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Společnost lékařské genetiky a genomiky
České lékařské společnosti Jana Evangelisty Purkyně, z. s.

Molekulárně-genetická laboratoř

NázevFakultní nemocnice Ostrava
OdděleníOddělení lékařské genetiky, Laboratoř DNA diagnostiky
IČO00843989
Adresa17. listopadu 1790
Ostrava
70852
Telefon597 373 202
Web https://www.fno.cz/oddeleni-lekarske-genetiky/dna-laborator
E-mailalfons.balcar@fno.cz, sylwia.walczyskova@fno.cz, pavlina.plevova@fno.cz
Kontaktní osoba
Akreditace ČIA8233
Poznámky
Poslední aktualizace:6. září 2022
ID pro editaci:MG56

Prováděná vyšetření

Název Gen MIM OrphaCode EQA REF
Def. faktoru II, protrombinu, 20210G-A polymorfismus F2 176930
Šárka Hilscherová
Sy. Gilbert UGT1A1 143500
Bc. Monika Kudrejová
Def. faktoru V APC, F5, G169A 227400
Šárka Hilscherová
Delece v AZF na Y chromozomu (sterilita u mužů) AZFa,b,c 415000
Mgr. Lucie Faldynová
Def. alfa-1-antitrypsinu SERPINA1 107400
Šárka Hilscherová
Hemochromatóza HFE 235200
Šárka Hilscherová
Spinální muskulární atrofie typ I SMN1 253300
RNDr. Hana Kolaříková
Hemoglobinopatie HBB 141900
Bc. Monika Kudrejová
Hereditární pankreatitida PRSS1, PRSS1, SPINK1, CFTR 167800
X
Tiopurinová S-Metyltransferáza TPMT 610460
Bc. Monika Kudrejová
Angelmanův syndrom ANCR, UBE3A 105830
Mgr. Adéla Mikošková
Sy. Prader-Willi, PWS PWCR 176270
Mgr. Adéla Mikošková
Obezita 16q12.2 601665
Mgr. Adéla Mikošková
Sy. DiGeorge/CATCH22/ DGS 188400
Mgr. Adéla Mikošková
Cystická fibróza CFTR 219700
RNDr. Hana Kolaříková, Bc. Monika Kudrejová
Aneuploidie chromozomů 13,18, 21, X a Y metodou QF PCR QF PCR 900013
RNDr. S. Walczysková, Mgr. L. Faldynová, ...

NGS panely

Alportův syndrom, 6 genů (6)
CFHR5, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
Kontaktní osoba: MUDr. Pavlína Plevová, Ph.D.
AR hydrocefalus (20)
B3GALNT2, B4GAT1, CCDC88C, CRB2, DAG1, FKRP, FKTN, FLNA, FLVCR2, ISPD, LARGE1, MPDZ, POMGNT1, POMGNT2, (POMK), POMT1, POMT2, PTEN, SGK196, WDR81.
Kontaktní osoba: RNDr. Sylwia Walczysková
Familiární cerebrální kavernózní malformace (3)
CCM1/KRIT, CCM2, PDCD10
Kontaktní osoba: Mgr. Jana Indráková
Hereditární nádorové syndromy a somatické varianty v nádorových tkáních (154)
ACD, AIP, AKT1, ALK, APC, AR, ARID1A, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRF1, BRIP1, CCND1, CCNE1, CDC73, CDH1, CDK12, CDK4, CDK6, CDKN1B, CDKN2A, CHEK1, CHEK2, CTNNB1, CYLD, DDR2, DICER1, DLST, EGFR, EMSY, ENG, EPCAM, ERBB2, ERBB3, ERCC2, ERCC3, ERG, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FGFR1, FGFR2, FGFR3, FH, FLCN, FOXL2, GREM1, H3F3A, HNF1A, HOXB13, HRAS, IDH1, IDH2, KIF1B, KIT, KLC1, KLLN, KRAS, MAD2L2, MAX, MC1R, MEN1, MET, MITF, MLH1, MLH3, MN1, MRE11, MSH2, MSH3, MSH6, MSR1, MTOR, MUTYH, NBN, NF1, NF2, NRAS, NTHL1, NTRK1, NTRK2, NTRK3, PALB2, PARP1, PARP2, PDGFB, PDGFD, PDGFRA, PDGFRB, PIK3CA, PML, PMS2, POLD1, POLE, POT1, PPP2R1A, PPP2R2A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RB1, RECQL, RECQL4, RET, RNF43, ROS1, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRY, STK11, SUFU, TERF2IP, TERT, TMEM127, TMPRSS2, TOE1, TOP2A, TP53, VHL, WRN, WT1, XPA, XRCC2, XRCC3
Kontaktní osoba: Mgr. Lucie Faldynová, MUDr. Pavlína Plevová, Ph.D., Ing. Johana Kollárová, Ph.D.
Hypercholesterolemie (10)
ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, LPL, PCSK9, STAP1
Kontaktní osoba: RNDr. Hana Kolaříková, Ing. Radka Sítková
Malý vzrůst, idiopatický (2)
FGFR3, SHOX
Kontaktní osoba: Ing. Petra Cibulková, MBA, RNDr. Hana Kolaříková
Mentální retardace a mikrocefalie (678)
AARS1, ABCA2, ACBD5, ACSL4, ACTB, ACTL6B, ADAR, ADARB1, ADAT3, ADNP, AFF2, AGA, AGTPBP1, AHDC1, AIFM1, AIMP1, AIMP2, AKT3, ALDH3A2, ALG1, ALG11, ALG12, ALG13, ALG3, ALG9, ALKBH8, AMPD2, ANK3, ANKLE2, ANKRD11, AP1S2, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, ARCN1, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARNT2, ARSE, ARV1, ARX, ASH1L, ASNS, ASPM, ASXL1, ASXL3, ATAD3A, ATP6AP2, ATP6V1A, ATR, ATRIP, ATRX, AUTS2, B3GALNT2, B3GNT1, BCAP31, BCL11A, BCL11B, BPTF, BRAT1, BRD4, BRF1, BRPF1, BRWD3, BUB1B, C12orf4, CA8, CACNA1B, CACNA1G, CACNG2, CAMK2A, CAMK2B, CAMK2G, CAMTA1, CARS1, CASK, CC2D1A, CCDC22, CCDC32, CCDC47, CCDC88C, CCND2, CD96, CDC45, CDC6, CDH15, CDK16, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CDT1, CENPE, CENPF, CENPJ, CENPT, CEP135, CEP152, CEP63, CEP85L, CHAMP1, CHD2, CHD3, CHD7, CHMP1A, CIC, CIT, CKAP2L, CLCN4, CLIC2, CLP1, CLTC, CNKSR2, CNNM2, CNOT1, CNOT3, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COL4A1, COL4A3BP, COPB2, COX7B, CRADD, CRBN, CREBBP, CRIPT, CSNK2A1, CTCF, CTNNA2, CTNNB1, CTU2, CUL4B, CUX1, CXorf56, CYFIP2, DAG1, DCPS, DCX, DDX11, DDX3X, DEAF1, DENND5A, DHCR7, DHX37, DIAPH1, DISP1, DLG3, DLG4, DLL1, DMXL2, DNA2, DNM1L, DNMT3A, DONSON, DPAGT1, DPF2, DPM1, DPP6, DYNC1H1, DYNC1I2, DYRK1A, EBF3, EBP, EDC3, EEF1A2, EFTUD2, EHMT1, EIF2S3, EIF3F, ELP2, EMC1, EMX2, EP300, EPB41L1, EPG5, ERCC1, ERCC2, ERCC3, ERLIN2, ETHE1, EXOC7, EXOSC3, EXOSC8, EXOSC9, EXT2, FAM50A, FAR1, FARSA, FARSB, FBXL3, FBXL4, FBXO31, FGD1, FGF8, FGFR1, FH, FKRP, FKTN, FLVCR2, FMN2, FMR1, FOXG1, FOXH1, FOXP1, FREM1, FRMD4A, FRMPD4, FTO, FTSJ1, FUT8, GABBR2, GABRB2, GAD1, GALNT2, GAS1, GATAD2B, GDI1, GEMIN4, GLDC, GLI2, GLYCTK, GMNN, GMPPA, GMPPB, GNAO1, GNB1, GOT2, GPC3, GPT2, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM7, GSPT2, GTF2E2, GTF2H5, GTPBP2, HACE1, HCCS, HCFC1, HDAC6, HDAC8, HERC2, HHAT, HIVEP2, HMGB3, HNMT, HNRNPH2, HNRNPU, HPDL, HPRT1, HS6ST2, HSD17B10, HUWE1, IARS1, IER3IP1, IFIH1, IFT122, IGBP1, IGF1, IGF1R, IL1RAPL1, IMPA1, INPP5E, INTS8, IQSEC2, ISPD, KANSL1, KAT6A, KAT6B, KATNB1, KCNA4, KCNQ5, KCNT1, KDM5B, KDM5C, KIAA1109, KIF11, KIF14, KIF1A, KIF2A, KIF4A, KIF5C, KIFBP, KIRREL3, KLF8, KLHL15, KLHL7, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, L1CAM, LAGE3, LAMB1, LARGE1, LARP7, LAS1L, LIG4, LINGO1, LINS1, LMAN2L, LMNB1, LMNB2, MAB21L1, MACF1, MAGT1, MAN1B1, MAOA, MAP11, MAP1B, MAPRE2, MAST1, MBD5, MBOAT7, MCM5, MCPH1, MECP2, MED12, MED13, MED13L, MED17, MED23, MED25, MEF2C, MEIS2, METTL23, METTL5, MFF, MFSD2A, MID1, MID2, MIR17HG, MOCS1, MORC2, MPDZ, MPLKIP, MSL3, MSMO1, MTHFS, MTX2, MYCN, MYMK, MYO18B, MYT1L, NAA10, NAA15, NADK2, NALCN, NANS, NARS1, NBEA, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NDST1, NEXMIF, NGLY1, NHEJ1, NIN, NIPBL, NKAP, NLGN3, NLGN4X, NODAL, NONO, NRXN1, NSDHL, NSMCE2, NSUN2, NT5C2, NTNG2, NUP107, NUP133, NUP188, NUP37, NUS1, OCLN, OGT, OPHN1, ORC1, ORC4, ORC6, OSGEP, OTC, PACS1, PAFAH1B1, PAK3, PARS2, PCDH12, PCGF2, PCLO, PCNT, PDE2A, PDHA1, PGAP1, PGAP2, PGAP3, PGK1, PHC1, PHF6, PHF8, PHGDH, PIGG, PIGN, PIGO, PIGV, PIGY, PIK3R2, PLAA, PLEKHG2, PLK4, PLP1, PMM2, PNKP, POC1A, POGZ, POLA1, POLR1A, POLR2A, POMGNT1, POMK, POMT1, POMT2, PORCN, PPP1R15B, PPP2CA, PPP2R1A, PPP2R5D, PQBP1, PRMT7, PRSS12, PRUNE1, PSAT1, PSMD12, PSPH, PTCH1, PTCHD1, PTPN23, PURA, PUS7, PYCR2, QARS, QRICH1, RAB11B, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAD21, RAD50, RARS1, RARS2, RBBP8, RBM10, RBMX, RELN, RFT1, RHOBTB2, RIC1, RLIM, RNASEH2A, RNASEH2B, RNASEH2C, RNF113A, RNF13, RNU4ATAC, RPL10, RPS23, RPS6KA3, RSRC1, RTTN, RUSC2, RXYLT1, SAMHD1, SARS1, SASS6, SCN1A, SCN2A, SCN3A, SEMA3E, SEPSECS, SET, SETBP1, SETD5, SF3B4, SHANK3, SHH, SHROOM4, SIN3A, SIX3, SLC12A6, SLC16A2, SLC1A2, SLC1A4, SLC25A19, SLC2A1, SLC35A2, SLC35C1, SLC5A6, SLC6A17, SLC6A8, SLC9A6, SLC9A7, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMG9, SMPD4, SMS, SNAP29, SNRPB, SOBP, SON, SOX11, SOX3, SOX4, SOX5, SPATA5, SPOP, SPTAN1, SRCAP, SRPX2, SSR4, ST3GAL3, STAG1, STAG2, STAMBP, STIL, STT3A, STT3B, STXBP1, SVBP, SYN1, SYNGAP1, SYP, TAF1, TAF13, TAF2, TAF6, TARS1, TASP1, TBC1D20, TBC1D23, TBCD, TBCK, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TDP2, TECPR2, TECR, TELO2, TGIF1, THOC2, THOC6, TIMM8A, TLK2, TMCO1, TMEM165, TMTC3, TMX2, TNIK, TOE1, TOP3A, TP53RK, TPRKB, TRAIP, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIO, TRIP12, TRMT1, TRMT10A, TRRAP, TSEN15, TSEN2, TSEN34, TSEN54, TSPAN7, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUSC3, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBR7, UBTF, UFC1, UFM1, UGP2, UNC80, UPB1, UPF3B, USP27X, USP9X, VARS1, VLDLR, VPS11, VPS13B, VPS51, VPS53, VRK1, WASHC4, WDFY3, WDR13, WDR37, WDR4, WDR45B, WDR62, WDR73, WWOX, XRCC4, YIF1B, YY1, ZBTB11, ZBTB16, ZBTB18, ZC3H14, ZC4H2, ZDHHC15, ZDHHC9, ZEB2, ZIC1, ZIC2, ZMYND11, ZNF148, ZNF292, ZNF335, ZNF711, ZNF81, ZNHIT3, ZSWIM6
Kontaktní osoba: Mgr. Lucie Faldynová, RNDr. Sylwia Walczysková
Neurodegenerativní onemocnění (190)
ABCA7, ADCY5, ADH1C, ALDH18A1, ALOX5, ALS2, ANG, ANO3, ANXA11, APOE, APP, APTX, ATL1, ATM, ATP13A2, ATP1A3, ATP7B, ATXN2, ATXN3, AUH, BCAP31, BSCL2, C19orf12, C9orf72, CACNA1B, CACNA1G, CD36, CHAT, CHCHD10, CHCHD2, CHMP2B, CIZ1, CLU, COASY, COL6A3, CP, CPT1C, CRAT, CSF1R, DAB1, DAO, DCAF17, DCTN1, DDC, DNAJC12, DNAJC13, DNAJC6, DNMT1, DPGFB, EEF2, EIF4G1, ELOVL4, ELOVL5, ERBB4, ERLIN1, FA2H, FAT2, FBXO7, FGF14, FIG4, FTL, FUS, GBA, GCDH, GCH1, GIGYF2, GJC2, GLE1, GLUD2, GNAL, GNAO1, GNE, GRM1, GRN, GTPBP2, HEXA, HEXB, HNRNPA1, HPCA, HPRT1, HSPD1, HTRA1, HTRA2, HTT, IDE, ITM2B, ITPR1, JAM2, KCNC3, KCND3, KCNMA1, KCTD17, KIF1A, KIF1C, KIF5A, KMT2B, LMNB1, LRRK2, MAPT, MATR3, MME, MMUT, MYORG, NEFH, NEK1, NIPA1, NOTCH3, OPTN, PANK2, PANK3, PARK7, PCCA, PCCB, PCNA, PDGFRB, PDYN, PFN1, PICAML, PINK1, PLA2G6, PLD3, PLP1, PNKD, POLG, PRKN/PARK2, PRKRA, PRNP, PRPH, PRRT2, PSEN1, PSEN2, PTS, PUM1, RAB39B, REEP1, RELN, REPS1, RTN2, SCP2, SETX, SGCE, SIGMAR1, SLC18A2, SLC20A2, SLC2A1, SLC30A10, SLC33A1, SLC39A14, SLC6A3, SNCA, SOD1, SPAST, SPG11, SPG7, SPR, SPTBN2, SQSTM1, SS18L1/KIAA0693, STUB1, SYNJ1, TAF1, TARDBP, TBK1, TBP, TGM6, TH, THAP1, TIA1, TIMM8A, TMEM240, TMEM63A, TNK1, TOMM40, TOR1A, TRPC3, TTBK2, TUBA4A, TUBB4A, TYROBP, UBAP1, UBQLN2, UCHL1, VAPB, VCP, VPS13C, VPS35, WASHC5, WDR45, XPR1, ZFYVE27.
Kontaktní osoba: RNDr. Sylwia Walczysková
Onemocnění a vady očí (688)
AAAS, ABCA1, ABCA4, ABCB6, ABCC6, ABHD12, ABHD5, ACBD5, ACO2, ACTB, ACTG1, ADAM9, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL1, AGBL5, AGK, AGPS, AHI1, AHR, AIPL1, ALDH18A1, ALDH1A3, ALMS1, ALX1, ANOS1, AP3B1, AP3D1, APC, APOE, APTX, (AQP0), (ARCC2, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, (ARMD10), ARMS2, ARNT2, ARR3, ARSG, ASB10, ATF6, ATOH7, ATP1A2, ATP1A3, ATXN1, ATXN7, B3GALNT2, B3GALT1, B3GLCT, (B3GNT1), B4GAT1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BDNF, BEST1, BFSP1, BFSP2, BLOC1S3, BLOC1S6, BMP4, BMP7, BRD4, (C10orf11), (C10orf2), C12orf57, C12orf65, C1QTNF5, C2, (C21orf2), (C2orf71), C3, (C5orf42), (C6orf152), C8orf37, C9, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CASK, CC2D2A, (CCDC111), CDH23, CDH3, CDHR1, CENPF, CEP104, CEP164, CEP250, CEP290, CEP41, CEP78, CERKL, CFAP410, CFB, CFH, CFHR1, CFHR3, CFI, CHD7, CHM, CHMP4B, CHN1, CHRDL1, CHST6, (CHX10), CIB2, CISD2, CLCC1, CLDN19, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL17A1, COL18A1, COL25A1, COL2A1, COL4A1, COL4A3, COL8A2, COL9A1, COL9A2, COL9A3, COX7B, CPAMD8, CPLANE1, CPSF1, (CRALBP), CRB1, CRIM1, CRPPA, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CSPP1, CST3, CTC1, CTDP1, CTNNA1, CTNNB1, CTNS, CTPP), CX3CR1, CYP1B1, CYP27A1, (CYP4A11), CYP4A2, CYP4V2, CYP51A1, DAG1, DCN, DCT, DDX58, DDX59, DFNB31), DHCR7, DHDDS, DHX38, DNM1L, DNMBP, DRAM2, DTHD1, DTNBP1, EDN3, EDNRB, EED, EFEMP1, ELOVL4, ELOVL5, ELP1, ELP4, EMC1, EPG5, EPHA2, EYA1, EYS, FAM126A, FAM161A, FAR1, FBLN5, FBN1, FBN2, FGF10, FGF8, FGFR1, FKRP, FKTN, (FLN1), FLNA, FLVCR1, FOXC1, FOXD3, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FRMD7, FSCN2, FTL, FXN, FYCO1, FZD4, FZD5, GALK1, GALT, GCNT2, GDF3, GDF6, GFER, GJA1, GJA3, GJA8, GLI2, GLI3, GLIS3, GMPPA, GMPPB, GNAT1, GNAT2, GNB3, GNPAT, GNPTG, GP1BA, (GPR125), GPR143, GPR179, (GPR98, GRHL2, GRID2, GRIP1, GRK1, GRM6, GSN, GTF2H5, GUCA1A, GUCA1B, GUCY1A1, (GUCY1A3), GUCY2D, GZF1, HARS1, HCCS, HDAC6, HERC2, HESX1, HGSNAT, HK1, HMCN1, HMGB3, HMX1, HOXA1, HPS1, HPS3, HPS4, HPS5, HPS6, HS6ST2, HSF4, HTRA1, HTRA2, HYLS1, IARS2, IDH3B, IFT140, IFT172, IFT27, IFT43, IGBP1, (IKBKAP), IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INVS, IQCB1, (ISPD), ITM2B, ITPR1, JAG1, JAM3, (KAL1), KCNJ13, KCNV2, KERA, (KIAA0196), KIAA0586, KIAA1549, (KIAA1638, KIF11, KIF21A, KIF7, KIP2), KIT, KITLG, KIZ, KLHL7, KMT2D, KRT12, KRT3, LAMA1, LAMB2, LARGE1, LCA5, LCAT, LEMD2, (LEPREL1), LHX3, LHX4, LIM2, LMX1B, LONP1, LOXHD1, LOXL1, LOXL3, LRAT, LRIT3, LRMDA, LRP2, LRP5, LRPAP1, LSS, LTBP2, LYST, LZTFL1, MAB21L2, MAF, MAFB, MAK, MAN2B1, (MATP), MC1R, (MCOPS8), MED25, MERTK, MFN2, MFRP, MIP, MIPEP, MITF, MKKS, MKS1, MLPH, MSMO1, MSTO1, MTPAP, MTTP, MUSK, MVK, MYH9, MYO5A, MYO7A, MYOC, MYRF, NAA10, NDP, NDUFB11, NDUFS1, NEK2, NEUROD1, NF2, NHS, (NKX5-3), NLRP1, NMNAT1, NOTCH2, NPHP1, NPHP13), (NPHP2), NPHP3, NPHP4, (NPHP6), NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCA2, OCRL, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, (OPN2), OPTN, OR2W3, OTX2, OVOL2, P3H2, P4HA2, PABPN1, PANK2, PANK4, (PAP1), PAX2, PAX3, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, (PDZ73), PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHOX2A, PHYH, PIGL, PIK3R1, PIKFYVE, PITPNM3, PITX1, PITX2, PITX3, PLA2G5, PLCB3, PLK4, PMM2, PNKP, PNPLA6, POC1B, POLA1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POU1F1, PPP1CB, PRCD, PRDM13, PRDM5, PRIMPOL, PROKR2, PROM1, PROP1, (PRPF16), PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PRSS56, PTCH1, PUF60, PXDN, RAB18, RAB27A, RAB28, RAB3GAP1, RAB3GAP2, RAPSN, RARB, RAX, RAX2, (RAXL1), RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, (RDS), REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROBO3, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, RXYLT1, RYR1, SACS, SAG, SALL2, SALL4, SAMD11, (SANS), SBF2, SC5D, SCAPER, SCLT1, SCO2, SDCCAG8, SEMA3E, SEMA4A, SETX, SH3PXD2B, SHH, SIL1, SIPA1L3, SIX3, SIX6, SLC16A12, SLC24A1, SLC24A5, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC38A8, SLC39A5, SLC45A2, SLC4A11, SLC4A4, SLC7A14, SLITRK6, SMO, SMOC1, SNAI2, SNRNP200, SNX3, SOX1, SOX10, SOX2, SOX3, SPATA7, SPP2, SRD5A3, SSBP1, STAG2, STN1, STRA6, STS, STX3, TACSTD2, TAT, TAX1BP3, TBC1D20, TBX22, TCF4, TDRD7, TEAD1, TEK, TENM3, TFAP2A, TGFBI, TIMM8A, TIMP3, TINF2, TLR4, TMEM126A, TMEM237, (TMEM5), TMEM67, TMEM98, TOPORS, TP63, TPP1, TRAF3IP1, TRAPPC11, TREX1, TRIM32, TRIM37, TRIM44, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TUBB3, TUBGCP4, TUBGCP6, TULP1, TWNK, TYR, TYRP1, UBE3B, UBIAD1, UNC119, UNC45B, (USH1B), USH1C, (USH1D), (USH1F), USH1G, (USH1J, USH2A, USH2B), (USH2D, (USH3A), (USH3B), (USH4), USP45, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WASHC5, WDPCP, WDR19, WDR36, WFS1, WHRN, WRN, WT1, XPNPEP2, XYLT2, YAP1, YME1L1, ZBTB20, ZEB1, (ZFH4), ZFHX4, ZNF408, ZNF423, ZNF469, ZNF513, ZNF644
Kontaktní osoba: Mgr. Jana Indráková, Mgr. Magdaléna Mičulková Dvořáková, RNDr. Jana Pospíšilová, Ph.D.
Onemocnění a vady srdce (253)
A2ML1, ABCA7, ABCC9, ACTA1, ACTA2, ACTC1, ACTN2, ACVR2B, ADAMTS2, ADAMTSL4, AEBP1, AKAP9, ALG10B, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, APOA2, APOB, APOE, APP, ATP6V1A, ATP6V1E1, ATP7A, B2M, B3GALT6, B4GALT7, BAG3, BGN, BRAF, C1R, C1S, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV3, CBL, CBS, CFC1, CHST14, CITED2, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COX15, CRELD1, CRYAB, CSRP3, CST3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DPP6, DSC2, DSE, DSG2, DSP, DTNA, EFEMP2, ELN, EMD, EPG5, EYA4, FBLN5, FBN1, FBN2, FGA, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXE3, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GJA1, GJA5, GLA, GPD1L, GSN, HCN4, HFE, HRAS, ILK, ITM2B, JAG1, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, (KCNE1L), KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLF10, KRAS, LAMA4, LAMP2, LDB3, LEFTY2, LMNA, LOX, LTBP2, LTBP3, LTBP4, LYZ, LZTR1, MAP2K1, MAP2K2, MED12, MFAP5, MIB1, MMP21, MNS1, MRAS, MURC, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NODAL, NOS1AP, NOTCH1, NPPA, NR2F2, NRAS, OSMR, P4HA1, PDLIM3, PKD1L1, PKP2, PLN, PLOD1, PPA2, PPP1CB, PRDM16, PRDM5, PRKAG2, PRKAR1A, PRKG1, PRNP, PSEN1, PSEN2, PTPN11, PYCR1, RAF1, RANGRF, RASA2, RBM20, RIN2, RIT1, ROBO4, RRAS, RRAS2, RYR2, SAA1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCD, SHOC2, SKI, SLC25A4, SLC2A10, SLC39A13, SLMAP, SMAD2, SMAD3, SMAD4, SMAD6, SNTA1, SORL1, SOS1, SOS2, SPRED1, SYNE2, TAF1A, TAZ, TBX1, TBX20, TBX3, TBX5, TCAP, TECRL, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TOMM40, TPM1, TRDN, TREM2, TRPM4, TSPYL1, TTN, TTR, TXNRD2, VCL, ZFPM2, ZIC3, ZNF469
Kontaktní osoba: Ing. Radka Sítková
Onemocnění ledvin (484)
ABCA3, ABCB11, ABCB4, ABCC2, ABCC6, ACE, ACTN4, ACVR2B, ADAMTS13, ADAMTS9, AGT, AGTR1, AGTR2, AGXT, AHI1, AKR1D1, ALDOB, ALG8, ALMS1, AMACR, ANKFY1/KIAA1255, ANKS6, ANLN, ANOS1/KAL1, AP2S1, APOA1, APOL1, AQP2, AR, ARHGAP24, ARHGDIA, ARL13B, ARL2BP, ARL3, ARL6, ARMC4, ARMC9, ATP6AP2, ATP6V0A4, ATP6V1B1, ATP8B1, AVIL, AVP, AVPR2, B2M, B9D1, B9D2, BAAT, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMP7, BMPR1B, BSND, C2CD3, C2orf71, C3, c8orf37, C8ORF38/NDUFAF6, CA2, CACNA1H, CAMKMT, CASR, CC2D2A, CCDC103, CCDC114, CCDC141, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCM2/C7orf22, CCNO, CD19, CD2AP, CD46/MCP, CD81, CDC5L, CDC73, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP290/NPHP6, CEP41, CEP55, CEP83, CFAP221/PCDP1, CFAP298/C21orf59, CFAP300, CFAP52, CFAP53/CCDC11, CFB, CFC1, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFTR, CHD1L, CHRM3, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN14, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CR2, CRB2, CRELD1, CRIM1, CSF2RA, CSF2RB, CSPP1, CTNS, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27A1, DACT1, DAW1, DCDC2, DGKE, DMP1, DNAAF1, DNAAF2/KTU, DNAAF3, DNAAF4/DYX1C1, DNAAF5, DNAH1, DNAH11, DNAH3, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DRC1, DSTYK, DYNC2H1, DYNC2LI1, DZIP1L, EGF, EHHADH, EMP2, ENPP1, EVC, EVC2, EYA1, FAH, FAM111A, FGA, FGF20, FGF23, FGF8, FGF9, FN1, FOXC1, FOXE1, FOXH1, FOXI1, FOXJ1, FRAS1, FREM1, FREM2, FXYD2, G6PC, GALNT3, GANAB, GAPVD1, GAS2L2, GAS8/GAS11/DRC4, GATA3, GATA6, GATM, GBE1, GCM2, GDF1, GDNF, GJA1, GLI3, GLIS2/NPHP7, GLIS3, GNA11, GNAS, GREB1L/KIAA1772/C18ORF6, GREM1, GRHPR, GRIP1, GSN, HNF1A, HNF1B, HNF4A, HOGA1, HSD11B2, HSD3B7, HTRA1, HYLS1, ICOS, IFIH1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT74/CCDC2, IFT80, IFT81, IKZF1, IL21, ILK, IMPDH1, INF2/C14ORF173, INPP5E, INTU/KIAA1284, INVS/NPHP2, IQCB1/NPHP5, IRF2BP2, IRS4, ITGA3, ITGA8, KANK2/KIAA1518, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ5, KIAA0556/KATNIP, KIAA0586, KIAA0753, KIAA0974/FAM149B1, KIF14, KIF3B, KIF7, KL, KLHL3, KRIT1, LAGE3, LAMB2, LCA5, LEFTY2, LIFR, LIN7C, LMX1B, LRBA, LRP2BP, LRP4, LRP5, LRRC56, LRRC6, LRRCC1, LYZ, LZTFL1/BBS17, MAGED2, MAGI2/KIAA0705/AIP1, MAPKBP1, MCIDAS, MEN1, MKKS, MKS1, MMACHC, MMP21, MNS1, MS4A1, MUC1, MYH9, MYO1E, MYO5B, MYOG, NAT1, NCF1, NEK1, NEK10, NEK4, NEK8/NPHP9, NFKB1, NFKB2, NFU1, NKX2-1, NKX2-5, NME8, NODAL, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR1H4, NR3C2, NRIP1, NUP107, NUP133, NUP160/NPHS19, NUP205, NUP37, NUP85, NUP93, OCRL, OFD1, OSGEP, PAX2, PAX8, PBX1, PCBD1, PCDH15, PCSK5, PDCD10, PDE2A, PDE3A, PDE6D, PDSS2, PHEX, PIBF1, PIH1D3, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLXND1, PMM2, PNPLA6, PREPL, PRKCD, PRKCSH, PTH, PTPN22, PTPRO, RAB23, REN, RET, ROBO2, RPE65, RPGR, RPGRIP1, RPGRIP1L/NPHP8, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SEMA3E, SFTPA1, SFTPB, SFTPC, SFTPD, SGPL1, SHROOM3, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC25A13, SLC26A4, SLC2A2, SLC34A1, SLC34A3, SLC36A4, SLC37A4, SLC3A1, SLC4A1, SLC4A4, SLC51A, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMAD4, SMARCAL1, SMO, SOX17, SPAG1, SPEF2, SPRY2, STK36, SUFU, TAC3, TBC1D8B, TBL1X, TBX18, TCTEX1D2, TCTN1/TECT1, TCTN2, TCTN3, TFAP2A, TH, THBD, THRA, THRB, TJP2, TMEM107, TMEM127, TMEM138, TMEM216, TMEM231, TMEM237, TMEM256, TMEM67, TNFRSF13B, TNFRSF13C, TOPORS, TP53RK, TPP2, TPRKB, TRAF3IP1, TRHR, TRIM32, TRPC6, TRPM6, TRPV6, TSC1, TSC2, TSHB, TSHR, TTC12, TTC21B, TTC25, TTC8, TTF1, TXNDC15/C5orf14, ULK4, UMOD, UPK3A, USF2, VHL, WDPCP/C2ORF86, WDR19, WDR34, WDR35, WDR4, WDR60, WDR72, WDR73, WNK1, WNK4, WNT11, WNT4, WT1, XDH, XPNPEP3, ZIC3, ZMYND10, ZNF423
Kontaktní osoba: Mgr. Jana Indráková
Porucha metabolizmu surfaktantu (8)
ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD, TTF1
Kontaktní osoba: Mgr. Jana Indráková
Rezistence na thyroidální hormony (8)
FOXE, NKX2-1, NKX2-5, PAX8, SLC36A4, THRA, THRB, TSHR
Kontaktní osoba: Mgr. Jana Indráková
Vrozená porucha sluchu, 359 genů (363)
AARS1, ABCC1, ABHD12, ACOX1, ACTB, ACTG1, ACVR1, ADCY1, ADGRV1, AFG3L2, AIFM1, AK2, ALG11, ALG12, ALMS1, AMMECR1, ANKH, AP1B1, AP1S1, ARSG, ATL1, ATOH1, ATP1A2, ATP1A3, ATP2B2, ATP6AP1, ATP6V0A4, ATP6V1B1, ATP6V1B2, ATRX, BCAP31, BCS1L, BDP1, BRAF, BSND, BTD, (C20ORF54), C2orf71, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CD164, CDC14A, CDC2L1, CDC42, CDC45L, CDH11, CDH23, CEACAM16, CEP250, CEP78, CHD7, CHSY1, CIB2, CISD2, CLCNKA, CLCNKB, CLDN14, CLIC5, CLPP, CLRN1, CNBP, CNRIP1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COLEC11, COQ2, COQ6, CREB3L1, CRYM, DCAF17, DCDC2, DCHS1, DDX11, (DFNA5), DHX16, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAJC3, DNMT1, DSPP, ECHS1, EDN3, EDNRB, EFEMP1, EFTUD2, ELMOD1, ELMOD3, EPS8L2, ERAL1, ERCC3, ERCC6, ERCC8, ESPN, ESRP1, ESRRB, EXOSC2, EYA1, EYA4, FAT4, FGF3, FGFR3, FIT2, FKBP14, FLNA, FLNB, FOXC1, FOXI1, FTO, GAB1, GATA2, GATA3, GDF6, GGPS1, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB6, GLA, GLIS3, GLYCTK, GMNN, GNAI3, GPC4, (GPR98), GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HOXA1, HOXA2, HOXB1, HSD17B4, HSPA9, HUWE1, IARS2, IGF1, IL17RD, ILDR1, INF2, IRX5, ITM2B, JAG1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, KMT2D, LARS2, LHFPL5, LHFPL5, LHX3, LMX1A, LOXHD1, LRP2, LRTOMT, MAF, MAFB, MAN2B1, MAP3K7, MARVELD2, MASP1, MCM2, MCM3AP, MCM5, MED12, MET, MFN2, MGP, MICOS13, MITF, MN1, MPZ, MPZL2, MRPS7, MSRB3, MTO1, MYCN, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO3A, MYO6, MYO7A, NARS2, NDP, NDRG1, NEBL, NLRP12, NLRP3, NOG, NOTCH2, OPA1, ORC1, ORC4, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PBX1, PCDH15, PCGF2, PDE1C, PDSS1, PDZD7, PEX1, PEX12, PEX6, PEX7, PHYH, PIGL, PISD, PJVK, PLCG2, PLEK, PLOD3, PLS1, PMP22, PNPT1, POLD1, POLR1B, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRDM5, PRPS1, PSMC3, PSMD12, PTPN11, PTPRQ, PTRH2, RAI1, Rbm24, RDX, REST, RFT1, RIPOR2, RMND1, ROR1, RPGR, RPS6KA3, S1PR2, SALL1, SALL4, SCD5, SCN9A, SDHD, SEMA3E, SERAC1, SERPINB6, SGPL1, SIX1, SIX5, SLC12A1, SLC12A2, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A1, SLC4A11, SLC52A2, SLC52A3, SLC9A1, SLITRK6, SMAD4, SMPX, SNAI2, SNAP29, SOX10, SOX2, SOX6, SPATA5, SPNS2, SPTBN4, SPTLC1, SQSTM1, SRP72, SSBP1, STAG2, STRC, SUCLA2, SYNE4, TBC1D24, TBL1Y, TBX1, TCIRG1, TCOF1, TECTA, TFAM, TFAP2A, THRB, TIMM8A, TIMMDC1, TLK2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TNFRSF11A, TPRN, TRIOBP, TRMT10C, TRPV3, TRRAP, TSPEAR, TSR2, TTR, TUBB4B, TWIST2, TWNK, TXNL4A, TYMP, TYR, UBR1, USH1C, USH1G, USH2A, (USH3), VAC14, VCPKMT, VPS13B, VPS33B, WAC, WBP2, WFS1, WHRN
Kontaktní osoba: Mgr. Petra Tvrdá
Vrozené kostní anomálie, 920 genů (922)
2, 4, AAAS, ABCC9, ABR, ACAN, ACOX1, ACP5, ACTA1, ACTB, ACTG1, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADCY6, ADGRG6, AFF4, AGA, AGPS, AHI1, AIFM1, AIRE, AKT1, AKT3, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANAPC1, ANKH, ANKRD11, ANKRD35, ANO5, ANTXR1, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARID2, ARL6, ARMC9, ARSB, ARSL/ARSE, ASCC1, ASXL1, ASXL2, ASXL3, ATAD1, ATP6AP2, ATP6V0A2, ATP7A, ATR, ATRIP, ATRX, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9/PTHB1, BCOR, BGN, BHLHA9, BICD2, BLM/RECQL3, BMP1, BMP2, BMP4, BMP7, BMPER, BMPR1B, BPNT2/IMPAD1, BRAF, BRCA2, BRD4, BRIP1, BTK, C12ORF65, C15ORForf41, C2CD3, C8ORF37, CA2, CACNA1C, CAD, CANT1, CASR, CBFB, CBL, CC2D2A, CCBE1, CCDC115, CCDC22, CCDC47, CCDC8, CCN6/WISP3, CCND2, CD96, CDAN1, CDC42, CDC45, CDC6, CDH1, CDH11, CDH3, CDKN1C, CDT1, CENPE, CENPF, CENPJ, CEP120, CEP152, CEP290, CEP41, CEP55, CEP63, CERT1/COL4A3BP, CFAP410/C21orf2, CFL2, CHAT, CHD4, CHD7, CHL1/CALL, CHRNA7, CHRNG, CHST11, CHST14, CHST3, CHSY1, CHUK, CIBAR1/FAM92A, CILK1, CKAP2L, CLCF1, CLCN5, CLCN7, CNOT2, CNTNAP1, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COX4I2, CPLANE1, CREB3L1, CREBBP, CRIM1, CRIPT, CRTAP, CSGALNACT1, CSPP1, CST6, CTNNB1, CTSA, CTSC, CTSK, CTU2, CUL4B, CUL7, CWC27, CYP26B1, CYP27B1, CYP2R1, DCHS1, DCPS, DDR2, DDRGK1, DDX11, DDX59, DEAF1, DHCR24, DHCR7, DHODH, DIS3L2, DLL3, DLL4, DLX1, DLX3, DLX5, DMP1, DNA2, DNAJC21, DNM2, DNMT3A, DOCK1, DOCK6, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPH1, DPM1, DPM2, DPM3, DSE, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, DYT1/TOR1A, EBP, ECEL1, EDARADD, EDN1, EED, EFL1, EFNA4, EFNB1, EFTUD2, EIF2AK3, EIF4A3, ELMO2, ENPP1, EOGT, EP300, EPS15L1, ERBB3, ERCC1, ERCC4, ERCC5, ERCC6, ERF, ERGIC1, ESCO2, EVC, EVC2, EXOC6B, EXOSC2, EXOSC9, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM149B1, FAM20B, FAM20C, FAM58A/CCNQ, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAT4, FBLN1, FBN1, FBN2, FBXL3, FBXO11, FBXW11, FCSK, FDFT1, FERMT1, FERMT3, FGD1, FGF10, FGF16, FGF17, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FHL1, FIG4, FKBP10, FLI1, FLNA, FLNB, FLVCR2, FN1, FRAS1, FREM1, FREM2, FTO, FUCA1, FUT8, FZD2, GALNS, GALNT2, GALNT3, GBA, GBE1, GDF3, GDF5, GDF6, GFM2, GH1, GHR, GHRHR, GHSR, GJA1, GLB1, GLDN, GLE1, GLI1, GLI2, GLI3, GMNN, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC4, GPC6, GPX4, GRHL2, GRHL3, GRIP1, GSC, GTF2E2, GUSB, GZF1, HAAO, HAPLN1/CRTL1, HDAC6, HDAC8, HES7, HESX1, HGSNAT, HIST1H1E/H1-4, HMGA2, HMX2, HNRNPK, HOXA10, HOXA11, HOXA13, HOXD10, HOXD13, HOXD3, HPGD, HRAS, HSD17B4, HSPA9, HSPG2, HUWE1, HYAL1, HYLS1, IARS2, IBA57, ICK/CILK1, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IHH, IKBKG, IL11RA, IL1RN, IL6ST, INPP5E, INPPL1, INTU, IQCE, IRF6, IRX5, ISCA2, ITPR1, JAG1, KAT6A, KAT6B, KBTBD13, KCNH1, KCNJ2, KCTD1, KDM1A, KDM6A, KDM6B, KIAA0586, KIAA0753, KIAA0825, KIAA1109, KIAA1279, KIF14, KIF1A, KIF22, KIF3B, KIF5C, KIF7, KL, KLHL40, KLHL41, KMT2A, KMT2D, KPTN, KRAS, KYNU, LBR, LBX1, LEMD3, LFNG, LGI4, LIFR, LIG4, LMBR1, LMNA, LMOD3, LMX1B, LONP1, LPIN2, LRP2, LRP4, LRP5, LTBP2, LTBP3, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACROH2A1, MAD2L2, MAF, MAFB, MAGEL2, MAGI2, MAGT1, MAN2B1, MANBA, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MCM5, MED12, MEGF8, MEIS2, MEOX1, MESD, MESP2, MET, MGAT2, MGP, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MN1, MNX1, MOGS, MPDU1, MPI, MPZ, MRAS, MRPS16, MRPS28, MSX1, MSX2, MTAP, MTX2, MUSK, MYBPC1, MYCN, MYH3, MYH8, MYO18B, MYO9A, MYOD1, MYPN, NAA10, NAGLU, NANS, NBAS, NBN, NCAPG2, NEB, NECTIN, NECTIN1, NEDD4L, NEK1, NEK9, NEPRO, NEU1, NEXMIF, NF1, NFIX, NFIX, NFKB2, NGLY1, NHEJ1, NIN, NIPBL, NIT1, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPHP3, NPR2, NRAS, NSD1, NSDHL, NSMCE2, NSUN2, NUP88, NUS1, NXN, OBSL1, OCRL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1/LEPRE1, P4HB, PALB2, PAM16, PAPSS2, PAX1, PAX3, PBX1, PCDH12, PCNA, PCNT, PCYT1A, PDE3A, PDE4D, PDE6D, PDGFRB, PEX5, PEX7, PGAP2, PGAP3, PGK1, PGM1, PHEX, PHF8, PHGDH, PHIP, PI4KA, PIBF1, PIEZO2, PIGK, PIGO, PIGS, PIGT, PIGV, PIGW, PIGY, PIK3C2A, PIK3CA, PIK3R1, PIK3R2, PIP5K1C, PISD, PITX1, PITX2, PLAA, PLAG1, PLCB3, PLC/HSPG2, PLEKHM1, PLK4, PLOD2, PLS3, PML, PMM2, POC1A, POLE, POLR1A, POLR1B, POLR1C, POLR1D, POLR3A, POMP, POP1, POR, PORCN, PPIB, PPM1D, PPP1CB, PPP1R12A, PPP3CA, PRG4, PRKAR1A, PRMT7, PROM1, PRRX1, PSAT1, PSMD12, PSPH, PTCH1, PTCH2, PTDSS1, PTH, PTH1R, PTHLH, PTPN11, PUF60, PUM1, PYCR1, QRICH1, RAB23, RAB33B, RAD21, RAD51, RAD51C, RAF1, RAI1, RALGAPA1, RAP1A, RAP1B, RAPSN, RARB, RBBP8, RBBPS, RBM10, RBM8A, RBPJ, RECQL4, RFT1, RFWD3, RHOA, RIN2, RIPK4, RIPPLY2, ROR2, RPGRIP1L, RPL10, RPL11, RPL13, RPL15, RPL26, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRAS2, RSPOR2, RSPRY1, RTTN, RUNX2, RYR1, SALL1, SALL4, SAMD9, SBDS, SBF1, SC5D/SC5DL, SCARF2, SCYL2, SDC2, SDCCAG8, SEC23A, SEC24D, SEM1, SEMA3E, SERPINF1, SERPINH1, SETBP1, SETD2, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOC2, SHOX, SIK3, SIN3A, SIX2, SKI, SLC10A7, SLC17A5, SLC18A3, SLC25A24, SLC26A2, SLC29A3, SLC2A1, SLC2A2, SLC34A1, SLC34A3, SLC35A1, SLC35A3, SLC35C1, SLC35D1, SLC39A13, SLC39A8, SLC5A7, SLC6A9, SLC9A3R1/NHERF1, SLCO2A1, SLCO5A1, SLURP1, SLX4, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMO, SMOC1, SMPD4, SNRPB, SNX10, SON, SOS1, SOS2, SOST, SOX11, SOX3, SOX4, SOX6, SOX9, SP7, SPARC, SPECC1L, SPG20, SPRTN, SRCAP, SRD5A3, SSR4, STAC3, STAG2, STAMBP, STAT3, STT3A, STT3B, STX16, SUFU, SUMF1, SUZ12, SYNE, SYNE1, TALDO1, TAPT1, TASP1, TBC1D24, TBCD, TBCE, TBL1XR1, TBX1, TBX15, TBX2, TBX22, TBX3, TBX4, TBX5, TBX6, TBXAS1, TBXT, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN2, TCTN3, TELO2, TENT5A/FAM46A, TERT, TFAP2A, TFAP2B, TGDS, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TLK2, TMCO1, TMEM107, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM43, TMEM67, TNFRSF11A/RANK, TNFRSF11B/OPG, TNFSF11/RANKL, TNNI2, TNNT1, TNNT3, TONSL, TP63, TPM2, TPM3, TRAF3IP1, TRAIP, TRAPPC2/SEDL, TRAPPC6A, TREM2, TRIM32, TRIO, TRIP11, TRIP4, TRPS1, TRPV4, TRPV6, TRRAP, TTC21B, TTC8, TTN, TWIST1, TWIST2, TXNDC15, TYROBP, UBA1, UBA2, UBE2T, UBE3B, UFSP2, USP9X, VAC14, VDR, VIPAS39, VPS33A, VPS33B, VPS35L/C16ORF62, WDPCP, WDR19, WDR34, WDR35, WDR37, WDR60, WNT1, WNT10A, WNT10B, WNT3, WNT5A, WNT7A, XAGE1B, XRCC2, XRCC4, XYLT1, XYLT2, YY1, YY1AP1, ZBTB16, ZBTB42, ZC4H2, ZFHX4, ZIC1, ZIC3, ZMIZ1, ZMPSTE24, ZNF141, ZNF30, ZNF335, ZNF462, ZNF469, ZSWIM6
Kontaktní osoba: Mgr. Petra Tvrdá
Vzácná onemocnění (636)
A2ML1, AAAS, ABL1, ACAN, ACTB, ACTG1, ACVR1, ACVRL1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADGRG2, AEBP1, AFF4, AGGF1, AIRE, AKR1C2, AKR1C4, AKT1, AKT2, ALX1, ALX3, ALX4, ANAPC1, ANGPT2, ANKRD11, ANOS1, ANTXR2, AP1S1, APC2, AR, ARHGAP29, ARHGAP31, ARID1A, ARID1B, ARID2, ARSL, ARX, ASCC1, ASCL1, ASXL1, ASXL2, ASXL3, ATN1, ATP7B, ATR, ATRIP, B3GALT6, B3GALTL, B3GAT3, B4GALT7, BHLHA9, BICD2, BICRA, BMP2, BMP4, BMPR1B, BRAF, BRD4, BRWD3, BTK, BTRC, C1R, C1S, C2CD3, CALCRL, CANT1, CASR, CBL, CBX2, CCDC141, CCDC22, CCDC8, CCL2, CCND2, CD96, CDC45, CDC6, CDH1, CDH3, CDK5, CDKL5, CDKN1C, CDON, CDT1, CELSR1, CENPE, CENPF, CENPJ, CEP120, CEP152, CEP63, CFTR, CHD7, CHD8, CHST14, CHST3, CHSY1, CIBAR1, CKAP2L, CNOT1, CNTNAP2, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, COQ6, CP, CPA1, CPE, CPLANE1, CREBBP, CTRC, CUL4B, CUL7, CYP11A1, CYP11B1, CYP17A1, CYP26B1, DCAF17, DCC, DCX, DDR2, DDX59, DHCR24, DHCR7, DHH, DHX37, DIS3L2, DISP1, DLL1, DLL4, DLX3, DLX4, DLX5, DLX6, DNA2, DNM2, DNMT3A, DOCK6, DOK7, DPF2, DPYSL5, DSE, DUSP6, DVL1, DVL3, DYNC1H1, DYNC2H1, DYNC2LI1, EBF3, EBP, ECE1, ECEL1, EDN3, EDNRB, EED, EFNB1, EFTUD2, ENG, EOGT, EP300, EPHB4, EPS15L1, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EZH2, FAM20C, FBLN1, FBN1, FBN2, FEZF1, FGD1, FGF10, FGF16, FGF17, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP14, FLNA, FLNB, FLRT3, FLT4, FOXC2, FOXE1, FOXG1, FOXH1, FRAS1, FREM1, FREM2, FSHB, FTH1, FUZ, FZD2, GABBR2, GAS1, GDF2, GDF3, GDF5, GDF6, GDNF, GH1, GHR, GHRH, GHRHR, GHSR, GJA1, GJB2, GJC2, GLE1, GLI1, GLI2, GLI3, GMNN, GNAS, GNRH1, GNRHR, GPC3, GPC4, GPC6, GRHL3, GRIP1, GZF1, HAMP, HDAC4, HDAC8, HECW2, HESX1, HFE, HIST1H1E, HJV, HMGA2, HOXA13, HOXD13, HRAS, HS6ST1, HSD3B2, HSPA9, HYAL2, HYLS1, IARS1, IDH1, IDH2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT80, IGF1, IGF1R, IGF2, IHH, IL17RD, INTU, IQCE, IQSEC2, IRF6, JAG1, JAM2, KAT6A, KAT6B, KATNB1, KCNH1, KCNQ1OT1, KCTD1, KDM6A, KIAA0586, KIAA0753, KIAA0825, KIF22, KIFBP, KISS1, KISS1R, KITLG, KLB, KLHL7, KMT2A, KMT2D, KRAS, KYNU, L1CAM, LAMB1, LBR, LGI4, LHB, LHCGR, LHX3, LHX4, LIFR, LIG4, LMBR1, LMX1B, LOXL3, LRP2, LRP4, LTBP2, LTBP3, LZTR1, MACF1, MAGEL2, MAMLD1, MAP2K1, MAP2K2, MAP3K1, MASP1, MATN3, MAU2, MC2R, MCM5, MECP2, MED12, MEFV, MEGF8, MEIS2, MEOX1, MID1, MMP13, MNX1, MRAP, MRAS, MSX1, MSX2, MTOR, MUSK, MVK, MYBPC1, MYCN, MYH3, MYH8, MYLPF, MYO18B, MYOD1, MYORG, MYT1, NALCN, NBN, NDE1, NDNF, NECTIN1, NEK1, NEK9, NF1, NF1, NF2, NFIB, NFIX, NHLH2, NIN, NIPBL, NNT, NODAL, NOG, NOTCH1, NOTCH2, NR0B1, NR5A1, NRAS, NRTN, NRXN1, NSD1, NSMCE2, NSMF, NSUN2, NTNG1, NUP88, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OTX2, P4HA1, PAFAH1B1, PAH, PAPSS2, PARP1, PAX3, PCNT, PDE3A, PDGFB, PDGFRB, PGAP2, PGAP3, PHF6, PHOX2B, PI4KA, PIEZO1, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGQ, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R1, PIK3R2, PITX1, PITX2, PLAG1, PLK4, PLOD1, PLXND1, POLA1, POLR1B, POLR1C, POLR1D, POMT1, POMT2, POR, PORCN, POU1F1, PPP1CB, PRKACB, PRKAR1A, PRMT7, PROK2, PROKR2, PROP1, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, PTPN14, RAB23, RAD21, RAF1, RAI1, RAP1A, RAP1B, RAPSN, RASA1, RASA2, RASA3, RBBP8, RBM10, RBM8A, RBPJ, RECQL4, RELN, RET, REV3L, RIT1, RLIM, RNF125, RNF135, RNF216, RNPC3, ROR2, RPS6KA3, RRAS, RRAS2, RTEL1, RUNX2, SALL1, SALL4, SAMD9, SATB2, SC5D, SCARF2, SEM1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEMA7A, SETD2, SETD5, SF3B2, SF3B4, SGPL1, SHH, SHOC2, SHOX, SIX3, SKI, SLC18A3, SLC20A2, SLC26A2, SLC29A3, SLC39A13, SLC40A1, SMAD3, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMO, SMPD4, SMS, SNAP29, SON, SOS1, SOS2, SOST, SOX10, SOX11, SOX18, SOX2, SOX3, SOX4, SOX9, SPECC1L, SPINK1, SPINT2, SPRED1, SPRED2, SPRY4, SRCAP, SRY, STAG2, STAMBP, STAR, STIL, STXBP1, SUFU, SUMO1, SUZ12, TAC3, TACR3, TANC2, TBC1D24, TBCK, TBX1, TBX15, TBX19, TBX2, TBX22, TBX5, TBXT, TCF12, TCF4, TCOF1, TCTEX1D2, TCTN3, TDGF1, TEK, TELO2, TFAP2A, TFAP2B, TFR2, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TIE1, TMCO1, TMEM107, TMTC3, TNNI2, TNNT3, TNXB, TOR1A, TP63, TPM2, TRAIP, TRIP11, TRPS1, TRPV4, TTC21B, TTC7A, TUBA1A, TWIST1, TXNL4A, UBE3A, UGT1A1, UNC80, USP7, USP9X, VANGL1, VANGL2, VEGFC, VIPAS39, VPS13B, VPS33B, VPS35L, WASHC5, WDPCP, WDR11, WDR19, WDR34, WDR35, WDR60, WNT10B, WNT4, WNT5A, WNT7A, WT1, XPR1, YWHAE, ZEB2, ZFPM2, ZIC1, ZIC2, ZIC3, ZNF141, ZSWIM6
Kontaktní osoba: Ing. Petra Cibulková, MBA, Mgr. Veronika Hrabcová, Ph.D.
Wilsonova choroba (2)
ATP7B, CP
Kontaktní osoba: RNDr. Hana Kolaříková

Upozornění: Za správnost údajů odpovídá pracoviště, které je do databáze nahlásilo.