Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA	C4087347 MONDO:0020380	AFG3L2	Unknown	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		DAGLA	Unknown	—	Disgenet	Retrograde endocannabinoid signaling Aldosterone synthesis and secretion Arachidonate production from DAG
		DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		EP300	Unknown	—	Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		FAT1	Unknown	—	Disgenet	—
		FGF14	Unknown	—	Disgenet	Spinocerebellar ataxia Phase 0 - rapid depolarisation
		ITPR1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
		KIF26B	Unknown	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		MTCL1	Unknown	—	Disgenet	—
		NPTX1	Unknown	34788392 35285082 35560436	ClinGen, Disgenet, GWAS catalog	—
		OPA1	Unknown	—	Disgenet	Mitophagy - animal Spinocerebellar ataxia Regulation of Apoptosis
		PDYN	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Hormone signaling Spinocerebellar ataxia +8 more
		PRKCG	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +64 more
		SPTBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
		TTBK2	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA	C5575375 MONDO:0015244	COQ8A	Unknown	—	Disgenet	—
		CWF19L1	Unknown	25361784 26197978 27016154 33012273 36357319 36453471 36530930 37752213 38681507	ClinGen, Disgenet, GWAS catalog	—
		FGF14	Unknown	—	Disgenet, GenCC	Spinocerebellar ataxia Phase 0 - rapid depolarisation
		SEPTIN11	Unknown	—	Disgenet	Bacterial invasion of epithelial cells Shigellosis
		SPTBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
		TDP1	Unknown	—	Disgenet	Base excision repair Nonhomologous End-Joining (NHEJ)
		TWNK	Unknown	—	Disgenet	Spinocerebellar ataxia Transcriptional activation of mitochondrial biogenesis
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19 LIKE CELL CYCLE CONTROL FACTOR 1 DEFICIENCY	C4015301	CWF19L1	Unknown	—	Disgenet	—
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY	453521	CWF19L1	Unknown	25361784	Orphanet	—
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STIP1 HOMOLOGY AND U-BOX CONTAINING PROTEIN 1 DEFICIENCY	C5190574	JMJD8	Unknown	—	Disgenet	—
		RHBDL1	Unknown	—	Disgenet	—
		STUB1	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
		WDR24	Unknown	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY	412057	STUB1	Unknown	24113144 24312598 24742043 25258038	Orphanet	Ubiquitin mediated proteolysis Protein processing in endoplasmic reticulum Downregulation of TGF-beta receptor signaling +4 more
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA TYPE 1	C3683483	SYNE1	Unknown	—	Disgenet	Cytoskeleton in muscle cells
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY	352641 MONDO:0018129 C4706412	GBA2	Unknown	23332917	GenCC, Orphanet, Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, EPILEPSY, INTELLECTUAL DISABILITY SYNDROME DUE TO RUN AND CYSTEINE RICH DOMAIN CONTAINING BECLIN 1 INTERACTING PROTEIN DEFICIENCY	C3810326	RUBCN	Unknown	—	Disgenet	Autophagy - animal
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, EPILEPSY, INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY	C4750914	TDP2	Unknown	—	Disgenet	Nonhomologous End-Joining (NHEJ)
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, PSYCHOMOTOR DELAY SYNDROME	C5190803	SYT14	Unknown	—	Disgenet	—
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME	MONDO:0010061	PEX6	Unknown	26669662	CTD	Peroxisome Peroxisomal protein import
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY	404499	RUBCN	Unknown	23728897	Orphanet	Autophagy - animal
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY	404493	TDP2	Unknown	24658003	Orphanet	Nonhomologous End-Joining (NHEJ)
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY	284282	WWOX	Unknown	24369382	Orphanet	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 CEREBELLAR ATAXIA-MOVEMENT DISORDER SYNDROME	95434	VPS13D	Unknown	29604224	Orphanet	—
	95434	VPS41	Unknown	33764426	Orphanet	Autophagy - animal Efferocytosis Salmonella infection
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME	284271	SYT14	Unknown	21835308	Orphanet	—
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-SACCADIC INTRUSION SYNDROME	MONDO:0011811	VPS41	Unknown	33764426	GWAS catalog	Autophagy - animal Efferocytosis Salmonella infection
CEREBELLAR ATAXIA	C0007758 MONDO:0000437	AFG3L2	Unknown	—	Disgenet	Spinocerebellar ataxia Processing of SMDT1
		ATCAY	Unknown	14556008 23226316 29449188 33624863	Disgenet, GWAS catalog	—
		ATP6	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		ATP6V0A1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Lysosome +13 more
		ATP8	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Thermogenesis +10 more
		C11ORF65	Unknown	—	Disgenet	—
		CA8	Unknown	16118194 17376701 19461874 21812104 21937992 27217339 31199789 31693170 32808436	ClinGen, Disgenet, Orphanet	Nitrogen metabolism Metabolic pathways
		CACNA1G	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +5 more
		CAPRIN1	Unknown	—	Disgenet	—
		CIZ1	Unknown	—	Disgenet	—
		CLCN2	Unknown	—	Disgenet	Mineral absorption Stimuli-sensing channels
		COQ4	Unknown	—	Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		COX1	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX2	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		COX3	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +12 more
		CSMD1	Unknown	—	Disgenet	—
		CSNK1E	Unknown	—	Disgenet	FoxO signaling pathway Wnt signaling pathway Hedgehog signaling pathway +14 more
		DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		GBA2	Unknown	—	Disgenet	Other glycan degradation Sphingolipid metabolism Metabolic pathways +1 more
		ITPR1	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +53 more
		PEX6	Unknown	—	Disgenet	Peroxisome Peroxisomal protein import
		PRKCG	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +64 more
CEREBELLAR ATAXIA, CAYMAN TYPE	601238 94122 C1832585 MESH:C563363	ATCAY	Unknown	14556008 20301317	CTD, Disgenet, HPO, Orphanet	—

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Cerebellar ataxia

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