Strand Life Sciences

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Disorder Names

Xanthinuria(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Xeroderma pigmentosum(BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH, RECQL4, RNF113A, UVSSA, WRN, XPA, XPC)

XFE progeroid syndrome(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

X-linked Hypophosphatemic Rickets(CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TFAP2A)

X-linked infantile spinal muscular atrophy(ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, COQ2, DAG1, DES, DMD, DNAJB2, DNAJB6, DPM1, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GARS, GJB1, HSPB8, IGHMBP2, ISPD, ITGA7, LAMA2, LAMP2, LARGE, LMNA, MPZ, MYH7, MYOT, PABPN1, PHKA1, PLEC, PLEKHG5, POMGNT1, POMGNT2, POMT1, POMT2, PSMB8, PYGM, REEP1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIGMAR1, SLC16A2, SLC52A3, SLC5A7, SNCA, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TRPV4, TTN, UBA1, VAPB, VRK1)

X-linked sideroblastic anemia and ataxia(ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GATA1, HAMP, HBB, HBD, HBG1, HBG2, HFE, HFE2, HMBS, HMOX1, HSPA9, PPOX, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SLC25A38, SLC40A1, SLC4A1, SPTA1, SPTB, TFR2, TMPRSS6, UROD, UROS)

Xeroderma pigmentosa(DDB2, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC)

Xeroderma pigmentosum(BRCA2, CDK4, CDKN2A, ERCC2, ERCC3, ERCC4, ERCC5, PTEN, XPA, XPC)

XPNPEP2(XPNPEP2)

XPNPEP3(XPNPEP3)