Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, VASCULAR TYPE	MONDO:0007524	COL3A1	Unknown	—	GenCC	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
CLASSICAL EHLERS-DANLOS SYNDROME	287	COL1A1	Unknown	10739762	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL5A1	Unknown	15580559 22696272	Orphanet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		COL5A2	Unknown	15580559 22696272	Orphanet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
CLASSICAL-LIKE EHLERS-DANLOS SYNDROME TYPE 1	230839	TNXB	Unknown	11642233	Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
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	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
COL1A2-RELATED EHLERS-DANLOS SYNDROME	MONDO:0100606	COL1A2	Unknown	10982177 1556139 1577745 1712342 23692737 24440294 2454224 32091183 9295084	ClinGen, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS AND OSTEOGENESIS IMPERFECTA SYNDROME	C4518787	COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
EHLERS-DANLOS AND OSTEOGENESIS IMPERFECTA SYNDROME	C4518787	COL1A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS SYNDROME	C0013720 MESH:D004535 MONDO:0020066	C1R	Causal	—	CTD, Disgenet	Phagosome Complement and coagulation cascades Pertussis +6 more
		COL1A1	Causal	10739762	CTD, Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Causal	—	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		COL3A1	Causal	—	CTD, Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		COL5A1	Causal	8923000 10739762 15580559 22696272	CTD, Disgenet, GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		COL5A2	Causal	15580559 22696272	CTD, Disgenet, GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		FBN2	Causal	—	Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
		PLOD1	Causal	—	CTD, Disgenet	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
		PRDM5	Causal	—	CTD, Disgenet	—
		SMAD3	Causal	—	Disgenet	FoxO signaling pathway Cell cycle Endocytosis +34 more
		TGFB2	Causal	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +30 more
		TGFBR1	Causal	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGFBR2	Causal	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		THBS2	Causal	—	CTD, Disgenet	Phagosome PI3K-Akt signaling pathway Focal adhesion +7 more
		TNXB	Causal	11642233 12865992	CTD, Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
		ZNF469	Causal	—	CTD, Disgenet	—
		ADAMTS2	Unknown	—	CTD, Disgenet	Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAMTSL2	Unknown	—	Disgenet, GenCC	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		AEBP1	Unknown	—	CTD	—
		ATP6V0D2	Unknown	—	Disgenet, GenCC	Oxidative phosphorylation Metabolic pathways Lysosome +14 more
		ATP7A	Unknown	—	Disgenet	Platinum drug resistance Mineral absorption Ion influx/efflux at host-pathogen interface +1 more
		B3GALT6	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
		B4GALT7	Unknown	—	CTD, Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
		C1S	Unknown	—	CTD	Complement and coagulation cascades Pertussis Staphylococcus aureus infection +5 more
		CHST14	Unknown	—	CTD, Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Dermatan sulfate biosynthesis Defective CHST14 causes EDS, musculocontractural type
		COL12A1	Unknown	—	CTD	Protein digestion and absorption Collagen degradation Collagen biosynthesis and modifying enzymes +2 more
		CYP21A2	Unknown	—	Disgenet	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion +6 more
		DSE	Unknown	—	CTD, Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Dermatan sulfate biosynthesis
		FBN1	Unknown	—	CTD	TGF-beta signaling pathway Cytoskeleton in muscle cells Degradation of the extracellular matrix +5 more
		FKBP14	Unknown	—	CTD, Disgenet	XBP1(S) activates chaperone genes
		FLNA	Unknown	—	CTD, Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		LOX	Unknown	—	Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		MAP3K7	Unknown	—	CTD	MAPK signaling pathway NF-kappa B signaling pathway Autophagy - animal +42 more
		SLC39A13	Unknown	18985159	CTD, Disgenet	Alzheimer disease Parkinson disease
		TAB2	Unknown	—	CTD	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation +33 more
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	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS SYNDROME CAUSED BY TENASCIN-X DEFICIENCY	C1848029 MESH:C536193	TNXB	Unknown	—	CTD, Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
EHLERS-DANLOS SYNDROME CLASSIC TYPE	C4225429	COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 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
		FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		MED12	Unknown	—	Disgenet	Thyroid hormone signaling pathway PPARA activates gene expression Generic Transcription Pathway +1 more
		MYH11	Unknown	—	Disgenet	Virion - Lassa virus and SFTS virus Vascular smooth muscle contraction Tight junction +6 more
		SLC2A10	Unknown	—	Disgenet	Cellular hexose transport Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
		TGFBR1	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		THSD7B	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY	MONDO:0011670	TNXB	Causal	11925569 26799614 27297501 27582382 30605228	ClinVar, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
EHLERS-DANLOS SYNDROME KYPHOSCOLIOTIC AND DEAFNESS TYPE	C4303788	FKBP14	Unknown	—	Disgenet	XBP1(S) activates chaperone genes
EHLERS-DANLOS SYNDROME PROGEROID TYPE	C4552003	B4GALT7	Causal	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME PROGEROID TYPE	C4552003	B3GALT6	Unknown	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME TYPE 1	C0268335 MESH:C536194	AEBP1	Unknown	—	Disgenet	—
		COL1A1	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		COL5A1	Unknown	20635400 8752669 9042913	CTD, 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
EHLERS-DANLOS SYNDROME TYPE 2	C0268336 MESH:C536195	AEBP1	Unknown	—	Disgenet	—
		COL5A1	Unknown	8752669 9042913	CTD, 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
EHLERS-DANLOS SYNDROME TYPE 5	C0268341	FLNA	Unknown	—	Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
EHLERS-DANLOS SYNDROME TYPE 6	C0268342 MESH:C536198	ABCD1	Unknown	—	Disgenet	ABC transporters Peroxisome ABC transporters in lipid homeostasis +5 more
		DCLRE1C	Unknown	—	Disgenet	Non-homologous end-joining Primary immunodeficiency Nonhomologous End-Joining (NHEJ)
		PLOD1	Unknown	15666309	CTD, Disgenet	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
		PRDM5	Unknown	—	Disgenet	—
		ZNF469	Unknown	—	Disgenet	—
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	C0268345 MONDO:0007525	COL1A1	Causal	9295084 3082886 18409203	ClinVar, Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	C0268345 MONDO:0007525	COL1A2	Causal	1556139 1577745 1712342 24440294 2454224 32091183 9295084	Disgenet, GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	C4551623 130060	ALB	Unknown	—	Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		COL1A1	Unknown	—	Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL1A2	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
		COL5A2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821 MONDO:0040501	COL1A2	Causal	11073542 1577745 23158907 24440294 2777808 30082390 31218159 8081389 9295084	ClinVar, GWAS catalog, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM	MESH:C536200	COL1A2	Unknown	15077201	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE	225320 MONDO:0009159	COL1A2	Causal	15077201	ClinGen, ClinVar, GWAS catalog, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more
EHLERS-DANLOS SYNDROME, CLASSIC TYPE	MONDO:0007522	COL1A1	Causal	10739762	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
		COL5A1	Causal	—	ClinGen, GenCC	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
		COL5A2	Causal	15580559 22696272 23587214 27656288 28734943 33143196 738278 7704020 8535602 9425231 9783710	ClinGen, GWAS catalog	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	130000 MONDO:0019567	COL5A1	Causal	23587214 32938213	ClinVar, GWAS catalog, HPO	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	130000 MONDO:0019567	COL1A1	Unknown	10739762 17211858 19669491 25597651 28102596 28206959 31323331 31531849 32736638 34265140	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2	130010 MONDO:0019568	COL5A2	Causal	—	ClinVar, GenCC, HPO	Cytoskeleton in muscle cells Protein digestion and absorption Collagen degradation +10 more
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1	606408	TNXB	Unknown	—	HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000 MONDO:0054813	AEBP1	Causal	—	ClinVar, GenCC, HPO	—
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3	620865 C5935631 MONDO:0971044	THBS2	Causal	38433265	ClinVar, Disgenet, HPO	Phagosome PI3K-Akt signaling pathway Focal adhesion +7 more
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	225410 C2700425 MONDO:0009161	ADAMTS2	Causal	10417273 26765342	ClinVar, Disgenet, GWAS catalog, HPO	Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	225410 C2700425 MONDO:0009161	ADAMTSL2	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
EHLERS-DANLOS SYNDROME, DOMINANT TYPE 4	C0268339	COL3A1	Causal	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE 1	MONDO:0016002	PLOD1	Causal	8163671 5016372 9450904 1345174 8449506 15666309	ClinVar, GWAS catalog	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1	225400	PLOD1	Unknown	—	HPO	Lysine degradation Metabolic pathways Collagen biosynthesis and modifying enzymes
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2	614557 C3281160 MONDO:0013800 OMIM:614557	FKBP14	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	XBP1(S) activates chaperone genes
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE	MONDO:0011142	CHST14	Causal	22581468 20533528	GWAS catalog	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Dermatan sulfate biosynthesis Defective CHST14 causes EDS, musculocontractural type
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE	MONDO:0011142	DSE	Unknown	23704329	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Dermatan sulfate biosynthesis
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	C1866294 MESH:C000600608 MONDO:0020681	CHST14	Causal	20004762 20533528 20842734	CTD, ClinVar, Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Dermatan sulfate biosynthesis Defective CHST14 causes EDS, musculocontractural type
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	C1866294 MESH:C000600608 MONDO:0020681	DSE	Unknown	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Dermatan sulfate biosynthesis
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2	MONDO:0014236	DSE	Causal	19687302 23704329 25703627 28229453 31655143 32130795 34184791 35842784	ClinGen, ClinVar, Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Dermatan sulfate biosynthesis
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1	601776	CHST14	Unknown	—	HPO	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Dermatan sulfate biosynthesis Defective CHST14 causes EDS, musculocontractural type
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2	615539 C3809845 OMIM:615539	DSE	Unknown	—	CTD, Disgenet, HPO	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways Dermatan sulfate biosynthesis
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE 1	MONDO:0020684	C1R	Causal	31749804	ClinVar, GWAS catalog	Phagosome Complement and coagulation cascades Pertussis +6 more
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE 2	MONDO:0014954	C1S	Causal	—	ClinVar, GenCC	Complement and coagulation cascades Pertussis Staphylococcus aureus infection +5 more
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1	130080 C4551499	C1R	Unknown	—	Disgenet, HPO	Phagosome Complement and coagulation cascades Pertussis +6 more
		C1RL	Unknown	—	Disgenet	—
		C1S	Unknown	—	Disgenet	Complement and coagulation cascades Pertussis Staphylococcus aureus infection +5 more
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	C4310681 617174 OMIM:617174	C1R	Unknown	—	Disgenet	Phagosome Complement and coagulation cascades Pertussis +6 more
		C1RL	Unknown	—	Disgenet	—
		C1S	Unknown	—	CTD, Disgenet, HPO	Complement and coagulation cascades Pertussis Staphylococcus aureus infection +5 more
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE	MONDO:0007527	C1R	Unknown	27745832	GWAS catalog	Phagosome Complement and coagulation cascades Pertussis +6 more
EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE	MONDO:0007527	C1S	Unknown	27745832	GWAS catalog	Complement and coagulation cascades Pertussis Staphylococcus aureus infection +5 more
EHLERS-DANLOS SYNDROME, PROGEROID FORM	MESH:C536201	B3GALT6	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME, PROGEROID FORM	MESH:C536201	B4GALT7	Unknown	—	CTD	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE	MONDO:0012873	SLC39A13	Causal	18513683 18985159	ClinGen, ClinVar, Disgenet	Alzheimer disease Parkinson disease
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE	MONDO:0007526	B4GALT7	Unknown	15211654	GWAS catalog	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1	130070 MONDO:0020682	B4GALT7	Causal	15211654 3631078 24755949 26940150 27320698 10506123	ClinGen, ClinVar, GWAS catalog, HPO	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2	615349 MONDO:0014139	B3GALT6	Causal	29443383 23664117	ClinVar, Disgenet, HPO	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways +2 more
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3	612350	SLC39A13	Unknown	—	HPO	Alzheimer disease Parkinson disease
EHLERS-DANLOS SYNDROME, TYPE 3	C0268337	COL3A1	Causal	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
		NOTCH1	Unknown	—	Disgenet	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation +20 more
		TNXB	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
EHLERS-DANLOS SYNDROME, TYPE 4		COL3A1	Causal	—	ClinVar	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
EHLERS-DANLOS SYNDROME, TYPE IV	C0268338	COL3A1	Unknown	—	Disgenet	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
EHLERS-DANLOS SYNDROME, TYPE IV	C0268338	FBN2	Unknown	—	Disgenet	Cytoskeleton in muscle cells Degradation of the extracellular matrix Elastic fibre formation +1 more
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	MESH:C562625	COL1A1	Unknown	—	CTD	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE	MESH:C567527	ADAMTS2	Unknown	—	CTD	Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
EHLERS-DANLOS SYNDROME, TYPE VIII	C0268347 MESH:C562626	C1R	Unknown	—	CTD, Disgenet	Phagosome Complement and coagulation cascades Pertussis +6 more
EHLERS-DANLOS SYNDROME, TYPE VIII	C0268347 MESH:C562626	C1S	Unknown	—	Disgenet	Complement and coagulation cascades Pertussis Staphylococcus aureus infection +5 more
EHLERS-DANLOS SYNDROME, VASCULAR TYPE	130050 MONDO:0017314	COL3A1	Unknown	10706896 11577371 14623400 21071432 22038052 23374456 2365710 27799058 28102592 2834369 29551664 9050868	ClinGen, GWAS catalog, HPO	Platelet activation Cytoskeleton in muscle cells Relaxin signaling pathway +16 more
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME	230857 MONDO:0016470	COL1A1	Unknown	15728585 23692737 25674388	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +26 more
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME	230857 MONDO:0016470	COL1A2	Unknown	23692737	GWAS catalog, Orphanet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +27 more

Ehlers-danlos syndrome

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