Congenital disorders of glycosylation (CDG), NGS
Genelist (179): A4GALT, ALDOB, ALDOC, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ARCN1, ARV1, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CAD, CANT1, CCDC115, CHST14, CHST3, CHST6, CHST8, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COPA, COPB2, CRPPA, CSGALNACT1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, EXTL3, FCSK, FKRP, FKTN, FUT8, G6PC3, GALE, GALK1, GALNT1, GALNT3, GALT, GANAB, GET4, GFM1, GFPT1, GFUS, GMPPA, GMPPB, GNE, GNPTAB, GOLIM4, GORAB, GORASP2, GOSR2, GPAA1, JAGN1, LARGE1, LFNG, MAGT1, MAN1B1, MAN2B2, MBTPS1, MGAT1, MGAT2, MOGS, MPDU1, MPI, MPV17, NANS, NGLY1, NUS1, OGT, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM2, PGM3, PIGA, PIGB, PIGC, PIGG, PIGF, PIGL, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIGY, PMM1, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKCSH, RFT1, RPN2, RXYLT1, SAR1B, SEC23A, SEC23B, SEC24D, SEC63, SLC10A7, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC9A7, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, STXBP1, SYP, TF, TGDS, TMEM165, TMEM199, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2
Featured Review
Genelist (179): A4GALT, ALDOB, ALDOC, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ARCN1, ARV1, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, C1GALT1C1, CAD, CANT1, CCDC115, CHST14, CHST3, CHST6, CHST8, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COPA, COPB2, CRPPA, CSGALNACT1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, EXTL3, FCSK, FKRP, FKTN, FUT8, G6PC3, GALE, GALK1, GALNT1, GALNT3, GALT, GANAB, GET4, GFM1, GFPT1, GFUS, GMPPA, GMPPB, GNE, GNPTAB, GOLIM4, GORAB, GORASP2, GOSR2, GPAA1, JAGN1, LARGE1, LFNG, MAGT1, MAN1B1, MAN2B2, MBTPS1, MGAT1, MGAT2, MOGS, MPDU1, MPI, MPV17, NANS, NGLY1, NUS1, OGT, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM2, PGM3, PIGA, PIGB, PIGC, PIGG, PIGF, PIGL, PIGK, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIGY, PMM1, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKCSH, RFT1, RPN2, RXYLT1, SAR1B, SEC23A, SEC23B, SEC24D, SEC63, SLC10A7, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC9A7, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, STXBP1, SYP, TF, TGDS, TMEM165, TMEM199, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC6B, TRAPPC9, TRIP11, TUSC3, VMA21, VPS13B, XYLT1, XYLT2