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考えれる160県の原因 tubb3

  • 外眼筋タイプ3Aの先天性線維症

    神経系疾患 hsa04145 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ][kegg.jp] 神経系疾患 hs a041 45 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381[kegg.jp]

  • 常染色体劣性原発性小頭症

    先天奇形 TUBB [HSA: 203068 ] [KO: K07375 ] TUBB2A [HSA: 7280 ] [KO: K07375 ] TUBB2B [HSA: 347733 ] [KO: K07375 ] TUBB3 [HSA: 10381 ] [KO: K07375 ] TUBG1 [HSA: 7283 ] [KO: K10389[kegg.jp]

  • 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

    神経系疾患 hsa04145 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ][kegg.jp] 神経系疾患 hsa04145 ファゴソーム hsa04540 ギャップ結合 (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ] [KO: K07375[kegg.jp]

  • 常染色体劣性低汗性外胚葉異形成症10B型

    ] (HLD5) FAM126A [HSA: 84668 ] [KO: K21844 ] (HLD6) TUBB4A [HSA: 10382 ] [KO: K07375 ] (HLD7) POLR3A [HSA: 11128 ] [KO: K03018 ] (HLD8) POLR3B [HSA: 55703 ] [KO: K03021 ][kegg.jp] 先天代謝異常症; 神経系疾患 (HLD1/ PMD) PLP1 [HSA: 5354 ] [KO: K17271 ] (HLD2) GJC2 [HSA: 57165 ] [KO: K07619 ] (HLD3) AIMP1 [HSA: 9255 ] [KO: K15437 ] (HLD4) HSPD1 [HSA: 3329 ] [KO: K04077[kegg.jp]

  • 原発性ジストニアDYT2型

    神経系疾患 hsa04145 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ][kegg.jp]

  • 骨格異常、性器形成不全、および精神遅滞

    先天奇形 TUBB [HSA: 203068 ] [KO: K07375 ] TUBB2A [HSA: 7280 ] [KO: K07375 ] TUBB2B [HSA: 347733 ] [KO: K07375 ] TUBB3 [HSA: 10381 ] [KO: K07375 ] TUBG1 [HSA: 7283 ] [KO: K10389[kegg.jp]

  • レチノール輸送障害による進行性網膜ジストロフィー

    神経系疾患 hsa04145 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ][kegg.jp] 神経系疾患 hsa04145 ファゴソーム hsa04540 ギャップ結合 (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ] [KO: K07375[kegg.jp]

  • 小児神経軸索ジストロフィー1

    神経系疾患 hsa04145 ファゴソーム hsa04540 ギャップ結合 (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ] [KO: K07375[kegg.jp]

  • 家族性良性斑点のある網膜

    神経系疾患 hsa04145 ファゴソーム hsa04540 ギャップ結合 (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ] [KO: K07375[kegg.jp]

  • 致命的な多発性ミトコンドリア機能不全症候群

    先天奇形 TUBB [HSA: 203068 ] [KO: K07375 ] TUBB2A [HSA: 7280 ] [KO: K07375 ] TUBB2B [HSA: 347733 ] [KO: K07375 ] TUBB3 [HSA: 10381 ] [KO: K07375 ] TUBG1 [HSA: 7283 ] [KO: K10389[kegg.jp]

さらなる症状