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	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	—
		SCN5A	Causal	10627139 12208804 12796143 14510655 16301357 17110414 19140927 20513597	CTD, ClinVar, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		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
		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 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 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 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 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 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
		KCNQ1	Causal	—	Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		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 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 4	C1833154	ANK2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
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 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 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
		KCNH2	Unknown	—	Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		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
		CALM2	Unknown	23388215 24917665	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
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 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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