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考えれる10県の原因 rdh11

  • 運動失調症 - 性腺機能低下症 - 脈絡膜ジストロフィー症候群

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 神鳥斑点網膜

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ) IMPDH1 [HSA: 3614 ] [KO: K000 88 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 黒内障-多毛症症候群

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 幼児の神経軸索ジストロフィー 

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 毛髪捻転症

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 原発性ジストニアDYT2型

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ) IMPDH1 [HSA: 3614 ] [KO: K000 88 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 運動失調症 - 色素上皮網膜変性症候群

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 原発性捻転ジストニア 6

    ) IMPDH1 [HSA: 3614 ] [KO: K000 88 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

  • 脊椎上骨幹端形成不全 PAPSS2型

    GDF6 Leber 先天性黑蒙 17 型 AR AIPL1 Leber 先天性黑蒙 4 型 AR LCA5 Leber 先天性黑蒙 5 型 AR RPGRIP1 Leber 先天性黑蒙 6 型 AR CRX Leber 先天性黑蒙 7 型 AR CEP290 Leber 先天性黑朦 10 型 AR IMPDH1 Leber 先天性黑朦 11[docsplayer.com] 型 AD RD3 Leber 先天性黑朦 12 型 AR RDH12 Leber 先天性黑朦 13 型 AR GUCY2D Leber 先天性黑朦 1 型 AR RPE65 Leber 先天性黑朦 2 型 AR SPATA7 Leber 先天性黑朦 3 型 AR CRB1 Leber 先天性黑朦 8 型 AR NMNAT1 Leber 先天性黑朦[docsplayer.com]

  • 内眼角贅皮

    ) IMPDH1 [HSA: 3614 ] [KO: K00088 ] (LCA12) RD3 [HSA: 343035 ] (LCA13) RDH12 [HSA: 145226 ] [KO: K11153 ] (LCA14) LRAT [HSA: 9227 ] [KO: K00678 ] (LCA15) TULP1 [HSA: 7287[kegg.jp] ] (LCA7) CRX [HSA: 1406 ] [KO: K09337 ] (LCA8) CRB1 [HSA: 23418 ] [KO: K16681 ] (LCA9) NMNAT1 [HSA: 64802 ] [KO: K06210 ] (LCA10) CEP290 [HSA: 80184 ] [KO: K16533 ] (LCA11[kegg.jp]

さらなる症状