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考えれる13県の原因 wdr35

結果を表示する: English

  • 遺伝性腎細胞癌

    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]

  • 常染色体優性脊椎肋骨異骨症

    先天奇形 (SRPS1/2B/3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (SRPS2A) NEK1 [HSA: 4750 ] [KO: K08857 ] (SRPS5) WDR35 [HSA: 57539 ] [KO: K19674 ] (SRPS6) WDR60 [HSA: 55112 ] [KO: K22869[kegg.jp] 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]

  • 短体幹症

    先天奇形 (SRPS1/2B/3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (SRPS2A) NEK1 [HSA: 4750 ] [KO: K08857 ] (SRPS5) WDR35 [HSA: 57539 ] [KO: K19674 ] (SRPS6) WDR60 [HSA: 55112 ] [KO: K22869[kegg.jp]

  • Curry Hall症候群

    ] (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] 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]

  • 成人発症 ジストニア - パーキンソン症

    SPG43)[ C19orf12 ],10%(日本では数例) ・Static encephalopathy of childhood with neurodegeneration in adulthood, Beta-propeller protein-associated neurodegeneration(SENDA/BPAN)[ WDR45[seikagaku.jbsoc.or.jp] ],7%(日本で原因遺伝子が同定されたが,国内の患者は10名に満たない) ・Fatty acid hydroxylase-associated neurodegeneration(FAHN/SPG35)[ FA2H ], 2%(日本ではきわめてまれ) ・Coenzyme A synthase protein-associated neurodegeneration[seikagaku.jbsoc.or.jp]

  • 硬結性骨化症 2型

    先天奇形 (SRPS1/2B/3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (SRPS2A) NEK1 [HSA: 4750 ] [KO: K08857 ] (SRPS5) WDR35 [HSA: 57539 ] [KO: K19674 ] (SRPS6) WDR60 [HSA: 55112 ] [KO: K22869[kegg.jp]

  • 骨幹端再発異形成

    先天奇形 (SRPS1/2B/3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (SRPS2A) NEK1 [HSA: 4750 ] [KO: K08857 ] (SRPS5) WDR35 [HSA: 57539 ] [KO: K19674 ] (SRPS6) WDR60 [HSA: 55112 ] [KO: K22869[kegg.jp]

  • 小脳運動失調・性腺機能低下症候群

    ] (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] 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]

  • 多発性骨端異形成症 - 重度の近位大腿骨形成異常

    先天奇形 (SRPS1/2B/3) DYNC2H1 [HSA: 79659 ] [KO: K10414 ] (SRPS2A) NEK1 [HSA: 4750 ] [KO: K08857 ] (SRPS5) WDR35 [HSA: 57539 ] [KO: K19674 ] (SRPS6) WDR60 [HSA: 55112 ] [KO: K22869[kegg.jp]

  • グリセロールキナーゼ不足

    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]

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