Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LONG QT SYNDROME	C0023976 MONDO:0002442 MESH:D008133PS192500	AKAP9	Causal	—	ClinGen, Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +7 more
		ANK2	Causal	—	ClinGen, Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		CACNA1C	Causal	23677916 24728418 25633834	ClinGen, Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNA1S	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CALM2	Causal	16556865 23388215 24816216 24917665 24958779 26309258 26969752 27374306 27765793 28335032 28575668 31170290	CTD, ClinGen, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
		CASQ2	Causal	—	Disgenet	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more
		CAV3	Causal	14663034 17060380 17275750 23541953 23640888 24021552 24917393 26132555	ClinGen, Disgenet, GWAS catalog	Endocytosis Focal adhesion Prion disease +8 more
		CTNNA3	Causal	—	Disgenet	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration +5 more
		DSG2	Causal	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +2 more
		DSP	Causal	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		KCNE1	Causal	14510655 18329740 9354802	CTD, ClinVar, Disgenet	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNH2	Causal	10973849 11741928 12070109 14510655 15043509 15213294 17467628 18329740 18848812 19057127 19583963 20211602 20513597 21650221 22396785 23103450 25107562 28768059 7889573 8635257 15840476 16432067 19668779 20850565 21458413 2330316	CTD, ClinGen, ClinVar, Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ5	Causal	—	ClinGen, Disgenet	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse +8 more
		KCNQ1	Causal	10220144 10868744 14510655 15028050 17467628 18329740 20513597 22910039 11216980 15498462 15950200 17655673 18464931 19841300 20421371 22739119 8528244 8872472 8900283 9108097 9312006 9323054	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		LMNA	Causal	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		MYBPC3	Causal	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH6	Causal	—	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		RNF207	Causal	—	Disgenet, GenCC	—
		RYR2	Causal	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Cardiac muscle contraction +14 more
		SCN5A	Causal	10627139 12208804 12796143 14510655 16301357 17110414 19140927 20513597	CTD, ClinVar, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
LONG QT SYNDROME 1	192500 MONDO:0008646 MONDO:0100316	KCNQ1	Causal	31983240 9020846 23392653 23591039 27041150 27868350 11226272 25187895	ClinVar, GWAS catalog, HPO	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
LONG QT SYNDROME 11	611820 C2678483 MESH:C567513 MONDO:0012738	AKAP9	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +7 more
LONG QT SYNDROME 14	616247 C4015671 MONDO:0014548 OMIM:616247	CALM1	Causal	23388215 26969752 31983240 31170290	CTD, ClinVar, Disgenet, HPO	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
LONG QT SYNDROME 15	616249 C4015695 MONDO:0014550 OMIM:616249	CALM2	Causal	23388215 26969752 31983240 31170290 27765793	CTD, ClinVar, Disgenet, HPO	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
LONG QT SYNDROME 16	618782 C5394068 MONDO:0032915	CALM3	Causal	—	ClinVar, Disgenet, GenCC, HPO	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
LONG QT SYNDROME 2	613688 C3150943 MESH:C563614 MONDO:0013367	KCNH2	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Voltage gated Potassium channels Phase 3 - rapid repolarisation
LONG QT SYNDROME 2	613688 C3150943 MESH:C563614 MONDO:0013367	KCNQ1	Causal	—	Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
LONG QT SYNDROME 3	603830 C1859062 MESH:C565840 MONDO:0011377	SCN5A	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
LONG QT SYNDROME 5	613695 C1867904 MESH:C566766 MONDO:0013372	KCNE1	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
LONG QT SYNDROME 8	618447 MONDO:0032756	CACNA1C	Causal	—	ClinVar, GenCC, HPO	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
LONG QT SYNDROME 9	611818 C2678485 MESH:C567515 MONDO:0012736	CAV3	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Endocytosis Focal adhesion Prion disease +8 more

Long qt syndrome

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