Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CONGENITAL HEART DEFECTS	C0018798	NIPBL	Unknown	—	Disgenet	Cell cycle Cohesin Loading onto Chromatin
		NKX2-5	Unknown	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		NONO	Unknown	—	Disgenet	—
		NOTCH1	Unknown	—	Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +20 more
		NPHP4	Unknown	—	Disgenet	Signaling by Hippo Anchoring of the basal body to the plasma membrane
		NPPB	Unknown	—	Disgenet	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +1 more
		PITX2	Unknown	—	Disgenet	TGF-beta signaling pathway TFAP2 (AP-2) family regulates transcription of other transcription factors
		POU5F1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation +1 more
		PRKD1	Unknown	—	Disgenet	Rap1 signaling pathway Aldosterone synthesis and secretion Chemical carcinogenesis - reactive oxygen species +1 more
		PUS3	Unknown	—	Disgenet	tRNA modification in the nucleus and cytosol
		RBFOX2	Unknown	—	Disgenet	FGFR2 alternative splicing
		RCAN1	Unknown	—	Disgenet	Thyroid hormone signaling pathway Oxytocin signaling pathway Kaposi sarcoma-associated herpesvirus infection
		RFC1	Unknown	—	Disgenet	DNA replication Base excision repair Nucleotide excision repair +15 more
		RNF41	Unknown	—	Disgenet	Endocytosis Downregulation of ERBB2:ERBB3 signaling Antigen processing: Ubiquitination & Proteasome degradation
		ROBO1	Unknown	—	Disgenet	Axon guidance Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO +3 more
		RYR2	Unknown	—	Disgenet	Calcium signaling pathway cAMP signaling pathway Cardiac muscle contraction +14 more
		SETD5	Unknown	—	Disgenet	—
		SLC29A3	Unknown	—	Disgenet	Alcoholism Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		SMAD6	Unknown	—	Disgenet	TGF-beta signaling pathway Signaling by BMP RUNX2 regulates bone development
		SP4	Unknown	—	Disgenet	—
		STRA6	Unknown	—	Disgenet	Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision)
		TAB2	Unknown	—	Disgenet	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation +33 more
		TAF1	Unknown	—	Disgenet	Basal transcription factors RNA Polymerase II Pre-transcription Events Regulation of TP53 Activity through Phosphorylation +4 more
		TBX1	Unknown	—	Disgenet	—
		TBX20	Unknown	—	Disgenet	—
		TBX5	Unknown	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		TGFB2	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TLL1	Unknown	—	Disgenet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +1 more
		UFD1	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Translesion Synthesis by POLH Ub-specific processing proteases
		VEGFA	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +30 more
		ZEB2	Unknown	—	Disgenet	MicroRNAs in cancer
		ZRSR2	Unknown	—	Disgenet	mRNA Splicing - Minor Pathway
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, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY	217085	WDPCP	Unknown	—	HPO	—
CONGENITAL HEART DEFECTS, MULTIPLE TYPE S	MONDO:0000119	ANKRD11	Unknown	—	GenCC	—
		ASB17	Unknown	—	GenCC	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		BMPR1A	Unknown	—	GenCC	Cytokine-cytokine receptor interaction Hormone signaling TGF-beta signaling pathway +4 more
		CITED2	Unknown	—	GenCC	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more
		DLC1	Unknown	—	GenCC	Rho GTPase cycle
		FGF10	Unknown	—	GenCC	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +29 more
		HAND2	Unknown	—	GenCC	—
		MCTP2	Unknown	—	GenCC	—
		PRKD1	Unknown	—	GenCC	Rap1 signaling pathway Aldosterone synthesis and secretion Chemical carcinogenesis - reactive oxygen species +1 more
		RBFOX2	Unknown	—	GenCC	FGFR2 alternative splicing
		SMAD6	Unknown	—	GenCC	TGF-beta signaling pathway Signaling by BMP RUNX2 regulates bone development
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	—
		XIRP2	Unknown	—	Disgenet	Cytoskeleton in muscle cells
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 DISEASE	C0152021 MONDO:0005453	ABL1	Causal	—	Disgenet	ErbB signaling pathway Ras signaling pathway Cell cycle +17 more
		NKX2-5	Causal	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		CITED2	Unknown	11044621 11694877 11823447 12149478 15475956 15750185 17133411 18440989 21224256 22504313 22761414 23082118 23899608 24456003 24848765 27818139 28436679 28687891 31378782 31515672	ClinGen, Disgenet, GWAS catalog	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more
		CRELD1	Unknown	12632326 15857420 18076106 21080147 21413875 22740159 24697899 24927998 25328912 28798025 29054759 33773999 34328347 36011280	ClinGen, ClinVar, Disgenet	—
		PRKD1	Unknown	25713110 31130284 31784580 38419169	CTD, ClinGen, Disgenet	Rap1 signaling pathway Aldosterone synthesis and secretion Chemical carcinogenesis - reactive oxygen species +1 more
		RBFOX2	Unknown	21925157 24151077 26785492 27211866 27485310 28991257 31241461 31778749 32807990 35137168 36198703	ClinGen, Disgenet, GWAS catalog	FGFR2 alternative splicing
		ROBO1	Unknown	16360689 18663139 20941780 21385766 23255421 23328398 25691540 28592524	ClinGen, Disgenet, GWAS catalog	Axon guidance Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO +3 more
		TBX20	Unknown	14550786 15843414 17668378 18834961 19494035 19762328 22328084 25183037 27510170 28553164 37481008	ClinGen, Disgenet, Orphanet	—
		TLL1	Unknown	10331975 18830233 19366374 26744331 30293987 31570783	ClinGen, Disgenet, Orphanet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +1 more
		VEGFA	Unknown	25411445 29261186 30232381 38161429	ClinGen, Disgenet, GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +30 more

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Congenital heart disease

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