familial thoracic aortic aneurysm and aortic dissection | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
familial thoracic aortic aneurysm and aortic dissection		BGN	Causal	—	ClinGen	Cytoskeleton in muscle cells A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis +9 more
		FBN1	Causal	—	ClinGen	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FLNA	Causal	—	ClinGen	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		LOX	Causal	—	ClinGen	Elastic fibre formation Crosslinking of collagen fibrils
		MAT2A	Causal	—	ClinGen	Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways +3 more
		MFAP5	Causal	—	ClinGen	Elastic fibre formation Molecules associated with elastic fibres
		MYH11	Causal	—	ClinGen	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		MYLK	Causal	—	ClinGen	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +8 more
		PRKG1	Causal	—	ClinGen	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +10 more
		TGFB2	Causal	—	ClinGen	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFB3	Causal	—	ClinGen	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
		FOXE3	Unknown	—	ClinGen	—