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
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	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
		HSPA8	Unknown	24413982	CTD, Disgenet	Spliceosome MAPK signaling pathway Protein processing in endoplasmic reticulum +22 more
		HYOU1	Unknown	24413982	CTD, Disgenet	Protein processing in endoplasmic reticulum Scavenging by Class F Receptors XBP1(S) activates chaperone genes
		NQO1	Unknown	24413982	CTD, Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors +5 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 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 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 6	183086	CACNA1A	Unknown	—	HPO	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
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 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 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 4	C0752122 MONDO:0010847	ZFHX3	Unknown	—	ClinVar, Disgenet, GenCC	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription
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 7	94147 C0752125 MONDO:0008120	ATXN7	Unknown	20301317	Disgenet, GenCC, Orphanet	Ub-specific processing proteases
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 20	616354	SNX14	Unknown	—	HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21	616719	SCYL1	Unknown	—	HPO	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	607317 C1846492 MESH:C537310	VPS13D	Unknown	—	CTD, Disgenet, HPO	—
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

«‹12 ›»

Spinocerebellar ataxia

Bookmark This Disease