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考えれる37県の原因 chrng

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  • 常染色体劣性の非致死性多発性翼状症候群

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K048 18 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K048 03 ] (LMPS) CHRND [HSA: 1144 ] [[kegg.jp] 先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K04818 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K04803 ] (LMPS) CHRND [HSA: 1144 ] [KO[kegg.jp]

  • 眼咽頭型筋ジストロフィー

    SYNE2, TCAP, TMEM43, TMEM5, TNPO3, TRAPPC11, TRIM32 61 96.7% PGM_CMP 先天性ミオパチー 先天性筋無力症候群 ACTA1, AGRN, ALG14, ALG2, BIN1, CCDC78, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG[ncnp.go.jp]

  • 原発性ジストニアDYT2型

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K048 18 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K048 03 ] (LMPS) CHRND [HSA: 1144 ] [[kegg.jp]

  • 尾部退行シーケンス

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K04818 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K04803 ] (LMPS) CHRND [HSA: 1144 ] [KO[kegg.jp]

  • 先天性筋ジストロフィー 1C型

    SYNE2, TCAP, TMEM43, TMEM5, TNPO3, TRAPPC11, TRIM32 61 96.7% PGM_CMP 先天性ミオパチー 先天性筋無力症候群 ACTA1, AGRN, ALG14, ALG2, BIN1, CCDC78, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG[ncnp.go.jp]

  • X連鎖先天性眼振1型

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K04818 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K04803 ] (LMPS) CHRND [HSA: 1144 ] [KO[kegg.jp]

  • X連鎖致死性多発性翼状症候群

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K04818 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K04803 ] (LMPS) CHRND [HSA: 1144 ] [KO[kegg.jp]

  • 家族性エピソード疼痛症候群1型

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K048 18 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K048 03 ] (LMPS) CHRND [HSA: 1144 ] [[kegg.jp]

  • RAPADILINO症候群

    先天奇形 hsa04080 Neuroactive ligand-receptor interaction (LMPS, EVMPS) CHRNG [HSA: 1146 ] [KO: K04818 ] (LMPS) CHRNA1 [HSA: 1134 ] [KO: K04803 ] (LMPS) CHRND [HSA: 1144 ] [KO[kegg.jp]

  • 筋原性ミオパチー4

    SYNE2, TCAP, TMEM43, TMEM5, TNPO3, TRAPPC11, TRIM32 61 96.7% PGM_CMP 先天性ミオパチー 先天性筋無力症候群 ACTA1, AGRN, ALG14, ALG2, BIN1, CCDC78, CFL2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG[ncnp.go.jp]

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