Atrial septal defect | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATRIAL SEPTAL DEFECT 1	C1862389	BMP2	Causal	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +5 more
		TBX5	Causal	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		TGFB2	Causal	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TPM1	Causal	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +6 more
ATRIAL SEPTAL DEFECT 2	607941 C1842778 MESH:C538263 MONDO:0011938	GATA4	Causal	18055909 17643447 20347099 12845333 20659440 15810002	CTD, ClinVar, Disgenet, GWAS catalog, HPO	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
ATRIAL SEPTAL DEFECT 3	614089 C3279790 MESH:C563540 MONDO:0013567	MYH6	Causal	29505555 31638415 29536580 29969989 15735645 20656787 34481090	CTD, ClinVar, Disgenet, GWAS catalog, HPO	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
ATRIAL SEPTAL DEFECT 4	611363 C1969657 MESH:C566963 MONDO:0012654	TBX20	Causal	19762328 17668378	CTD, ClinVar, Disgenet, GenCC, HPO	—
ATRIAL SEPTAL DEFECT 5	612794 C2748552 MESH:C567561 MONDO:0013011	ACTC1	Causal	17947298 24461919 27139165	CTD, ClinVar, Disgenet, HPO	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
ATRIAL SEPTAL DEFECT 6	613087 C2751315 MESH:C567764 MONDO:0013123	TLL1	Causal	18830233 27418595 30538173 31570783	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +1 more
ATRIAL SEPTAL DEFECT 7	MONDO:0007173	NKX2-5	Causal	—	ClinVar, GenCC	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
ATRIAL SEPTAL DEFECT 8	614433 C3280790 MONDO:0013750 OMIM:614433	CITED2	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more