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考えれる248県の原因 kif1a

  • 常染色体劣性の非症候性難聴および難聴DFNB61

    [HSA: 1859 ] [KO: K08825 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA:[kegg.jp] 4E) EGR2 [HSA: 1959 ] [KO: K12496 ] (CMT1F/2E) NEFL [HSA: 4747 ] [KO: K04572 ] (CMT2A1) KIF1B [HSA: 23095 ] [KO: K10392 ] (CMT2A2/6) MFN2 [HSA: 9927 ] [KO: K06030 ] (CMT2B[kegg.jp] K21852 ] (MRD3) CDH15 [HSA: 1013 ] [KO: K068 09 ] (MRD4) KIRREL3 [HSA: 84623 ] (MRD5) SYNGAP1 [HSA: 8831 ] [KO: K17631 ] (MRD6) GRIN2B [HSA: 2904 ] [KO: K05210 ] (MRD7) DYRK1A[kegg.jp]

  • ZNF335欠乏による小頭症性原発性小人症

    4E) EGR2 [HSA: 1959 ] [KO: K12496 ] (CMT1F/2E) NEFL [HSA: 4747 ] [KO: K04572 ] (CMT2A1) KIF1B [HSA: 23095 ] [KO: K10392 ] (CMT2A2/6) MFN2 [HSA: 9927 ] [KO: K06030 ] (CMT2B[kegg.jp] [HSA: 2583 ] [KO: K00725 ] (SPG28) DDHD1 [HSA: 80821 ] [KO: K13619 ] (SPG30) KIF1A [HSA: 547 ] [KO: K10392 ] (SPG31) REEP1 [HSA: 65055 ] [KO: K17338 ] (SPG33) ZFYVE27 [HSA[kegg.jp] [HSA: 5832 ] [KO: K12657 ] (SPG10) KIF5A [HSA: 3798 ] [KO: K10396 ] (SPG11) SPG11 [HSA: 80208 ] [KO: K19026 ] (SPG12) RTN2 [HSA: 6253 ] [KO: K20722 ] (SPG13) HSPD1 [HSA:[kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ63

    4E) EGR2 [HSA: 1959 ] [KO: K12496 ] (CMT1F/2E) NEFL [HSA: 4747 ] [KO: K04572 ] (CMT2A1) KIF1B [HSA: 23095 ] [KO: K10392 ] (CMT2A2/6) MFN2 [HSA: 9927 ] [KO: K06030 ] (CMT2B[kegg.jp] [HSA: 1859 ] [KO: K088 25 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K088 67 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp]

  • 常染色体優性精神遅滞24

    [HSA: 1859 ] [KO: K08825 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA:[kegg.jp] K21852 ] (MRD3) CDH15 [HSA: 1013 ] [KO: K06809 ] (MRD4) KIRREL3 [HSA: 84623 ] (MRD5) SYNGAP1 [HSA: 8831 ] [KO: K17631 ] (MRD6) GRIN2B [HSA: 2904 ] [KO: K05210 ] (MRD7) DYRK1A[kegg.jp]

  • 進行性側弯症を伴う水平注視麻痺

    それには3種のバリエーションが知られています、これがCFEOM1、2、そして 3です。KIF21A がCFEOM1の原因として、またPHOX2A/ARIXが2型の原因として知られています (もご参照ください)。[kiyosawa.or.jp] CFEOM1ではKIF21A遺伝子(12p11.2-q12)のエクソン(8, 20, 21)に変異を認める。 CFEOM2ではPHOX2A遺伝子(11q13.3-q13.4)変異が関与している。[kiyosawa.or.jp]

  • 外眼筋タイプ3Aの先天性線維症

    それには3種のバリエーションが知られています、これがCFEOM1、2、そして 3です。KIF21A がCFEOM1の原因として、またPHOX2A/ARIXが2型の原因として知られています (もご参照ください)。[kiyosawa.or.jp] 神経系疾患 hs a041 45 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381[kegg.jp] 神経系疾患 hsa04145 Phagosome hsa04540 Gap junction (CFEOM1, CFEOM3B) KIF21A [HSA: 55605 ] [KO: K10395 ] (CFEOM2) PHOX2A [HSA: 401 ] [KO: K09330 ] (CFEOM3A) TUBB3 [HSA: 10381 ][kegg.jp]

  • X連鎖性の鉄芽球性貧血および運動失調

    [HSA: 1859 ] [KO: K08825 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA:[kegg.jp] K21852 ] (MRD3) CDH15 [HSA: 1013 ] [KO: K06809 ] (MRD4) KIRREL3 [HSA: 84623 ] (MRD5) SYNGAP1 [HSA: 8831 ] [KO: K17631 ] (MRD6) GRIN2B [HSA: 2904 ] [KO: K05210 ] (MRD7) DYRK1A[kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ61

    4E) EGR2 [HSA: 1959 ] [KO: K12496 ] (CMT1F/2E) NEFL [HSA: 4747 ] [KO: K04572 ] (CMT2A1) KIF1B [HSA: 23095 ] [KO: K10392 ] (CMT2A2/6) MFN2 [HSA: 9927 ] [KO: K06030 ] (CMT2B[kegg.jp] [HSA: 1859 ] [KO: K088 25 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K088 67 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp]

  • 常染色体劣性の精神遅滞44

    [HSA: 1859 ] [KO: K08825 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA:[kegg.jp] K21852 ] (MRD3) CDH15 [HSA: 1013 ] [KO: K06809 ] (MRD4) KIRREL3 [HSA: 84623 ] (MRD5) SYNGAP1 [HSA: 8831 ] [KO: K17631 ] (MRD6) GRIN2B [HSA: 2904 ] [KO: K05210 ] (MRD7) DYRK1A[kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ72

    4E) EGR2 [HSA: 1959 ] [KO: K12496 ] (CMT1F/2E) NEFL [HSA: 4747 ] [KO: K04572 ] (CMT2A1) KIF1B [HSA: 23095 ] [KO: K10392 ] (CMT2A2/6) MFN2 [HSA: 9927 ] [KO: K06030 ] (CMT2B[kegg.jp] [HSA: 1859 ] [KO: K088 25 ] (MRD8) GRIN1 [HSA: 2902 ] [KO: K05208 ] (MRD9) KIF1A [HSA: 547 ] [KO: K10392 ] (MRD10) CACNG2 [HSA: 10369 ] [KO: K04867 ] (MRD11) EPB41L1 [HSA[kegg.jp] (HSN1F) ATL3 [HSA: 25923 ] [KO: K17339 ] (CMT2B/HMSN2B) RAB7 [HSA: 7879 ] [KO: K07897 ] (HSAN2) HSN2 [HSA: 65125 ] [KO: K088 67 ] (HSAN2B) FAM134B [HSA: 54463 ] (HSAN2C) KIF1A[kegg.jp]

さらなる症状