Arterial Tortuosity Syndrome; Ats

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB, SDHC, SEMA4A, SGSH, SHH, SIX6, FOXL2, SLC16A1, SLC22A4, SLC22A5, SLC24A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BRCA1, SLC34A1, SLC35A1, SLC3A1, SLC9A3R1, SLC9A6, SMPD1, SNCB, SOD1, SOD2, SOX2, BTD, SPG7, SPR, SPTLC2, SQSTM1, STAR, STAT1, STAT3, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, TAT, TAZ, TWNK, HNF1A, HNF1B, ZEB1, TCIRG1, TCN2, TEAD1, TGFB1, TGFBI, ACO2, TIMM8A, TIMP3, TK2, TLR3, TLR4, ACOX1, TNFRSF11A, TNFRSF11B, TNFSF11, TP53, TSFM, TUFM, TULP1, TYR, TYROBP, TYRP1, UBE3A, UCP1, UCP2, UCP3, UNG, UQCRB, USH1C, USH2A, CLRN1, VCP, VHL, BEST1, VSX1, WFS1, WT1, WWOX, XDH, ARL6, LPIN1, RPGRIP1, CA2, CDH23, CA4, SOST, GFM1, CABP4, CACNA1F, MRPS16, ELAC2, SLC25A20, C1QTNF5, HTRA2, SLC25A19, ELOVL4, MRPS22, CDHR1, PINK1, AMN, ABCA12, FYCO1, PCDH15, CASP8, CAT, PRPF31, ANKH, CBS, PUS1, HPS3, KLHL7, ALG9, LRPPRC, HPS4, PRPF6, ABHD12, PANK2, NDUFAF5, RP1L1, APTX, COX4I2, NFU1, USH1G, WHRN, PARK7, TRIM32, LIAS, SLC45A2, KIF1B, MCEE, COQ8A, MFN2, HAX1, HPS5, OPTN, NDUFA13, RIMS1, RRM2B, SP7, DTNBP1, PRPF8, AASS, ADGRV1, SARS2, PDSS1, NT5C3A, INVS, NAGS, MFRP, FKBP10, ALG1, IMPG2, ATP6V0A2, COG7, COG8, RAX, BBS7, ATPAF2, HPS6, NDUFAF1, MMAA, NPHP4, CHAT, MTO1, P3H1, MMAB, KIF21A, ALG12, CHM, RD3, KCNV2, SLC25A22, RDH12, CYCS, TTC8, GLRX5, GPR143, SLC35C1, CACNA2D4, COQ6, CLCN7, NUBPL, NDUFA11, SPATA7, L2HGDH, DHDDS, TPP1, CLN3, TUBA1A, TUBB3, SLC39A13, BCOR, BLOC1S3, AARS2, NDUFAF4, PITPNM3, ABHD5, RARS2, INPP5E, CNGA1, ACAD9, CNGA3, CNGB1, DIABLO, CNGB3, EYS, ADAM9, TSPAN12, OSTM1, TOPORS, CERKL, AGK, COL1A2, COL3A1, COL5A1, COL5A2, FAM20C, COX15, COX6B1, ABAT, LMBRD1, PDSS2, ALG3, ALG6, ALG2, ALG8, CYP4V2, CPOX, CPT1A, ETHE1, CPT2, CRB1, GNE, CRTAP, CRX, CRYAB, NDUFA12, CISD2, GLYCTK, YARS2, BOLA3, DMGDH, MMACHC, FLVCR1, MMADHC, COQ2, CCDC39, CTSD, COQ9, CTSK, TMEM126A, CUBN, TRMU, MTPAP, DARS2, CYB5A, CYBA, REEP1, FAM161A, SRD5A3, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP1B1, TTC19, CYP24A1, SDHAF2, TMEM127, CYP27A1, TMEM70, SLC25A38, CYP27B1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, C12orf65, AMER1, FOXRED1, DBT, C8orf37, DDOST, ACSF3, MSRB3, XPNPEP3, NDUFAF2, CCDC28B, COX14, D2HGDH, TMEM67, DGUOK, NDUFAF6, DHODH, CYB5R3, LEMD3, IQCB1, DLAT, DLD, CEP290, ADSL, FASTKD2, ANKRD26, CC2D2A, UQCRQ, GNPTAB, DNM1L, ISCU, NDUFAF3, BBS9, PPARGC1B, DPM1, DPM3, RFT1, TUSC3, RILP, DSP, DNAJC19, STRA6, PNPLA2, SNRNP200, SECISBP2, TYMP, AFG3L2, LCA5, AGL, EFEMP1, PRCD, AGPS, ELN, ENO3, SDHAF1, ABCA4, AGXT, PCARE, ETFA, ETFB, ETFDH, EYA1, EYA4, ACSL4, FAH, AIPL1, FBLN5, FBN1, FBP1, AK1, AK2, FECH, AKAP10, FH, ATP8B1, FOXC1, FXN, FSCN2, ALAS2, ALDH3A2, FZD4, G6PC, ALDH4A1, SLC37A4, GAA, ALDH5A1, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, ALDOA, GARS, ALDOB, GATM, GBE1, GCDH, GCK, GCKR, ABCB11, OPN1MW, GCSH, GFER, CBLIF, GJA3, ALMS1, GK, GLB1, TAP1, GLDC, GLUD1, GM2A, GNAT1, GNAT2, GNS, GOT1, GPD1, GPD2, GPI, ABCB4, AMACR, GPX1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, GUSB, ABCB6, GYS1, GYS2, AMT, ABCB7, HSD17B10, HADHA, HADHB, HAGH, HARS, HBB, HCCS, HESX1, HEXA, HEXB, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HP, HPRT1, HPS1, HSD17B4, HSD3B2, HSPD1, IDH2, IDH3B, AP3B1, IMPDH1, ABCD1, IVD, JAG1, APP, KARS, KCNJ13, KRT12, KRT3, KRT5, LDHA, LDHB, COG1, ARG1, LMX1B, LRAT, LRP5, MAN2B1, MANBA, MAOA, PHOX2A, MC1R, MCCC1, MCCC2, ME2, MECP2, MEF2A, MEN1, MERTK, MGAT2, MKKS, MKS1, TRPM1, MLYCD, ALDH6A1, MOCS1, MOCS2, MPDU1, MPI, MPV17, SEPT9, MTHFR, ASL, MTR, MTRR, MMUT, MUTYH, ASS1, MYO7A, MYOC, NAGLU, NCOA4, NDP, NDUFA1, NDUFA10, NDUFA2, NDUFA9, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEUROD1, ZFHX3, NHS, NME1, NPHP1, NPHP3, ATIC, NRL, FRMD7, NYX, OAT, OCA2, OCRL, OGDH, OGG1, OPA1, OPA3, ATP5F1E, ACACA, OTC, OTX2, OXCT1, PAH, PRKN, PAX2, PAX6, PC, PCCA, PCCB, ATP7A, ACAD8, ATP7B, PCK2, AIFM1, ALDH7A1, PDE6A, PDE6B, PDE6C, PDE6G, PDHA1, PDHB, SLC26A4, SERPINF1, PFKM, PGAM2, ACADM, AUH, PGM1, PHB, PHKA1, PHKA2, PHKB, PHKG2, PHYH, ACADS, PITX2, PITX3, PLA2G2A, PLOD2, PLOD3, ACADSB, PMM2, PNKD, POLG, POLG2, ACADVL, PPARG, B4GALT1, CTSA, PPIB, PDP1, PPOX, ACAT1, B4GALT7, PPP2R1B, ACAT2, PRKCG, PRODH, PROM1, PSAP, PSEN1, BBS1, BBS2, CAVIN1, PTS, BBS4, BBS5, PYCR1, ALDH18A1, PYGL, PYGM, QDPR, RAF1, BCKDHA, BCKDHB, RB1, OPN1LW, RDH5, PRPH2, RET, RGR

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

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

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ACTB, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15, P2RX2, DIAPH3, ANKH, OSBPL2, ABHD12, STRC, CD151, CD164, USH1G, WHRN, OTOA, NLRP3, SLC4A11, BSND, TMC1, TRIOBP, LARS2, CDC14A, CHSY1, ADGRV1, HOMER2, CCDC50, DCDC2, GIPC3, SLC17A8, POLR1C, CLDN14, POLR1D, CHD7, CLPP, LHFPL5, EPS8L2, DIABLO, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, PNPT1, ADCY1, MYH14, SLITRK6, CRYM, CISD2, CIB2, LRTOMT, ELMOD3, PDZD7, NARS2, MARVELD2, LOXHD1, SYNE4, TPRN, OTOGL, TMEM132E, GRHL2, GSDME, ILDR1, DIAPH1, DLX5, TBC1D24, CEMIP, PJVK, DNMT1, DSPP, TMIE, MIR96, GRXCR1, S1PR2, EDN3, EDNRA, EDNRB, CEACAM16, GRXCR2, EPS8, ERCC2, ERCC3, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, ALMS1, GJB2, GJB6, HARS2, HGF, HOXB1, HSD17B4, TNC, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MANBA, MCM2, MET, MT-TS1, MT-TS2, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NDP, NR2F1, OPA1, ATP2B2, OTOF, OTOG, ATP6V1B1, ATP6V1B2, PAX3, AIFM1, SLC26A4, PEX1, PEX6, SERPINB6, PMP22, POU3F4, POU4F3, SLC26A5, PRPS1, PTPRQ, RDX

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN, OTOA, BSND, TMC1, TRIOBP, LARS2, ADGRV1, CCDC50, GIPC3, CATSPER2, SLC17A8, CLDN14, CLPP, LHFPL5, DIABLO, COCH, COL11A2, COL4A3, COL4A4, COL4A5, MYH14, CRYM, CIB2, LRTOMT, MARVELD2, LOXHD1, TPRN, MSRB3, GRHL2, GSDME, ILDR1, DIAPH1, GPSM2, PJVK, TMIE, GRXCR1, EDN3, EDNRB, CEACAM16, ESRRB, EYA1, EYA4, FOXI1, GJB2, GJB6, HARS2, HGF, HSD17B4, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, MAN2B1, MITF, MT-RNR1, MT-TS1, MYH9, MYO15A, MYO6, MYO7A, OTOF, ATP6V1B1, PAX3, SLC26A4, SERPINB6, POU3F4, POU4F3, SLC26A5, PRPS1, RDX