Brugada syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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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
BRUGADA SYNDROME 1	C4551804 601144 MONDO:0011001	FBN1	Causal	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
BRUGADA SYNDROME 1	C4551804 601144 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
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 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