Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SHORT QT SYNDROME	C2348199 MONDO:0000453	KCNH2	Causal	14676148 15828882 18692916 19340359 21130771 25335996 25974115 28491588 29016797 29574456 29759541 30496390 30571592 30582453 7736582 7889573	ClinGen, Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Causal	11410627 15761194 19285083 22155372 23375927 23440193	ClinGen, Disgenet, Orphanet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		CACNA1C	Unknown	—	ClinGen, Disgenet, GenCC	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		CACNA2D1	Unknown	21383000	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
		KCNQ1	Unknown	15159330 16109388 24380499 24818999 25974115 26168993 26279191 26346102 28491547 28491751 29213224 8528244 8900283	ClinGen, Disgenet, GWAS catalog	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
		SCN5A	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SLC22A5	Unknown	—	ClinGen, Disgenet	Choline metabolism in cancer Carnitine metabolism Organic cation transport +1 more
		SLC4A3	Unknown	29167417	ClinGen, ClinVar, Disgenet	Bicarbonate transporters
		TRPM4	Unknown	—	Disgenet	Insulin secretion TRP channels
		VCL	Unknown	—	Disgenet	Focal adhesion Adherens junction Leukocyte transendothelial migration +14 more
SHORT QT SYNDROME 1	609620 C1865020 MESH:C566506	KCNH2	Unknown	18724381 29574456	CTD, Disgenet, HPO	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNQ1	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
SHORT QT SYNDROME 2	C1865019 609621 MESH:C566505	KCNH2	Unknown	—	Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNQ1	Unknown	—	CTD, Disgenet, HPO	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
SHORT QT SYNDROME 3	C1865018 609622 MESH:C566504	KCNH2	Unknown	—	Disgenet	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Unknown	—	CTD, Disgenet, HPO	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNQ1	Unknown	—	Disgenet	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
SHORT QT SYNDROME 7	620231 C5774304 MONDO:0859368	SLC4A3	Causal	29167417	ClinVar, Disgenet, GWAS catalog, HPO, ClinGen	Bicarbonate transporters
SHORT QT SYNDROME TYPE 1	MONDO:0012312	KCNH2	Causal	14676148 19340359 25335996 21130771 29876509 29016797 28491588 30571592 15828882 18692916 25974115 21310316 31072576 7736582 7889573 29574456 30582453 9547387 15673388 29759541 31049424 30175559 19088443 30496390 30947366	CTD, ClinVar, ClinGen	Voltage gated Potassium channels Phase 3 - rapid repolarisation
SHORT QT SYNDROME TYPE 2	MONDO:0012313	KCNQ1	Causal	16109388 28491547 15159330 24380499 25974115 26168993 26346102 26279191 28491751 8900283 8528244 29213224	ClinVar, GWAS catalog, ClinGen	Adrenergic signaling in cardiomyocytes Cholinergic synapse Gastric acid secretion +6 more
SHORT QT SYNDROME TYPE 3	MONDO:0012314	KCNJ2	Causal	15761194 17640933 22155372 22371365 8078584	ClinVar, Disgenet, ClinGen	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more

Short qt syndrome

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