Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 10	MONDO:0013392	ANO10	Causal	21092923 23551081 25133958 27838374 32620747	ClinGen, ClinVar, GWAS catalog	Stimuli-sensing channels
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 11	MONDO:0013645	SYT14	Causal	17304550 21835308	ClinVar, HPO	—
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 12	MONDO:0013687	WWOX	Causal	24369382	ClinVar, Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 13	MONDO:0013905	GRM1	Causal	22901947	ClinVar, Disgenet	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 14	MONDO:0014159	SPTBN2	Causal	23236289 23838597 28636205 29196973	ClinVar, GWAS catalog	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 15	MONDO:0014311	RUBCN	Causal	20826435 30237576	ClinVar, GWAS catalog	Autophagy - animal
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 16	MONDO:0014339	STUB1	Causal	—	ClinVar, GenCC	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 17	MONDO:0014503	CWF19L1	Causal	25361784 26197978 27016154	ClinVar, GWAS catalog	—
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 18	MONDO:0014530	GRID2	Causal	24078737 25841024	ClinVar, GWAS catalog	Neuroactive ligand-receptor interaction Long-term depression
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 2	MONDO:0008943	PMPCA	Causal	25808372 27148589	ClinVar, Disgenet	Processing of SMDT1
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 20	MONDO:0014601	SNX14	Causal	—	ClinGen, ClinVar, GenCC	—
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 7	MONDO:0012235	TPP1	Causal	18684116 23418007 26224725 31283065 9295267	ClinVar, GWAS catalog	Lysosome XBP1(S) activates chaperone genes
SPINOCEREBELLAR ATAXIA 27A	193003 MONDO:0008654 OMIM:193003	FGF14	Causal	12123606 12489043 15470364 17978045 24252256 25530029 25566820 30017992 36493768	CTD, ClinVar, Disgenet, HPO	Spinocerebellar ataxia Phase 0 - rapid depolarisation
SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET	620174 C5774278 MONDO:0859340	FGF14	Causal	—	ClinVar, Disgenet, HPO	Spinocerebellar ataxia Phase 0 - rapid depolarisation
SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS	618087 C4748120 MONDO:0060758	CACNA1G	Causal	26456284 29878067 31229688	ClinVar, Disgenet, HPO	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
SPINOCEREBELLAR ATAXIA 43	617018 C4310763 MONDO:0014867	MME	Causal	—	ClinVar, Disgenet, GenCC, HPO	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
SPINOCEREBELLAR ATAXIA 44	617691 C4521563 MONDO:0033479	GRM1	Causal	28886343	ClinVar, Disgenet, GWAS catalog, HPO	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
SPINOCEREBELLAR ATAXIA 45	617769 MONDO:0033480	FAT2	Causal	12213440 29053796	ClinVar, GWAS catalog, HPO	—
SPINOCEREBELLAR ATAXIA 46	617770 MONDO:0033481	PLD3	Causal	29053796	ClinVar, GWAS catalog, HPO	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways +1 more
SPINOCEREBELLAR ATAXIA 47	C5888376 MONDO:0033482	PUM1	Causal	25768905 29474920 30903679 31422002 31859446	ClinVar, Disgenet, GWAS catalog	Spinocerebellar ataxia Golgi Associated Vesicle Biogenesis
SPINOCEREBELLAR ATAXIA 48	618093 C4748158 MONDO:0032526	STUB1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
SPINOCEREBELLAR ATAXIA 50	620158 C5774272 MONDO:0859334	NPTX1	Causal	34788392 35285082 35288776 35560436	ClinVar, Disgenet, HPO	—
SPINOCEREBELLAR ATAXIA 7	164500 MONDO:0016163	ATXN7	Causal	7477379 9288099 8908515	ClinVar, GWAS catalog, HPO	Ub-specific processing proteases
SPINOCEREBELLAR ATAXIA TYPE 1	98755 C0752120 MONDO:0008119	ATXN1	Causal	11673415 15148151 18337722 18418661 22053053 29533923 8198139 8358429 8619528	ClinVar, Disgenet, GWAS catalog, Orphanet	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
SPINOCEREBELLAR ATAXIA TYPE 11	98767 MONDO:0011464	TTBK2	Causal	18037885 20301317 20667868 21548880 2314154 23141541 27165044 30532139 31485862	ClinVar, GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
SPINOCEREBELLAR ATAXIA TYPE 13	98768 MONDO:0011529	KCNC3	Causal	16501573 18448641 19953606 20712895 21543613 24218544 25756792 25981959 28444220 29482223 31692161 31907387 33446253	ClinGen, ClinVar, Disgenet, Orphanet	Spinocerebellar ataxia Voltage gated Potassium channels
SPINOCEREBELLAR ATAXIA TYPE 14	98763 MONDO:0011540	PRKCG	Causal	—	ClinVar, GenCC, Orphanet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +64 more
SPINOCEREBELLAR ATAXIA TYPE 15/16	98769 MONDO:0011694	ITPR1	Causal	17590087 20082166 20301536 21367767 21555639 25794864 27108797	ClinVar, GWAS catalog, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
SPINOCEREBELLAR ATAXIA TYPE 17	98759 MONDO:0011781	TBP	Causal	—	ClinVar, GenCC, Orphanet	Basal transcription factors Huntington disease Spinocerebellar ataxia +18 more
SPINOCEREBELLAR ATAXIA TYPE 19/22	98772 MONDO:0011819	KCND3	Causal	22890214	ClinVar, GenCC, Orphanet	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
SPINOCEREBELLAR ATAXIA TYPE 2	98756 C0752121 MONDO:0008458	ATXN2	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
SPINOCEREBELLAR ATAXIA TYPE 21	98773 MONDO:0011833	TMEM240	Causal	25070513 32705938 30522958 29687291 26813285 34053174 35001331 36123134	ClinVar, Disgenet, Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 23	101108 MONDO:0012449	PDYN	Causal	21035104 23471613 25595316 26169942	ClinVar, GWAS catalog, Orphanet	Neuroactive ligand-receptor interaction Hormone signaling Spinocerebellar ataxia +8 more
SPINOCEREBELLAR ATAXIA TYPE 25	101111 MONDO:0012103	PNPT1	Causal	35411967	ClinVar, GenCC, Orphanet	RNA degradation
SPINOCEREBELLAR ATAXIA TYPE 26	101112 MONDO:0012246	EEF2	Causal	15732118 20301317 23001565	CTD, ClinVar, Orphanet	AMPK signaling pathway Oxytocin signaling pathway Peptide chain elongation +4 more
SPINOCEREBELLAR ATAXIA TYPE 27	MONDO:0012247	FGF14	Causal	—	ClinVar, GenCC	Spinocerebellar ataxia Phase 0 - rapid depolarisation
SPINOCEREBELLAR ATAXIA TYPE 28	101109 MONDO:0012450	AFG3L2	Causal	16251216 19625515 20208537 20725928 24814845 30389403 30910913	ClinVar, GWAS catalog, Orphanet	Spinocerebellar ataxia Processing of SMDT1
SPINOCEREBELLAR ATAXIA TYPE 29	208513 MONDO:0007298	ITPR1	Causal	11334652 22986007 25794864 27062503 28620721 29925855 30429331 31632679 37964426 8538767	ClinGen, ClinVar, GWAS catalog, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
SPINOCEREBELLAR ATAXIA TYPE 34	1955 MONDO:0007574	ELOVL4	Causal	24566826	ClinVar, GenCC, Orphanet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
SPINOCEREBELLAR ATAXIA TYPE 35	276193 MONDO:0013485	TGM6	Causal	21106500 22554020 23355175 24123792 25133958 25253745 25356970 28214262 28362824 28927799	ClinVar, GWAS catalog, Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 36	276198 MONDO:0013594	NOP56	Causal	—	ClinVar, GenCC, Orphanet	Ribosome biogenesis in eukaryotes Spinocerebellar ataxia Major pathway of rRNA processing in the nucleolus and cytosol
SPINOCEREBELLAR ATAXIA TYPE 38	423296 MONDO:0014417 C4518337	ELOVL5	Causal	18838740 25065913 27143115 29482223 31692161 32314013	ClinVar, GWAS catalog, Orphanet, Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
SPINOCEREBELLAR ATAXIA TYPE 4	C0752122	VPS13D	Causal	—	Disgenet	—
SPINOCEREBELLAR ATAXIA TYPE 40	423275 C4518336 MONDO:0014475	CCDC88C	Causal	25062847	ClinVar, Disgenet, GenCC, Orphanet	Wnt signaling pathway
SPINOCEREBELLAR ATAXIA TYPE 41	458798 C4225158 MONDO:0014626	TRPC3	Causal	25477146 31475037 34183866	ClinVar, Disgenet, GWAS catalog, Orphanet	Axon guidance Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +3 more
SPINOCEREBELLAR ATAXIA TYPE 42	458803 C4225205 MONDO:0014776	CACNA1G	Causal	26456284 26715324 29878067 31229688	ClinVar, Disgenet, Orphanet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
SPINOCEREBELLAR ATAXIA TYPE 5	98766 C0752123 MONDO:0010848	SPTBN2	Causal	16429157 20301317 20603325 22914369 25057192 25981959 29915382 30898343 31066025 31617442 31721007 33797620 33801522 9826670	ClinGen, ClinVar, Disgenet, GWAS catalog, Orphanet	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
SPINOCEREBELLAR ATAXIA TYPE 6	C0752124 98758 MONDO:0008457	CACNA1A	Causal	20301317	Disgenet, ClinVar, GenCC, Orphanet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
SPINOCEREBELLAR ATAXIA WITH EPILEPSY	254881 C1843852 MONDO:0016809	POLG	Causal	15824347	Disgenet, Orphanet	Base excision repair
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22	616948 C4310781 MONDO:0014845	VWA3B	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23	616949 MONDO:0014846	TDP2	Causal	—	ClinVar, GenCC, HPO	Nonhomologous End-Joining (NHEJ)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24	617133 C4310699 MONDO:0014934	UBA5	Causal	26872069 32179706 610553	ClinVar, Disgenet, GWAS catalog, HPO	Antigen processing: Ubiquitination & Proteasome degradation
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26	617633 C4539948 MONDO:0033116	XRCC1	Causal	28002403	ClinVar, Disgenet, GWAS catalog, HPO	Base excision repair Resolution of AP sites via the single-nucleotide replacement pathway APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway +3 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27	618369 C5193058 MONDO:0032706	GDAP2	Causal	30084953 32428220 32437512	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28	618800 C5394101 MONDO:0032923	THG1L	Causal	27307223 28097321 30214071 31168944 33682303	CTD, ClinGen, ClinVar, Disgenet, HPO	tRNA modification in the nucleus and cytosol
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29	C5543595 619389 MONDO:0030312	ASNS	Causal	—	Disgenet	Alanine, aspartate and glutamate metabolism Metabolic pathways Biosynthesis of amino acids +1 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29	C5543595 619389 MONDO:0030312	VPS41	Causal	—	ClinVar, Disgenet, GenCC, HPO	Autophagy - animal Efferocytosis Salmonella infection

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Spinocerebellar ataxia

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