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考えれる19県の原因 yars2

結果を表示する: English

  • リー・フラウメニ症候群

    また最近ミトコンドリアtyrosyl-tRNA合成酵素の遺伝子YARS2の変異もMLASAを引き起こすことが報告された ...[kegg.jp] 先天代謝異常症; ミトコンドリア病 hsa00970 Aminoacyl-tRNA biosynthesis (MLASA1) PUS1 [HSA: 80324 ] [KO: K06173 ] (MLASA2) YARS2 [HSA: 51067 ] [KO: K01866 ] (HML) ISCU [HSA: 23479 ] [KO: K22068[kegg.jp]

  • 常染色体劣性痙性対麻痺 55型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体劣性痙性対麻痺 48型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体劣性痙性対麻痺 26型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体劣性痙性対麻痺 21型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体劣性痙性対麻痺 27型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体劣性痙性対麻痺 20型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体劣性痙性対麻痺 32型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] ) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K076 20 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 常染色体優性痙性対麻痺 8型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

  • 多発性内分泌腫瘍症 4型

    [HSA: 8565 ] [KO: K01866 ] (CMTDIE) INF2 [HSA: 64423 ] (CMTDIF) GNB4 [HSA: 59345 ] [KO: K04538 ] (CMTRIB) KARS [HSA: 3735 ] [KO: K04567 ] (CMTRIC) PLEKHG5 [HSA: 57449 ] [[kegg.jp] CMT6B) SLC25A46 [HSA: 91137 ] [KO: K03454 ] (CMTX1) GJB1 [HSA: 2705 ] [KO: K07620 ] (CMTX5) PRPS1 [HSA: 5631 ] [KO: K00948 ] (CMTX6) PDK3 [HSA: 5165 ] [KO: K00898 ] (CMTDIC) YARS[kegg.jp]

さらなる症状