Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SPINOCEREBELLAR ATAXIA 17	C1846707 MESH:C564616 607136	P4HB	Unknown	24413982	CTD, Disgenet	Protein processing in endoplasmic reticulum Collagen biosynthesis and modifying enzymes Detoxification of Reactive Oxygen Species +7 more
		PDIA3	Unknown	24413982	CTD, Disgenet	Protein processing in endoplasmic reticulum Antigen processing and presentation Human cytomegalovirus infection +6 more
		TBP	Unknown	—	CTD, Disgenet, HPO	Basal transcription factors Huntington disease Spinocerebellar ataxia +18 more
SPINOCEREBELLAR ATAXIA 18	C1843884	IFRD1	Unknown	—	Disgenet	—
SPINOCEREBELLAR ATAXIA 19	C1846367 607346 MESH:C537198	EEF2	Unknown	—	Disgenet	AMPK signaling pathway Oxytocin signaling pathway Peptide chain elongation +4 more
		KCND3	Unknown	—	CTD, Disgenet, HPO	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
		LAMA4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
SPINOCEREBELLAR ATAXIA 21	607454 C1843891 MESH:C537200	TMEM240	Unknown	—	CTD, Disgenet, HPO	—
SPINOCEREBELLAR ATAXIA 23	610245 C1853250 MESH:C537201	PDYN	Unknown	—	CTD, Disgenet, HPO	Neuroactive ligand-receptor interaction Hormone signaling Spinocerebellar ataxia +8 more
SPINOCEREBELLAR ATAXIA 25	608703 C1837518 MESH:C537202	PNPT1	Unknown	—	CTD, Disgenet, HPO	RNA degradation
SPINOCEREBELLAR ATAXIA 26	609306 C1836395 MESH:C537203	EEF2	Unknown	—	CTD, Disgenet, HPO	AMPK signaling pathway Oxytocin signaling pathway Peptide chain elongation +4 more
SPINOCEREBELLAR ATAXIA 28	C1853249	TUBB6	Unknown	—	Disgenet	Phagosome Gap junction Motor proteins +31 more
SPINOCEREBELLAR ATAXIA 31	117210 C1861736 MESH:C566146	BEAN1	Unknown	—	CTD, Disgenet, HPO	Spinocerebellar ataxia
SPINOCEREBELLAR ATAXIA 31	117210 C1861736 MESH:C566146	PLEKHG4	Unknown	—	Disgenet	—
SPINOCEREBELLAR ATAXIA 34	133190	ELOVL4	Unknown	—	HPO	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
SPINOCEREBELLAR ATAXIA 37	615945 C3889636	DAB1	Unknown	—	Disgenet, HPO	Spinocerebellar ataxia Reelin signalling pathway
SPINOCEREBELLAR ATAXIA 48	C4748158	JMJD8	Unknown	—	Disgenet	—
		RHBDL1	Unknown	—	Disgenet	—
		WDR24	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
SPINOCEREBELLAR ATAXIA 50	C5774272	SPG21	Unknown	—	Disgenet	Endocytosis
SPINOCEREBELLAR ATAXIA 51	620947 MONDO:0975800	THAP11	Unknown	—	ClinVar, HPO	Cobalamin transport and metabolism
SPINOCEREBELLAR ATAXIA 8	608768 C1837454 MESH:C537307	ATXN8	Unknown	—	CTD, Disgenet, HPO	—
SPINOCEREBELLAR ATAXIA TYPE 18	98771 MONDO:0011834	IFRD1	Unknown	—	GenCC, Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 25	101111	SCA25	Unknown	—	Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 31	217012 MONDO:0007296	BEAN1	Unknown	17611710 19878914 20301317 22049201 22992774 23607545 28362824	ClinVar, GWAS catalog, Orphanet	Spinocerebellar ataxia
SPINOCEREBELLAR ATAXIA TYPE 37	363710 MONDO:0014410	DAB1	Unknown	28686858 29939198 30588707	ClinVar, Disgenet, Orphanet	Spinocerebellar ataxia Reelin signalling pathway
SPINOCEREBELLAR ATAXIA TYPE 37	363710 MONDO:0014410	SCA37	Unknown	23700170	Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 4	98765	PLEKHG4	Unknown	18293026 20301317 21267591	Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 40	C4518336 MONDO:0014475	CCDC8	Unknown	25062847 30398676 33602173	Disgenet, GWAS catalog	Neddylation
SPINOCEREBELLAR ATAXIA TYPE 45	C4540400 589527	FAT2	Unknown	29053796	Disgenet, Orphanet	—
SPINOCEREBELLAR ATAXIA TYPE 45	C4540400 589527	SLC36A1	Unknown	—	Disgenet	Protein digestion and absorption Amino acid transport across the plasma membrane Proton-coupled neutral amino acid transporters
SPINOCEREBELLAR ATAXIA TYPE 46	589522 C4540404	PLD3	Unknown	29847346	Orphanet, Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways +1 more
SPINOCEREBELLAR ATAXIA TYPE 46	589522 C4540404	PRX	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
SPINOCEREBELLAR ATAXIA TYPE 7	C0752125	TCEAL4	Unknown	—	Disgenet	—
SPINOCEREBELLAR ATAXIA TYPE 8	98760 MONDO:0012116	ATXN8	Unknown	—	ClinVar, GenCC, Orphanet	—
SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1	94124	TDP1	Unknown	20301284	Orphanet	Base excision repair Nonhomologous End-Joining (NHEJ)
SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2	64753	PIK3R5	Unknown	22065524	Orphanet	cGMP-PKG signaling pathway Chemokine signaling pathway Phospholipase D signaling pathway +12 more
SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2	64753	SETX	Unknown	14770181 20301333	Orphanet	Amyotrophic lateral sclerosis
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	C1853761 MESH:C537308	APTX	Unknown	—	Disgenet	Base excision repair
		PIK3R5	Unknown	—	Disgenet	cGMP-PKG signaling pathway Chemokine signaling pathway Phospholipase D signaling pathway +12 more
		SETX	Unknown	—	CTD, Disgenet	Amyotrophic lateral sclerosis
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12	C3280452	MAF	Unknown	—	Disgenet	Th1 and Th2 cell differentiation Transcriptional misregulation in cancer Inflammatory bowel disease
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	213200 C1859298 MESH:C565865	PMPCA	Unknown	—	CTD, Disgenet, HPO	Processing of SMDT1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	617584 C4539808 MONDO:0033115	ATG5	Unknown	26812546	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Autophagy - other Autophagy - animal Longevity regulating pathway +8 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3	C1849094	PEX6	Unknown	—	Disgenet	Peroxisome Peroxisomal protein import
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34	613227	CA8	Unknown	—	HPO	Nitrogen metabolism Metabolic pathways
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4	C1846492	VPS41	Unknown	—	Disgenet	Autophagy - animal Efferocytosis Salmonella infection
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5	MESH:C537311	ZNF592	Unknown	20531441	CTD	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7	609270 C1836474 MESH:C563753	TPP1	Unknown	—	CTD, Disgenet, HPO	Lysosome XBP1(S) activates chaperone genes
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8	C1853116 610743 MESH:C565188	ESR1	Unknown	—	Disgenet	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8	C1853116 610743 MESH:C565188	SYNE1	Unknown	27782104 31129264 31703138 32870032 33526008	CTD, Disgenet, HPO	Cytoskeleton in muscle cells
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	C2677589	COQ8A	Unknown	—	Disgenet	—
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY	MESH:C537313	TDP1	Unknown	—	CTD	Base excision repair Nonhomologous End-Joining (NHEJ)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2	MONDO:0018996	PIK3R5	Unknown	22065524	Disgenet	cGMP-PKG signaling pathway Chemokine signaling pathway Phospholipase D signaling pathway +12 more
SPINOCEREBELLAR ATAXIAS	MESH:D020754	CIC	Unknown	18337722	CTD	Spinocerebellar ataxia

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Spinocerebellar ataxia

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