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Disorder Names

Jervell and Lange-Nielsen syndrome(ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DES, DSC2, DSG2, DSP, EMD, GATA4, GJA5, GLA, GPD1L, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NKX2-5, NPPA, NUP155, PKP2, PRKAG2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR)

Johanson-Blizzard syndrome(ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, GJA1, GJB2, GJB6, GRHL2, HCCS, IFT122, IFT43, IKBKG, KRT14, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, MBTPS2, MPLKIP, MSX1, NFKBIA, NOP10, OFD1, PEX1, PEX6, PIGL, PKP1, PNPLA6, PORCN, PVRL1, PVRL4, RECQL4, RIPK4, RMRP, RNF113A, ROGDI, SETBP1, TBC1D24, TBX3, TERC, TP63, TRAF6, TRPS1, TWIST2, UBR1, WDR19, WNT10A)

Jackson-Weiss syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Juvenile polyposis syndrome (JPS)(APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)

JAG1(JAG1)

JAG2(JAG2)

JAK2(JAK2)

JAK3(JAK3)

JAM3(JAM3)

JMJD1C(JMJD1C)

JPH2(JPH2)

JPH3(JPH3)

JRK(JRK)

JUN(JUN)

JUP(JUP)