Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DYSTONIA	MESH:D004421	ACTB	Unknown	16685646	CTD
		ANO3	Unknown	—	CTD
		ATP1A3	Unknown	15260953	CTD
		CHRNA4	Unknown	19404753	CTD
		CIZ1	Unknown	23222958	CTD
		COL6A3	Unknown	—	CTD
		CYP2D6	Unknown	16702617	CTD
		GCH1	Unknown	15389992	CTD
		GNAL	Unknown	23222958	CTD
		KMT2B	Unknown	27992417	CTD
		PRKRA	Unknown	—	CTD
		SCP2	Unknown	16685654	CTD
		SERAC1	Unknown	22683713	CTD
		SLC30A10	Unknown	22926781	CTD
		TH	Unknown	15505183	CTD
		THAP1	Unknown	23222958	CTD
		TOR1A	Unknown	20227500 21078339 23222958	CTD
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	C1851945 128100	EIF2AK2	Unknown	—	Disgenet
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	C1851945 128100	TOR1A	Unknown	—	Disgenet HPO
DYSTONIA 11, MYOCLONIC	159900	SGCE	Unknown	—	HPO
DYSTONIA 12	128235 C1868681 MESH:C538001 MONDO:0007496	ATP1A3	Causal	15260953 24631656	CTD ClinVar Disgenet GenCC HPO
		SCN2A	Causal	—	Disgenet
		PLA2G6	Unknown	—	Disgenet
DYSTONIA 16	210571 612067 MESH:C567430 MONDO:0012789 C2677567	PRKRA	Causal	18243799 25554729	CTD ClinVar GenCC HPO Orphanet
DYSTONIA 18	C1842534	PRRT2	Unknown	—	Disgenet
DYSTONIA 18	C1842534	SLC2A1	Unknown	—	Disgenet
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE	224500	HPCA	Unknown	—	HPO
DYSTONIA 22, ADULT-ONSET	620456 C5830658 MONDO:0957542	TSPOAP1	Unknown	—	ClinVar Disgenet HPO
DYSTONIA 22, JUVENILE-ONSET	620453 C5830645 MONDO:0957539	TSPOAP1	Causal	—	ClinVar Disgenet HPO
DYSTONIA 23	C3538999 MONDO:0013928	CACNA1B	Unknown	—	Disgenet
DYSTONIA 23	C3538999 MONDO:0013928	CIZ1	Unknown	—	Disgenet GenCC
DYSTONIA 24	615034 MONDO:0014019	ANO3	Causal	—	ClinVar GenCC HPO
DYSTONIA 25	615073 MONDO:0014033	GNAL	Causal	—	ClinVar GenCC HPO
DYSTONIA 26, MYOCLONIC	616398 C4225341	KCTD17	Unknown	—	Disgenet HPO
DYSTONIA 27	616411 C4225336 MONDO:0014627	COL6A3	Causal	26004199 26872670	ClinGen ClinVar Disgenet GWAS catalog HPO
DYSTONIA 28	C4310633 589618	ENPP1	Unknown	—	Disgenet
DYSTONIA 28	C4310633 589618	KMT2B	Unknown	27992417	Disgenet Orphanet
DYSTONIA 28, CHILDHOOD-ONSET	617284 MONDO:0015004	KMT2B	Causal	—	ClinVar GenCC HPO
DYSTONIA 3, TORSION, X-LINKED	314250 C1839130 MESH:C564048	TAF1	Unknown	—	CTD Disgenet HPO
DYSTONIA 30	619291 C5543312 MONDO:0025691	VPS16	Causal	27174565 32808683	ClinVar Disgenet GWAS catalog HPO
DYSTONIA 30	619291 C5543312 MONDO:0025691	PTPRA	Unknown	—	Disgenet
DYSTONIA 31	619565 C5562001 MONDO:0030455	AOPEP	Causal	—	ClinVar Disgenet HPO
DYSTONIA 32	619637 C5562029 MONDO:0030486	VPS11	Causal	—	ClinVar Disgenet HPO
DYSTONIA 33	619687 C5562054 MONDO:0030513	EIF2AK2	Causal	33236446	ClinVar Disgenet GWAS catalog HPO
DYSTONIA 33	619687 C5562054 MONDO:0030513	EIF2A	Unknown	—	Disgenet
DYSTONIA 34, MYOCLONIC	619724 C5676907 MONDO:0030538	KCNN2	Causal	—	ClinVar Disgenet HPO
DYSTONIA 35, CHILDHOOD-ONSET	619921 C5677003 MONDO:0030958	SHQ1	Unknown	—	ClinVar Disgenet HPO
DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS	620427 C5830592 MONDO:0957385	NUP54	Causal	36333996	ClinVar Disgenet GWAS catalog HPO
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT	128101	TUBB4A	Unknown	—	HPO

Dystonia