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考えれる41県の原因 slc33a1

結果を表示する: English

  • 進行性ミオクローヌス性てんかん 3型

    神経系疾患 PLCB1 [HSA: 23236 ] [KO: K05858 ] TBC1D24 [HSA: 57465 ] [KO: K21841 ] KCNT1 [HSA: 57582 ] [KO: K04946 ] SLC12A5 [HSA: 57468 ] [KO: K14427 ] SCN1A [HSA: 6323 ] [KO: K048[kegg.jp] 33 ] H01818 ドラベ症候群 ドラべ症候群は、稀なてんかん性脳症の一種であり、精神運動・神経発達異常を伴う。[kegg.jp]

  • 常染色体劣性難聴 44

    [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] GRIN2B [HSA: 2904 ] [KO: K05210 ] (EIEE28) WWOX [HSA: 51741 ] [KO: K19329 ] (EIEE29) AARS [HSA: 16 ] [KO: K01872 ] (EIEE30) SIK1 [HSA: 150094 ] [KO: K19008 ] (EIEE31) DNM1[kegg.jp]

  • 常染色体劣性難聴 46

    [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] GRIN2B [HSA: 2904 ] [KO: K05210 ] (EIEE28) WWOX [HSA: 51741 ] [KO: K19329 ] (EIEE29) AARS [HSA: 16 ] [KO: K01872 ] (EIEE30) SIK1 [HSA: 150094 ] [KO: K19008 ] (EIEE31) DNM1[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 26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]

  • ヒルシュスプルング病 D型-短指症候群

    感染症 hsa05152 Tuberculosis IFNGR1 [HSA: 3459 ] [KO: K051 32 ] IFNGR2 [HSA: 3460 ] [KO: K051 33 ] HLA-DRB1 [HSA: 3123 ] [KO: K06752 ] HLA-DQB1 [HSA: 3119 ] [KO: K06752 ] SLC11A1[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] GRIN2B [HSA: 2904 ] [KO: K05210 ] (EIEE28) WWOX [HSA: 51741 ] [KO: K19329 ] (EIEE29) AARS [HSA: 16 ] [KO: K01872 ] (EIEE30) SIK1 [HSA: 150094 ] [KO: K19008 ] (EIEE31) DNM1[kegg.jp]

  • 常染色体劣性痙性対麻痺 21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]

  • ニーマン・ピック病C型

    Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1.[bsd.neuroinf.jp] Gastroenterology : 1965, 48;625-33 [PubMed:14280390] [WorldCat.org] 15.0 15.1 William R Wilcox Lysosomal storage disorders: the need for better pediatric recognition and comprehensive[bsd.neuroinf.jp]

  • 常染色体劣性痙性対麻痺 27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