Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATAXIA, SPINOCEREBELLAR	C0087012	AFG3L2	Unknown	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		ANO10	Unknown	—	Disgenet	Stimuli-sensing channels
		ATXN1	Unknown	—	Disgenet	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN1L	Unknown	—	Disgenet	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN2	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN7	Unknown	—	Disgenet	Ub-specific processing proteases
		CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CACNA1G	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
		CCDC88C	Unknown	—	Disgenet	Wnt signaling pathway
		CWF19L1	Unknown	—	Disgenet	—
		ELOVL5	Unknown	—	Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
		FGF14	Unknown	—	Disgenet	Spinocerebellar ataxia Phase 0 - rapid depolarisation
		FOXC1	Unknown	—	Disgenet	—
		GFI1	Unknown	—	Disgenet	—
		GRID2	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Long-term depression
		GRM1	Unknown	—	Disgenet	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
		LRRK2	Unknown	—	Disgenet	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		MME	Unknown	—	Disgenet	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
		NOP56	Unknown	—	Disgenet	Ribosome biogenesis in eukaryotes Spinocerebellar ataxia Major pathway of rRNA processing in the nucleolus and cytosol
		NPTX1	Unknown	—	Disgenet	—
		POLG	Unknown	—	Disgenet	Base excision repair
		PPP2R2B	Unknown	—	Disgenet	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
		PRKCG	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +64 more
		RBM17	Unknown	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway
		RUBCN	Unknown	—	Disgenet	Autophagy - animal
		SAMD9L	Unknown	—	Disgenet	—
		SCYL1	Unknown	—	Disgenet	—
		SNX14	Unknown	—	Disgenet	—
		SPTBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
		STUB1	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
		SYT14	Unknown	—	Disgenet	—
		TDP2	Unknown	—	Disgenet	Nonhomologous End-Joining (NHEJ)
		TGM6	Unknown	—	Disgenet	—
		TRPC3	Unknown	—	Disgenet	Axon guidance Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +3 more
		TTBK2	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		UBA5	Unknown	—	Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
		VPS13D	Unknown	—	Disgenet	—
		VWA3B	Unknown	—	Disgenet	—
		WWOX	Unknown	—	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
		ZFHX3	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription
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 1	164400	ATXN1	Unknown	—	HPO	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
SPINOCEREBELLAR ATAXIA 10	603516 C1963674 MESH:C566874	ATXN10	Unknown	—	CTD, Disgenet, HPO	Spinocerebellar ataxia
SPINOCEREBELLAR ATAXIA 11	604432 C1858351 MESH:C565772	TTBK2	Unknown	—	CTD, Disgenet, HPO	Anchoring of the basal body to the plasma membrane
SPINOCEREBELLAR ATAXIA 12	604326 C1858501 MESH:C565790	PPP2R2B	Unknown	—	CTD, Disgenet, HPO	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
SPINOCEREBELLAR ATAXIA 13	605259 C1854488 MESH:C537195	KCNC3	Unknown	—	CTD, Disgenet, HPO	Spinocerebellar ataxia Voltage gated Potassium channels
SPINOCEREBELLAR ATAXIA 14	605361 C1854369 MESH:C537196	PRKCG	Unknown	—	CTD, Disgenet, HPO	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +64 more
SPINOCEREBELLAR ATAXIA 15	606658 C1847725 MESH:C564685	ITPR1	Unknown	22986007	CTD, Disgenet, HPO	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
		RUBCN	Unknown	—	Disgenet	Autophagy - animal
		SUMF1	Unknown	—	Disgenet	Lysosome Glycosphingolipid metabolism The activation of arylsulfatases
SPINOCEREBELLAR ATAXIA 17	C1846707 MESH:C564616 607136	ATP5F1B	Unknown	24413982	CTD, Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +12 more
		HMOX1	Unknown	24413982	CTD, Disgenet	Porphyrin metabolism Metabolic pathways HIF-1 signaling pathway +11 more
		HSPA5	Unknown	24413982	CTD, Disgenet	Protein export Protein processing in endoplasmic reticulum Antigen processing and presentation +12 more
		TBP	Unknown	—	CTD, Disgenet, HPO	Basal transcription factors Huntington disease Spinocerebellar ataxia +18 more
SPINOCEREBELLAR ATAXIA 2	183090	ATXN2	Unknown	—	HPO	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
SPINOCEREBELLAR ATAXIA 27	C1836383 MESH:C537204	FGF14	Unknown	26089778	CTD, Disgenet	Spinocerebellar ataxia Phase 0 - rapid depolarisation
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 28	610246 C1853249 MESH:C537205	AFG3L2	Unknown	—	CTD, Disgenet, HPO	Spinocerebellar ataxia Processing of SMDT1
SPINOCEREBELLAR ATAXIA 29	117360 C1861732 MESH:C537206	ITPR1	Unknown	22986007	CTD, Disgenet, HPO	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
SPINOCEREBELLAR ATAXIA 35	613908 C3888031	TGM6	Unknown	—	Disgenet, HPO	—
SPINOCEREBELLAR ATAXIA 36	614153 C3472711	NOP56	Unknown	—	Disgenet, HPO	Ribosome biogenesis in eukaryotes Spinocerebellar ataxia Major pathway of rRNA processing in the nucleolus and cytosol
SPINOCEREBELLAR ATAXIA 38	615957	ELOVL5	Unknown	—	HPO	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
SPINOCEREBELLAR ATAXIA 4	600223	ZFHX3	Unknown	—	HPO	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription
SPINOCEREBELLAR ATAXIA 40	616053	CCDC88C	Unknown	—	HPO	Wnt signaling pathway
SPINOCEREBELLAR ATAXIA 41	616410	TRPC3	Unknown	—	HPO	Axon guidance Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +3 more
SPINOCEREBELLAR ATAXIA 42	616795	CACNA1G	Unknown	—	HPO	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
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 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 49	619806 C5676950 MONDO:0030805	SAMD9L	Unknown	—	ClinVar, Disgenet, GenCC, HPO	—
SPINOCEREBELLAR ATAXIA 5	600224	SPTBN2	Unknown	—	HPO	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
SPINOCEREBELLAR ATAXIA 50	620158 C5774272 MONDO:0859334	NPTX1	Causal	34788392 35285082 35288776 35560436	ClinVar, Disgenet, HPO	—
SPINOCEREBELLAR ATAXIA 6	183086	CACNA1A	Unknown	—	HPO	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
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 10	98761 MONDO:0011330	ATXN10	Unknown	11506407 15505178 16385455 16717236 16924013 17420323 19936807 20548952 22065565 24278426	ClinVar, GWAS catalog, Orphanet	Spinocerebellar ataxia
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 12	98762 MONDO:0011439	PPP2R2B	Unknown	10581021 11198281 16138911 20533062	ClinVar, GWAS catalog, Orphanet	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
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 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 27	MONDO:0012247	FGF14	Causal	—	ClinVar, GenCC	Spinocerebellar ataxia Phase 0 - rapid depolarisation
SPINOCEREBELLAR ATAXIA TYPE 27A	98764	FGF14	Unknown	—	Orphanet	Spinocerebellar ataxia Phase 0 - rapid depolarisation
SPINOCEREBELLAR ATAXIA TYPE 27B	675216 C5925077	FGF14	Unknown	36516086	Disgenet, Orphanet	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 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 MONDO:0010847	VPS13D	Causal	—	Disgenet	—
SPINOCEREBELLAR ATAXIA TYPE 4	C0752122 MONDO:0010847	ZFHX3	Unknown	—	ClinVar, Disgenet, GenCC	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription
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 43	497764	MME	Unknown	27583304	Orphanet	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
SPINOCEREBELLAR ATAXIA TYPE 44	631095 C5816774	GRM1	Unknown	28886343	Disgenet, Orphanet	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
SPINOCEREBELLAR ATAXIA TYPE 48	631103 C5816773	STUB1	Unknown	30381368	Disgenet, Orphanet	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
SPINOCEREBELLAR ATAXIA TYPE 49	631106 C5816772	SAMD9L	Unknown	35310830	Disgenet, Orphanet	—
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	98758 MONDO:0008457 C0752124	CACNA1A	Causal	20301317	ClinVar, GenCC, Orphanet, Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
SPINOCEREBELLAR ATAXIA TYPE 7	94147 C0752125 MONDO:0008120	ATXN7	Unknown	20301317	Disgenet, GenCC, Orphanet	Ub-specific processing proteases
SPINOCEREBELLAR ATAXIA WITH EPILEPSY	254881 C1843852 MONDO:0016809	POLG	Causal	15824347	Disgenet, Orphanet	Base excision repair
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10	613728 C3150998	ANO10	Unknown	—	Disgenet, HPO	Stimuli-sensing channels
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11	614229	SYT14	Unknown	—	HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	614322 C3280452	WWOX	Unknown	—	Disgenet, HPO	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
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13	614831 C3553816	GRM1	Unknown	—	Disgenet, HPO	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14	615386	SPTBN2	Unknown	—	HPO	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15	615705	RUBCN	Unknown	—	HPO	Autophagy - animal
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	615768	STUB1	Unknown	—	HPO	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	616127	CWF19L1	Unknown	—	HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18	616204 C4015505	GRID2	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Long-term depression
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	213200 C1859298 MESH:C565865	PMPCA	Unknown	—	CTD, Disgenet, HPO	Processing of SMDT1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20	616354	SNX14	Unknown	—	HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21	616719	SCYL1	Unknown	—	HPO	—
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 4	607317 C1846492 MESH:C537310	VPS13D	Unknown	—	CTD, Disgenet, HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7	609270 C1836474 MESH:C563753	TPP1	Unknown	—	CTD, Disgenet, HPO	Lysosome XBP1(S) activates chaperone genes
SPINOCEREBELLAR ATAXIAS	MESH:D020754	AFG3L2	Unknown	20208537	CTD	Spinocerebellar ataxia Processing of SMDT1
		ANO10	Unknown	—	CTD	Stimuli-sensing channels
		ATXN1	Unknown	11719269 16122429 17322884 18337722	CTD	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN1L	Unknown	17322884	CTD	Notch signaling pathway Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN2	Unknown	19224595 20065139	CTD	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		ATXN7	Unknown	25664129	CTD	Ub-specific processing proteases
		CACNA1A	Unknown	11985388 16899342	CTD	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CACNA1G	Unknown	—	CTD	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
		CCDC88C	Unknown	—	CTD	Wnt signaling pathway
		CWF19L1	Unknown	—	CTD	—
		ELOVL5	Unknown	—	CTD	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +4 more
		FOXC1	Unknown	19668217	CTD	—
		GFI1	Unknown	16122429	CTD	—
		GRID2	Unknown	—	CTD	Neuroactive ligand-receptor interaction Long-term depression
		GRM1	Unknown	—	CTD	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
		MME	Unknown	—	CTD	Renin-angiotensin system Hematopoietic cell lineage Protein digestion and absorption +3 more
		NOP56	Unknown	—	CTD	Ribosome biogenesis in eukaryotes Spinocerebellar ataxia Major pathway of rRNA processing in the nucleolus and cytosol
		PPP2R2B	Unknown	18940801	CTD	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
		PRKCG	Unknown	20398063	CTD	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +64 more
		RBM17	Unknown	18337722	CTD	Spliceosome mRNA Splicing - Major Pathway
		RUBCN	Unknown	—	CTD	Autophagy - animal
		SCYL1	Unknown	—	CTD	—
		SNX14	Unknown	—	CTD	—
		SPTBN2	Unknown	23236289 23838597 28636205 29196973	CTD	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
		STUB1	Unknown	—	CTD	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
		SYT14	Unknown	—	CTD	—
		TDP2	Unknown	—	CTD	Nonhomologous End-Joining (NHEJ)
		TGM6	Unknown	—	CTD	—
		TRPC3	Unknown	—	CTD	Axon guidance Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +3 more
		TTBK2	Unknown	18037885	CTD	Anchoring of the basal body to the plasma membrane
		UBA5	Unknown	—	CTD	Antigen processing: Ubiquitination & Proteasome degradation
		VWA3B	Unknown	—	CTD	—
		WWOX	Unknown	24369382	CTD	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
		ZFHX3	Unknown	—	CTD	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription

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Spinocerebellar ataxia

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