Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL LONG QT SYNDROME	C1141890 MONDO:0019171 MONDO_0019171	AKAP9	Unknown	—	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	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		BCL9	Unknown	—	Disgenet	Formation of the beta-catenin:TCF transactivating complex Deactivation of the beta-catenin transactivating complex
		BRAF	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +52 more
		CACNA1C	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNA1D	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CACNA1I	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +4 more
		CALM3	Unknown	23388215 26969752 31983240 31170290	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
		CAV3	Unknown	—	Disgenet	Endocytosis Focal adhesion Prion disease +8 more
		CCND1	Unknown	—	Disgenet	Endocrine resistance FoxO signaling pathway Cell cycle +58 more
		ITPR3	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +52 more
		KCNA10	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE1	Unknown	32429735	GWAS catalog, Disgenet	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNH2	Unknown	—	Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNJ5	Unknown	—	Disgenet	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse +8 more
		KCNQ1	Unknown	32429735	GWAS catalog, Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		KLF12	Unknown	32429735	GWAS catalog	—
		MBLAC1	Unknown	—	Disgenet	—
		MIDN	Unknown	—	Disgenet	—
		MUC16	Unknown	—	Disgenet	Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) Defective GALNT12 causes colorectal cancer 1 (CRCS1) +3 more
		NOS1AP	Unknown	32429735	GWAS catalog	Circadian entrainment
		OLFML2B	Unknown	32429735	GWAS catalog	—
		OXTR	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +4 more
		PFKFB1	Unknown	—	Disgenet	Fructose and mannose metabolism Metabolic pathways AMPK signaling pathway +2 more
		PTPN11	Unknown	—	Disgenet	Ras signaling pathway Phospholipase D signaling pathway Efferocytosis +56 more
		PTPN13	Unknown	—	Disgenet	Apoptosis Synthesis of PIPs at the plasma membrane Interleukin-37 signaling
		SCN10A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		SCN4B	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN5A	Unknown	10377081 10627139 11533705 11535573 12123767 1309946 14736542 15485686 17698727 19841300 21799153 24871449 27566755 28782696 7651517 7889574	Disgenet, ClinGen, GWAS catalog	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SLC2A2	Unknown	—	Disgenet	Insulin secretion Prolactin signaling pathway Glucagon signaling pathway +9 more
		SNTA1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TRDN	Unknown	31983240 25922419 26768964 22422768 26200674 30479949 30649896 31437535 32402482	ClinGen, Disgenet	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more
		TTN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		UFM1	Unknown	—	Disgenet	—
		VEPH1	Unknown	—	Disgenet	—
		VPS13B	Unknown	—	Disgenet	—
		VSX1	Unknown	—	Disgenet	—
LONG QT SYNDROME	C0023976 MONDO:0002442 MESH:D008133PS192500	BAG3	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		CACNA2D1	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CACNB2	Unknown	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CALM1	Unknown	16556865 23388215 24076290 24816216 24958779 26969752 27374306 28158429 31170290	CTD, ClinGen, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
		CALM3	Unknown	16556865 23388215 25460178 26969752 28491681 31170290	CTD, ClinGen, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
		CIT	Unknown	—	Disgenet	RHO GTPases activate CIT
		CYP1A1	Unknown	26988683	CTD, Disgenet	Steroid hormone biosynthesis Tryptophan metabolism Retinol metabolism +12 more
		DIP2A	Unknown	—	Disgenet	—
		DPP6	Unknown	—	Disgenet	—
		DSC2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		GNAI2	Unknown	—	Disgenet	Rap1 signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +47 more
		GPD1L	Unknown	—	Disgenet	Glycerophospholipid metabolism Synthesis of PA
		KCNE2	Unknown	10219239 10984545 14510655	CTD, ClinGen, ClinVar, Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	11371347 12148092 15276028 15831539 16541386 16571646 17582433 20111058 21148745 21493816 22589293 23644778 24395924 28003625 29017447	ClinGen, Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		NOS1AP	Unknown	—	Disgenet	Circadian entrainment
		OXTR	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +4 more
		SCN4B	Unknown	—	ClinGen, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SNTA1	Unknown	—	ClinGen, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TRDN	Unknown	25922419 26768964	CTD, ClinGen, ClinVar, Disgenet	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more
		TTN	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
LONG QT SYNDROME 10	611819 C2678484 MESH:C567514 MONDO:0012737	SCN4B	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
LONG QT SYNDROME 12	612955 C2751830 MESH:C567842 MONDO:0013062	SNTA1	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
LONG QT SYNDROME 13	613485 C3150733 MONDO:0013279 OMIM:613485	KCNJ5	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse +8 more
LONG QT SYNDROME 2	C3150943	AKAP9	Unknown	—	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	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		SCN5A	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
LONG QT SYNDROME 4	C1833154	ANK2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
LONG QT SYNDROME 6	613693 C3150953 MESH:C566333 MONDO:0013370	KCNE2	Unknown	16754665 19862833 28794082 29672598 30847666 31737537	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
LONG QT SYNDROME 9	C2678485	KCNH2	Unknown	—	Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
LONG QT SYNDROME 9	C2678485	OXTR	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +4 more
LONG QT SYNDROME TYPE 3	MESH:C537034	SCN5A	Unknown	17805561	CTD	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
ROMANO-WARD SYNDROME	101016 C4551647 MESH:D029597	AKAP9	Unknown	20301308 24093767	Disgenet, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +7 more
		ANK2	Unknown	12571597 17242276 19862833	Disgenet, Orphanet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		CACNA1C	Unknown	23677916	Disgenet, Orphanet, ClinGen	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CALM1	Unknown	23388215 24076290	Disgenet, Orphanet, ClinGen	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
		CALM3	Unknown	31170290	Disgenet, Orphanet, ClinGen	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +79 more
		CAV3	Unknown	20301308 24093767	Disgenet, Orphanet, ClinGen	Endocytosis Focal adhesion Prion disease +8 more
		KCNE1	Unknown	20301308 24093767	Disgenet, Orphanet	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNE2	Unknown	20301308 24093767	Disgenet, Orphanet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNH2	Unknown	20301308 24093767	Disgenet, Orphanet, ClinGen	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ5	Unknown	20301308 24093767	Disgenet, Orphanet	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse +8 more
		KCNQ1	Unknown	15004216 20301308 24093767	CTD, Disgenet, Orphanet, ClinGen	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		NOS1AP	Unknown	19822806 20538168	Disgenet, Orphanet	Circadian entrainment
		OXTR	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +4 more
		SCN10A	Unknown	28407228	Disgenet, Orphanet	Phase 0 - rapid depolarisation
		SCN4B	Unknown	20301308 24093767	Disgenet, Orphanet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN5A	Unknown	20301308 24093767	Disgenet, Orphanet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SNTA1	Unknown	20301308 24093767	Disgenet, Orphanet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TRDN	Unknown	25922419 27041150 27807201	Disgenet, Orphanet, ClinGen	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more

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Long qt syndrome

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