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考えれる10県の原因 gmppb

結果を表示する: Deutsch

  • 常染色体優性肢帯型筋ジストロフィー 1D型

    FKRP [HSA: 79147 ] [KO: K19873 ] (MDDGC7) ISPD [HSA: 729920 ] [KO: K21031 ] (MDDGC9) DAG1 [HSA: 1605 ] [KO: K06265 ] (MDDGC12) POMK [HSA: 84197 ] [KO: K17547 ] (MDDGC14) GMPPB[kegg.jp] 55624 ] [KO: K09666 ] (MDDGB4) FKTN [HSA: 2218 ] [KO: K19872 ] (MDDGB5/MDC1C) FKRP [HSA: 79147 ] [KO: K19873 ] (MDDGB6/MDC1D) LARGE [HSA: 9215 ] [KO: K09668 ] (MDDGB14) GMPPB[kegg.jp]

  • 先天性筋ジストロフィー 1C型

    B3GNT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAT1, FHL1, FKRP, FKTN, FLNC, GFPT1, GMPPB[ncnp.go.jp] FKRP [HSA: 79147 ] [KO: K19873 ] (MDDGC7) ISPD [HSA: 729920 ] [KO: K21031 ] (MDDGC9) DAG1 [HSA: 1605 ] [KO: K06265 ] (MDDGC12) POMK [HSA: 84197 ] [KO: K17547 ] (MDDGC14) GMPPB[kegg.jp] 55624 ] [KO: K09666 ] (MDDGB4) FKTN [HSA: 2218 ] [KO: K19872 ] (MDDGB5/MDC1C) FKRP [HSA: 79147 ] [KO: K19873 ] (MDDGB6/MDC1D) LARGE [HSA: 9215 ] [KO: K09668 ] (MDDGB14) GMPPB[kegg.jp]

  • 眼咽頭型筋ジストロフィー

    B3GNT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAT1, FHL1, FKRP, FKTN, FLNC, GFPT1, GMPPB[ncnp.go.jp]

  • コフィン・ローリー症候群

    DAG1 [HSA: 1605 ] [KO: K06265 ] (LGMD2Q) PLEC1 [HSA: 5339 ] [KO: K10388 ] (LGMD2R) DES [HSA: 1674 ] [KO: K07610 ] (LGMD2S) TRAPPC11 [HSA: 60684 ] [KO: K20308 ] (LGMD2T) GMPPB[kegg.jp]

  • 常染色体劣性痙性対麻痺 32型

    DAG1 [HSA: 1605 ] [KO: K06265 ] (LGMD2Q) PLEC1 [HSA: 5339 ] [KO: K10388 ] (LGMD2R) DES [HSA: 1674 ] [KO: K076 10 ] (LGMD2S) TRAPPC11 [HSA: 60684 ] [KO: K20308 ] (LGMD2T) GMPPB[kegg.jp]

  • 先天性スクラーゼ ・ イソマルターゼ欠損症

    10329 ] [KO: K21052 ] (MDDGA11) B3GALNT2 [HSA: 148789 ] [KO: K09654 ] (MDDGA12) SGK196 [HSA: 84197 ] [KO: K17547 ] (MDDGA13) B3GNT1 [HSA: 11041 ] [KO: K21032 ] (MDDGA14) GMPPB[kegg.jp]

  • 白血球粘着不全症

    10329 ] [KO: K21052 ] (MDDGA11) B3GALNT2 [HSA: 148789 ] [KO: K09654 ] (MDDGA12) SGK196 [HSA: 84197 ] [KO: K17547 ] (MDDGA13) B3GNT1 [HSA: 11041 ] [KO: K21032 ] (MDDGA14) GMPPB[kegg.jp]

  • 先天性グリコシル化障害 1D型

    FKRP [HSA: 79147 ] [KO: K19873 ] (MDDGC7) ISPD [HSA: 729920 ] [KO: K21031 ] (MDDGC9) DAG1 [HSA: 1605 ] [KO: K06265 ] (MDDGC12) POMK [HSA: 84197 ] [KO: K17547 ] (MDDGC14) GMPPB[kegg.jp] 55624 ] [KO: K09666 ] (MDDGB4) FKTN [HSA: 2218 ] [KO: K19872 ] (MDDGB5/MDC1C) FKRP [HSA: 79147 ] [KO: K19873 ] (MDDGB6/MDC1D) LARGE [HSA: 9215 ] [KO: K09668 ] (MDDGB14) GMPPB[kegg.jp]

  • 遺伝性疾患

    B3GNT1, CAPN3, CAV3, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, FAT1, FHL1, FKRP, FKTN, FLNC, GFPT1, GMPPB[ncnp.go.jp]

  • 拡張型心筋症がある感音性難聴

    DAG1 [HSA: 1605 ] [KO: K06265 ] (LGMD2Q) PLEC1 [HSA: 5339 ] [KO: K103 88 ] (LGMD2R) DES [HSA: 1674 ] [KO: K07610 ] (LGMD2S) TRAPPC11 [HSA: 60684 ] [KO: K20308 ] (LGMD2T) GMPPB[kegg.jp]

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