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考えれる30県の原因 hmn2a

  • 常染色体劣性痙性対麻痺タイプ63

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K088 79 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ61

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K088 79 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 知的障害 - 痙縮 - 欠指症症候群

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K08879 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ72

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K088 79 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 常染色体優性非症候性聴覚ニューロパチー

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K08879 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ58

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K088 79 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • X染色体連鎖隔離視神経萎縮症早期発症

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K08879 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ54

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K08879 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K103 13[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ56

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K088 79 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

  • 両咽頭親指の多指症

    ] (HMN5A) GARS [HSA: 2617 ] [KO: K01880 ] (HMN5A) BSCL2 [HSA: 26580 ] [KO: K19365 ] (HMN5B) REEP1 [HSA: 65055 ] [KO: K17338 ] (HMN6/DSMA1) IGHMBP2 [HSA: 3508 ] [KO: K19036[kegg.jp] 神経系疾患 (HMN2A) HSPB8 [HSA: 26353 ] [KO: K08879 ] (HMN2B) HSPB1 [HSA: 3315 ] [KO: K04455 ] (HMN2C) HSPB3 [HSA: 8988 ] [KO: K09544 ] (HMN2D) FBXO38 [HSA: 81545 ] [KO: K10313[kegg.jp] ] (HMN7A) SLC5A7 [HSA: 60482 ] [KO: K14387 ] (HMN7B) DCTN1 [HSA: 1639 ] [KO: K04648 ] (HMN8) TRPV4 [HSA: 59341 ] [KO: K04973 ] (DSMA2) SIGMAR1 [HSA: 10280 ] [KO: K20719 ][kegg.jp]

さらなる症状