Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT SPASTIC ATAXIA	C5679899	COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1	251282	VAMP1	Unknown	22958904	Orphanet	SNARE interactions in vesicular transport Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) +1 more
SPASTIC ATAXIA	C1849156	AFG3L2	Causal	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		AMPD2	Causal	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
		ARSA	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +3 more
		ATP1A2	Causal	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		ATP2B3	Causal	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		ATP7B	Causal	—	Disgenet	Platinum drug resistance Mineral absorption Ion transport by P-type ATPases
		C19ORF12	Causal	—	Disgenet	—
		CACNA1G	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
		CACNB4	Causal	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CCDC88C	Causal	—	Disgenet	Wnt signaling pathway
		CEP290	Causal	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CLN6	Causal	—	Disgenet	—
		COQ4	Causal	—	Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		CYP7B1	Causal	—	Disgenet	Primary bile acid biosynthesis Steroid hormone biosynthesis Synthesis of bile acids and bile salts +4 more
		DAB1	Causal	—	Disgenet	Spinocerebellar ataxia Reelin signalling pathway
		DARS2	Causal	—	Disgenet	Aminoacyl-tRNA biosynthesis Mitochondrial tRNA aminoacylation
		DNMT1	Causal	—	Disgenet	Cysteine and methionine metabolism Metabolic pathways MicroRNAs in cancer +2 more
		ELOVL4	Causal	—	Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +1 more
		ERCC4	Causal	—	Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		EXOSC8	Causal	—	Disgenet	RNA degradation ATF4 activates genes in response to endoplasmic reticulum stress mRNA decay by 3' to 5' exoribonuclease +4 more
		FLNC	Causal	—	Disgenet	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		GALC	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Lysosome +1 more
		GLB1	Causal	—	Disgenet	Galactose metabolism Other glycan degradation Glycosaminoglycan degradation +11 more
		HARS1	Causal	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		HPDL	Causal	—	Disgenet	—
		MTPAP	Causal	—	Disgenet	—
		PEX10	Causal	—	Disgenet	Peroxisome E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import
		PNPLA6	Causal	—	Disgenet	Glycerophospholipid metabolism Glycerophospholipid catabolism
		POLR3A	Causal	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
		PPT1	Causal	—	Disgenet	Fatty acid elongation Metabolic pathways Fatty acid metabolism +2 more
		PUM1	Causal	—	Disgenet	Spinocerebellar ataxia Golgi Associated Vesicle Biogenesis
		SETX	Causal	—	Disgenet	Amyotrophic lateral sclerosis
		SPG7	Causal	—	Disgenet	Processing of SMDT1
		SPTAN1	Causal	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Causal	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SYNE1	Causal	—	Disgenet	Cytoskeleton in muscle cells
		TMEM67	Causal	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TUBB3	Causal	—	Disgenet	Phagosome Gap junction Motor proteins +31 more
		AMACR	Unknown	—	Disgenet	Primary bile acid biosynthesis Metabolic pathways Peroxisome +4 more
		APOB	Unknown	—	Disgenet	Fat digestion and absorption Vitamin digestion and absorption Cholesterol metabolism +20 more
		CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CHP1	Unknown	—	Disgenet	Hyaluronan uptake and degradation
		FA2H	Unknown	—	Disgenet	Sphingolipid de novo biosynthesis
		GJC2	Unknown	—	Disgenet	Gap junction assembly
		ITPR1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
		KCNMA1	Unknown	—	Disgenet	cGMP-PKG signaling pathway Vascular smooth muscle contraction Insulin secretion +4 more
		KIF1A	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		KIF1C	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC ATAXIA 1	MONDO:0007164	VAMP1	Causal	22958904 27957547	ClinVar, GWAS catalog	SNARE interactions in vesicular transport Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) +1 more
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT	108600	VAMP1	Unknown	—	HPO	SNARE interactions in vesicular transport Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) +1 more
SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE	620666 C5882738 MONDO:0958009	COQ4	Causal	—	ClinVar, Disgenet, HPO	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
SPASTIC ATAXIA 2	MONDO:0012651	KIF1C	Causal	24319291 24482476	ClinVar, GWAS catalog	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE	611302	KIF1C	Unknown	—	HPO	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
SPASTIC ATAXIA 4	MONDO:0013354	MTPAP	Causal	20970105 24651433 25008111 27391121 27959697 31779033	ClinVar, GenCC	—
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE	613672 C3150925 OMIM:613672	MTPAP	Unknown	—	CTD, Disgenet, HPO	—
SPASTIC ATAXIA 5	MONDO:0013776	AFG3L2	Causal	32248051 28449981 22022284 32237276 31111429	ClinVar, GWAS catalog	Spinocerebellar ataxia Processing of SMDT1
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	614487 C3280977 OMIM:614487	AFG3L2	Unknown	—	CTD, Disgenet, HPO	Spinocerebellar ataxia Processing of SMDT1
SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE	618438 C5193100 MONDO:0032753	CHP1	Causal	29379881	ClinVar, Disgenet, HPO	Hyaluronan uptake and degradation

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Spastic ataxia

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