Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL HEART DISEASE	EFO_0005207 C0152021 MONDO:0005453	ASGR2	Unknown	28468790	GWAS catalog	Thyroid hormone synthesis Asparagine N-linked glycosylation
		ATE1	Unknown	—	ClinGen, Disgenet	—
		BCL9	Unknown	32368696 33084842	ClinGen, Disgenet, GWAS catalog	Formation of the beta-catenin:TCF transactivating complex Deactivation of the beta-catenin transactivating complex
		BMP10	Unknown	23715323 26056270 35737725	ClinGen, Disgenet, GWAS catalog	Cytokine-cytokine receptor interaction Signaling by BMP Molecules associated with elastic fibres
		BMPR2	Unknown	12441304 19409885 23352489 27002414 27788187 28991257 33448881 35910219	ClinGen, Disgenet, GWAS catalog	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +5 more
		CAPN11	Unknown	35451555	GWAS catalog	Degradation of the extracellular matrix
		CAPN15	Unknown	—	Disgenet	Degradation of the extracellular matrix
		CARTPT	Unknown	28468790	GWAS catalog	—
		CASZ1	Unknown	25190801 27693370 28641477	ClinGen, Disgenet, GWAS catalog	—
		CDH13	Unknown	28468790	GWAS catalog	Adherens junctions interactions
		CDH2	Unknown	31585109 31650526	Disgenet, GWAS catalog	Cell adhesion molecules Arrhythmogenic right ventricular cardiomyopathy Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +3 more
		CHRD	Unknown	15254540 27058611	ClinGen, Disgenet, GWAS catalog	TGF-beta signaling pathway
		CLEC10A	Unknown	28468790	GWAS catalog	Dectin-2 family
		COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	ClinGen, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		CRELD1	Unknown	12632326 15857420 18076106 21080147 21413875 22740159 24697899 24927998 25328912 28798025 29054759 33773999 34328347 36011280	ClinGen, ClinVar, Disgenet	—
		CRIPTO	Unknown	19853938 24069547 7916676	ClinGen, Disgenet, GWAS catalog	—
		CRKL	Unknown	—	Disgenet	MAPK signaling pathway ErbB signaling pathway Rap1 signaling pathway +23 more
		CSRP1	Unknown	—	ClinGen, Disgenet	Cytoskeleton in muscle cells
		CTNNA3	Unknown	—	ClinGen, Disgenet	Hippo signaling pathway Adherens junction Leukocyte transendothelial migration +5 more
		CTSG	Unknown	28468790	GWAS catalog	Neuroactive ligand-receptor interaction Lysosome Neutrophil extracellular trap formation +12 more
		DAND5	Unknown	—	ClinGen, Disgenet	—
		DCAF4L2	Unknown	28468790	GWAS catalog	—
		DCHS1	Unknown	—	ClinGen, Disgenet	Hippo signaling pathway - multiple species
		DRD3	Unknown	28468790	GWAS catalog	Neuroactive ligand-receptor interaction Hormone signaling Dopaminergic synapse +2 more
		DTNA	Unknown	—	ClinGen, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		EFNB2	Unknown	—	ClinGen	Axon guidance EPH-Ephrin signaling EPHB-mediated forward signaling +2 more
		ETS1	Unknown	12915311 19942620 25205790 31160359 32368696 32810435	ClinGen, Disgenet, GWAS catalog	Ras signaling pathway Cellular senescence Human T-cell leukemia virus 1 infection +3 more
		FBLN2	Unknown	11507771 21743496 33084842 7851641	CTD, ClinGen, Disgenet	Cytoskeleton in muscle cells Molecules associated with elastic fibres
		FBXO33	Unknown	28468790	GWAS catalog	—
		FGF8	Unknown	10603341 12223415 19509466 32664970 7768185 9462741	ClinGen, Disgenet, GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		FMO5	Unknown	—	ClinGen, Disgenet	Taurine and hypotaurine metabolism Drug metabolism - cytochrome P450 Metabolic pathways
		FOXH1	Unknown	—	ClinGen	Signaling by NODAL Signaling by Activin
		FOXL1	Unknown	—	ClinGen, Disgenet	—
		FOXP1	Unknown	—	ClinGen, Disgenet	MicroRNAs in cancer Transcriptional regulation of pluripotent stem cells
		FOXP2	Unknown	28468790	GWAS catalog	—
		GJA1	Unknown	12064615 12881038 15978203 19615768	CTD, ClinGen, Disgenet	Gap junction Arrhythmogenic right ventricular cardiomyopathy Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane +4 more
		GJA5	Unknown	—	ClinGen, Disgenet	Gap junction assembly
		GOSR2	Unknown	38454350	GWAS catalog	SNARE interactions in vesicular transport COPII-mediated vesicle transport XBP1(S) activates chaperone genes +3 more
		HAND1	Unknown	17050624 22032825 25050861 27942761 28112363 30759401 31286141 31341279 33757801 34019794 34446706 7649392 8533092	ClinGen, Disgenet, GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		HAS2	Unknown	10930438 24558368	ClinGen, Disgenet, GWAS catalog	Hyaluronan biosynthesis and export
		HDAC1	Unknown	—	ClinGen, Disgenet	ATP-dependent chromatin remodeling Polycomb repressive complex Cell cycle +34 more
		HEY1	Unknown	—	ClinGen, Disgenet	Notch signaling pathway Human papillomavirus infection Pathways in cancer +4 more
		HEY2	Unknown	16199874 32368696 32820247	ClinGen, Disgenet, GWAS catalog	Notch signaling pathway Human papillomavirus infection Pathways in cancer +4 more
		HTR1B	Unknown	35451555	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Serotonergic synapse +3 more
		ID2	Unknown	—	ClinGen, Disgenet	TGF-beta signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells +2 more
		IQCJ	Unknown	28468790	GWAS catalog	—
		IQCJ-SCHIP1	Unknown	28468790	GWAS catalog	—
		IRX4	Unknown	21544582	CTD, ClinGen, Disgenet	—
		ISL1	Unknown	14667410 19571884 25077177 30390123 31024170 31484864 32820510 34260301	ClinGen, Disgenet, GWAS catalog	Signaling pathways regulating pluripotency of stem cells Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

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Congenital heart disease

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