Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
LOEYS-DIETZ SYNDROME	C2697932 60030 MESH:D055947 MONDO:0018954	ABCA3	Causal	—	Disgenet
		FBN1	Causal	—	Disgenet
		SMAD3	Causal	22772368 29392890 31000321 32935439	CTD Disgenet Orphanet
		TGFB2	Causal	22772368 24440784 25163805 28544325	CTD Disgenet Orphanet
		TGFB3	Causal	26184463 29392890	CTD Disgenet GenCC Orphanet
		TGFBR1	Causal	15731757 16928994 19542084 19883511 20358619 22772368 24355923 8242743	CTD ClinGen Disgenet Orphanet
		TGFBR2	Causal	15235604 18084123 19006214 20358619 22772368 15731757 16928994	CTD Disgenet Orphanet
		COL3A1	Unknown	—	Disgenet
		COL5A1	Unknown	—	Disgenet
		COL5A2	Unknown	—	Disgenet
		FBN2	Unknown	—	Disgenet
		IPO8	Unknown	34010605	Disgenet Orphanet
		MYH11	Unknown	—	Disgenet
		MYLK	Unknown	—	Disgenet
		SMAD2	Unknown	29392890 31000321	Disgenet GenCC Orphanet
LOEYS-DIETZ SYNDROME 1	609192 MONDO:0012212	TGFBR1	Causal	15731757 16596670 18070134 16791849 16928994	CTD ClinVar HPO
LOEYS-DIETZ SYNDROME 2	610168 MONDO:0012427 OMIM:610168	TGFBR2	Causal	—	CTD ClinGen ClinVar GenCC HPO
LOEYS-DIETZ SYNDROME 3	613795 C3151087	SMAD3	Unknown	—	Disgenet HPO
LOEYS-DIETZ SYNDROME 3	613795 C3151087	SMAD6	Unknown	—	Disgenet
LOEYS-DIETZ SYNDROME 4	614816 C3553762 MONDO:0013897	TGFB2	Causal	—	ClinVar Disgenet GenCC HPO
LOEYS-DIETZ SYNDROME 4	614816 C3553762 MONDO:0013897	TGFB3	Unknown	—	Disgenet
LOEYS-DIETZ SYNDROME 5	615582	TGFB3	Unknown	—	HPO
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
LOEYS-DIETZ SYNDROME, TYPE 1A	C4551955	SMAD2	Unknown	—	Disgenet
		TGFBR1	Unknown	—	Disgenet
		TGFBR2	Unknown	—	Disgenet

Loeys-dietz syndrome