Episodic 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
EPISODIC ATAXIA	C1720189	AHNAK2	Unknown	—	Disgenet	Salmonella infection
		CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CACNB4	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		KCNA1	Unknown	—	Disgenet	Voltage gated Potassium channels
		SCN2A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SLC1A3	Unknown	—	Disgenet	Synaptic vesicle cycle Glutamatergic synapse Huntington disease +4 more
		TANGO2	Unknown	—	Disgenet	—
episodic ataxia type 1	37612 C1719788 MONDO:0008047	KCNA1	Causal	20301785	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	Voltage gated Potassium channels
EPISODIC ATAXIA TYPE 2	MONDO:0007163	CACNA1A	Causal	—	ClinVar, GenCC	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
EPISODIC ATAXIA TYPE 5	211067 MONDO:0013464	CACNB4	Unknown	10762541	CTD, ClinVar, Orphanet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
EPISODIC ATAXIA TYPE 6	209967 MONDO:0012982	SLC1A3	Causal	16116111 19139306 25497598 27829685 29062094 29066757 29208948 32741053 32754645 32954283 8123008 9753165	ClinGen, ClinVar, GWAS catalog, Orphanet	Synaptic vesicle cycle Glutamatergic synapse Huntington disease +4 more
EPISODIC ATAXIA WITH SLURRED SPEECH	C4015108	UBR4	Unknown	—	Disgenet	Human papillomavirus infection Viral carcinogenesis Neutrophil degranulation +1 more
EPISODIC ATAXIA, TYPE 1	160120 MESH:C563278	KCNA1	Unknown	17575281	CTD, HPO	Voltage gated Potassium channels
EPISODIC ATAXIA, TYPE 2	108500 C1720416 MESH:C535506	CACNA1A	Unknown	11985388	CTD, Disgenet, HPO	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
EPISODIC ATAXIA, TYPE 5	613855 C1866039 MESH:C566601	CACNB4	Unknown	—	CTD, Disgenet, HPO	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
EPISODIC ATAXIA, TYPE 6	612656 C2675211 MESH:C567207	SLC1A3	Unknown	—	CTD, Disgenet, HPO	Synaptic vesicle cycle Glutamatergic synapse Huntington disease +4 more
EPISODIC ATAXIA, TYPE 9	618924 C5394520 MONDO:0030064	SCN2A	Causal	1287821998 20956790 26645390 27159988 28065826 30165711	ClinVar, Disgenet, HPO, Orphanet	Taste transduction Phase 0 - rapid depolarisation