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考えれる44県の原因 kif5a

  • ガードナー症候群

    棚橋 祐典 281 (5) PTEN 前濱 朝彦 285 (6) APC 柴田 浩行 291 (7) KIT 廣田 誠一 295 (8) ALK,PHOX2B,KIF1B 大平 美紀 299 (9) FA genes(FA遺伝子群) 稲野将二郎 305 (10) SMAD4,BMPR1A 山口 潤也 311 (11) BRCA1,BRCA2[nippon-rinsho.co.jp] […] disorders(色素性乾皮症とその類縁疾患) 森脇 真一 257 2 原因遺伝子 (1) ATM(ataxia telangiectasia mutated) 高木 正稔 263 (2) FAS, FASLG 須田 貴司 270 (3) BLM(RECQ2),WRN(RECQ3),RTS(RECQ4) 関 政幸 276 (4) PRKAR1A[nippon-rinsho.co.jp]

  • リー症候群

    (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K08867 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp] [HSA: 547 ] [KO: K10392 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K113 73 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

  • X連鎖知的障害 - 精神病 - 巨精巣症候群

    [HSA: 3796 ] [KO: K10393 ] KIF5C [HSA: 3800 ] [KO: K10396 ] H01882 アスペルガー症候群 アスペルガー症候群は、自閉症に関連する行動障害の一種で、社会的な機能の異常や繰り返し行動を伴うが、知的障害や言語機能の異常はない。[kegg.jp] TUBB [HSA: 203068 ] [KO: K07375 ] TUBB2A [HSA: 7280 ] [KO: K07375 ] TUBB2B [HSA: 347733 ] [KO: K07375 ] TUBB3 [HSA: 10381 ] [KO: K07375 ] TUBG1 [HSA: 7283 ] [KO: K10389 ] KIF2A[kegg.jp]

  • 家族性褐色細胞腫

    褐色細胞腫の原因になりうる主要1遺伝子 NF1 RET VHL SDHA (NGS) SDHB SDHC SDHD SDHAF2 (NGS) TMEM127 MAX HIF2A KIF1B PHD2 HRAS FH 印:本研究室で解析可能な遺伝子 2)10%ルールは本当か? 褐色細胞腫は10%病と呼ばれる。[tsukuba-laboratorymedicine.com]

  • 常染色体劣性痙性対麻痺 55型

    [HSA: 9897 ] [KO: K18464 ] (SPG9) ALDH18A1 [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K10396 ] (SPG11) SPG11 [HSA: 80208 ] [KO: K19026 ] (SPG12) RTN2 [HSA:[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K08867 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp] [HSA: 547 ] [KO: K10392 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K11373 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

  • 常染色体劣性痙性対麻痺 48型

    [HSA: 9897 ] [KO: K18464 ] (SPG9) ALDH18A1 [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K10396 ] (SPG11) SPG11 [HSA: 80208 ] [KO: K19026 ] (SPG12) RTN2 [HSA:[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K08867 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp] [HSA: 547 ] [KO: K10392 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K11373 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

  • 常染色体劣性痙性対麻痺 26型

    [HSA: 9897 ] [KO: K18464 ] (SPG9) ALDH18A1 [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K10396 ] (SPG11) SPG11 [HSA: 80208 ] [KO: K19026 ] (SPG12) RTN2 [HSA:[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K08867 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp] [HSA: 547 ] [KO: K10392 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K11373 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

  • 常染色体劣性痙性対麻痺 21型

    [HSA: 9897 ] [KO: K18464 ] (SPG9) ALDH18A1 [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K10396 ] (SPG11) SPG11 [HSA: 80208 ] [KO: K19026 ] (SPG12) RTN2 [HSA:[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K08867 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp] [HSA: 547 ] [KO: K10392 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K11373 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

  • RAS随伴自己免疫白質増殖症候群

    の分子細胞生物学的研究王,礼寧 2724 122491 神経細胞内のモーター分子KIF5による輸送機構の研究郭,敬卓 2725 122492 Cdc6はDNA損傷によるS期停止からの回復を制御する闞,秋明 2726 122493 新規モーター分子KIF26Aの分子遺伝学的研究周,如贇 2727 122494 マウス発生期網膜からの未分化前駆細胞[gakui.dl.itc.u-tokyo.ac.jp] […] inducer)の切断江川,長靖 2720 121993 精神神経疾患における常同行動に関する研究石黒,秋生 2721 121994 骨組織石灰化を制御する細胞内情報伝達系に関する研究河野,慎次郎 2722 122489 キネシンスーパーファミリー蛋白KIF13Bの分子遺伝学的研究王,大亮 2723 122490 新しいキネシンスーパーファミリー蛋白KIF16A[gakui.dl.itc.u-tokyo.ac.jp]

  • 常染色体劣性痙性対麻痺 27型

    [HSA: 9897 ] [KO: K18464 ] (SPG9) ALDH18A1 [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K10396 ] (SPG11) SPG11 [HSA: 80208 ] [KO: K19026 ] (SPG12) RTN2 [HSA:[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K08867 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp] [HSA: 547 ] [KO: K10392 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K11373 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

さらなる症状