Create issue ticket

考えれる133県の原因 slc33a1

  • ZNF335欠乏による小頭症性原発性小人症

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性の非症候性難聴および難聴DFNB61

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] [HSA: 1759 ] [KO: K01528 ] (EIEE32) KCNA2 [HSA: 3737 ] [KO: K04875 ] (EIEE33) EEF1A2 [HSA: 1917 ] [KO: K03231 ] (EIEE34) SLC12A5 [HSA: 57468 ] [KO: K14427 ] (EIEE35) ITPA[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性難聴42

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] [HSA: 1759 ] [KO: K01528 ] (EIEE32) KCNA2 [HSA: 3737 ] [KO: K04875 ] (EIEE33) EEF1A2 [HSA: 1917 ] [KO: K03231 ] (EIEE34) SLC12A5 [HSA: 57468 ] [KO: K14427 ] (EIEE35) ITPA[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体優性痙性対麻痺37型

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性四肢帯筋ジストロフィー2I型

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K103 92 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性痙性対麻痺57型

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 濾胞性魚鱗癬 - 脱毛症 - 羞明症候群

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性痙性対麻痺 55型

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性痙性対麻痺 48型

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

  • 常染色体劣性痙性対麻痺53型

    ) ZFYVE27 [HSA: 118813 ] [KO: K19368 ] (SPG35) FA2H [HSA: 79152 ] [KO: K19703 ] (SPG39) PNPLA6 [HSA: 10908 ] [KO: K14676 ] (SPG42) SLC33A1 [HSA: 9197 ] [KO: K03372 ] (SPG43[kegg.jp] SPG26) B4GALNT1 [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33[kegg.jp]

さらなる症状