Tetralogy of fallot | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
TETRALOGY OF FALLOT	C0039685 187500 3303 HP:0001636 MESH:D013771 MONDO:0008542	FLNC	Causal	—	Disgenet	Cytoskeleton in muscle cells Cell-extracellular matrix interactions
		GATA6	Causal	20581743	CTD, ClinVar, Disgenet, GenCC, HPO, Orphanet	Surfactant metabolism Factors involved in megakaryocyte development and platelet production
		JAG1	Causal	11152664 21893051	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	Endocrine resistance Notch signaling pathway Apelin signaling pathway +12 more
		KDR	Causal	34113005	CTD, Disgenet, Orphanet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +13 more
		NIPBL	Causal	—	Disgenet	Cell cycle Cohesin Loading onto Chromatin
		NKX2-5	Causal	11714651 19948535 20807224 29045289	CTD, ClinVar, Disgenet, GWAS catalog, HPO, Orphanet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		NOTCH1	Causal	—	CTD, Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +20 more
		ROBO1	Causal	—	Disgenet	Axon guidance Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO +3 more
		TBX1	Causal	20937753 25093829	CTD, ClinVar, Disgenet, HPO, Orphanet	—