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考えれる51県の原因 wdr19

  • クレフティング症候群を伴わない外転異所性外胚葉性異形成

    [HSA: 57539 ] [KO: K19674 ] (CED3) IFT43 [HSA: 112752 ] [KO: K19675 ] (CED4) WDR19 [HSA: 57728 ] [KO: K19671 ] リンク ICD-11: LD27.0Y ICD-10: Q87.5 MeSH: C562966 OMIM: 218330[genome.jp] H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH タイトル Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19[genome.jp] […] developmental anomalies or syndromes LD27 Syndromes with skin or mucosal anomalies as a major feature H00529 頭蓋外胚葉性異形成症 病因遺伝子 (CED1) IFT122 [HSA: 55764 ] [KO: K19656 ] (CED2) WDR35[genome.jp]

  • 頭蓋外胚葉異形成症2

    [HSA: 57539 ] [KO: K19674 ] (CED3) IFT43 [HSA: 112752 ] [KO: K19675 ] (CED4) WDR19 [HSA: 57728 ] [KO: K19671 ] リンク ICD-11: LD27.0Y ICD-10: Q87.5 MeSH: C562966 OMIM: 218330[genome.jp] H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH タイトル Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19[genome.jp] […] developmental anomalies or syndromes LD27 Syndromes with skin or mucosal anomalies as a major feature H00529 頭蓋外胚葉性異形成症 病因遺伝子 (CED1) IFT122 [HSA: 55764 ] [KO: K19656 ] (CED2) WDR35[genome.jp]

  • 外眼筋タイプ3Aの先天性線維症

    Vasopressin-regulated water reabsorption (ATD2) IFT80 [HSA: 57560 ] [KO: K19678 ] (ATD3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (ATD4) TTC21B [HSA: 79809 ] [KO: K19673 ] (ATD5) WDR19[kegg.jp]

  • コロボーマ小眼球症 - 肢根型点状形成異常症候群

    ネフロン癆 1 NPHP1 2 NPHP1 NPHP2 INVS NPHP3 NPHP3 NPHP4 NPHP4 NPHP5(SLSN5) IQCB1 NPHP6 3 (SLSN6) CEP290 NPHP7 GLIS2 NPHP84 RPGRIP1L NPHP9 MEK8 NPHP11 TMEM67 NPHP12 TTC21B NPHP13 WDR19[grj.umin.jp]

  • 頭蓋外胚葉異形成症

    [HSA: 57539 ] [KO: K19674 ] (CED3) IFT43 [HSA: 112752 ] [KO: K19675 ] (CED4) WDR19 [HSA: 57728 ] [KO: K19671 ] リンク ICD-11: LD27.0Y ICD-10: Q87.5 MeSH: C562966 OMIM: 218330[genome.jp] ネフロン癆 1 NPHP1 2 NPHP1 NPHP2 INVS NPHP3 NPHP3 NPHP4 NPHP4 NPHP5(SLSN5) IQCB1 NPHP6 3 (SLSN6) CEP290 NPHP7 GLIS2 NPHP84 RPGRIP1L NPHP9 MEK8 NPHP11 TMEM67 NPHP12 TTC21B NPHP13 WDR19[grj.umin.jp] H, Rodahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH タイトル Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19[genome.jp]

  • 進行性外眼筋麻痺 - ミオパチー - 衰弱症候群

    Vasopressin-regulated water reabsorption (ATD2) IFT80 [HSA: 57560 ] [KO: K19678 ] (ATD3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (ATD4) TTC21B [HSA: 79809 ] [KO: K19673 ] (ATD5) WDR19[kegg.jp]

  • 常染色体劣性先天性角化異常症 5型

    Vasopressin-regulated water reabsorption (ATD2) IFT80 [HSA: 57560 ] [KO: K19678 ] (ATD3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (ATD4) TTC21B [HSA: 79809 ] [KO: K19673 ] (ATD5) WDR19[kegg.jp]

  • 顔面異形 - 免疫不全 - 生存 - 短身長症候群

    先天奇形 (SRTD2) IFT80 [HSA: 57560 ] [KO: K19678 ] (SRTD3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (SRTD4) TTC21B [HSA: 79809 ] [KO: K19673 ] (SRTD5) WDR19 [HSA: 57728 ] [KO: K19671[kegg.jp] ] (SRTD6) NEK1 [HSA: 4750 ] [KO: K08857 ] (SRTD7) WDR35 [HSA: 57539 ] [KO: K19674 ] (SRTD8) WDR60 [HSA: 55112 ] [KO: K22869 ] (SRTD9) IFT140 [HSA: 9742 ] [KO: K19672 ] (SRTD10[kegg.jp]

  • 常染色体優性四肢帯筋ジストロフィー1C型

    Vasopressin-regulated water reabsorption (ATD2) IFT80 [HSA: 57560 ] [KO: K19678 ] (ATD3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (ATD4) TTC21B [HSA: 79809 ] [KO: K19673 ] (ATD5) WDR19[kegg.jp]

  • 肝線維症 - 腎嚢胞 - 知的障害症候群

    先天奇形 (CED1) IFT122 [HSA: 55764 ] [KO: K19656 ] (CED2) WDR35 [HSA: 57539 ] [KO: K19674 ] (CED3) IFT43 [HSA: 112752 ] [KO: K19675 ] (CED4) WDR19 [HSA: 57728 ] [KO: K19671 ][kegg.jp] ネフロン癆 1 NPHP1 2 NPHP1 NPHP2 INVS NPHP3 NPHP3 NPHP4 NPHP4 NPHP5(SLSN5) IQCB1 NPHP6 3 (SLSN6) CEP290 NPHP7 GLIS2 NPHP84 RPGRIP1L NPHP9 MEK8 NPHP11 TMEM67 NPHP12 TTC21B NPHP13 WDR19[grj.umin.jp] HSA: 284086 ] [KO: K20877 ] (NPHP10) SDCCAG8 [HSA: 10806 ] [KO: K16488 ] (NPHP11) TMEM67 [HSA: 91147 ] [KO: K19348 ] (NPHP12) TTC21B [HSA: 79809 ] [KO: K19673 ] (NPHP13) WDR19[kegg.jp]

さらなる症状