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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00063 | Spinocerebellar ataxia (SCA) | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | Neurodegenerative disease | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] |
H01891 | Autosomal recessive spinocerebellar ataxias | Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... | Neurodegenerative disease |
(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706] (SCAR2) PMPCA [HSA:23203] [KO:K01412] (SCAR4) VPS13D [HSA:55187] [KO:K19527] (SCAR7) TPP1 [HSA:1200] [KO:K01279] (SCAR8) SYNE1 [HSA:23345] [KO:K19326] (SCAR9) COQ8A [HSA:56997] [KO:K08869] (SCAR10) ANO10 [HSA:55129] [KO:K19327] (SCAR11) SYT14 [HSA:255928] [KO:K19328] (SCAR12) WWOX [HSA:51741] [KO:K19329] (SCAR13) GRM1 [HSA:2911] [KO:K04603] (SCAR14) SPTBN2 [HSA:6712] [KO:K23932] (SCAR15) RUBCN [HSA:9711] [KO:K19330] (SCAR16) STUB1 [HSA:10273] [KO:K09561] (SCAR17) CWF19L1 [HSA:55280] [KO:K24939] (SCAR18) GRID2 [HSA:2895] [KO:K05207] (SCAR19) SLC9A1 [HSA:6548] [KO:K05742] (SCAR20) SNX14 [HSA:57231] [KO:K17926] (SCAR21) SCYL1 [HSA:57410] [KO:K08876] (SCAR22) VWA3B [HSA:200403] [KO:K24509] (SCAR23) TDP2 [HSA:51567] [KO:K19619] (SCAR24) UBA5 [HSA:79876] [KO:K12164] (SCAR25) ATG5 [HSA:9474] [KO:K08339] (SCAR26) XRCC1 [HSA:7515] [KO:K10803] (SCAR27) GDAP2 [HSA:54834] [KO:K24997] (SCAR28) THG1L [HSA:54974] [KO:K10761] (SCAR29) VPS41 [HSA:27072] [KO:K20184] (SCAR30) PITRM1 [HSA:10531] [KO:K06972] (SCAR31) ATG7 [HSA:10533] [KO:K08337] (SCAR32) PRDX3 [HSA:10935] [KO:K20011] (SCAR33) RNU12 [HSA:267010] (SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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