Loeys-dietz syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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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
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 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 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