Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL HEART DISEASE	C0152021 EFO_0005207 MONDO:0005453	KCNJ2	Unknown	—	Disgenet	Cholinergic synapse Oxytocin signaling pathway Renin secretion +5 more
		KCNN2	Unknown	33201861	GWAS catalog	Serotonergic synapse Insulin secretion GnRH secretion +2 more
		KDM5A	Unknown	23665959 28991257 29555671 33084842	ClinGen, Disgenet	HDMs demethylate histones
		KIF20A	Unknown	29357359	ClinGen, Disgenet, GWAS catalog	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +2 more
		KLF13	Unknown	17053787 28164238 32293321 33215447 35369534	ClinGen, Disgenet, GWAS catalog	—
		LEFTY2	Unknown	—	ClinGen, Disgenet	TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells Platelet degranulation
		LNPK	Unknown	28468790	GWAS catalog	—
		LRP1B	Unknown	28468790	GWAS catalog	—
		LRP2	Unknown	—	Disgenet	Hedgehog signaling pathway Thyroid hormone synthesis Cholesterol metabolism +4 more
		LTBP1	Unknown	—	Disgenet	TGF-beta signaling pathway Molecules associated with elastic fibres Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
		MAML2	Unknown	—	Disgenet	Notch signaling pathway Th1 and Th2 cell differentiation Human papillomavirus infection +9 more
		MAP1B	Unknown	28468790	GWAS catalog	Viral life cycle - HIV-1
		MED13L	Unknown	14638541 32368696	ClinGen, Disgenet, GWAS catalog	Thyroid hormone signaling pathway PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
		MESP1	Unknown	10393122 26694203 28677747 36413948	ClinGen, Disgenet	—
		MS4A12	Unknown	28468790	GWAS catalog	—
		MS4A13	Unknown	28468790	GWAS catalog	—
		MYBPC3	Unknown	22194935 27418595 28315668 28991257 31440271 33209723 34670123 35146008 35885957	CTD, ClinGen, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy +1 more
		MYH11	Unknown	28512736 32859249 33084842	ClinGen, Disgenet, Orphanet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		MYH7	Unknown	33309763 35491958 35993536	ClinGen, Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +6 more
		NFATC1	Unknown	—	ClinGen, Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		NFATC2	Unknown	—	ClinGen, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Efferocytosis +24 more
		NKX2-6	Unknown	15649947 24421281 32198970	ClinGen, Disgenet, GWAS catalog	—
		NRP1	Unknown	12852851 25713110	ClinGen, Disgenet, GWAS catalog	Axon guidance Human T-cell leukemia virus 1 infection Coronavirus disease - COVID-19 +5 more
		NTRK3	Unknown	—	ClinGen, Disgenet	Calcium signaling pathway Neurotrophin signaling pathway Central carbon metabolism in cancer +4 more
		OSR1	Unknown	—	ClinGen, Disgenet	—
		PCSK6	Unknown	—	Disgenet	NGF processing Formation of the cornified envelope Assembly of active LPL and LIPC lipase complexes
		PDGFRA	Unknown	20071345 33084842	ClinGen, ClinVar, Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +30 more
		POLR2B	Unknown	28468790	GWAS catalog	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		PROX1	Unknown	—	ClinGen, Disgenet	—
		PRSS12	Unknown	28468790	GWAS catalog	—
		PTCH1	Unknown	—	Disgenet	cAMP signaling pathway Hedgehog signaling pathway Axon guidance +7 more
		RAI2	Unknown	—	ClinGen, Disgenet	—
		RNF40	Unknown	28991257 31235600	ClinGen, Disgenet, GenCC	E3 ubiquitin ligases ubiquitinate target proteins
		ROCK2	Unknown	28554332 30622330 31941532	ClinGen, Disgenet, GWAS catalog	cGMP-PKG signaling pathway cAMP signaling pathway Chemokine signaling pathway +24 more
		RPRML	Unknown	38454350	GWAS catalog	—
		RXRA	Unknown	—	Disgenet	PPAR signaling pathway Efferocytosis PI3K-Akt signaling pathway +39 more
		SCHIP1	Unknown	28468790	GWAS catalog	—
		SCN5A	Unknown	—	ClinGen, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SLC44A2	Unknown	35451555	GWAS catalog	Choline metabolism in cancer Synthesis of PC Transport of bile salts and organic acids, metal ions and amine compounds +1 more
		SMAD1	Unknown	32934261 35281600	CTD, ClinGen, Disgenet	Hormone signaling TGF-beta signaling pathway Hippo signaling pathway +5 more
		SMAD2	Unknown	12432092 15528466 18952608 19064609 23665959 23899608 24064296 26821812 28991257 29786156 30157302 33801433 34328347 34666056 35894043	ClinGen, Disgenet, Orphanet	Cell cycle Endocytosis Cellular senescence +30 more
		SMAD7	Unknown	10906784 18952608 20457144 24039762	ClinGen, ClinVar, Disgenet	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more
		SNAI1	Unknown	28880281 30448225 32368696	ClinGen, Disgenet, GWAS catalog	Adherens junction Regulation of PTEN gene transcription
		SORBS2	Unknown	—	Disgenet, GenCC	—
		SOX7	Unknown	33846290 35260939 35422912 37000005 37406974	ClinGen, Disgenet, GWAS catalog	Deactivation of the beta-catenin transactivating complex
		SRF	Unknown	11514558 15169892 15569937 15591049 15929941 32380971 35885997	ClinGen, Disgenet, GWAS catalog	MAPK signaling pathway cGMP-PKG signaling pathway Human T-cell leukemia virus 1 infection +4 more
		SYNPR	Unknown	28468790	GWAS catalog	—
		TCF21	Unknown	—	Disgenet	—
		TENT5D	Unknown	35451555	GWAS catalog	—
		UGDH	Unknown	—	ClinGen, Disgenet	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Amino sugar and nucleotide sugar metabolism +5 more

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Congenital heart disease

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