3, TSEN34, TSEN2, NALCN, MME, LRSAM1, GAN, IFT140, CAV1, NKX2-1, FBXL4, GMPPB, PIEZO2, CHMP1A, ERCC6, ERLIN1, KIDINS220, CAPN1, HACE1, MAG, CPT1C, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, CTDP1, PGK1, HNRNPH2, RNASET2, CTC1, GJA1, FTL, CP, ERCC4, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, VLDLR, MARS2, COX10, SCO1, MT-TP, COG4, PRNP, SLC46A1, TPK1, SLC20A2, APOB, ERCC8, LIG4, GCLC, GSS, SLC39A4, ADA2, SLC25A46, PGM3, TCTN3, SAMD9L, KIAA0556, CEP104, CEP120, TMEM107, PDE6D, CSPP1, HERC1, HEPACAM, DNAJC3, LRP4, TUBB, IBA57, ARL6IP1, CCDC88C, CA8, ZIC1, XRCC4, SEPSECS, TBCE, COX20, MECR, UBA5, NUP62, AAAS, NAXE, RARS, ATP8A2, ATP2B3, CTBP1, CACNA1G, CAMTA1, BEAN1, ATCAY, DOCK3, COL18A1, EBF3, SLC52A2, LAMA1, GRID2, NOL3, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RTN4IP1, RNASEH1, RNF216, SCYL1, ERCC5, RNF168, SLC6A19, TELO2, TRPC3, TDP2, VARS, ZIC4, NAT8L, OTUD4, PUM1, STUB1, ARV1, DGAT2, FGF12, ITM2B, LMNB1, YME1L1, MAPK10, SLC9A1, SLC52A3, COQ4, RUBCN, PMPCA, UROC1, TRNT1, XPA, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, PET100, PRDM8, CHCHD10, APOPT1, SNX14, TMEM240, WDR73, CWF19L1, VWA3B, THG1L, CHAMP1, PIGG

POLG, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1, FTL, CSF1R, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6, EIF4G1, ADH1C, GIGYF2, PDXK, SNCAIP

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2, VPS13A, ACTB, TAF1, TUBB4A, FTL, DDC, MR1, DRD2, SLC6A3, PRKRA, ANO3, HPCA, KCTD17, BCAP31, GNAL, SLC30A10, CACNA1B

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, MMACHC, PRKCG, APP, PSEN1, TUBB3, SDHAF2, AMACR, HSD17B4, CPS1, CPT2, OPA1, TRMU, WFS1, PSAP, ELOVL4, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, ALAS2, MFN2, SDHC, PANK2, OPA3, VCP, MECP2, MTO1, COQ9, PDSS2, PDSS1, COQ6, NDUFA12, NDUFB3, NDUFA9, COX14, AGK, ALDH18A1, DGUOK, BOLA3, PDHB, TMEM70, SARS2, NFU1, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, KARS, GFER, TMEM126A, SLC25A12, GAMT, SPR, COX4I2, SDHB, STXBP1, SUCLA2, COQ8A, MRPS22, RARS2, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, REEP1, DNAJC19, POLG2, TK2, SLC25A22, GFM1, PDP1, ALG2, GRN, NDUFA13, COQ2, SPG7, PARK7, PCCB, PCCA, PINK1, GLDC, SCO2, GAD1, TYMP, ETHE1, SQSTM1, PUS1, OTC, PDHA1, TIMM8A, TAZ, ABCB7, AIFM1, ABCD1, ABHD5, HEXA, ALDH3A2, HEXB, PHYH, ALDH7A1, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, SUCLG1, DLAT, GALC, IVD, SLC25A15, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, ASL, SLC25A38, TPP1, CLN3, KIF21A, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, DPAGT1, MGME1, ARSA, ASPA, ARX, GBA, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, NPC1, NPC2, PCDH19, PLP1, SLC2A1, SYNGAP1, ATM, MRE11, SDHD, CHRNE, CLN6, CLN8, DOK7, MTTP, PEX2, PPT1, PEX7, SACS, TH, MLC1, MCOLN1, PEX1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PHGDH, PLA2G6, RAPSN, GDAP1, DNM2, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, NOTCH3, PPP2R2B, CACNA1A, TOR1A, THAP1, GCH1, LRRK2, SGCE, SNCA, CASR, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, RYR1, SETX, CHMP2B, TARDBP, UBQLN2, MTM1, BICD2, SYNE1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, ANO10, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, DPM2, CHKB, COL6A3, ATP1A2, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN1B, SCN2A, SYNJ1, STX1B, FOLR1, GABRD, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, LMNB2, MBD5, KCNMA1, SCARB2, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, COL4A1, QARS, RELN, TSEN54, ATP13A2, HNRNPU, SPATA5, EEF1A2, SIK1, SNAP25, SLC13A5, DOCK7, WDR45, SCN8A, DYRK1A, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, RNASEH2A, RNASEH2C, RNASEH2B, ARHGEF9, KDM5C, TREX1, GFAP, VPS13A, CLPP, POLR1C, PNPT1, NLRP3, DNMT1, SOX10, SLC19A2, LARS2, PEX6, NARS2, FUCA1, CACNA1C, CHD8, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, HCFC1, LAMP2, TAF1, SLC16A2, CLCN4, CLCN2, EXOSC3, TUBB2A, MARS, TFG, GAN, LYST, TBK1, NKX2-1, FBXL4, DNA2, HNRNPDL, TOR1AIP1, GMPPB, MYBPC1, ERLIN1, REEP2, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, STAMBP, FDX2, ACTG2, RNASET2, CCT5, GJA1, NBAS, FTL, CP, COASY, DCAF17, MARS2, COX10, SCO1, CSF1R, PRNP, TPK1, FBXO7, EARS2, MR1, SLC6A3, HADH, APOB, ABCA1, EIF2AK3, VPS35, COQ8B, XK, RANBP2, PRKRA, EPG5, SLC25A46, MICU1, HEPACAM, DNAJC3, PREPL, LRP4, ALG14, IBA57, ARL6IP1, GRIK2, KCNH5, XRCC4, AMPD2, SEPSECS, PYCR2, SLC1A4, PDGFB, SERAC1, CLPB, UBA5, ANO3, HPCA, KCTD17, ECHS1, GNAL, ADCY5, SLC30A10, ACY1, AAAS, RARS, ATP8A2, CACNA1G, SLC52A2, GRID2, NOL3, PIK3R5, PTRH2, RNASEH1, RNF216, SLC6A19, STUB1, DGAT2, LMNB1, SLC52A3, COQ4, RUBCN, PMPCA, TRNT1, POLR3A, POLR3B, PRDM8, CHCHD10, APOPT1, SNX14, PSAT1, RETREG1, FAM126A, COL4A2, NOP56, GLRB, GLRA1, SLC6A5, CIZ1, PDE8B, GPHN, TALDO1, UQCRC2, AIMP1, CLP1, EXOSC8, CACNA1B, NPRL3, ATP5F1A, LARS, CAD, CARS2, ATP2B4, NDUFB9, ZFR, WDR48, USP8, ARSI, LYRM7, ISCA2, FLAD1, ARHGEF15, COX8A, GTPBP3, IARS2, COQ7, NDUFB11, MRPL44, MRPS7, PARS2, TRMT5, TARS2, VARS2, RMND1, TRIT1, LONP1, TANGO2, CCDC115, FLRT1, SLC25A42, KCNA4, SLC25A26, GTPBP2, PPT2, PODXL, STAT2, TXN2, VPS11, PTCD1, KLC4, PITRM1

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B

SPR, HTRA2, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, FUS, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1, FTL, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6, SLC30A10, GIGYF2, TMEM230

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR, DARS2, REEP1, SPG7, GAD1, ABCB7, ABCD1, HEXA, NDUFV1, GALC, SLC25A15, GBE1, CYP27A1, SOD1, NEFH, FARS2, GBA, GJC2, PLP1, SACS, TH, PLA2G6, FIG4, TRPV4, HSPB8, HSPB1, DNM2, ATL1, ZFYVE26, SPG11, C9orf72, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, BICD2, HSPB3, VRK1, IGHMBP2, VAMP1, PDYN, ASAH1, PQBP1, RAB3GAP1, GFAP, SOX10, SLC16A2, CLCN2, MARS, PLEKHG5, TFG, GAN, LYST, ERLIN1, REEP2, HACE1, MAG, CPT1C, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, CCT5, COASY, VEGFA, IBA57, ARL6IP1, CCDC88C, AMPD2, SLC1A4, GRID2, STUB1, FAM126A, AIMP1, HNRNPA2B1, HNRNPA1, KANK1, ARHGEF28, ATP2B4, ARSI, FLRT1, KLC4, VPS54, ADD3, PRPH

FMR1, PTEN, COMT, POLG, PANK2, SPR, HTRA2, GRN, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, ZFYVE26, SPG11, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, TAF1, C19orf12, FTL, PDE10A, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6, SLC30A10, EIF4G1, PDE8B, PODXL, DNAJC13, CHCHD2, PRKAR1B, RAB29, ASNA1, VPS13C, TENM4

FMR1, COMT, POLG, GRN, TH, PLA2G6, ZFYVE26, SPG11, MAPT, C9orf72, ATXN2, ATXN3, GCH1, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, RAB39B, FTL, FBXO7, DNAJC6, SLC30A10, PDE8B

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM, TH, MLC1, PLA2G6, CLCN1, TOR1A, THAP1, GCH1, SGCE, ALS2, DCTN1, COL6A3, ATP1A3, SLC19A3, KCNMA1, PRRT2, VPS13A, TAF1, KIF1C, TUBB4A, FTL, CSF1R, PRKRA, COX20, ANO3, HPCA, KCTD17, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, CIZ1, CACNA1B, MED20

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2, RELN, GNAO1, ACTB, TAF1, TUBB4A, DRD2, SLC6A3, PRKRA, SLC25A1, TBCE, SLC39A14, ANO3, HPCA, KCTD17, GNAL, ADCY5, SLC30A10, CACNA1B

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3

ABAT, SPR, SLC25A22, GCSH, GLDC, AMT, GAD1, MAOA, ALDH5A1, ALDH7A1, PTS, QDPR, TH, PHGDH, GCH1, PNPO, ARHGEF9, DBH, DDC, SLC6A3, PCBD1, PSPH, PSAT1, GLRB, GLRA1, SLC6A5, GPHN

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13, PANK2, PDHB, HMGCL, TAT, GAMT, GATM, SPR, PDP1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, ETHE1, OTC, PDHA1, ABCD1, MMADHC, LMBRD1, ALDH5A1, ALDH7A1, PTS, QDPR, PAH, CUBN, GIF, GUSB, SGSH, MOCS1, MMAB, MMAA, MUT, DBT, MAN2B1, DLAT, OXCT1, IVD, SLC25A15, NAGS, CBS, ETFB, ETFA, ETFDH, GCDH, ASS1, CYP27A1, ASL, TPP1, SLC6A8, PDHX, AGA, ARSA, DHCR7, GLA, IDS, IDUA, LIPA, NPC1, NPC2, SLC2A1, TH, PHGDH, GCH1, SLC19A3, PNPO, CP, PCBD1, PSPH, PSAT1, PPM1K

COMT, POLG, SPR, HTRA2, PARK7, PINK1, PRKN, GBA, TH, PLA2G6, MAPT, ATXN2, ATXN3, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, SYNJ1, ATP13A2, ATP6AP2, TAF1, UCHL1, FTL, FBXO7, SLC6A3, VPS35, PRKRA, DNAJC6, SLC30A10, EIF4G1, GIGYF2, DNAJC13, PRKAR1B, RAB29, SLC18A2

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1, DLAT, L2HGDH, GCDH, FASTKD2, CYP27A1, PRKN, APTX, PNKD, PDHX, ARSA, ARX, FOXG1, NPC2, PLP1, SLC2A1, ATM, TH, MCOLN1, PLA2G6, CACNA1A, TOR1A, THAP1, GCH1, SGCE, FA2H, CHMP2B, COL6A3, ATP1A2, ATP1A3, SLC19A3, KCNQ2, PRRT2, ATP13A2, WDR45, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, PNPT1, AP1S2, TAF1, ERCC6, C19orf12, ADAR, VPS37A, CP, DCAF17, TREM2, DRD5, SLC46A1, TPK1, SLC20A2, MAT1A, FBXO7, EARS2, DDC, MR1, DRD2, SLC6A3, PDGFRB, SERAC1

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7

TYROBP, APP, PSEN1, POLG, HTRA2, GRN, PARK7, PINK1, PRKN, SNCB, GBA, TH, PLA2G6, PSEN2, MAPT, APOE, GCH1, LRRK2, SNCA, DCTN1, ATP1A3, ATP13A2, DNMT1, TAF1, UCHL1, ACE, CSF1R, TREM2, PRNP, FBXO7, SLC6A3, VPS35, A2M, PRKRA, AAAS, EIF4G1, MPO

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS, TH, ATL1, ZFYVE26, SPG11, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, PNPLA6, KIF1A, CYP7B1, FA2H, SPART, ALS2, SETX, KDM5C, CTNNB1, SLC16A2, CAPN1, HACE1, C19orf12, B4GALNT1, GBA2, CYP2U1, DDHD2, DDHD1, AP4S1, AP4B1, AP4E1, AP4M1, COASY, MARS2, IBA57, RARS, DARS, ATAD3A

SPR, PARK7, PINK1, PRKN, TH, PLA2G6, MAPT, GCH1, LRRK2, SNCA, ATP1A3, SYNJ1, ATP13A2, VPS13A, SLC20A2, FBXO7, SLC6A3, VPS35, PRKRA, PDGFRB, PDGFB, DNAJC6

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, SLC26A4, FAH, G6PC, MPI, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, CLN8, LAMB3, FKTN, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1