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考えれる77県の原因 ap4m1

  • ZNF335欠乏による小頭症性原発性小人症

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性の非症候性難聴および難聴DFNB61

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K076 19 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体優性痙性対麻痺37型

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性四肢帯筋ジストロフィー2I型

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性難聴42

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K076 19 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 濾胞性魚鱗癬 - 脱毛症 - 羞明症候群

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K076 19 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性痙性対麻痺57型

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性痙性対麻痺 55型

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性痙性対麻痺 48型

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

  • 常染色体劣性痙性対麻痺53型

    [HSA: 10717 ] [KO: K12401 ] (SPG48) AP5Z1 [HSA: 9907 ] [KO: K19025 ] (SPG49) TECPR2 [HSA: 9895 ] (SPG50) AP4M1 [HSA: 23431 ] [KO: K12400 ] (SPG51) AP4E1 [HSA: 9179 ] [KO:[kegg.jp] SPG43) MPAN [HSA: 83636 ] [KO: K23168 ] (SPG44) GJC2 [HSA: 57165 ] [KO: K07619 ] (SPG45) NT5C2 [HSA: 22978 ] [KO: K01081 ] (SPG46) GBA2 [HSA: 57704 ] [KO: K17108 ] (SPG47) AP4B1[kegg.jp]

さらなる症状