Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, VASCULAR TYPE	MONDO:0007524	COL3A1	Unknown	—	GenCC
CLASSICAL EHLERS-DANLOS SYNDROME	287	COL1A1	Unknown	10739762	Orphanet
		COL5A1	Unknown	15580559 22696272	Orphanet
		COL5A2	Unknown	15580559 22696272	Orphanet
CLASSICAL-LIKE EHLERS-DANLOS SYNDROME TYPE 1	230839	TNXB	Unknown	11642233	Orphanet
CLASSICAL-LIKE EHLERS-DANLOS SYNDROME TYPE 2	536532 C4693870	AEBP1	Unknown	30759870	Disgenet Orphanet
COL1A1-RELATED EHLERS-DANLOS SYNDROME	MONDO:0100599	COL1A1	Unknown	15728585 16407265 18409203 19233756 19669491 24443344 28206959 3082886 32091183 34265140 6519194	ClinGen GWAS catalog
COL1A2-RELATED EHLERS-DANLOS SYNDROME	MONDO:0100606	COL1A2	Unknown	10982177 1556139 1577745 1712342 23692737 24440294 2454224 32091183 9295084	ClinGen GWAS catalog
EHLERS-DANLOS AND OSTEOGENESIS IMPERFECTA SYNDROME	C4518787	COL1A1	Unknown	—	Disgenet
EHLERS-DANLOS AND OSTEOGENESIS IMPERFECTA SYNDROME	C4518787	COL1A2	Unknown	—	Disgenet
EHLERS-DANLOS SYNDROME	C0013720 MESH:D004535 MONDO:0020066	C1R	Causal	—	CTD Disgenet
		COL1A1	Causal	10739762	CTD Disgenet GWAS catalog
		COL1A2	Causal	—	CTD Disgenet
		COL3A1	Causal	—	CTD Disgenet
		COL5A1	Causal	8923000 10739762 15580559 22696272	CTD Disgenet GWAS catalog
		COL5A2	Causal	15580559 22696272	CTD Disgenet GWAS catalog
		FBN2	Causal	—	Disgenet
		PLOD1	Causal	—	CTD Disgenet
		PRDM5	Causal	—	CTD Disgenet
		SMAD3	Causal	—	Disgenet
		TGFB2	Causal	—	Disgenet
		TGFBR1	Causal	—	Disgenet
		TGFBR2	Causal	—	Disgenet
		THBS2	Causal	—	CTD Disgenet
		TNXB	Causal	11642233 12865992	CTD Disgenet GWAS catalog
		ZNF469	Causal	—	CTD Disgenet
		ADAMTS2	Unknown	—	CTD Disgenet
		ADAMTSL2	Unknown	—	Disgenet GenCC
		AEBP1	Unknown	—	CTD
		ATP6V0D2	Unknown	—	Disgenet GenCC
		ATP7A	Unknown	—	Disgenet
		B3GALT6	Unknown	—	CTD
		B4GALT7	Unknown	—	CTD Disgenet
		C1S	Unknown	—	CTD
		CHST14	Unknown	—	CTD Disgenet
		COL12A1	Unknown	—	CTD
		CYP21A2	Unknown	—	Disgenet
		DSE	Unknown	—	CTD Disgenet
		FBN1	Unknown	—	CTD
		FKBP14	Unknown	—	CTD Disgenet
		FLNA	Unknown	—	CTD Disgenet
		LOX	Unknown	—	Disgenet
		MAP3K7	Unknown	—	CTD
		SLC39A13	Unknown	18985159	CTD Disgenet
		TAB2	Unknown	—	CTD
EHLERS-DANLOS SYNDROME 6B	C0268344	PRDM5	Unknown	—	Disgenet
EHLERS-DANLOS SYNDROME 6B	C0268344	ZNF469	Unknown	—	Disgenet
EHLERS-DANLOS SYNDROME CARDIAC VALVULAR TYPE	C4303789	COL1A2	Unknown	—	Disgenet
EHLERS-DANLOS SYNDROME CAUSED BY TENASCIN-X DEFICIENCY	C1848029 MESH:C536193	TNXB	Unknown	—	CTD Disgenet
EHLERS-DANLOS SYNDROME CLASSIC TYPE	C4225429	COL1A1	Unknown	—	Disgenet

Ehlers-danlos syndrome