Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ATRIAL HEART SEPTAL DEFECT	EFO_1000825	HSPBAP1	Unknown	39024449	GWAS catalog	—
		PARP14	Unknown	39024449	GWAS catalog	Nicotinamide salvaging
		ROBO1	Unknown	39024449	GWAS catalog	Axon guidance Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO +3 more
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
		FOXP1	Unknown	—	Disgenet	MicroRNAs in cancer Transcriptional regulation of pluripotent stem cells
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 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS	108900 C3276096 OMIM:108900	NKX2-5	Unknown	—	CTD, Disgenet, HPO	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
ATRIAL SEPTAL DEFECT 9	614475 C3280943 MONDO:0013770 OMIM:614475	GATA6	Unknown	20631719	CTD, ClinVar, Disgenet, GenCC, HPO	Surfactant metabolism Factors involved in megakaryocyte development and platelet production
ATRIAL SEPTAL DEFECT SINUS VENOSUS	C0344730	CITED2	Unknown	—	Disgenet	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more
ATRIAL SEPTAL DEFECT, ATRIOVENTRICULAR CONDUCTION DEFECT SYNDROME	C4510872	NKX2-5	Unknown	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
ATRIAL SEPTAL DEFECT, OSTIUM PRIMUM TYPE	99106	TLL1	Unknown	18830233	Orphanet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +1 more
ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE	99103	ACTC1	Unknown	17947298	Orphanet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		CITED2	Unknown	16287139	Orphanet	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more
		GATA4	Unknown	12845333 15810002 20347099	Orphanet	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		GATA6	Unknown	20631719	Orphanet	Surfactant metabolism Factors involved in megakaryocyte development and platelet production
		MYH6	Unknown	15735645	Orphanet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		NKX2-5	Unknown	15810002 21285290	Orphanet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		TBX20	Unknown	19762328	Orphanet	—
		TLL1	Unknown	18830233	Orphanet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +1 more
ATRIAL SEPTAL DEFECT, SINUS VENOSUS TYPE	99105	CITED2	Unknown	16287139	Orphanet	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more
ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME	1479	NKX2-5	Unknown	18375255 19049681	Orphanet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
ATRIAL SEPTAL DEFECTS	C0018817	ABCC8	Unknown	—	Disgenet	ABC transporters Insulin secretion Type II diabetes mellitus +3 more
		ACTC1	Unknown	—	Disgenet	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins +4 more
		ACTL6A	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +4 more
		BMP4	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +8 more
		CHD7	Unknown	—	Disgenet	—
		CITED2	Unknown	—	Disgenet	Mitophagy - animal Regulation of gene expression by Hypoxia-inducible Factor TFAP2 (AP-2) family regulates transcription of other transcription factors +2 more
		CUL9	Unknown	—	Disgenet	Neddylation
		CYFIP1	Unknown	—	Disgenet	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +5 more
		DIPK1A	Unknown	—	Disgenet	—
		DMD	Unknown	—	Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		GATA4	Unknown	12845333 15810002 17643447 18055909 20347099 20659440	Disgenet	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		GATA6	Unknown	20631719	Disgenet	Surfactant metabolism Factors involved in megakaryocyte development and platelet production
		HDAC8	Unknown	—	Disgenet	Cell cycle Neutrophil extracellular trap formation Alcoholism +7 more
		HUWE1	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Mitophagy - animal Neutrophil degranulation +1 more
		ISL1	Unknown	—	Disgenet	Signaling pathways regulating pluripotency of stem cells Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
		MN1	Unknown	—	Disgenet	—
		MYH6	Unknown	15735645 20656787 29505555 29536580 29969989 31638415 34481090	Disgenet	cGMP-PKG signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		MYLK	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +8 more
		NKX2-5	Unknown	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		PQBP1	Unknown	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway
		RPL5	Unknown	—	Disgenet	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SETBP1	Unknown	—	Disgenet	—
		SMARCA4	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +6 more
		SOS1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +97 more
		TBX2	Unknown	—	Disgenet	—
		TBX20	Unknown	17668378 19762328	Disgenet	—
		TBX5	Unknown	—	Disgenet	YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors
		TLL1	Unknown	18830233	Disgenet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +1 more

Atrial septal defect

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