Smith-magenis Syndrome; Sms

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

RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD, ATL1, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, ACO2, TIMM8A, TK2, TSFM, TUFM, UNG, UQCRB, UQCRC2, WFS1, WWOX, YWHAE, GFM1, MRPS16, ELAC2, SLC25A20, HTRA2, SLC25A19, MRPS22, PINK1, PUS1, CHCHD10, LRPPRC, PANK2, NDUFAF5, SAMHD1, GDAP1, APTX, SFXN4, MGME1, COX4I2, SLC19A3, NFU1, PARK7, LIAS, KIF1B, MRPL44, MCEE, COQ8A, MFN2, LARS2, RRM2B, TPK1, SARS2, PDSS1, NAGS, SPART, ATPAF2, NDUFAF1, MMAA, COQ8B, MTO1, MMAB, DDHD1, SLC25A22, CYCS, GLRX5, COQ6, NUBPL, NDUFA11, L2HGDH, CLPP, AARS2, NDUFAF4, SERAC1, FARS2, RMND1, PDHX, LYRM4, RARS2, ACAD9, DIABLO, MPC1, AGK, COX10, COX15, COX6B1, COX7B, PDSS2, PNPT1, CPT1A, ETHE1, CPT2, CRAT, NDUFA12, CISD2, YARS2, TACO1, BOLA3, DMGDH, MARS2, HOGA1, MMADHC, COQ2, COQ9, TMEM126A, TRMU, MTPAP, DARS2, REEP1, CYC1, CEP89, TTC19, SDHAF2, CYP27A1, TMEM70, SLC25A38, C12orf65, FOXRED1, COX20, DBT, IBA57, DECR1, XPNPEP3, NDUFAF2, COX14, D2HGDH, DGUOK, NDUFAF6, DHODH, CYB5R3, DLAT, DLD, FASTKD2, DNA2, EARS2, UQCRQ, MTFMT, DNM1L, ISCU, NDUFAF3, COASY, DNAJC19, FDX2, PNPLA2, TYMP, AFG3L2, COA5, SDHAF1, ERCC6, ETFA, ETFB, ETFDH, FBP1, AK2, FH, FXN, ALAS2, PET100, ALDH4A1, GAMT, GARS, GATM, GCDH, GCK, GCSH, GFER, GK, GLDC, GLUD1, AMACR, AMT, HADH, ABCB7, HSD17B10, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HSPD1, IDH1, IDH2, IDH3B, IVD, KARS, KIF5A, MAOA, MCCC1, MCCC2, MLYCD, ALDH6A1, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TL1, MT-TL2, MT-TS1, MT-TS2, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OAT, OGDH, OPA1, OPA3, ATP5F1A, ATP5F1E, OTC, OXCT1, PRKN, PC, PCCA, PCCB, ACAD8, PCK2, AIFM1, PDHA1, PDHB, PDK3, ACADM, AUH, ACADS, ACADSB, PNKD, POLG, POLG2, ACADVL, PDP1, PPOX, ACAT1, SLC33A1, BCAT2, BCKDHA, BCKDHB