Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATRIAL FIBRILLATION	C0004238 EFO_0000275 MESH:D001281 MONDO:0004981	IGF1R	Unknown	29892015 30061737 35872910 36653681 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +31 more
		IGF2BP2	Unknown	40645996	GWAS catalog	Insulin-like Growth Factor-2 mRNA Binding Proteins (IGF2BPs/IMPs/VICKZs) bind RNA
		IGFBP3	Unknown	40050429	GWAS catalog	p53 signaling pathway Cellular senescence Growth hormone synthesis, secretion and action +4 more
		IGSF11	Unknown	40050429	GWAS catalog	Cell adhesion molecules
		IKZF3	Unknown	39024449	GWAS catalog	—
		IL6R	Unknown	29892015 30061737 39537608	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor +13 more
		IMPG2	Unknown	40645996	GWAS catalog	—
		ING1	Unknown	40645996	GWAS catalog	—
		INSR	Unknown	40645996	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +26 more
		IPO8	Unknown	40645996	GWAS catalog	Nucleocytoplasmic transport Transcriptional regulation by small RNAs
		IRAK1BP1	Unknown	40645996	GWAS catalog	—
		IRF2BPL	Unknown	30061737	CTD, Disgenet	—
		ISL1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
		ITGA7	Unknown	40645996	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		ITGA9	Unknown	40050429	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +10 more
		ITPK1	Unknown	27790247	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
		ITPR2	Unknown	36653681 40050429	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +48 more
		IVD	Unknown	40645996	GWAS catalog	Valine, leucine and isoleucine degradation Metabolic pathways Branched-chain amino acid catabolism
		JAM3	Unknown	40645996	GWAS catalog	Cell adhesion molecules Tight junction Leukocyte transendothelial migration +3 more
		JMJD1C	Unknown	34594039 35872910 39024449 40645996	GWAS catalog	Transcriptional misregulation in cancer Factors involved in megakaryocyte development and platelet production
		JPH2	Unknown	40050429 40645996	GWAS catalog	—
		KCNA5	Unknown	19698954	CTD, Disgenet	Voltage gated Potassium channels
		KCNB1	Unknown	40050429 40645996	GWAS catalog	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCND3	Unknown	28416822 29892015 30061737 33990960 34594039 35872910 36653681 39024449 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	Spinocerebellar ataxia Voltage gated Potassium channels Phase 1 - inactivation of fast Na+ channels
		KCNE1	Unknown	—	Disgenet, GenCC	Adrenergic signaling in cardiomyocytes Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNE2	Unknown	15368194	CTD, Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNH2	Unknown	29892015 30061737 35872910 36653681 39024449 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	Voltage gated Potassium channels Phase 3 - rapid repolarisation
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNJ5	Unknown	28416818 29892015 30061737 34594039 35872910 36653681 39024449 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse +8 more
		KCNN2	Unknown	28416818 29892015 30061737 33990960 34594039 35872910 36653681 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	Serotonergic synapse Insulin secretion GnRH secretion +2 more
		KCNN3	Unknown	20173747 30061737 22544366 28416818 29290336 29892015 34594039 35872910 36653681 39024449 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	Insulin secretion GnRH secretion Ca2+ activated K+ channels
		KDM1B	Unknown	29892015 30061737 34594039 35872910 36653681 39024449 40050429 40645996	CTD, Disgenet, GWAS catalog	HDMs demethylate histones UCH proteinases NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
		KDM2B	Unknown	40645996	GWAS catalog	Polycomb repressive complex HDMs demethylate histones
		KDM3A	Unknown	29892015 30061737 35872910 36653681 39024449 39537608 40645996	GWAS catalog	Thermogenesis HDMs demethylate histones NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
		KDM4B	Unknown	40050429 40645996	GWAS catalog	HDMs demethylate histones Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Estrogen-dependent gene expression
		KIAA0040	Unknown	40645996	GWAS catalog	—
		KIAA1217	Unknown	40645996	GWAS catalog	—
		KIAA1755	Unknown	36653681 40050429 40645996	GWAS catalog	—
		KIF1B	Unknown	34594039	GWAS catalog	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		KIF3C	Unknown	29892015 30061737 33990960 35872910 36653681 39537608 40050429 40645996	CTD, Disgenet, GWAS catalog	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
		KIZ	Unknown	40645996	GWAS catalog	—
		KLF11	Unknown	40050429	GWAS catalog	—
		KLF12	Unknown	36653681 40050429 40645996	GWAS catalog	—
		KLHL3	Unknown	39537608	GWAS catalog	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		KLHL38	Unknown	29892015 30061737 36653681	GWAS catalog	—
		LAMC2	Unknown	40645996	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +11 more
		LAT	Unknown	40050429	GWAS catalog	Ras signaling pathway Rap1 signaling pathway NF-kappa B signaling pathway +15 more
		LDB2	Unknown	40645996	GWAS catalog	—
		LDB3	Unknown	40050429 40645996	GWAS catalog	Cytoskeleton in muscle cells
		LETMD1	Unknown	40645996	GWAS catalog	—
ATRIAL FIBRILLATION, FAMILIAL 1	C1843687	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 10	C3151464	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 11	C3279693	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 12	C3279695	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 13	C3809311	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 14	C3809312	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 15	C4014269	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 2	C1837812	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 3	C1837014	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 4	C1862394 611493 MESH:C566244 MONDO:0012677	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	CTD, ClinVar, Disgenet, HPO	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 5	C1969099	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 6	C2677294	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 7	C2677106	KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
ATRIAL FIBRILLATION, FAMILIAL, 7	C2677106	KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 8	C2751607	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
		KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
ATRIAL FIBRILLATION, FAMILIAL, 9	C3151431	KCNA5	Unknown	—	Disgenet	Voltage gated Potassium channels
ATRIAL FIBRILLATION, FAMILIAL, 9	C3151431	KCNE2	Unknown	—	Disgenet	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
FAMILIAL ATRIAL FIBRILLATION	MONDO:0018054	KCNA5	Unknown	19343045 16772329	CTD	Voltage gated Potassium channels
		KCNE2	Unknown	15368194	GWAS catalog	Gastric acid secretion Phase 3 - rapid repolarisation Phase 2 - plateau phase
		KCNJ2	Unknown	15922306	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more

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Atrial fibrillation

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