Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	617364 C4479250 MONDO:0044303 OMIM:617364	PRKD1	Causal	19303466 21441262 22968132 23401328 27479907 29396177 29920362 31042289 31848144 32817298	CTD, ClinVar, Disgenet, HPO	Rap1 signaling pathway Aldosterone synthesis and secretion Chemical carcinogenesis - reactive oxygen species +1 more
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME	617602 C4539857 MONDO:0060532	ABL1	Causal	28288113 32643838	ClinVar, Disgenet, GWAS catalog, HPO	ErbB signaling pathway Ras signaling pathway Cell cycle +17 more
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	617360 C4479246 MONDO:0044302 OMIM:617360	CDK13	Causal	27479907 29393965 29222009 29021403 28807008 31883531 35063350 35651941 36599938 37351084	CTD, ClinVar, Disgenet, GWAS catalog, HPO	TP53 Regulates Transcription of DNA Repair Genes Neutrophil degranulation
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED	C3151867	ZIC3	Causal	—	Disgenet	Signaling pathways regulating pluripotency of stem cells POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Transcriptional regulation of pluripotent stem cells
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	614980 C3554279 MONDO:0014000 OMIM:614980	TAB2	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation +33 more
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3	C3554194	CHEK2	Causal	—	Disgenet	Cell cycle p53 signaling pathway Cellular senescence +9 more
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4	C4014310 615779 MONDO:0014344 OMIM:615779	BMP7	Causal	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Axon guidance +2 more
		CRELD1	Causal	—	Disgenet	—
		NR2F2	Causal	10215630 24702954 26633542 29089047	CTD, ClinVar, Disgenet, HPO	—
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5	617912 C4693563 MONDO:0060663	GATA5	Causal	23031282 23289003 27066509 28372585	ClinVar, Disgenet, GWAS catalog, HPO	Factors involved in megakaryocyte development and platelet production
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	C3151221 613854 MONDO:0013463 OMIM:613854	CERS1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6	C3151221 613854 MONDO:0013463 OMIM:613854	GDF1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Cytokine-cytokine receptor interaction
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7	618780 C5394062 MONDO:0032913	FLT4	Causal	28991257 30232381 30582441 33142350 34905512 7724599 8245783 9794766	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +6 more
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY	619657 C5562042 MONDO:0859213	SMAD2	Causal	23665959 29967133 30157302	ClinVar, Disgenet, HPO, Orphanet	Cell cycle Endocytosis Cellular senescence +30 more
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9	620294 C5830367 MONDO:0859532	PLXND1	Causal	24254849 35396997	ClinVar, Disgenet, GWAS catalog, HPO	Other semaphorin interactions NOTCH3 Intracellular Domain Regulates Transcription
CONGENITAL HEART DISEASE	C0152021	ABL1	Causal	—	Disgenet	ErbB signaling pathway Ras signaling pathway Cell cycle +17 more
		DNAH9	Causal	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		GATA4	Causal	—	Disgenet	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		MYL2	Causal	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Apelin signaling pathway +12 more
		NKX2-5	Causal	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		RECQL4	Causal	—	Disgenet	—
		RIT1	Causal	—	Disgenet	—

Congenital heart disease

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