Cerebellar ataxia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA	C5575375	ANO10	Causal	—	Disgenet	Stimuli-sensing channels
		ERCC4	Causal	—	Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		PRDX3	Causal	35766882	Disgenet	Detoxification of Reactive Oxygen Species
		SYNE1	Causal	—	Disgenet	Cytoskeleton in muscle cells
		VPS13D	Causal	—	Disgenet	—
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-SACCADIC INTRUSION SYNDROME	MONDO:0011811	VPS13D	Causal	29307555 29518281 29604224 31876103	CTD, ClinVar	—
CEREBELLAR ATAXIA	C0007758 MESH:D002524	ATM	Causal	—	Disgenet	Platinum drug resistance Homologous recombination NF-kappa B signaling pathway +33 more
		CACNA1A	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CEP104	Causal	—	Disgenet	—
		COQ8A	Causal	—	Disgenet	—
		FGF14	Causal	—	Disgenet	Spinocerebellar ataxia Phase 0 - rapid depolarisation
		FLNC	Causal	—	Disgenet	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		GRM1	Causal	—	Disgenet	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
		KCNJ10	Causal	—	Disgenet	Gastric acid secretion Huntington disease Activation of G protein gated Potassium channels +2 more
		KCNN2	Causal	—	Disgenet	Serotonergic synapse Insulin secretion GnRH secretion +2 more
		KIF1C	Causal	—	Disgenet	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		LRCH2	Causal	—	Disgenet	—
		MFN2	Causal	—	Disgenet	Mitophagy - animal NOD-like receptor signaling pathway Parkinson disease +3 more
		MLC1	Causal	—	Disgenet	—
		MTCL1	Causal	—	Disgenet	—
		PCDH12	Causal	—	Disgenet	—
		PLA2G6	Causal	—	Disgenet	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +12 more
		PMM2	Causal	—	Disgenet	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		PNPLA6	Causal	—	Disgenet	Glycerophospholipid metabolism Glycerophospholipid catabolism
		PTRH2	Causal	—	Disgenet	Ub-specific processing proteases
		SATB2	Causal	—	Disgenet	SUMOylation of chromatin organization proteins
		SCN8A	Causal	16236810	CTD, Disgenet	Phase 0 - rapid depolarisation
		SETX	Causal	—	Disgenet	Amyotrophic lateral sclerosis
		SLC2A1	Causal	—	Disgenet	HIF-1 signaling pathway Efferocytosis Insulin secretion +15 more
		SNX14	Causal	25848753	CTD, Disgenet	—
		SPTBN2	Causal	—	Disgenet	Cytoskeleton in muscle cells Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases +5 more
		STXBP1	Causal	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		SURF1	Causal	—	Disgenet	TP53 Regulates Metabolic Genes Respiratory electron transport
		SYNE1	Causal	—	Disgenet	Cytoskeleton in muscle cells
		SYNGAP1	Causal	—	Disgenet	Ras signaling pathway Regulation of RAS by GAPs
		TDP2	Causal	—	Disgenet	Nonhomologous End-Joining (NHEJ)
		UNC13A	Causal	—	Disgenet	Synaptic vesicle cycle
		WDR81	Causal	—	Disgenet	—