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考えれる135県の原因 kif5a

  • ZNF335欠乏による小頭症性原発性小人症

    [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]

  • 常染色体劣性の非症候性難聴および難聴DFNB61

    [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] SPG4) SPAST [HSA: 6683 ] [KO: K13254 ] (SPG5) CYP7B1 [HSA: 9420 ] [KO: K07430 ] (SPG6) NIPA1 [HSA: 123606 ] [KO: K19364 ] (SPG7) SPG7 [HSA: 6687 ] [KO: K09552 ] (SPG8) WSHC5[kegg.jp]

  • 常染色体優性痙性対麻痺37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]

  • 常染色体劣性四肢帯筋ジストロフィー2I型

    [HSA: 9897 ] [KO: K18464 ] (SPG9) ALDH18A1 [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K103 96 ] (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: K103 92 ] (HSAN3/FD) IKBKAP [HSA: 8518 ] [KO: K11373 ] (HSAN4/CIPA) NTRK1 [HSA: 4914 ] [KO: K03176 ] (HSAN5) NGFB [HSA: 4803 ] [KO: K02582 ] (HSNSP) CCT5[kegg.jp]

  • 常染色体劣性難聴42

    [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] SPG4) SPAST [HSA: 6683 ] [KO: K13254 ] (SPG5) CYP7B1 [HSA: 9420 ] [KO: K07430 ] (SPG6) NIPA1 [HSA: 123606 ] [KO: K19364 ] (SPG7) SPG7 [HSA: 6687 ] [KO: K09552 ] (SPG8) WSHC5[kegg.jp]

  • 常染色体劣性痙性対麻痺57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]

  • 濾胞性魚鱗癬 - 脱毛症 - 羞明症候群

    [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] SPG4) SPAST [HSA: 6683 ] [KO: K13254 ] (SPG5) CYP7B1 [HSA: 9420 ] [KO: K07430 ] (SPG6) NIPA1 [HSA: 123606 ] [KO: K19364 ] (SPG7) SPG7 [HSA: 6687 ] [KO: K09552 ] (SPG8) WSHC5[kegg.jp]

  • 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]

  • 常染色体劣性原発性小頭症11

    [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] [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] (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]

さらなる症状