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考えれる18県の原因 mcph1

結果を表示する: English

  • 常染色体劣性痙性対麻痺 55型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • 常染色体劣性痙性対麻痺 48型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • 常染色体劣性痙性対麻痺 26型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • ウォルコット・ラリソン症候群

    MCDR、MCF2、MCKD、MCL、MCR、MCOLN、MCOP、MCOR、MCP 、MCP 2、MCP 3、MCP 4、MCPH2、MCPH、MCS、M CSF、MDB、MDCR、MDM2、MDRV、MDS1、ME1、ME1/m、ME2、ME20、ME3、MEAX、MEB、MEC CCL 28、MECP2、MEFV、MELANA[biosciencedbc.jp] MAGE E1、MAGE E2、MAGE F1、MAGE H1、MAGEL2、MGB1、MGB2、MAN2A1、MAN2B1、MANBA、MANBB、MAOA、MAOB、MAPK8IP1、MAPT、MART 1、MART 2、MART2/m、MAT1A、MBL2、MBP、MBS1、MC1R、MC2R、MC4R、MCC、MCCC2、MCCC[biosciencedbc.jp]

  • 常染色体劣性痙性対麻痺 21型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • 常染色体劣性痙性対麻痺 27型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • 常染色体劣性痙性対麻痺 20型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • 常染色体優性痙性対麻痺 8型

    先天奇形 (MCPH1) MCPH1 [HSA: 79648 ] [KO: K19403 ] (MCPH2) WDR62 [HSA: 284403 ] [KO: K21762 ] (MCPH3) CDK5RAP2 [HSA: 55755 ] [KO: K16542 ] (MCPH4) CASC5 [HSA: 57082 ] [KO: K11542[kegg.jp] ) CEP152 [HSA: 22995 ] [KO: K16728 ] (MCPH10) ZNF335 [HSA: 63925 ] (MCPH11) PHC1 [HSA: 1911 ] [KO: K11456 ] (MCPH12) CDK6 [HSA: 1021 ] [KO: K02091 ] (MCPH13) CENPE [HSA: 1062[kegg.jp] ] (MCPH5) ASPM [HSA: 259266 ] [KO: K16743 ] (MCPH6) CENPJ [HSA: 55835 ] [KO: K11502 ] (MCPH7) STIL [HSA: 6491 ] [KO: K16724 ] (MCPH8) CEP135 [HSA: 9662 ] [KO: K16461 ] (MCPH9[kegg.jp]

  • ホモシスチン尿症cblF型をともなうメチルマロン酸尿症

    小児の会話言語特性 MCPH1の短縮型変異により、染色体断裂と他の奇形合併頭蓋骨癒合症がおき、それは未熟染色体凝縮症候群と常染色体劣性小頭症タイプⅠに対する対立遺伝子である gaiMulti-minicore disease and atypical periodic paralysis associated with novel mutations[shounishinkei.cocolog-nifty.com] における1.65 Mbの描写 7q11.21-q11.23の欠失とMAGI2の欠失のないインファンタイルスパズム ラッセル・シルバー症候群の21q22重複の特徴はダウン症候群の臨床特徴を決める場所と似ている 過剰環状20番染色体の染色体切断点の特徴 頭蓋骨癒合症の先天性リスクとしての胎児拘束 8q23-q24の重複:まれ染色体異常症 NF1[shounishinkei.cocolog-nifty.com]

  • Hoyeraal-Hreidarsson症候群

    MCDR, MCF2, MCKD, MCL, MCR, MCOLN, MCOP, MCOR, MCP , MCP 2, MCP 3, MCP 4, MCPH2, MCPH, MCS, M CSF, MDB, MDCR, MDM2, MDRV, MDS 1, ME1, ME1/m, ME2, ME20, ME3, MEAX, MEB[patentswamp.jp] MAGE H1, MAGEL2, MGB1, MGB2, MAN2A1, MAN2B1, MANBA, MANBB, MAOA, MAOB, MAPK8IP1, MAPT, MART 1, MART 2, MART2/m, MAT1A, MBL2, MBP, MBS1, MC1R, MC2R, MC4R, MCC, MCCC2, MCCC[patentswamp.jp]

さらなる症状