Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT CEREBELLAR ATAXIA	C4087347 MONDO:0020380	AFG3L2	Unknown	—	Disgenet
		DAGLA	Unknown	—	Disgenet
		DYNC1H1	Unknown	—	Disgenet
		EP300	Unknown	—	Disgenet
		FAT1	Unknown	—	Disgenet
		FGF14	Unknown	—	Disgenet
		ITPR1	Unknown	—	Disgenet
		KIF26B	Unknown	—	Disgenet
		MTCL1	Unknown	—	Disgenet
		NPTX1	Unknown	34788392 35285082 35560436	ClinGen Disgenet GWAS catalog
		OPA1	Unknown	—	Disgenet
		PDYN	Unknown	—	Disgenet
		PRKCG	Unknown	—	Disgenet
		SPTBN2	Unknown	—	Disgenet
		TTBK2	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA	C5575375 MONDO:0015244	ANO10	Causal	—	Disgenet
		ERCC4	Causal	—	Disgenet
		PRDX3	Causal	—	Disgenet
		SYNE1	Causal	—	Disgenet
		VPS13D	Causal	—	Disgenet
		COQ8A	Unknown	—	Disgenet
		CWF19L1	Unknown	25361784 26197978 27016154 33012273 36357319 36453471 36530930 37752213 38681507	ClinGen Disgenet GWAS catalog
		FGF14	Unknown	—	Disgenet GenCC
		SEPTIN11	Unknown	—	Disgenet
		SPTBN2	Unknown	—	Disgenet
		TDP1	Unknown	—	Disgenet
		TWNK	Unknown	—	Disgenet
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
		WDR24	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY	412057	STUB1	Unknown	24113144 24312598 24742043 25258038	Orphanet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA TYPE 1	C3683483	SYNE1	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA WITH LATE-ONSET SPASTICITY	352641 MONDO:0018129 C4706412	GBA2	Unknown	23332917	GenCC Orphanet
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
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, EPILEPSY, INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY	C4750914	TDP2	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA, PSYCHOMOTOR DELAY SYNDROME	C5190803	SYT14	Unknown	—	Disgenet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME	MONDO:0010061	PEX6	Unknown	26669662	CTD
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY	404499	RUBCN	Unknown	23728897	Orphanet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY	404493	TDP2	Unknown	24658003	Orphanet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY	284282	WWOX	Unknown	24369382	Orphanet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-MOVEMENT DISORDER SYNDROME	95434	VPS13D	Unknown	29604224	Orphanet
	95434	VPS41	Unknown	33764426	Orphanet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-PSYCHOMOTOR DELAY SYNDROME	284271	SYT14	Unknown	21835308	Orphanet
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-SACCADIC INTRUSION SYNDROME	MONDO:0011811	VPS13D	Causal	29307555 29518281 29604224 31876103	CTD ClinVar
	MONDO:0011811	VPS41	Unknown	33764426	GWAS catalog
CEREBELLAR ATAXIA	C0007758	ATM	Causal	—	Disgenet

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Cerebellar ataxia