Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
LONG QT SYNDROME	C0023976 MONDO:0002442PS192500	SCN3B	Unknown	—	Disgenet
		SCN4A	Unknown	—	Disgenet
		SCN4B	Unknown	—	ClinGen Disgenet
		SIRT6	Unknown	—	Disgenet
		SLC2A5	Unknown	—	Disgenet
		SLMAP	Unknown	—	Disgenet
		SNTA1	Unknown	—	ClinGen Disgenet
		SSUH2	Unknown	—	Disgenet
		SYNE2	Unknown	—	Disgenet
		TAF10	Unknown	—	Disgenet
		TECRL	Unknown	—	Disgenet
		TGFB3	Unknown	—	Disgenet
		TMEM43	Unknown	—	Disgenet
		TMPO	Unknown	—	Disgenet
		TNNI3	Unknown	—	Disgenet
		TRDN	Unknown	25922419 26768964	CTD ClinGen ClinVar Disgenet
		TRPM4	Unknown	—	Disgenet
		TTN	Unknown	—	Disgenet
		UBR4	Unknown	—	Disgenet
		UBR5	Unknown	—	Disgenet
		VCL	Unknown	—	Disgenet
		WDR26	Unknown	—	Disgenet
LONG QT SYNDROME 1	192500 MONDO:0008646 MONDO:0100316	KCNQ1	Causal	31983240 9020846 23392653 23591039 27041150 27868350 11226272 25187895	ClinVar GWAS catalog HPO
LONG QT SYNDROME 10	611819 C2678484 MESH:C567514 MONDO:0012737	SCN4B	Unknown	—	CTD ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 11	611820 C2678483 MESH:C567513 MONDO:0012738	AKAP9	Causal	—	CTD ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 12	612955 C2751830 MESH:C567842 MONDO:0013062	SNTA1	Unknown	—	CTD ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 13	613485 C3150733 MONDO:0013279 OMIM:613485	KCNJ5	Unknown	—	CTD ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 14	616247 C4015671 MONDO:0014548 OMIM:616247	CALM1	Causal	23388215 26969752 31983240 31170290	CTD ClinVar Disgenet HPO
LONG QT SYNDROME 15	616249 C4015695 MONDO:0014550 OMIM:616249	CALM2	Causal	23388215 26969752 31983240 31170290 27765793	CTD ClinVar Disgenet HPO
LONG QT SYNDROME 16	618782 C5394068 MONDO:0032915	CALM3	Causal	—	ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 2	613688 C3150943 MESH:C563614 MONDO:0013367	KCNH2	Causal	—	CTD ClinVar Disgenet GenCC HPO
		KCNQ1	Causal	—	Disgenet
		AKAP9	Unknown	—	Disgenet
		ALG10B	Unknown	3707172	CTD ClinVar Disgenet GWAS catalog
		ANK2	Unknown	—	Disgenet
		LRP12	Unknown	—	Disgenet
		SCN5A	Unknown	—	Disgenet
LONG QT SYNDROME 3	603830 C1859062 MESH:C565840 MONDO:0011377	SCN5A	Causal	—	CTD ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 4	C1833154	ANK2	Unknown	—	Disgenet
LONG QT SYNDROME 5	613695 C1867904 MESH:C566766 MONDO:0013372	KCNE1	Causal	—	CTD ClinGen ClinVar Disgenet GenCC HPO
LONG QT SYNDROME 6	613693 C3150953 MESH:C566333 MONDO:0013370	KCNE2	Unknown	16754665 19862833 28794082 29672598 30847666 31737537	CTD ClinVar Disgenet GWAS catalog HPO
LONG QT SYNDROME 8	618447 MONDO:0032756	CACNA1C	Causal	—	ClinVar GenCC HPO
LONG QT SYNDROME 9	611818 C2678485 MESH:C567515 MONDO:0012736	CAV3	Causal	—	CTD ClinVar Disgenet GenCC HPO
		KCNH2	Unknown	—	Disgenet
		OXTR	Unknown	—	Disgenet
		SSUH2	Unknown	—	Disgenet
LONG QT SYNDROME TYPE 3	MESH:C537034	SCN5A	Unknown	17805561	CTD
ROMANO-WARD SYNDROME	101016 C4551647	AKAP9	Unknown	20301308 24093767	Disgenet Orphanet
		ANK2	Unknown	12571597 17242276 19862833	Disgenet Orphanet
		CACNA1C	Unknown	23677916	Disgenet Orphanet

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Long qt syndrome