Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
LOEYS-DIETZ SYNDROME	C2697932 60030 MESH:D055947 MONDO:0018954	ABCA3	Causal	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more
		FBN1	Causal	—	Disgenet	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		SMAD3	Causal	22772368 29392890 31000321 32935439	CTD, Disgenet, Orphanet	FoxO signaling pathway Cell cycle Endocytosis +34 more
		TGFB2	Causal	22772368 24440784 25163805 28544325	CTD, Disgenet, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFB3	Causal	26184463 29392890	CTD, Disgenet, GenCC, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
		TGFBR1	Causal	15731757 16928994 19542084 19883511 20358619 22772368 24355923 8242743	CTD, ClinGen, Disgenet, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Causal	15235604 18084123 19006214 20358619 22772368 15731757 16928994	CTD, Disgenet, Orphanet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		COL3A1	Unknown	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		COL5A1	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		COL5A2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		FBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
		IPO8	Unknown	34010605	Disgenet, Orphanet	Nucleocytoplasmic transport Transcriptional regulation by small RNAs
		MYH11	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		MYLK	Unknown	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Vascular smooth muscle contraction +8 more
		SMAD2	Unknown	29392890 31000321	Disgenet, GenCC, Orphanet	Cell cycle Endocytosis Cellular senescence +30 more
LOEYS-DIETZ SYNDROME 1	609192 MONDO:0012212	TGFBR1	Causal	15731757 16596670 18070134 16791849 16928994	CTD, ClinVar, HPO	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
LOEYS-DIETZ SYNDROME 2	610168 MONDO:0012427 OMIM:610168	TGFBR2	Causal	—	CTD, ClinGen, ClinVar, GenCC, HPO	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
LOEYS-DIETZ SYNDROME 3	613795 C3151087	SMAD3	Unknown	21217753 29392890	Disgenet, HPO	FoxO signaling pathway Cell cycle Endocytosis +34 more
LOEYS-DIETZ SYNDROME 3	613795 C3151087	SMAD6	Unknown	—	Disgenet	TGF-beta signaling pathway Signaling by BMP RUNX2 regulates bone development
LOEYS-DIETZ SYNDROME 4	614816 C3553762 MONDO:0013897	TGFB2	Causal	22772368 22772371 25046559 25163805 31569402	ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
LOEYS-DIETZ SYNDROME 4	614816 C3553762 MONDO:0013897	TGFB3	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
LOEYS-DIETZ SYNDROME 5	615582	TGFB3	Unknown	24798638	HPO	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +27 more
LOEYS-DIETZ SYNDROME 6	619656 C5562041 MONDO:0030500	SMAD2	Causal	23715323 23817199 26247899 28283438 29907982 29967133 30157302 31915033 34570182 8980228 9311995	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cell cycle Endocytosis Cellular senescence +30 more
LOEYS-DIETZ SYNDROME, TYPE 1A	C4551955	SMAD2	Unknown	29392890 29707331 26247899	Disgenet	Cell cycle Endocytosis Cellular senescence +30 more
		TGFBR1	Unknown	15731757 16596670 16791849 16928994 18070134	Disgenet, ClinGen	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Unknown	15235604 15731757 16027248 16928994 32528524 33235621	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more

Loeys-dietz syndrome

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