Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL SICK SINUS SYNDROME	C0340491 MONDO:0012061 MONDO_0012061	SCN5A	Causal	—	Disgenet, GenCC	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		CCDC141	Unknown	33580673 36282123	GWAS catalog	—
		GNB2	Unknown	—	Disgenet	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more
		HCN4	Unknown	—	Disgenet, GenCC	cAMP signaling pathway Taste transduction HCN channels
		KRT8	Unknown	33580673 36282123	GWAS catalog	Keratinization Formation of the cornified envelope
		MYH6	Unknown	—	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		PITX2	Unknown	33580673 36282123	GWAS catalog	TGF-beta signaling pathway TFAP2 (AP-2) family regulates transcription of other transcription factors
		SCN10A	Unknown	33580673 36282123	GWAS catalog	Phase 0 - rapid depolarisation
		TTN	Unknown	33580673 36282123	GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		ZFHX3	Unknown	33580673 36282123	GWAS catalog	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription
SICK SINUS SYNDROME	C0037052 MESH:D012804 MONDO_0001823	LMNA	Causal	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Hypertrophic cardiomyopathy +8 more
		SCN5A	Causal	—	Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		AGT	Unknown	—	Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		ANK2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Proteoglycans in cancer Interaction between L1 and Ankyrins +1 more
		CACNA1D	Unknown	26831068	CTD, Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +35 more
		CCDC141	Unknown	33580673 36282123	GWAS catalog	—
		HCN4	Unknown	—	Disgenet	cAMP signaling pathway Taste transduction HCN channels
		KCNJ5	Unknown	26831068	CTD, Disgenet	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse +8 more
		KRT8	Unknown	33580673 36282123	GWAS catalog	Keratinization Formation of the cornified envelope
		MECP2	Unknown	—	Disgenet	Transcriptional Regulation by MECP2 Loss of MECP2 binding ability to 5hmC-DNA Loss of MECP2 binding ability to 5mC-DNA +2 more
		MYH6	Unknown	21378987	CTD, Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		PITX2	Unknown	33580673 36282123	GWAS catalog	TGF-beta signaling pathway TFAP2 (AP-2) family regulates transcription of other transcription factors
		POMC	Unknown	19039989	CTD, Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		SCN10A	Unknown	33580673 36282123	GWAS catalog	Phase 0 - rapid depolarisation
		SNTA1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		TTN	Unknown	33580673 36282123	GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +2 more
		ZFHX3	Unknown	33580673 36282123	GWAS catalog	Signaling pathways regulating pluripotency of stem cells RUNX3 regulates CDKN1A transcription
SICK SINUS SYNDROME 1	608567 MONDO:0024562	SCN5A	Causal	10690282 11807557 16505387 17442746 20564468 20950709 23104914 29951135 3285098 32850980 35052356	ClinVar, GWAS catalog, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	C1837845 MESH:C563907	SCN5A	Unknown	—	CTD, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
SICK SINUS SYNDROME 2	163800	HCN4	Unknown	—	HPO	cAMP signaling pathway Taste transduction HCN channels
SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT	C1834144 MESH:C563513 MONDO:0008102	HCN4	Causal	12750403 15123648 16407510 21220308 23178648 23715323 23861362 25145517 25145518 26206080 26688388 27173043 28104484 28803248 29349559 30471092 31731876 32577394 33008772 33082984 35257104 35328031	CTD, ClinGen, ClinVar, Disgenet, HPO	cAMP signaling pathway Taste transduction HCN channels
SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO	MONDO:0013568	MYH6	Unknown	—	ClinVar	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
SICK SINUS SYNDROME 4	619464 C5561949 MONDO:0859173	GNB2	Causal	28219978	ClinVar, Disgenet, HPO	Ras signaling pathway Chemokine signaling pathway Hormone signaling +43 more

Sick sinus syndrome

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