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考えれる24県の原因 prickle2

  • 原発性ジストニアDYT2型

    神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp] ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp]

  • 常染色体劣性の非致死性多発性翼状症候群

    神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp] ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp]

  • 家族性良性斑点のある網膜

    ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp] 神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp]

  • 小児神経軸索ジストロフィー1

    ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp] 神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp]

  • 幼児の神経軸索ジストロフィー 

    ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp] 神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[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

    ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp] 神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp]

  • 進行性ミオクローヌス性てんかん 3型

    [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] (EPM7) KCNC1 [HSA: 3746 ] [KO: K04887 ] (EPM8) CERS1 [HSA: 10715[genome.jp] 神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp] [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602 ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2[genome.jp]

  • 家族性エピソード疼痛症候群1型

    神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp] ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([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

    ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2 [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] ([kegg.jp] 神経系疾患 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1 [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602[kegg.jp]

  • 進行性ミオクローヌスてんかん5型

    [HSA: 950 ] [KO: K12384 ] (EPM5) PRICKLE2 [HSA: 166336 ] [KO: K04511 ] (EPM6) GOSR2 [HSA: 9570 ] [KO: K08496 ] (EPM7) KCNC1 [HSA: 3746 ] [KO: K04887 ] (EPM8) CERS1 [HSA: 10715[genome.jp] [HSA: 144165 ] [KO: K04511 ] (EPM2A) EPM2A [HSA: 7957 ] [KO: K14165 ] (EPM2B) NHLRC1 [HSA: 378884 ] [KO: K10602 ] (EPM3) KCTD7 [HSA: 154881 ] [KO: K21917 ] (EPM4) SCARB2[genome.jp] Epilepsy or seizures 8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy H00810 進行性ミオクローヌスてんかん 病因遺伝子 (EPM1) CSTB [HSA: 1476 ] [KO: K13907 ] (EPM1B) PRICKLE1[genome.jp]

さらなる症状