Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BRUGADA SYNDROME	MONDO:0015263 C1142166 130 MESH:D053840 MONDO_0015263	ANK2	Causal	—	ClinGen, GenCC, Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		CACNA1C	Causal	20301690	ClinGen, Disgenet, Orphanet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		SCN10A	Causal	23872634 24998131 25691538 32619740 35210625 38747976	CTD, ClinGen, GWAS catalog, GenCC, Orphanet, Disgenet	Phase 0 - rapid depolarisation
		SCN5A	Causal	10590249 10662748 12687841 15520322 16144991 16239976 16945804 17728436 17805561 18507554 18599870 19140927 19875396 20174578 20513597 23872634 30232268 10690282 10727653 12051963 14961552 20129283 20301690 27810048 35210	CTD, ClinGen, GWAS catalog, Orphanet, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		ABCC9	Unknown	24439875	ClinGen, GenCC, Orphanet, Disgenet	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		AKAP9	Unknown	25016126 27707468	Orphanet, Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +7 more
		ANKRD1	Unknown	—	Disgenet	Cytoskeleton in muscle cells PPARA activates gene expression
		CACNA2D1	Unknown	17224476 20301690 20817017	GenCC, Orphanet, Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CACNB2	Unknown	20301690	Orphanet, Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CAMK2D	Unknown	38747976	GWAS catalog	ErbB signaling pathway Calcium signaling pathway cAMP signaling pathway +44 more
		CAV3	Unknown	—	GenCC, Disgenet	Endocytosis Focal adhesion Prion disease +8 more
		COL5A1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		DEPDC5	Unknown	—	Disgenet, GenCC	mTOR signaling pathway Amino acids regulate mTORC1
		DLG1	Unknown	—	Disgenet, GenCC	Hippo signaling pathway Tight junction T cell receptor signaling pathway +8 more
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		EXOG	Unknown	32619740 38747976	GWAS catalog	—
		GATA4	Unknown	35210625 38747976	GWAS catalog	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		GPD1L	Unknown	20301690	Disgenet, Orphanet	Glycerophospholipid metabolism Synthesis of PA
		HCN4	Unknown	20301690	Disgenet, Orphanet	cAMP signaling pathway Taste transduction HCN channels
		HDDC2	Unknown	35210625	GWAS catalog	Purine metabolism Pyrimidine metabolism Metabolic pathways +1 more
		HERPUD2	Unknown	35210625 38747976	GWAS catalog	—
		HEY2	Unknown	23872634 38747976	Disgenet, CTD, GWAS catalog	Notch signaling pathway Human papillomavirus infection Pathways in cancer +4 more
		HRC	Unknown	—	Disgenet	Calcium signaling pathway Cardiac muscle contraction Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		KCND3	Unknown	20301690 21349352	Disgenet, Orphanet	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
		KCNE3	Unknown	20301690	Disgenet, ClinGen, Orphanet	Protein digestion and absorption Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNE5	Unknown	21493962	Disgenet, ClinGen, GenCC, Orphanet	Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNH2	Unknown	—	Disgenet, ClinGen, GenCC	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNJ8	Unknown	20301690 22056721	GenCC, Orphanet, Disgenet	cGMP-PKG signaling pathway ATP sensitive Potassium channels
		KCNQ1	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		LAMA4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		MAPRE2	Unknown	35210625 38747976	GWAS catalog	—
		MYBPC3	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYBPHL	Unknown	—	Disgenet	Cytoskeleton in muscle cells
		MYH7B	Unknown	38747976	GWAS catalog	Motor proteins Cytoskeleton in muscle cells
		MYO18B	Unknown	35210625 38747976	GWAS catalog	Motor proteins
		NCOA7	Unknown	23872634 32619740 35210625	GWAS catalog	Lysosome
		PKP2	Unknown	27085656	GenCC, Orphanet, Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		PRKCA	Unknown	35210625 38747976	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +87 more
		RANGRF	Unknown	24142675	ClinGen, GenCC, Orphanet, Disgenet	Phase 0 - rapid depolarisation
		RRAD	Unknown	—	GenCC, Disgenet	NGF-stimulated transcription
		RYR2	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Cardiac muscle contraction +14 more
		SCN1B	Unknown	20301690 22155597	Disgenet, CTD, Orphanet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2B	Unknown	23559163 30821013	Disgenet, GenCC, Orphanet	Phase 0 - rapid depolarisation
		SCN3B	Unknown	20301690	Disgenet, ClinGen, Orphanet	Phase 0 - rapid depolarisation
		SCNN1A	Unknown	30821013	GWAS catalog, Orphanet, Disgenet	Taste transduction Aldosterone-regulated sodium reabsorption Stimuli-sensing channels
		SEMA3A	Unknown	30821013	ClinVar, Orphanet, Disgenet	Axon guidance Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion +1 more
		SLMAP	Unknown	20301690 23064965	Disgenet, ClinGen, GenCC, Orphanet	—
		SNTA1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		SOS1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
BRUGADA SYNDROME 1	601144 C4551804 MONDO:0011001	SCN5A	Causal	11748104 17075016 17442746 20031634 20129283 20564468 25829473 25905440 29798782 29959160 30203441 32533946 32850980 32893267 33131149 33164571 39391988 9521325	ClinVar, Disgenet, GenCC, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		CACNA2D1	Unknown	30420954 19862833 16301704	ClinGen, 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
		DSP	Unknown	—	Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Apoptotic cleavage of cell adhesion proteins +3 more
		GPD1L	Unknown	—	ClinGen, Disgenet	Glycerophospholipid metabolism Synthesis of PA
		HCN4	Unknown	—	ClinGen, Disgenet	cAMP signaling pathway Taste transduction HCN channels
		KCND3	Unknown	—	ClinGen, Disgenet	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
		KCNH2	Unknown	—	Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ8	Unknown	—	ClinGen, Disgenet	cGMP-PKG signaling pathway ATP sensitive Potassium channels
		PKP2	Unknown	—	ClinGen, Disgenet	Cytoskeleton in muscle cells Arrhythmogenic right ventricular cardiomyopathy Keratinization +1 more
		SCN10A	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		SCN1B	Unknown	—	ClinGen, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2B	Unknown	—	ClinGen, Disgenet	Phase 0 - rapid depolarisation
		SCN3B	Unknown	—	ClinGen, Disgenet	Phase 0 - rapid depolarisation
		SCNN1A	Unknown	—	Disgenet	Taste transduction Aldosterone-regulated sodium reabsorption Stimuli-sensing channels
BRUGADA SYNDROME 2	611777 C2673193 MESH:C567087 MONDO:0012728	GPD1L	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Glycerophospholipid metabolism Synthesis of PA
BRUGADA SYNDROME 3	611875 C2678478 MESH:C567509 MONDO:0012742	CACNA1C	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
BRUGADA SYNDROME 4	611876 C2678477 MESH:C567508 MONDO:0012743	CACNB2	Causal	30420954 19862833 16301704	CTD, ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
BRUGADA SYNDROME 5	612838 C2748541 MESH:C567556 MONDO:0013015	SCN1B	Causal	9697698 18464934 12011299 17020904 14504340 19522081 21040232 27277800 29992740 30660056 36291443	CTD, ClinVar, Disgenet, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
BRUGADA SYNDROME 6	613119 C2751089 MESH:C567735 MONDO:0013145	KCNE3	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Protein digestion and absorption Phase 3 - rapid repolarisation Phase 2 - plateau phase
BRUGADA SYNDROME 7	613120 C2751088 MESH:C567734 MONDO:0013146	SCN3B	Unknown	—	CTD, ClinVar, Disgenet, GenCC, HPO	Phase 0 - rapid depolarisation
BRUGADA SYNDROME 8	613123 C2751083 MESH:C567732 MONDO:0013148	HCN4	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	cAMP signaling pathway Taste transduction HCN channels
BRUGADA SYNDROME 9	616399 C4225340 MONDO:0014621 OMIM:616399	KCND3	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
BRUGADA SYNDROME 9	616399 C4225340 MONDO:0014621 OMIM:616399	LAMA4	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more

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Brugada syndrome

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