ECM proteoglycans

Pathway network for the ECM proteoglycans SuperPath

Sources:

Reactome
WikiPathways

Pathways in the ECM proteoglycans SuperPath

#	Name	Source	Genes
1	ECM proteoglycans	Reactome	ACAN AGRN APP ASPN BCAN BGN COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL9A1 COL9A2 COL9A3 COMP DAG1 DCN DMP1 DSPP FMOD FN1 HAPLN1 HSPG2 IBSP ITGA2 ITGA2B ITGA7 ITGA8 ITGA9 ITGAV ITGAX ITGB1 ITGB3 ITGB5 ITGB6 LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMC1 LRP4 LUM MATN1 MATN3 MATN4 MUSK NCAM1 NCAN PTPRS SERPINE1 SPARC TGFB1 TGFB2 TGFB3 TNC TNN TNR TNXB VCAN VTN (see all 76) (see less)
2	Integrin cell surface interactions	Reactome	AGRN BSG CD44 CD47 COL10A1 COL13A1 COL16A1 COL18A1 COL1A1 COL1A2 COL23A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL7A1 COL8A1 COL8A2 COL9A1 COL9A2 COL9A3 COMP F11R FBN1 FGA FGB FGG FN1 HSPG2 IBSP ICAM1 ICAM2 ICAM3 ICAM4 ICAM5 ITGA1 ITGA10 ITGA11 ITGA2 ITGA2B ITGA3 ITGA4 ITGA5 ITGA6 ITGA7 ITGA8 ITGA9 ITGAD ITGAE ITGAL ITGAM ITGAV ITGAX ITGB1 ITGB2 ITGB3 ITGB5 ITGB6 ITGB7 ITGB8 JAM2 JAM3 KDR LUM MADCAM1 PECAM1 SPP1 THBS1 TNC VCAM1 VTN VWF (see all 84) (see less)
3	MED and pseudoachondroplasia genes	WikiPathways	COL9A1 COL9A2 COL9A3 COMP MATN1 MATN3 (see all 6) (see less)

Gene overlap in member pathways for ECM proteoglycans SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	3
2	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	3
3	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	3
4	COMP	Cartilage Oligomeric Matrix Protein	Protein Coding	3
5	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	2
6	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	2
7	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	2
8	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	2
9	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	2
10	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	2
11	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	2
12	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	2
13	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	2
14	COL4A6	Collagen Type IV Alpha 6 Chain	Protein Coding	2
15	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	2
16	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	2
17	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	2
18	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	2
19	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	2
20	COL6A6	Collagen Type VI Alpha 6 Chain	Protein Coding	2
21	FN1	Fibronectin 1	Protein Coding	2
22	COL6A5	Collagen Type VI Alpha 5 Chain	Protein Coding	2
23	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	2
24	TNC	Tenascin C	Protein Coding	2
25	IBSP	Integrin Binding Sialoprotein	Protein Coding	2
26	ITGA2	Integrin Subunit Alpha 2	Protein Coding	2
27	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	2
28	ITGA7	Integrin Subunit Alpha 7	Protein Coding	2
29	ITGA9	Integrin Subunit Alpha 9	Protein Coding	2
30	ITGAV	Integrin Subunit Alpha V	Protein Coding	2
31	ITGAX	Integrin Subunit Alpha X	Protein Coding	2
32	ITGB1	Integrin Subunit Beta 1	Protein Coding	2
33	ITGB3	Integrin Subunit Beta 3	Protein Coding	2
34	ITGB5	Integrin Subunit Beta 5	Protein Coding	2
35	ITGB6	Integrin Subunit Beta 6	Protein Coding	2
36	AGRN	Agrin	Protein Coding	2
37	LUM	Lumican	Protein Coding	2
38	MATN1	Matrilin 1	Protein Coding	2
39	MATN3	Matrilin 3	Protein Coding	2
40	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	2
41	VTN	Vitronectin	Protein Coding	2
42	ITGA8	Integrin Subunit Alpha 8	Protein Coding	2
43	HAPLN1	Hyaluronan And Proteoglycan Link Protein 1	Protein Coding	1
44	VCAN	Versican	Protein Coding	1
45	NCAN	Neurocan	Protein Coding	1
46	DAG1	Dystroglycan 1	Protein Coding	1
47	DCN	Decorin	Protein Coding	1
48	DMP1	Dentin Matrix Acidic Phosphoprotein 1	Protein Coding	1
49	ACAN	Aggrecan	Protein Coding	1
50	DSPP	Dentin Sialophosphoprotein	Protein Coding	1
51	FMOD	Fibromodulin	Protein Coding	1
52	LAMA1	Laminin Subunit Alpha 1	Protein Coding	1
53	APP	Amyloid Beta Precursor Protein	Protein Coding	1
54	LAMA2	Laminin Subunit Alpha 2	Protein Coding	1
55	LAMA3	Laminin Subunit Alpha 3	Protein Coding	1
56	LAMA4	Laminin Subunit Alpha 4	Protein Coding	1
57	LAMA5	Laminin Subunit Alpha 5	Protein Coding	1
58	LAMB1	Laminin Subunit Beta 1	Protein Coding	1
59	LAMB2	Laminin Subunit Beta 2	Protein Coding	1
60	LAMC1	Laminin Subunit Gamma 1	Protein Coding	1
61	LRP4	LDL Receptor Related Protein 4	Protein Coding	1
62	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	1
63	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	1
64	SERPINE1	Serpin Family E Member 1	Protein Coding	1
65	ASPN	Asporin	Protein Coding	1
66	PTPRS	Protein Tyrosine Phosphatase Receptor Type S	Protein Coding	1
67	BGN	Biglycan	Protein Coding	1
68	BCAN	Brevican	Protein Coding	1
69	TNN	Tenascin N	Protein Coding	1
70	SPARC	Secreted Protein Acidic And Cysteine Rich	Protein Coding	1
71	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
72	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	1
73	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	1
74	TNR	Tenascin R	Protein Coding	1
75	TNXB	Tenascin XB	Protein Coding	1
76	MATN4	Matrilin 4	Protein Coding	1
77	COL7A1	Collagen Type VII Alpha 1 Chain	Protein Coding	1
78	COL8A1	Collagen Type VIII Alpha 1 Chain	Protein Coding	1
79	COL8A2	Collagen Type VIII Alpha 2 Chain	Protein Coding	1
80	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	1
81	COL13A1	Collagen Type XIII Alpha 1 Chain	Protein Coding	1
82	COL16A1	Collagen Type XVI Alpha 1 Chain	Protein Coding	1
83	FBN1	Fibrillin 1	Protein Coding	1
84	FGA	Fibrinogen Alpha Chain	Protein Coding	1
85	FGB	Fibrinogen Beta Chain	Protein Coding	1
86	FGG	Fibrinogen Gamma Chain	Protein Coding	1
87	ITGA11	Integrin Subunit Alpha 11	Protein Coding	1
88	ICAM1	Intercellular Adhesion Molecule 1	Protein Coding	1
89	ICAM2	Intercellular Adhesion Molecule 2	Protein Coding	1
90	ICAM3	Intercellular Adhesion Molecule 3	Protein Coding	1
91	ICAM4	Intercellular Adhesion Molecule 4 (Landsteiner-Wiener Blood Group)	Protein Coding	1
92	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
93	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
94	ITGA3	Integrin Subunit Alpha 3	Protein Coding	1
95	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
96	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
97	ITGAD	Integrin Subunit Alpha D	Protein Coding	1
98	ITGAE	Integrin Subunit Alpha E	Protein Coding	1
99	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
100	ITGAM	Integrin Subunit Alpha M	Protein Coding	1
101	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
102	ITGB7	Integrin Subunit Beta 7	Protein Coding	1
103	ITGB8	Integrin Subunit Beta 8	Protein Coding	1
104	KDR	Kinase Insert Domain Receptor	Protein Coding	1
105	F11R	F11 Receptor	Protein Coding	1
106	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	1
107	JAM2	Junctional Adhesion Molecule 2	Protein Coding	1
108	SPP1	Secreted Phosphoprotein 1	Protein Coding	1
109	BSG	Basigin (Ok Blood Group)	Protein Coding	1
110	THBS1	Thrombospondin 1	Protein Coding	1
111	ICAM5	Intercellular Adhesion Molecule 5	Protein Coding	1
112	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	1
113	VWF	Von Willebrand Factor	Protein Coding	1
114	COL18A1	Collagen Type XVIII Alpha 1 Chain	Protein Coding	1
115	MADCAM1	Mucosal Vascular Addressin Cell Adhesion Molecule 1	Protein Coding	1
116	JAM3	Junctional Adhesion Molecule 3	Protein Coding	1
117	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
118	COL23A1	Collagen Type XXIII Alpha 1 Chain	Protein Coding	1
119	CD44	CD44 Molecule (IN Blood Group)	Protein Coding	1
120	CD47	CD47 Molecule	Protein Coding	1

Disorders associated with ECM proteoglycans SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TGFB2, TNXB	10.40
2	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Enrichment	COL9A1, COL9A2, COL9A3	10.25
3	Autosomal recessive stickler syndrome	Enrichment	COL9A1, COL9A2, COL9A3	9.62
4	Stickler syndrome	Enrichment	COL2A1, COL9A1, COL9A2, COL9A3, VCAN	8.93
5	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	BGN, COL1A1, COL3A1, COL5A1, COL5A2, TGFB2, TGFB3	8.37
6	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	7.87
7	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	7.87
8	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5, FN1, LAMA5, LAMB2	6.88
9	Collagen vi-related dystrophies	Enrichment	COL6A1, COL6A2, COL6A3	6.77
10	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	6.77
11	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	6.77
12	Dysfibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.64
13	Familial dysfibrinogenemia	Enrichment	FGA, FGB, FGG	6.64
14	Familial hypofibrinogenemia	Enrichment	FGA, FGB, FGG	6.64
15	Bethlem muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	6.17
16	Afibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.04
17	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5, LAMB2	5.93
18	Connective tissue disease	Enrichment	COL2A1, COL5A1, COL9A1, COL9A3, FBN1	5.85
19	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	5.78
20	Ullrich congenital muscular dystrophy 1a	Enrichment	COL6A1, COL6A2, COL6A3	5.78
21	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	5.78
22	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	5.78
23	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2	5.48
24	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	5.48
25	Intervertebral disc disease	Enrichment	COL9A2, COL9A3	5.47
26	Bethlem myopathy 1a	Enrichment	COL6A1, COL6A2, COL6A3	5.24
27	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1, COMP	4.51
28	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1, TNXB	4.51
29	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	4.51
30	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	4.51
31	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	4.51
32	Loeys-dietz syndrome 4	Enrichment	TGFB2, TGFB3	4.51
33	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	4.51
34	Dentinogenesis imperfecta	Enrichment	COL1A2, DSPP	4.51
35	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5, COL4A6	4.51
36	Postsynaptic congenital myasthenic syndromes	Enrichment	AGRN, LRP4, MUSK	4.45
37	Aortic dissection	Enrichment	COL3A1, FBN1	4.42
38	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2, SPARC	4.33
39	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	4.03
40	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	4.03
41	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	4.03
42	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	4.03
43	Multiple epiphyseal dysplasia	Enrichment	COL2A1, COMP	4.03
44	Myopia	Enrichment	COL2A1, COL4A4, FBN1	4.01
45	Myopathy	Enrichment	COL6A1, COL6A2, COL6A3, FBN1	3.98
46	Mccune-albright syndrome	Enrichment	COL2A1, FBN1	3.95
47	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	3.73
48	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	3.73
49	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	3.73
50	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	3.73
51	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	3.73
52	Thrombocytopenia	Enrichment	FGG, ITGA2B, ITGB3, VWF	3.66
53	Retinal detachment	Enrichment	COL2A1, COL9A3	3.51
54	Familial porencephaly	Enrichment	COL4A1, COL4A2	3.51
55	Epidermolysis bullosa	Enrichment	COL7A1, ITGA6	3.43
56	Pseudoachondroplasia	Enrichment	COMP	3.35
57	Epiphyseal dysplasia, multiple, 6	Enrichment	COL9A1	3.35
58	Carpal tunnel syndrome 2	Enrichment	COMP	3.35
59	Epiphyseal dysplasia, multiple, 2	Enrichment	COL9A2	3.35
60	Epiphyseal dysplasia, multiple, 3	Enrichment	COL9A3	3.35
61	Stickler syndrome, type iv	Enrichment	COL9A1	3.35
62	Stickler syndrome, type v	Enrichment	COL9A2	3.35
63	Retinal lattice degeneration	Enrichment	COL9A3	3.35
64	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.34
65	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	3.34
66	Inguinal hernia	Enrichment	COL5A1, FBN1	3.25
67	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	3.19
68	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	3.19
69	Epiphyseal dysplasia, multiple, 5	Enrichment	MATN3	3.05
70	Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type	Enrichment	MATN3	3.05
71	Stickler syndrome, type vi	Enrichment	COL9A3	3.05
72	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1, FGG	2.98
73	Orthostatic intolerance	Enrichment	COL5A1, FBN1	2.98
74	Loeys-dietz syndrome	Enrichment	TGFB2, TGFB3	2.96
75	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1, FBN1	2.88
76	Marfan syndrome	Enrichment	COL2A1, TGFB2	2.87
77	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	2.87
78	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	2.87
79	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	2.78
80	Presynaptic congenital myasthenic syndromes	Enrichment	AGRN, LAMA5	2.78
81	Chronic kidney disease	Enrichment	COL4A4, COL4A5	2.63
82	Multiple sclerosis	Enrichment	LAMA5, LAMB1	2.57
83	Osteoporosis	Enrichment	COL1A1, COL1A2	2.57
84	Walker-warburg syndrome	Enrichment	COL4A1, DAG1	2.57
85	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	2.51
86	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1, FBN1	2.48
87	Cataract	Enrichment	COL18A1, COL5A1	2.48
88	Isolated macular dystrophy	Enrichment	COL4A5, ITGA4	2.48
89	Creatine phosphokinase, elevated serum	Enrichment	DAG1, LAMA2	2.45
90	Hypertension	Enrichment	COL4A4, COL4A5	2.45
91	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1, LAMA2	2.45
92	Beckwith-wiedemann syndrome	Enrichment	COL6A1, COL7A1	2.26
93	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5	2.26
94	Stickler syndrome, type i	Enrichment	COL2A1	2.25
95	Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans	Enrichment	ACAN	2.25
96	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.25
97	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.25
98	Hypophosphatemic rickets, autosomal recessive, 1	Enrichment	DMP1	2.25
99	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.25
100	Alport syndrome 1, x-linked	Enrichment	COL4A5	2.25
101	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.25
102	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.25
103	Czech dysplasia	Enrichment	COL2A1	2.25
104	Kniest dysplasia	Enrichment	COL2A1	2.25
105	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	2.25
106	Dentinogenesis imperfecta 1	Enrichment	DSPP	2.25
107	Dentinogenesis imperfecta, shields type iii	Enrichment	DSPP	2.25
108	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.25
109	Dentin dysplasia, type ii	Enrichment	DSPP	2.25
110	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	2.25
111	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	Enrichment	DSPP	2.25
112	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.25
113	Lissencephaly 5	Enrichment	LAMB1	2.25
114	Deafness, autosomal dominant 56	Enrichment	TNC	2.25
115	Acrogeria, gottron type	Enrichment	COL3A1	2.25
116	Achondrogenesis, type ii	Enrichment	COL2A1	2.25
117	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	Enrichment	TNR	2.25
118	Nephrotic syndrome, type 26	Enrichment	LAMA5	2.25
119	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	Enrichment	MUSK	2.25
120	Deafness, x-linked 6	Enrichment	COL4A6	2.25
121	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	2.25
122	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	2.25
123	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.25
124	Meester-loeys syndrome	Enrichment	BGN	2.25
125	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.25
126	Myosclerosis, autosomal recessive	Enrichment	COL6A2	2.25
127	Porencephaly	Enrichment	COL4A1	2.25
128	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	2.25
129	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	2.25
130	Spondyloepimetaphyseal dysplasia, aggrecan type	Enrichment	ACAN	2.25
131	Camurati-engelmann disease 2	Enrichment	TGFB2	2.25
132	Spondyloepiphyseal dysplasia, kimberley type	Enrichment	ACAN	2.25
133	Cerebral amyloid angiopathy, app-related	Enrichment	APP	2.25
134	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.25
135	Dystonia 27	Enrichment	COL6A3	2.25
136	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	2.25
137	Loeys-dietz syndrome 5	Enrichment	TGFB3	2.25
138	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	2.25
139	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	2.25
140	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.25
141	Asphyxia neonatorum	Enrichment	COL1A1	2.25
142	Bethlem myopathy 1b	Enrichment	COL6A2	2.25
143	Amelogenesis imperfecta, type ih	Enrichment	ITGB6	2.25
144	Col4a1-related disorders	Enrichment	COL4A1	2.25
145	Bethlem myopathy 1c	Enrichment	COL6A3	2.25
146	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.25
147	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	2.25
148	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	2.25
149	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.25
150	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.25
151	Hypochondrogenesis	Enrichment	COL2A1	2.25
152	X-linked alport syndrome	Enrichment	COL4A5	2.25
153	Pneumothorax	Enrichment	COL5A1	2.25
154	Osteochondritis dissecans	Enrichment	ACAN	2.25
155	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.25
156	Abdominal aortic aneurysm	Enrichment	COL3A1	2.25
157	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	2.25
158	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	2.25
159	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.25
160	Lama5-related multisystemic syndrome	Enrichment	LAMA5	2.25
161	Short stature-advanced bone age-early-onset osteoarthritis syndrome	Enrichment	ACAN	2.25
162	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	2.25
163	Blood group system, landsteiner-wiener	Enrichment	ICAM4	2.21
164	Ectopia lentis 1, isolated, autosomal dominant	Enrichment	FBN1	2.21
165	Epidermolysis bullosa dystrophica, pretibial	Enrichment	COL7A1	2.21
166	Epidermolysis bullosa dystrophica, autosomal dominant	Enrichment	COL7A1	2.21
167	Epidermolysis bullosa dystrophica, autosomal recessive	Enrichment	COL7A1	2.21
168	Von willebrand disease, type 1	Enrichment	VWF	2.21
169	Systemic lupus erythematosus 6	Enrichment	ITGAM	2.21
170	Nail disorder, nonsyndromic congenital, 8	Enrichment	COL7A1	2.21
171	Corneal dystrophy, posterior polymorphous, 2	Enrichment	COL8A2	2.21
172	Transient bullous dermolysis of the newborn	Enrichment	COL7A1	2.21
173	Corneal dystrophy, fuchs endothelial, 1	Enrichment	COL8A2	2.21
174	Epidermolysis bullosa with congenital localized absence of skin and deformity of nails	Enrichment	COL7A1	2.21
175	Von willebrand disease, type 2	Enrichment	VWF	2.21
176	Weill-marchesani syndrome 2	Enrichment	FBN1	2.21
177	Geleophysic dysplasia 2	Enrichment	FBN1	2.21
178	Protrusio acetabuli	Enrichment	FBN1	2.21
179	Basal ganglia calcification, idiopathic, 8, autosomal recessive	Enrichment	JAM2	2.21
180	Myasthenic syndrome, congenital, 19	Enrichment	COL13A1	2.21
181	Von willebrand disease, type 3	Enrichment	VWF	2.21
182	Lymphoplasmacytic lymphoma	Enrichment	FBN1	2.21
183	Epidermolysis bullosa pruriginosa	Enrichment	COL7A1	2.21
184	Thyroid gland disease	Enrichment	COL7A1	2.21
185	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts	Enrichment	JAM3	2.21
186	Von willebrand's disease	Enrichment	VWF	2.21
187	Recessive dystrophic epidermolysis bullosa-generalized other	Enrichment	COL7A1	2.21
188	Tufted angioma of skin	Enrichment	KDR	2.21
189	Congenital fibrinogen deficiency	Enrichment	FGG	2.21
190	Localized dystrophic epidermolysis bullosa, acral form	Enrichment	COL7A1	2.21
191	Neonatal marfan syndrome	Enrichment	FBN1	2.21
192	Recessive dystrophic epidermolysis bullosa inversa	Enrichment	COL7A1	2.21
193	Porencephaly-microcephaly-bilateral congenital cataract syndrome	Enrichment	JAM3	2.21
194	Generalized dominant dystrophic epidermolysis bullosa	Enrichment	COL7A1	2.21
195	Brittle bone disorder	Enrichment	COL1A1, COL1A2	2.14
196	Scoliosis	Enrichment	COL2A1, FBN1	2.02
197	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	1.95
198	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	1.95
199	Wagner vitreoretinopathy	Enrichment	VCAN	1.95
200	Camurati-engelmann disease 1	Enrichment	TGFB1	1.95
201	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	1.95
202	Bruck syndrome 1	Enrichment	COL1A2	1.95
203	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	1.95
204	Spondyloepimetaphyseal dysplasia, x-linked	Enrichment	BGN	1.95
205	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	1.95
206	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	1.95
207	Corneal dystrophy, congenital stromal	Enrichment	DCN	1.95
208	Legg-calve-perthes disease	Enrichment	COL2A1	1.95
209	Lissencephaly 1	Enrichment	LAMB1	1.95
210	Specific language impairment 5	Enrichment	COL4A4	1.95
211	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	1.95
212	Pierson syndrome	Enrichment	LAMB2	1.95
213	Sclerosteosis 2	Enrichment	LRP4	1.95
214	Schwartz-jampel syndrome, type 1	Enrichment	HSPG2	1.95
215	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.95
216	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.95
217	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	1.95
218	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	1.95
219	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	1.95
220	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	1.95
221	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	1.95
222	Autosomal recessive hypophosphatemic rickets	Enrichment	DMP1	1.95
223	Sclerosteosis	Enrichment	LRP4	1.95
224	Osteogenesis imperfecta, type xvii	Enrichment	SPARC	1.95
225	Camurati-engelmann disease	Enrichment	TGFB1	1.95
226	Glomerulonephritis	Enrichment	COL4A4	1.95
227	Stickler syndrome, type ii	Enrichment	COL1A1	1.95
228	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.95
229	Myasthenic syndrome, congenital, 17	Enrichment	LRP4	1.95
230	Degenerative disc disease	Enrichment	ASPN	1.95
231	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	1.95
232	Wagner disease	Enrichment	VCAN	1.95
233	Acromicric dysplasia	Enrichment	FBN1	1.91
234	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.91
235	Metaphyseal chondrodysplasia, schmid type	Enrichment	COL10A1	1.91
236	Stiff skin syndrome	Enrichment	FBN1	1.91
237	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.91
238	Beaulieu-boycott-innes syndrome	Enrichment	FBN1	1.91
239	Angioma, tufted	Enrichment	KDR	1.91
240	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	Enrichment	ITGA3	1.91
241	Recessive dystrophic epidermolysis bullosa	Enrichment	COL7A1	1.91
242	Marfanoid-progeroid-lipodystrophy syndrome	Enrichment	FBN1	1.91
243	Glaucoma, primary closed-angle	Enrichment	COL18A1	1.91
244	Epidermolysis bullosa dystrophica	Enrichment	COL7A1	1.91
245	Lens subluxation	Enrichment	FBN1	1.91
246	Stargardt disease 1	Enrichment	COL18A1, COL2A1	1.83
247	Genetic steroid-resistant nephrotic syndrome	Enrichment	COL4A3, LAMA5	1.81
248	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.78
249	Retinal arteries, tortuosity of	Enrichment	COL4A1	1.78
250	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.78
251	Dyssegmental dysplasia, silverman-handmaker type	Enrichment	HSPG2	1.78
252	Telecanthus	Enrichment	COL5A2	1.78
253	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.78
254	Ehlers-danlos syndrome, classic-like, 1	Enrichment	TNXB	1.78
255	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	1.78
256	Caffey disease	Enrichment	COL1A1	1.78
257	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	Enrichment	ITGA7	1.78
258	Brain small vessel disease 2	Enrichment	COL4A2	1.78
259	Cenani-lenz syndactyly syndrome	Enrichment	LRP4	1.78
260	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	1.78
261	Vesicoureteral reflux 8	Enrichment	TNXB	1.78
262	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	1.78
263	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	1.78
264	Bronchopulmonary dysplasia	Enrichment	MUSK	1.78
265	Poretti-boltshauser syndrome	Enrichment	LAMA1	1.78
266	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	1.78
267	Hematuria, benign familial, 2	Enrichment	COL4A3	1.78
268	Familial vesicoureteral reflux	Enrichment	TNXB	1.78
269	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.78
270	Alopecia - intellectual disability syndrome	Enrichment	ITGB6	1.78
271	Lama2-related muscular dystrophy	Enrichment	LAMA2	1.78
272	Contractural arachnodactyly, congenital	Enrichment	FBN1	1.73
273	Achondroplasia	Enrichment	FBN1	1.73
274	Nail disorder, nonsyndromic congenital, 4	Enrichment	COL7A1	1.73
275	Periventricular nodular heterotopia 1	Enrichment	VWF	1.73
276	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	1.73
277	Weill-marchesani syndrome 1	Enrichment	FBN1	1.73
278	Isolated ectopia lentis	Enrichment	FBN1	1.73
279	Geleophysic dysplasia	Enrichment	FBN1	1.73
280	Hyperpigmentation of the skin	Enrichment	COL7A1	1.73
281	Cerebral palsy	Enrichment	COL4A1, COL4A2	1.70
282	Sensorineural hearing loss	Enrichment	COL9A1	1.68
283	Amelogenesis imperfecta, type iiia	Enrichment	ITGB6	1.65
284	Phenylketonuria	Enrichment	COL1A1	1.65
285	Schizencephaly	Enrichment	COL4A1	1.65
286	Dentin dysplasia, type i	Enrichment	DSPP	1.65
287	Diabetes insipidus	Enrichment	MATN4	1.65
288	Rare x-linked non-syndromic sensorineural deafness type dfn	Enrichment	COL4A6	1.65
289	Pseudomyogenic hemangioendothelioma	Enrichment	SERPINE1	1.65
290	Systemic lupus erythematosus	Enrichment	ITGAM, SPP1	1.62
291	Retinitis pigmentosa 26	Enrichment	ITGA4	1.61
292	Weill-marchesani syndrome	Enrichment	FBN1	1.61
293	Aortic aneurysm	Enrichment	FBN1	1.61
294	Epidermolytic hyperkeratosis	Enrichment	COL7A1	1.61
295	Knobloch syndrome	Enrichment	COL18A1	1.61
296	Cerebral malaria	Enrichment	ICAM1	1.61
297	Mitral valve insufficiency	Enrichment	FBN1	1.61
298	Pediatric systemic lupus erythematosus	Enrichment	SPP1	1.61
299	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TGFB3	1.56
300	Myasthenic syndrome, congenital, 8	Enrichment	AGRN	1.56
301	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.56
302	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	LAMA2	1.56
303	Holoprosencephaly	Enrichment	MATN4	1.56
304	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TGFB3	1.56
305	Familial cerebral saccular aneurysm	Enrichment	COL3A1	1.56
306	Polycystic liver disease 1 with or without kidney cysts	Enrichment	FBN1	1.51
307	Epidermolytic hyperkeratosis 1	Enrichment	COL7A1	1.51
308	Amyloidosis, hereditary systemic 2	Enrichment	FGA	1.51
309	Arthrogryposis, renal dysfunction, and cholestasis 1	Enrichment	FBN1	1.51
310	Knobloch syndrome 1	Enrichment	COL18A1	1.51
311	Goldberg-shprintzen syndrome	Enrichment	FBN1	1.51
312	Fuchs' endothelial dystrophy	Enrichment	COL8A2	1.51
313	Polycystic liver disease 1	Enrichment	FBN1	1.51
314	Atrial septal defect 1	Enrichment	TGFB2	1.48
315	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	ACAN	1.48
316	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.48
317	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Enrichment	TNXB	1.48
318	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	LAMA3	1.48
319	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3	1.48
320	Holoprosencephaly 1	Enrichment	MATN4	1.48
321	Anterior segment dysgenesis 5	Enrichment	COL4A1	1.48
322	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	1.48
323	Junctional epidermolysis bullosa non-herlitz type	Enrichment	LAMA3	1.48
324	Pain disorder	Enrichment	COL5A1	1.48
325	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	1.48
326	21-hydroxylase-deficient congenital adrenal hyperplasia	Enrichment	TNXB	1.48
327	Corneal dystrophy, posterior polymorphous, 1	Enrichment	COL8A2	1.44
328	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6	1.44
329	Hemangioma, capillary infantile	Enrichment	KDR	1.44
330	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.41
331	Alzheimer's disease 1	Enrichment	APP	1.41
332	Early-onset autosomal dominant alzheimer disease	Enrichment	APP	1.41
333	Hypophosphatemic rickets	Enrichment	DMP1	1.41
334	Nevus, epidermal	Enrichment	COL7A1	1.37
335	Thrombophilia due to thrombin defect	Enrichment	FGA	1.37
336	Brugada syndrome 1	Enrichment	FBN1	1.37
337	Gastroesophageal reflux	Enrichment	COL5A1	1.36
338	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8	1.36
339	Congenital muscular dystrophy	Enrichment	LAMA2	1.36
340	Basal ganglia calcification, idiopathic, 1	Enrichment	JAM2	1.31
341	Junctional epidermolysis bullosa	Enrichment	LAMA3	1.31
342	Renal agenesis, bilateral	Enrichment	ITGA8	1.31
343	Primary ovarian insufficiency	Enrichment	KDR, THBS1	1.29
344	Peters-plus syndrome	Enrichment	COL4A1	1.26
345	Amelogenesis imperfecta, type ie	Enrichment	ITGB6	1.26
346	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	MUSK	1.26
347	Stroke, ischemic	Enrichment	FBN1	1.22
348	Melanoma	Enrichment	FBN1	1.22
349	Cutis laxa	Enrichment	COL5A1	1.19
350	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	TGFB3	1.19
351	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	TGFB3	1.19
352	Pectus excavatum	Enrichment	FBN1	1.18
353	Ichthyosis	Enrichment	COL7A1	1.18
354	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1	1.15
355	Neural tube defects	Enrichment	ITGB1	1.15
356	Alzheimer's disease	Enrichment	APP	1.15
357	Clubfoot	Enrichment	COL5A1	1.15
358	Chromosome 1p36 deletion syndrome	Enrichment	HSPG2	1.15
359	Nk-cell enteropathy	Enrichment	PTPRS	1.15
360	Lipoid congenital adrenal hyperplasia	Enrichment	TNXB	1.12
361	Congenital myasthenic syndrome	Enrichment	AGRN	1.12
362	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	TGFB3	1.12
363	Diaphragmatic hernia, congenital	Enrichment	FBN1	1.11
364	Hereditary retinal dystrophy	Enrichment	COL2A1, COL9A1, LAMA1, VCAN	1.10
365	Fundus dystrophy	Enrichment	COL2A1, COL9A1, LAMA1, VCAN	1.10
366	Congenital myopathy 4a, autosomal dominant	Enrichment	ITGA7	1.09
367	Corpus callosum, agenesis of	Enrichment	COL4A1	1.09
368	Anterior segment dysgenesis	Enrichment	COL4A1	1.09
369	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	1.09
370	Isolated corpus callosum agenesis	Enrichment	COL4A1	1.09
371	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	COL4A1	1.09
372	Alzheimer disease, familial, 1	Enrichment	APP	1.04
373	Perrault syndrome 1	Enrichment	FBN1	1.02
374	Heart, malformation of	Enrichment	COL2A1	1.02
375	Polycystic kidney disease	Enrichment	COL4A4	1.02
376	Myocardial infarction	Enrichment	ITGB3	0.93
377	Hepatoblastoma	Enrichment	COL7A1	0.91
378	Muscular dystrophy	Enrichment	COL6A2	0.90
379	Skin disease	Enrichment	COL7A1	0.89
380	Malaria	Enrichment	ICAM1	0.88
381	Tetralogy of fallot	Enrichment	KDR	0.83
382	Severe covid-19	Enrichment	ITGAV	0.82
383	Microcephaly	Enrichment	COL4A1, MATN4	0.82
384	Cystic fibrosis	Enrichment	TGFB1	0.78
385	Cakut	Enrichment	COL4A1	0.76
386	Fetal akinesia deformation sequence 1	Enrichment	MUSK	0.73
387	Charcot-marie-tooth disease	Enrichment	LAMA2	0.69
388	Hypertelorism	Enrichment	COL1A1	0.60
389	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	TNC	0.60
390	Familial isolated dilated cardiomyopathy	Enrichment	LAMA4	0.59
391	Cone-rod dystrophy 2	Enrichment	ITGA4	0.46
392	Rare genetic deafness	Enrichment	COL4A5	0.44
393	Dilated cardiomyopathy	Enrichment	LAMA2	0.44
394	Retinitis pigmentosa	Enrichment	COL18A1	0.13

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

ECM proteoglycans

Pathway Network for ECM proteoglycans

Pathway network for the ECM proteoglycans SuperPath

Member Pathways for ECM proteoglycans

Pathways in the ECM proteoglycans SuperPath

Gene overlap in member pathways for ECM proteoglycans SuperPath

Associated Genes for ECM proteoglycans

Associated Disorders for ECM proteoglycans

Disorders associated with ECM proteoglycans SuperPath

STRING Interaction Network for ECM proteoglycans

Sources for ECM proteoglycans