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考えれる20県の原因 coxpd1

結果を表示する: English

  • リー・フラウメニ症候群

    また、COXPD患者のミトコンドリアの翻訳伸長因子の遺伝子(GFM1, TUFM, TSFM およびC12orf65)に変異があることも報告されている 先天代謝異常症; ミトコンドリア病 (COXPD1) GFM1 [HSA: 85476 ] [KO: K02355 ] (COXPD2) MRPS16 [HSA: 51021 ] [KO:[kegg.jp] ) RMND1 [HSA: 55005 ] (COXPD12) EARS2 [HSA: 124454 ] [KO: K01885 ] (COXPD13) PNPT1 [HSA: 87178 ] [KO: K00962 ] (COXPD14) FARS2 [HSA: 10667 ] [KO: K01889 ] (COXPD15) MTFMT[kegg.jp] ] (COXPD7) C12orf65 [HSA: 91574 ] (COXPD8) AARS2 [HSA: 57505 ] [KO: K01872 ] (COXPD9) MRPL3 [HSA: 11222 ] [KO: K02906 ] (COXPD10) MTO1 [HSA: 25821 ] [KO: K03495 ] (COXPD11[kegg.jp]

  • 常染色体劣性痙性対麻痺 55型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性痙性対麻痺 48型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性痙性対麻痺 26型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性痙性対麻痺 21型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性痙性対麻痺 27型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性痙性対麻痺 20型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体劣性痙性対麻痺 32型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 常染色体優性痙性対麻痺 8型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

  • 多発性内分泌腫瘍症 4型

    [HSA: 11154 ] [KO: K12403 ] (SPG53) VPS37A [HSA: 137492 ] [KO: K12185 ] (SPG54) DDHD2 [HSA: 23259 ] [KO: K16545 ] (SPG55) COXPD7 [HSA: 91574 ] (SPG56) CYP2U1 [HSA: 113612[kegg.jp] K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO: K12402 ] (SPG52) AP4S1[kegg.jp]

さらなる症状