Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION	91387 C4707243 MONDO:0019625ORPHA91387	ACTA2	Causal	20301299	ClinVar, Disgenet, GWAS catalog, Orphanet	Vascular smooth muscle contraction Apelin signaling pathway Motor proteins +3 more
		BGN	Causal	—	ClinGen, ClinVar, Disgenet, GenCC	Cytoskeleton in muscle cells A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis +9 more
		CBS	Causal	—	Disgenet	Glycine, serine and threonine metabolism Cysteine and methionine metabolism One carbon pool by folate +3 more
		COL3A1	Causal	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		COL5A1	Causal	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		FBN1	Causal	20301299	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FBN2	Causal	—	ClinGen, Disgenet, GenCC	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
		FLNA	Causal	—	ClinGen, Disgenet, GenCC	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		JAG1	Causal	—	Disgenet	Endocrine resistance Notch signaling pathway Apelin signaling pathway +12 more
		LOX	Causal	26838787 27432961	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	Elastic fibre formation Crosslinking of collagen fibrils
		MAT2A	Causal	25557781	ClinGen, Disgenet, GenCC, Orphanet	Cysteine and methionine metabolism One carbon pool by folate Metabolic pathways +3 more
		MED12	Causal	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
		MFAP5	Causal	25434006	ClinGen, Disgenet, GenCC, Orphanet	Elastic fibre formation Molecules associated with elastic fibres
		MYH11	Causal	20301299	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		MYLK	Causal	20301299	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +8 more
		NOTCH1	Causal	—	Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +20 more
		PLOD1	Causal	—	Disgenet	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
		PRKG1	Causal	23910461	ClinGen, Disgenet, GenCC, Orphanet	cGMP-PKG signaling pathway Hormone signaling Vascular smooth muscle contraction +10 more
		SKI	Causal	—	Disgenet	TGF-beta signaling pathway Signaling by BMP Downregulation of SMAD2/3:SMAD4 transcriptional activity
		SLC2A10	Causal	—	Disgenet	Cellular hexose transport Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
		SMAD3	Causal	20301299	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	FoxO signaling pathway Cell cycle Endocytosis +34 more
		SMAD4	Causal	30809044	Disgenet, GWAS catalog, Orphanet	FoxO signaling pathway Hormone signaling Cell cycle +30 more
		TGFB2	Causal	22772371	ClinGen, Disgenet, GenCC, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFB3	Causal	23824657 25835445	ClinGen, Disgenet, GenCC, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
		TGFBR1	Causal	20301299	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Causal	20301299	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		THSD4	Causal	32855533	CTD, Disgenet, Orphanet	TGF-beta signaling pathway Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL5A2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		EFEMP2	Unknown	22440127	Disgenet, Orphanet	Molecules associated with elastic fibres
		ELN	Unknown	24932728	Disgenet, GenCC, Orphanet	Cytoskeleton in muscle cells Protein digestion and absorption Degradation of the extracellular matrix +2 more
		FAS	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
		FOXE3	Unknown	26854927	ClinGen, ClinVar, Disgenet, GenCC, Orphanet	—
		GATA5	Unknown	—	Disgenet	Factors involved in megakaryocyte development and platelet production
		HCN4	Unknown	—	Disgenet	cAMP signaling pathway Taste transduction HCN channels
		HEY2	Unknown	32820247	Disgenet, GWAS catalog, Orphanet	Notch signaling pathway Human papillomavirus infection Pathways in cancer +4 more
		NDE1	Unknown	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +10 more
		ROBO4	Unknown	—	Disgenet	—
		SMAD2	Unknown	29967133	Disgenet, GWAS catalog, Orphanet	Cell cycle Endocytosis Cellular senescence +30 more
		SRFBP1	Unknown	—	Disgenet	—
		TGFBR3	Unknown	—	Disgenet	—

Thoracic aortic aneurysm and aortic dissection

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