Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SPASTIC ATAXIA	C1849156	LYST	Unknown	—	Disgenet
		MKS1	Unknown	—	Disgenet
		NAGLU	Unknown	—	Disgenet
		PIK3R5	Unknown	—	Disgenet
		PLA2G6	Unknown	—	Disgenet
		SACS	Unknown	—	Disgenet
		SCN2A	Unknown	—	Disgenet
		SCN8A	Unknown	—	Disgenet
		SEPSECS	Unknown	—	Disgenet
		SLC25A46	Unknown	—	Disgenet
		SPAST	Unknown	—	Disgenet
		SPG11	Unknown	—	Disgenet
		SYNE2	Unknown	—	Disgenet
		WFS1	Unknown	—	Disgenet
SPASTIC ATAXIA 1	MONDO:0007164	VAMP1	Causal	22958904 27957547	ClinVar GWAS catalog
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT	108600	VAMP1	Unknown	—	HPO
SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE	620666 C5882738 MONDO:0958009	COQ4	Causal	—	ClinVar Disgenet HPO
SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE	620666 C5882738 MONDO:0958009	TRUB2	Unknown	—	Disgenet
SPASTIC ATAXIA 11, AUTOSOMAL DOMINANT	621226	TUBA4A	Unknown	—	ClinVar
SPASTIC ATAXIA 2	MONDO:0012651	KIF1C	Causal	24319291 24482476	ClinVar GWAS catalog
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE	611302	KIF1C	Unknown	—	HPO
SPASTIC ATAXIA 3	MONDO:0012664	MARS2	Causal	—	ClinVar GenCC
SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE	611390	MARS2	Unknown	—	HPO
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
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	614487 C3280977 OMIM:614487	AFG3L2	Unknown	—	CTD Disgenet HPO
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	614487 C3280977 OMIM:614487	TUBB6	Unknown	—	Disgenet
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY	617560 MONDO:0033043	NKX6-2	Causal	—	ClinVar GenCC HPO
SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE	618438 C5193100 MONDO:0032753	CHP1	Causal	29379881	ClinVar Disgenet HPO
SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE	MESH:C536787	SACS	Unknown	—	CTD
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	270550 C1849140	SACS	Unknown	—	Disgenet HPO
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	270550 C1849140	SPAST	Unknown	—	Disgenet
SPASTIC ATAXIA, DYSARTHRIA DUE TO GLUTAMINASE DEFICIENCY	C5681336	GLS	Unknown	—	Disgenet
SPASTIC ATAXIA-DYSARTHRIA DUE TO GLUTAMINASE DEFICIENCY	557056	GLS	Unknown	30575854 30970188 30987386	Orphanet

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Spastic ataxia