Spinocerebellar ataxia

Disease Term Disease ID Gene Symbol References
Ataxia, Spinocerebellar C0087012 CACNA1A 11985388, 16899342
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PEX6
POLG 28492532, 18546365, 24091540, 19762913, 20176107, 19364868, 21880868
PPP2R2B 18940801
PRKCG 20398063
ATXN1 17322884, 16122429, 11719269, 18337722
ATXN2 20065139, 19224595
ATXN7 25664129
SPTBN2
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
PNPLA6
AFG3L2 20208537
CIC 18337722
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
SLC52A2
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
SPINOCEREBELLAR ATAXIA 17 C1846707 ATP5F1B 24413982
NQO1 24413982
PDIA3 24413982
HMOX1 24413982
HSPA5 24413982
HSPA8 24413982
P4HB 24413982
TBP
HYOU1 24413982
Spinocerebellar Ataxia Type 1 C0752120, 98755 CACNA1A 16899342, 11985388
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PPP2R2B 18940801
PRKCG 20398063
ATXN1 24896178, 16122429, 18337722, 17322884, 11719269
ATXN2 20065139, 19224595
ATXN7 25664129
SPTBN2
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
AFG3L2 20208537
CIC 18337722
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
Spinocerebellar Ataxia Type 2 C0752121, 98756 CACNA1A 11985388, 16899342
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PPP2R2B 18940801
PRKCG 20398063
ATXN1 16122429, 18337722, 11719269, 17322884
ATXN2 24488689, 19224595, 20065139
ATXN7 25664129
SPTBN2
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
AFG3L2 20208537
CIC 18337722
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
Spinocerebellar Ataxia Type 4 C0752122, 98765 CACNA1A 16899342, 11985388
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PPP2R2B 18940801
PRKCG 20398063
ATXN1 18337722, 16122429, 17322884, 11719269
ATXN2 20065139, 19224595
ATXN7 25664129
SPTBN2
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
AFG3L2 20208537
CIC 18337722
PLEKHG4 21267591, 18293026
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
Spinocerebellar Ataxia Type 5 C0752123, 98766 CACNA1A 16899342, 11985388
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PPP2R2B 18940801
PRKCG 20398063
ATXN1 17322884, 18337722, 11719269, 16122429
ATXN2 20065139, 19224595
ATXN7 25664129
SPTBN2 16429157, 22914369
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
AFG3L2 20208537
CIC 18337722
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
Spinocerebellar Ataxia Type 6 (disorder) C0752124 CACNA1A 16325861, 27476654, 17575281, 27250579, 20682717, 8988170, 16899342, 29053796, 11985388, 21734179, 9345107, 9302278
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PPP2R2B 18940801
PRKCG 20398063
ATXN1 17322884, 18337722, 16122429, 11719269
ATXN2 19224595, 20065139
ATXN7 25664129
SPTBN2
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
AFG3L2 20208537
CIC 18337722
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
Spinocerebellar Ataxia Type 7 C0752125, 94147 CACNA1A 16899342, 11985388
FOXC1 19668217
GFI1 16122429
GRID2
GRM1
MME
PPP2R2B 18940801
PRKCG 20398063
ATXN1 18337722, 17322884, 16122429, 11719269
ATXN2 19224595, 20065139
ATXN7 27604308, 9288099, 25664129
SPTBN2
TRPC3
CACNA1G
RUBCN
STUB1
NOP56
AFG3L2 20208537
CIC 18337722
TDP2
WWOX
ANO10
CWF19L1
SNX14
SCYL1
ELOVL5
UBA5
RBM17 18337722
TTBK2 18037885
VWA3B
SYT14
ATXN1L 17322884
TGM6
CCDC88C
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 C1836474 TPP1 23418007
SPINOCEREBELLAR ATAXIA 37 C3889636 DAB1 29939198, 28686858
SCA37 23700170
SPINOCEREBELLAR ATAXIA 26 C1836395 EEF2 23001565
SPINOCEREBELLAR ATAXIA 45 C4540400 FAT2 29053796
SPINOCEREBELLAR ATAXIA 27 C1836383 FGF14 26089778, 15470364, 12489043, 16211615
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 C4015505 GRID2 23611888, 27418511, 25841024, 20395510, 24078737
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 C3553816 GRM1 26308914, 22901947
SPINOCEREBELLAR ATAXIA 44 C4521563 GRM1 28886343
SPINOCEREBELLAR ATAXIA 18 C1843884 IFRD1
SPINOCEREBELLAR ATAXIA 15 C1847725 ITPR1 27108797, 17590087, 27062503, 18579805, 22986007
SPINOCEREBELLAR ATAXIA 29 C1861732 ITPR1 26770814, 22986007, 26257172, 27062503, 29925855, 27108797, 28659154
Spinocerebellar ataxia type 15/16 C4274322, 98769 ITPR1
Spinocerebellar ataxia 13 C1854488 KCNC3 21479265, 22289912, 23734863, 19953606, 16501573, 25152487, 25756792
Spinocerebellar ataxia 19 C1846367 KCND3 22890214, 23280837, 23280838, 28895081
SPINOCEREBELLAR ATAXIA 43 C4310763 MME 27583304
SPINOCEREBELLAR ATAXIA 23 C1853250 PDYN 21035104, 23471613, 23108490, 21712028
PDYN-AS1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 C1849094 PEX6 26669662
SLC52A2 26669662
Spinocerebellar Ataxia 12 C1858501 PPP2R2B
Spinocerebellar ataxia 14 C1854369 PRKCG 17659643, 29053796, 15313841, 12644968, 29603387, 12164726
SPTBN2 29795474, 28636205
SPINOCEREBELLAR ATAXIA 8 C1837454 ATXN8OS
ATXN8 10192387
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 C3809327 SPTBN2 28636205, 23236289
Erythrokeratodermia with ataxia C1851481 ELOVL4 26010696, 24566826
SPINOCEREBELLAR ATAXIA 41 C4225158 TRPC3 25477146
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 C4539948 XRCC1 28002403
SPINOCEREBELLAR ATAXIA 42 C4225205 CACNA1G 26456284, 26715324, 29878067, 28726809
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 C4539808 ATG5 26812546
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 C1847114 ZNF592 20531441, 26123727
WDR73 26123727
SPINOCEREBELLAR ATAXIA 47 C4693672 PUM1 29474920
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 C3810326 RUBCN 20826435, 23728897
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 C4014261 STUB1 24742043, 30381368, 25258038, 24312598, 24719489, 24113144
JMJD8
Spinocerebellar ataxia 36 C3472711 NOP56
SPINOCEREBELLAR ATAXIA 28 C1853249 AFG3L2 22022284, 20208537, 30544562, 20725928, 26677414, 22964162, 20354562, 27604308, 29053796, 24293060
TUBB6 20725928
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 C1853761 SETX 15106121, 26633545, 22088787, 14770181, 16717225, 23941260, 26257172, 24105744, 23566282, 21576111, 21438761, 24814856, 17159128, 23786967, 17096168, 19141356, 16644229, 19696032, 24244371
PIK3R5 22065524
APTX 14506070
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 C1859298 PMPCA 10528257, 25808372, 30617178, 26657514
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) C1853116 SYNE1 23325900, 24123876, 17159980, 28687974, 23959263, 27086870
SYNE1-AS1
SPINOCEREBELLAR ATAXIA 46 C4540404 PLD3 29053796, 30312375
Spinocerebellar Ataxia 10 C1963674 ATXN10 17620556
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 C4310780 TDP2 24658003, 31410782
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 C3280452 WWOX 25411445, 24456803, 24369382
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 C3150998 ANO10 21092923, 25182700
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 C1846492 VPS13D 29604224, 29518281
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 C4015301 CWF19L1 30167849, 26197978, 25361784
Infantile onset spinocerebellar ataxia C1849096 TWNK 17722119, 27551684, 19853444, 16135556, 22353293, 19513767, 17921179, 30391088, 27604308
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 C2677589 COQ8A 18319074, 20580948, 25498144, 18319072, 29915382, 24164873, 27604308, 24896178, 25655951, 26818466, 27106809, 24218524, 22036850, 24048965, 26640698
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 C4225355 SNX14 25439728
SPINOCEREBELLAR ATAXIA 21 C1843891 SCYL1
TMEM240 29053796, 25070513, 18418688
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 C4225236 SCYL1 30914295, 26581903
Spinocerebellar ataxia type 38 C4518337, 423296 ELOVL5 25065913
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 C4310699 UBA5 26872069
NPHP3-ACAD11
SPINOCEREBELLAR ATAXIA 11 C1858351 TTBK2 18037885
SPINOCEREBELLAR ATAXIA 31 (disorder) C1861736 BEAN1 19878914, 17611710, 22992774
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 C4310781 VWA3B 26157035
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 C3280226 SYT14 21835308
Spinocerebellar ataxia 25 C1837518 SCA25
SPINOCEREBELLAR ATAXIA 35 C3888031 TGM6 29053796, 25253745, 21106500, 22554020, 23206699
SPINOCEREBELLAR ATAXIA 20 C1837541 SCA20
Spinocerebellar ataxia type 40 C4518336, 423275 CCDC88C 25062847, 21031079
Spinocerebellar ataxia 30 C2936793 SCA30 18996908
Infantile-onset spinocerebellar ataxia 1186 TWNK
Spinocerebellar ataxia type 34 1955 ELOVL4
Spinocerebellar ataxia type 36 276198 NOP56
Spinocerebellar ataxia type 35 276193 TGM6
Spinocerebellar ataxia type 29 208513 ITPR1
Spinocerebellar ataxia type 30 211017 SCA30
Spinocerebellar ataxia type 31 217012 BEAN1
Spinocerebellar ataxia type 37 363710 DAB1 28686858
SCA37
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 284324 TPP1
Spinocerebellar ataxia type 41 458798 TRPC3
Spinocerebellar ataxia type 42 458803 CACNA1G
Spinocerebellar ataxia type 43 497764 MME
Spinocerebellar ataxia type 27 98764 FGF14
Spinocerebellar ataxia type 14 98763 PRKCG
Spinocerebellar ataxia type 8 98760 ATXN8
ATXN8OS
Spinocerebellar ataxia type 17 98759 TBP
Spinocerebellar ataxia type 12 98762 PPP2R2B
Spinocerebellar ataxia type 10 98761 ATXN10
Spinocerebellar ataxia type 19/22 98772 KCND3
Spinocerebellar ataxia type 18 98771 IFRD1
Spinocerebellar ataxia type 21 98773 TMEM240
Spinocerebellar ataxia type 13 98768 KCNC3
Spinocerebellar ataxia type 11 98767 TTBK2
Spinocerebellar ataxia type 6 98758 CACNA1A
Spinocerebellar ataxia type 25 101111 SCA25
Spinocerebellar ataxia type 26 101112 EEF2
Spinocerebellar ataxia type 28 101109 AFG3L2
Spinocerebellar ataxia type 20 101110 SCA20
Spinocerebellar ataxia type 23 101108 PDYN