Collagen Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLL015 MIFTS: 49	Collagen Disease Categories: Bone diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Collagen Disease

MalaCards integrated aliases for Collagen Disease:

Name: Collagen Disease ¹¹ ¹⁴ ⁷⁵

Collagen Diseases ⁵³ ⁴³ ⁷¹

Collagen Disorder ¹¹ ⁷⁵

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:854

MeSH ⁴³ D003095

NCIt ⁴⁹ C27204

SNOMED-CT ⁶⁸ 268048008

UMLS ⁷¹ C0009326

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Summaries for Collagen Disease

Disease Ontology: ¹¹ A connective tissue disease that characterized by connective tissue disease that has material basis in inheritable defects in collagen.

MalaCards based summary: Collagen Disease, also known as collagen diseases, is related to systemic scleroderma and scleroderma, familial progressive. An important gene associated with Collagen Disease is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Response to elevated platelet cytosolic Ca2+. The drugs Acetaminophen and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and kidney, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia ⁷⁵ Collagen disease: Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid... more...

Collagen disorder: A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as... more...

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Related Diseases for Collagen Disease

Diseases in the Collagen Disease family:

Type Ii Collagen Disorders

Diseases related to Collagen Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 462)

#	Related Disease	Score	Top Affiliating Genes
1	systemic scleroderma	31.1	SNRNP70 FBN1 COL1A2 COL1A1
2	scleroderma, familial progressive	30.9	FBN1 COL1A2 COL1A1 CD36
3	vasculitis	30.8	VWF THBD SERPINA3 APOH
4	raynaud disease	30.7	VWF THBD SNRNP70 APOH
5	ehlers-danlos syndrome	30.7	TNXB SLC39A13 SERPINA3 PLOD1 FBN1 ELN
6	antiphospholipid syndrome	30.5	VWF THBD APOH
7	purpura	30.5	VWF THBD APOH
8	localized scleroderma	30.5	SNRNP70 FBN1 COL1A2 COL1A1
9	respiratory failure	30.4	VWF THBD SFTPD SERPINA3
10	pulmonary fibrosis	30.3	SFTPD ELN COL1A2 COL1A1 CD36
11	vascular disease	30.3	VWF THBD FBN1 ELN COL3A1 APOH
12	otosclerosis	30.2	COL1A2 COL1A1 CD36
13	transient cerebral ischemia	30.1	VWF SERPINA3 APOH
14	libman-sacks endocarditis	30.1	SNRNP70 APOH
15	larsen syndrome	30.1	COL2A1 CHST14 B4GALT7
16	aortic valve insufficiency	30.1	VWF FBN1 ELN
17	telangiectasis	30.0	SNRNP70 FBN1 ELN
18	glaucoma, primary open angle	30.0	SERPINA3 FBN1 ELN COL5A1
19	thrombotic thrombocytopenic purpura	30.0	VWF THBD CD36 APOH
20	thrombophilia due to thrombin defect	30.0	VWF THBD PLOD1 APOH
21	peripheral vascular disease	30.0	VWF THBD SERPINA3
22	thrombosis	30.0	VWF THBD SERPINA3 APOH
23	open-angle glaucoma	30.0	FBN1 ELN CD36
24	atherosclerosis susceptibility	30.0	VWF THBD ELN CD36
25	diffuse scleroderma	30.0	SNRNP70 COL1A1
26	aortitis	30.0	FBN1 ELN
27	spondyloepiphyseal dysplasia with congenital joint dislocations	30.0	COL2A1 CHST14 B4GALT7
28	varicose veins	29.9	VWF THBD FBN1 ELN COL3A1
29	intraocular pressure quantitative trait locus	29.9	SERPINA3 FBN1 ELN
30	connective tissue disease	29.8	COL3A1 COL2A1 COL1A2 COL1A1 CD36 APOH
31	distal arthrogryposis	29.8	PLOD1 FBN1 ELN COL1A2 COL1A1 CHST14
32	interstitial lung disease 2	29.7	SFTPD SERPINA3 ELN COL3A1 COL1A2 COL1A1
33	marfan syndrome	29.7	FBN1 ELN COL5A2 COL3A1 COL2A1 COL1A2
34	hypertension, essential	29.7	VWF THBD SERPINA3 FBN1 ELN COL3A1
35	lipoprotein quantitative trait locus	29.6	VWF THBD SERPINA3 FBN1 ELN
36	orthostatic intolerance	29.6	TNXB PLOD1 FBN1 ELN COL5A2 COL5A1
37	osteochondrodysplasia	29.2	SLC39A13 PLOD1 FBN1 ELN COL5A2 COL5A1
38	brittle bone disorder	29.0	TNXB SLC39A13 PLOD1 FBN1 ELN COL5A2
39	disseminated eosinophilic collagen disease	11.3
40	alpha-2-deficient collagen disease	11.2
41	pierre robin syndrome associated with collagen disease	11.2
42	hypereosinophilic syndrome	11.1
43	mixed connective tissue disease	11.0
44	temporal arteritis	10.9
45	eisenmenger syndrome	10.4	VWF THBD
46	ehlers-danlos/osteogenesis imperfecta syndrome	10.4	COL1A2 COL1A1
47	high bone mass osteogenesis imperfecta	10.4	COL1A2 COL1A1
48	thrombophilia	10.4	VWF THBD APOH
49	nonbacterial thrombotic endocarditis	10.4	VWF APOH
50	subclavian artery aneurysm	10.4	FBN1 ELN

Graphical network of the top 20 diseases related to Collagen Disease:

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Symptoms & Phenotypes for Collagen Disease

GenomeRNAi Phenotypes related to Collagen Disease according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	APOH B4GALT7 CD36 CHST14 COL1A1 COL1A2
2	no effect	GR00402-S-2	10.18	APOH B4GALT7 CD36 CHST14 COL1A1 COL1A2

MGI Mouse Phenotypes related to Collagen Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.21	APOH CD36 CHST14 COL1A1 COL1A2 COL2A1
2	growth/size/body region	MP:0005378	10.13	CD36 CHST14 COL1A1 COL1A2 COL2A1 COL3A1
3	cardiovascular system	MP:0005385	10.1	CD36 CHST14 COL1A1 COL1A2 COL2A1 COL3A1
4	mortality/aging	MP:0010768	9.86	APOH CD36 CHST14 COL1A1 COL1A2 COL2A1
5	respiratory system	MP:0005388	9.76	COL1A1 COL2A1 COL3A1 COL5A2 ELN FBN1
6	integument	MP:0010771	9.44	CD36 CHST14 COL1A1 COL1A2 COL3A1 COL5A1

Sources

Drugs & Therapeutics for Collagen Disease

Drugs for Collagen Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 135)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetaminophen

Approved

Phase 4

103-90-2

1983

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Methotrexate

Approved

Phase 4

1959-05-2, 59-05-2

4112 126941

Hydrocortisone succinate

Approved

Phase 4

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

3640 5754

Lactitol

Approved, Investigational

Phase 4

585-86-4

157355

Levoleucovorin

Approved, Experimental, Investigational

Phase 4

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Abatacept

Approved

Phase 4

332348-12-6

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Anti-Inflammatory Agents

Phase 4

Analgesics

Phase 4

Antipyretics

Phase 4

Analgesics, Non-Narcotic

Phase 4

Heptavalent Pneumococcal Conjugate Vaccine

Phase 4

Hydrocortisone 17-butyrate 21-propionate

Phase 4

Sodium Chloride Symporter Inhibitors

Phase 4

diuretics

Phase 4

Gentamicins

Phase 4

Folic Acid Antagonists

Phase 4

Folate

Phase 4

Vitamin B9

Phase 4

Vitamin B Complex

Phase 4

Antimetabolites

Phase 4

Dermatologic Agents

Phase 4

Antirheumatic Agents

Phase 4

Immunologic Factors

Phase 4

Pharmaceutical Solutions

Phase 4

Immune Checkpoint Inhibitors

Phase 4

Rivaroxaban

Approved

Phase 3

366789-02-8

9875401

Alendronic acid

Approved

Phase 3

121268-17-5, 66376-36-1

2088

Etanercept

Approved, Investigational

Phase 3

185243-69-0

Cyclobenzaprine

Approved

Phase 3

303-53-7

2895

Leuprolide

Approved, Investigational

Phase 3

53714-56-0

657181

Cyclophosphamide

Approved, Investigational

Phase 3

50-18-0, 6055-19-2

2907

Alfacalcidol

Approved, Nutraceutical

Phase 3

41294-56-8

5282181

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 3

67-97-0, 1406-16-2

5280795 10883523

Antineoplastic Agents, Immunological

Phase 2, Phase 3

Factor Xa Inhibitors

Phase 3

HIV Protease Inhibitors

Phase 3

Anticoagulants

Phase 3

Serine Proteinase Inhibitors

Phase 3

Antithrombins

Phase 3

Antithrombin III

Phase 3

protease inhibitors

Phase 3

Gastrointestinal Agents

Phase 3

Vitamins

Phase 3

Trace Elements

Phase 3

Calciferol

Phase 3

Hydroxycholecalciferols

Phase 3

Interventional clinical trials:

(show top 50) (show all 225)

#	Name	Status	NCT ID	Phase	Drugs
1	Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases	Unknown status	NCT01151644	Phase 4
2	Combined Pneumococcal Conjugate and Polysaccharide Vaccination in Inflammatory Rheumatic Disease. Impact of Antirheumatic Treatment on Antibody Response.	Completed	NCT03762824	Phase 4
3	Acetaminophen for Mood and Memory Changes Associated With Prednisone Therapy	Completed	NCT00377364	Phase 4	Drug: Acetaminophen, Drug: Placebo
4	Immunogenicity and Safety of Influenza A/H3N2 Vaccine in Patients With Rheumatologic Diseases	Completed	NCT03540823	Phase 4
5	Patient Self-administration of Cortisol for Cortisol-responding Disorders in Men and Women Over the Age of 17, Demonstration of Double-blind Trial Results	Completed	NCT03558971	Phase 4	Cortisol
6	A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon	Completed	NCT00208442	Phase 4
7	Prospective Cohort Study of the Influence of Age, Underlying Disease and Immunosuppression on Vaccine Responses to Influenza A H1N1/09 Immunization in High-risk Patients.	Completed	NCT01022905	Phase 4
8	A Prospective, Randomised, Uncontrolled, Single-Centre, Post-Market Surveillance Study To Evaluate The Performance Of SmartSet® HV and SmartSet® GHV Bone Cements In Primary Cemented Total Hip Arthroplasty(THA)	Completed	NCT00872066	Phase 4
9	Abatacept to Silence Anti-citrullinated Protein Antibody-expressing B Cells in Rheumatoid Arthritis (ASCARA).	Completed	NCT03492658	Phase 4	Abatacept;Methotrexate
10	The COvid19 VaccinE Response and Co-Administration in Rheumatology Patients (COVER-CoAd)	Recruiting	NCT05543642	Phase 4
11	EFFECTS OF ABATACEPT ON THE PROGRESSION TO RHEUMATOID ARTHRITIS IN PATIENTS WITH PALINDROMIC RHEUMATISM (PALABA)	Recruiting	NCT03669367	Phase 4	Abatacept Injection;hydroxycloroquina
12	Immunogenicity and Safety of the CoronaVac Vacccine in Patients With Autoimmune Rheumatic Diseases and People Living With HIV/AIDS	Active, not recruiting	NCT04754698	Phase 4
13	Safety and Immunogenicity of a Recombinant Subunit Herpes Zoster Vaccine in Patients With Rheumatic Diseases Undergoing Immunosuppressive or Biologic/Targeted DMARD Therapies: a Double-blind Randomized Placebo-controlled Trial	Not yet recruiting	NCT04748939	Phase 4
14	Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle™ Acetabular Cup Prosthesis With a Ceramic-on-ceramic Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement	Terminated	NCT00872222	Phase 4
15	Randomised, Controlled, Prospective, Multi-Centre, Post Market Surveillance Study Comparing a Ceramic-on-Metal Bearing and a Metal-on-Metal Bearing in Subjects Requiring Primary Total Hip Arthroplasty for Non-Inflammatory Degenerative Joint Disease	Terminated	NCT00873444	Phase 4
16	Prospective, Uncontrolled, Multi-Centre, Post-Marketing Surveillance Study to Evaluate the Long-Term Performance of Summit Tapered Hip in Cementless Total Hip Arthroplasty	Terminated	NCT00208390	Phase 4
17	Prospective Multi-Centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-Term Performance of the DePuy ASR Hip System in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty	Terminated	NCT00208377	Phase 4
18	Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup Prosthesis With a Metal on Metal Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement	Terminated	NCT00208364	Phase 4
19	Prospective Single-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of the DePuy ASR™ Hip in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty	Terminated	NCT00872794	Phase 4
20	Prospective, International Multi-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of a Large Metal-on-Metal (MoM) Bearing Comprising a DePuy ASR™ Cup in Conjunction With Either a DePuy ASR™ Hip Resurfacing Femoral Component or a DePuy ASR™ XL Head in Subjects With Indications Suitable for Either a Primary Resurfacing Arthroplasty or Primary Total Hip Arthroplasty	Terminated	NCT00872547	Phase 4
21	Prospective, Uncontrolled, Two-centre, RSA, Post-market Surveillance Study to Evaluate the Stability of the C-Stem™ AMT Femoral Component in Primary Total Hip Arthroplasty.	Terminated	NCT00872573	Phase 4
22	Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup System With a Metal on Enduron Polyethylene Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement	Withdrawn	NCT00208429	Phase 4
23	Double-Blind, Parallel-group Comparison, Investigators Initiated Phase II Clinical Trial of IDEC-C2B8 (Rituximab) in Patients With Systemic Sclerosis	Completed	NCT04274257	Phase 2, Phase 3	Double-Blind Placebo;Double-Blind Rituximab
24	Medically Ill Patient Assessment of Rivaroxaban Versus Placebo in Reducing Post-Discharge Venous Thrombo-Embolism Risk	Completed	NCT02111564	Phase 3	Rivaroxaban, 10 mg;Rivaroxaban, 7.5 mg;Placebo
25	Prevention of Glucocorticoid-Induced Osteoporosis in Patients With Rheumatic Diseases. The STOP-Study: a Randomized Placebo Controlled Trial With Alendronate Versus Alfacalcidol.	Completed	NCT00138983	Phase 3	Alendronate versus alfacalcidol (1-alpha OH vitamin D)
26	A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia	Completed	NCT02436096	Phase 3	TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
27	DOES ETANERCEPT INFLUENCE TWEAK MODULATION OF INFLAMMATION DURING INFLAMMATORY RHEUMATISMS (PSORIATIC ARTHRITIS AND RHEUMATOID ARTHRITIS)?	Completed	NCT02164214	Phase 3	etanercept Treatment
28	COvid-19 Vaccine Booster in Immunocompromised Rheumatic Diseases	Recruiting	NCT05236491	Phase 2, Phase 3
29	COVID-19 Vaccine in Immunosuppressed Adults With Autoimmune Diseases	Active, not recruiting	NCT04806113	Phase 3
30	Clinical and Radiographic Evaluation to Compare a Polished and Non-polished Collared Stem and a Polished and Non Polished Collarless Stem in Primary Total Hip Replacement	Terminated	NCT00208351	Phase 3
31	A Multi-centre, Randomised, Parallel Group, Controlled Study to Compare the Performance of the Future Hip Against Three Currently Used Implants in Total Hip Replacement	Terminated	NCT00208468	Phase 3
32	A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia	Terminated	NCT02829814	Phase 3	TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
33	GnRH-a for Ovarian Protection During CYC Therapy for Rheumatic Diseases	Terminated	NCT01257802	Phase 3	depot leuprolide acetate 3.75 mg;Placebo
34	Efficacy and Safety of Vaccination Against Influenza H1N1 in Patients With Rheumatoid Arthritis, Systemic Lupus Erythematosus, Psoriatic Arthritis and Ankylosing Spondylitis Treated With Immunomodulatory Drugs	Unknown status	NCT01006681	Phase 2
35	Intraarticular Application of Opioids Versus Glucocorticosteroids Versus Placebo in Rheumatoid Arthritis	Unknown status	NCT00244153	Phase 1, Phase 2	intraarticular morphine;intraarticular dexamethasone
36	Booster Vaccine Strategy to Improve Serologic Responses to Influenza Vaccination in Children With Rheumatic Diseases and Inflammatory Bowel Disease Who Are Receiving Immunosuppressive Therapies	Completed	NCT03277703	Phase 2
37	Immunogenicity and Efficacy of High-dose Trivalent Inactivated Seasonal Influenza Vaccine (Fluzone High Dose) in Immunocompromised Children and Young Adults.	Completed	NCT01685372	Phase 2
38	Improving Vocational Outcomes in Arthritis	Completed	NCT00000407	Phase 2
39	Systemic Sclerosis (SSc) Vasculopathy: Improved Clinical Monitoring and Treatment	Completed	NCT02530996	Phase 1, Phase 2	BH4;Placebo
40	Articular Cartilage Regeneration in Gonarthrosis Grade II and III by Articular Infiltration of Xcel-m-condro-alpha.	Completed	NCT01227694	Phase 1, Phase 2
41	A Randomized, Double-Blind, Placebo-Controlled, Titration-to-Effect Study of Orally Administered CR845 in Patients With Osteoarthritis of the Hip or Knee	Completed	NCT02944448	Phase 2	CR845 tablet 1 mg;CR845 tablet 2.5 mg;CR845 tablet 5 mg;Placebo tablet
42	A Phase 2b, Double-Blind, Placebo-Controlled Study to Evaluate Peresolimab in Adult Participants With Moderately-to-Severely Active Rheumatoid Arthritis	Recruiting	NCT05516758	Phase 2	Peresolimab;Placebo
43	A Phase 2a, Randomized, Double-Blind, Placebo-Controlled Trial of the Efficacy and Safety of LEVI-04 in Patients With Osteoarthritis of the Knee	Recruiting	NCT05618782	Phase 2	LEVI-04
44	Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study	Terminated	NCT02263638	Phase 2	Anakinra
45	An Ascending Single- and Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Subcutaneous Gimsilumab in Healthy Subjects and Subjects With Ankylosing Spondylitis	Completed	NCT04205851	Phase 1	KIN-1901;Placebo
46	Safety/Efficacy of Intra-articular Administration of Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis	Completed	NCT03337165	Phase 1
47	An Open, Dose Escalation, Single Dose Study to Assess Tolerance and Pharmacokinetics of T0001 in Healthy Adult Chinese Volunteers	Completed	NCT02291471	Phase 1	T0001，10mg;T0001，20mg;T0001，35mg;T0001，50mg;T0001，65mg;T0001，75mg
48	A Phase 1, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Single and Multiple Ascending Doses of VIB1116 in Conventional Dendritic Cell (cDC) and Plasmacytoid Dendritic Cell (pDC)-Mediated Rheumatic Diseases	Recruiting	NCT04948099	Phase 1	VIB1116;Placebo
49	Compliance of Traditional Chinese Medicine in Young Patients With Rheumatic Diseases	Unknown status	NCT02260323
50	Evaluation of the Usefulness of Interferon-γ Release Assays and Tuberculin Skin Test for Detection of Latent Mycobacterium Tuberculosis Infection in Korean Patients With Rheumatic Diseases	Unknown status	NCT01685905

Search NIH Clinical Center for Collagen Disease

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

prednisolone

prednisolone acetate

PREDNISOLONE ACETATE PWDR

PREDNISOLONE PWDR

Prednisolone sodium phosphate

prednisolone tebutate

Prednisone

PREDNISONE PWDR

Cochrane evidence based reviews: collagen diseases

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Genetic Tests for Collagen Disease

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Anatomical Context for Collagen Disease

Organs/tissues related to Collagen Disease:

MalaCards : Bone, Skin, Kidney, Lung, Bone Marrow, B Cells, Neutrophil

Sources

Publications for Collagen Disease

Articles related to Collagen Disease:

(show top 50) (show all 2840)

#	Title	Authors	PMID	Year
1	Czech dysplasia metatarsal type: another type II collagen disorder. ⁵³ ⁶²	Hoornaert KP...Mortier GR	17726487	2007
2	Stability junction at a common mutation site in the collagenous domain of the mannose binding lectin. ⁵³ ⁶²	Mohs A...Brodsky B	15697204	2005
3	[Clinical significance of cytokine and cytokine receptor analysis in collagen diseases]. ⁵³ ⁶²	Tanaka Y	14621587	2003
4	[Contribution of Japanese researchers to progress in the study of allergy and collagen disease in the last 100 years: Cytokines and cytokine receptors]. ⁵³ ⁶²	Yoshizaki K...Okuhata S	12373883	2002
5	Changes in plasma serotonin concentration and acceleration plethysmograms in patients with Raynaud's phenomenon after long-term treatment with a 5-HT2 receptor antagonist. ⁵³ ⁶²	Igarashi M...Koga M	11092268	2000
6	Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. ⁵³ ⁶²	Mortier GR...Cohn DH	10745044	2000
7	Increase in plasma thrombomodulin level in patients with vibration syndrome. ⁵³ ⁶²	Kanazuka M...Saito S	8731509	1996
8	Pulmonary surfactant protein D in sera and bronchoalveolar lavage fluids. ⁵³ ⁶²	Honda Y...Abe S	8520747	1995
9	[Evaluation of serum thrombomodulin in patients with interstitial pneumonia]. ⁵³ ⁶²	Yokoyama A...Hiwada K	7844912	1994
10	[Detection of anticardiolipin antibody using the EIA kit prepared to eliminate interference of serum cofactor]. ⁵³ ⁶²	Nagano Y...Ohkubo A	8371506	1993
11	Addition of serum from patients with collagen diseases increases to cultured human endothelial cells production and release of von Willebrand factor. ⁵³ ⁶²	Kagawa H...Yasunaga K	8438904	1993
12	Circulating thrombomodulin as a novel endothelial cell marker: comparison of its behavior with von Willebrand factor and tissue-type plasminogen activator. ⁵³ ⁶²	Takahashi H...Shibata A	1323930	1992
13	Plasma coagulation and fibrinolysis parameters in patients with collagen diseases, and analysis of the multimeric structure of von Willebrand factor (vWF). ⁵³ ⁶²	Kagawa H...Yasunaga K	1756253	1991
14	Development of a Non-Invasive Local Heating Load Test to Detect Severe Limb Ischemia Within 200 seconds. ⁶²	Katsui S...Kudo T	35968758	2023
15	New Findings in Early-Stage Keratoconus: Lamina Cribrosa Curvature, Retinal Nerve Fiber Layer Thickness, and Vascular Perfusion. ⁶²	Pierro L...Bandello F	36323392	2022
16	Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage. ⁶²	Sandy JL...Munns CF	36282022	2022
17	A Case of Immunoglobulin G4-Related Scleritis and Pneumonia Initially Diagnosed as Eosinophilic Pneumonia. ⁶²	Fukushima A...Tabuchi H	36320984	2022
18	Pseudobullous pilomatricoma: A rare variant of pilomatricoma. ⁶²	Lee TC...Lu GQ	36092264	2022
19	Immunoglobulin G4-related solitary aneurysm of the deep femoral artery. ⁶²	Matsumoto Y...Kasashima F	35898572	2022
20	Risk factors for arm lymphedema following breast cancer surgery: a Japanese nationwide database study of 84,022 patients. ⁶²	Konishi T...Yasunaga H	35997891	2022
21	Fatigue crack propagation and fracture toughness of cortical bone are radiation dose-dependent. ⁶²	Crocker DB...Rimnac CM	35949192	2022
22	Descriptive Epidemiology of a Surgical Patellofemoral Instability Population of 492 Patients. ⁶²	Zheng ET...Heyworth BE	35859643	2022
23	Hydrogen-rich bath with nano-sized bubbles improves antioxidant capacity based on oxygen radical absorbing and inflammation levels in human serum. ⁶²	Tanaka Y...Miwa N	34854419	2022
24	Multiple cardiac complications associated with collagen disease. ⁶²	Suzuki M...Hirata KI	33215326	2022
25	Are there avoidable causes of early revision total knee arthroplasty? ⁶²	Roof MA...Aggarwal VK	35717341	2022
26	A One-Year-Old Girl With Human Parvovirus B19 Infection and Hypocomplementemia Mimicking Incomplete Kawasaki Disease. ⁶²	Oura K...Sato T	35655625	2022
27	Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports. ⁶²	Colman M...Malfait F	35587586	2022
28	Clinical Importance of Body Composition in Improving Bone Mineral Density of Femoral Neck After Denosumab Therapy in Patients With Rheumatoid Arthritis or Collagen Diseases. ⁶²	Nakano M...Hagihara K	35478104	2022
29	The compound LG283 inhibits bleomycin-induced skin fibrosis via antagonizing TGF-β signaling. ⁶²	Utsunomiya A...Hasegawa M	35488265	2022
30	Congenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study. ⁶²	Chang HH...Chen JH	35149748	2022
31	Increased soluble programed cell death-ligand 1 is associated with acute coronary syndrome. ⁶²	Fujisue K...Tsujita K	34843822	2022
32	Clinical characteristics and prognosis of immunosuppressed inpatients with COVID-19 in Japan. ⁶²	Nomoto H...Ohmagari N	34776348	2022
33	[DIAGNOSIS AND TREATMENT OF COLLAGEN DISEASES OTHER THAN RHEUMATOID ARTHRITIS]. ⁶²	Hirohata S	35569936	2022
34	[CUTANEOUS MANIFESTATIONS OF COLLAGEN DISEASE MIMICKING WITH ALLERGIC DISEASE]. ⁶²	Arai S	35691895	2022
35	Comorbidities as Risk Factors for Severe Disease in Hospitalized Elderly COVID-19 Patients by Different Age-Groups in Japan. ⁶²	Asai Y...Ohmagari N	34999588	2022
36	Masked hypertension and neonatal outcome in high-risk pregnancies. ⁶²	Salazar MR...Carbajal HA	35034090	2022
37	[A CASE OF SUMMER-TYPE HYPERSENSITIVITY PNEUMONITIS DURING IMMUNOSUPPRESSIVE TREATMENT FOR SYSTEMIC SCLEROSIS]. ⁶²	Oshita H...Hattori N	35173124	2022
38	Idiopathic Pulmonary Fibrosis Complicated by Adenocarcinoma and Organizing Pneumonia. ⁶²	Inutsuka Y...Maeyama T	35004080	2022
39	Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family. ⁶²	Hu Y...Xiong F	35422838	2022
40	A case of anterior scleritis in association with posterior scleritis - a diagnostic riddle. ⁶²	Dastidar AG...Sharma P	35291584	2022
41	Hand-Assisted Laparoscopic Subtotal Colectomy for Ogilvie Syndrome Associated With Idiopathic Fibrosis of Colon After Simultaneous Pancreas Kidney Transplant. ⁶²	Nakamura T...Yoshikawa M	34775940	2021
42	Gastrointestinal AA amyloidosis secondary to chronic pyelonephritis presenting with refractory diarrhea and severe hypoalbuminemia. ⁶²	Tanaka T...Nakamoto Y	34468921	2021
43	Widespread Necrotizing Purpura and Lucio Phenomenon as the First Diagnostic Presentation of Diffuse Nonnodular Lepromatous Leprosy. ⁶²	Shahin A...Abdel-Halim MRE	35167793	2021
44	The Japanese Society for Apheresis clinical practice guideline for therapeutic apheresis. ⁶²	Abe T...Yamaji K	34877777	2021
45	Modified Halsted's operation for inguinal hernia repair: A new technique. ⁶²	Alomar OSK	34712482	2021
46	Severity of Dementia Is Associated with Increased Periodontal Inflamed Surface Area: Home Visit Survey of People with Cognitive Decline Living in the Community. ⁶²	Edahiro A...Awata S	34831719	2021
47	Virus-triggered secondary hemophagocytic lymphohistiocytosis. ⁶²	Imashuku S...Ishii E	34096649	2021
48	Evaluation of sweating responses in patients with collagen disease using the quantitative sudomotor axon reflex test (QSART): a study protocol for an investigator-initiated, prospective, observational clinical study. ⁶²	Ashida M...Murota H	34706954	2021
49	Psychogenic fever due to worry about COVID-19: A case report. ⁶²	Imataki O...Uemura M	34429986	2021
50	COVID-19 pandemic highlighted the importance of telemedicine in the collagen disease of systemic sclerosis. ⁶²	Norimatsu Y...Sato S	33200739	2021

Sources

Genes for Collagen Disease

Genes related to Collagen Disease (0 elite genes):

(show all 41)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	12.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17118335
2	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	12.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10745044 17726487
3	APOH	Apolipoprotein H	Protein Coding	11.98	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8371506 19432826
4	THBD	Thrombomodulin	Protein Coding	10.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1323930 7844912 8731509
5	SFTPD	Surfactant Protein D	Protein Coding	10.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8520747
6	ELN	Elastin	Protein Coding	10.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8043384
7	VWF	Von Willebrand Factor	Protein Coding	9.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8438904 1756253 1323930
8	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	8.79	DISEASES inferred ¹⁴
9	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	8.38	DISEASES inferred ¹⁴
10	SNRNP70	Small Nuclear Ribonucleoprotein U1 Subunit 70	Protein Coding	8.2	DISEASES inferred ¹⁴
11	SERPINA3	Serpin Family A Member 3	Protein Coding	8.12	DISEASES inferred ¹⁴ ¹⁴
12	TNXB	Tenascin XB	Protein Coding	8.05	DISEASES inferred ¹⁴
13	CD36	CD36 Molecule	Protein Coding	8.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17118335 1563395
14	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	7.91	DISEASES inferred ¹⁴
15	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	7.88	DISEASES inferred ¹⁴
16	FBN1	Fibrillin 1	Protein Coding	7.84	DISEASES inferred ¹⁴
17	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	7.79	DISEASES inferred ¹⁴
18	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	7.79	DISEASES inferred ¹⁴
19	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	7.74	DISEASES inferred ¹⁴
20	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	7.66	DISEASES inferred ¹⁴
21	CRP	C-Reactive Protein	Protein Coding	7.56	DISEASES inferred ¹⁴
22	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	7.46	DISEASES inferred ¹⁴
23	FKBP14	FKBP Prolyl Isomerase 14	Protein Coding	7.32	DISEASES inferred ¹⁴
24	MBL2	Mannose Binding Lectin 2	Protein Coding	7.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15697204
25	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	7.09	DISEASES inferred ¹⁴
26	H2AC18	H2A Clustered Histone 18	Protein Coding	7.02	DISEASES inferred ¹⁴ ¹⁴
27	DCN	Decorin	Protein Coding	6.99	DISEASES inferred ¹⁴
28	TRIM21	Tripartite Motif Containing 21	Protein Coding	6.98	DISEASES inferred ¹⁴
29	ZNF469	Zinc Finger Protein 469	Protein Coding	6.87	DISEASES inferred ¹⁴
30	ADAMTS4	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4	Protein Coding	6.86	DISEASES inferred ¹⁴
31	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	6.75	DISEASES inferred ¹⁴ ¹⁴
32	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	6.74	DISEASES inferred ¹⁴
33	PRTN3	Proteinase 3	Protein Coding	6.72	DISEASES inferred ¹⁴
34	DSE	Dermatan Sulfate Epimerase	Protein Coding	6.67	DISEASES inferred ¹⁴
35	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	6.66	DISEASES inferred ¹⁴
36	BGN	Biglycan	Protein Coding	6.62	DISEASES inferred ¹⁴
37	IL6	Interleukin 6	Protein Coding	6.61	DISEASES inferred ¹⁴
38	EXOSC10	Exosome Component 10	Protein Coding	6.58	DISEASES inferred ¹⁴
39	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	6.57	DISEASES inferred ¹⁴
40	CFHR2	Complement Factor H Related 2	Protein Coding	6.52	DISEASES inferred ¹⁴ ¹⁴
41	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	6.51	DISEASES inferred ¹⁴

Sources

Variations for Collagen Disease

Sources

Expression for Collagen Disease

Search GEO for disease gene expression data for Collagen Disease.

Sources

Pathways for Collagen Disease

Pathways related to Collagen Disease according to GeneCards Suite gene sharing:

(show all 29)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.35	FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
2	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.24	VWF THBD SERPINA3 COL1A2 COL1A1 CD36
3	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	13.02	FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
4	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.92	COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
5	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.81	COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
6	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.74	THBD PLOD1 COL5A2 COL5A1 COL3A1 COL2A1
7	MET promotes cell motility ⁶⁶ Show member pathways Beta1 integrin cell surface interactions ⁶¹ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.35	FBN1 COL5A2 COL5A1 COL3A1 COL2A1 COL1A2
8	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.34	VWF TNXB PLOD1 FBN1 ELN COL5A2
9	Focal adhesion ⁷⁴	12.27	VWF TNXB COL5A2 COL2A1 COL1A2 COL1A1
10	Non-integrin membrane-ECM interactions ⁶⁶ Show member pathways Alpha6 beta4 integrin-ligand interactions ⁶¹ Cell adhesion Endothelial cell contacts by non-junctional mechanisms ²² Laminin interactions ⁶⁶ Syndecan interactions ⁶⁶	12.16	COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
11	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	12.06	SFTPD COL3A1 COL2A1 COL1A2 COL1A1
12	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.92	COL5A2 COL5A1 COL3A1 COL2A1
13	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.85	COL3A1 COL1A2 COL1A1 CD36
14	Signaling by PDGF ⁶⁶ Show member pathways Downstream signal transduction ⁶⁶	11.82	COL2A1 COL3A1 COL5A1 COL5A2
15	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	11.8	VWF COL1A2 COL1A1
16	Burn wound healing ⁷⁴	11.74	FBN1 ELN COL1A2 COL1A1
17	Cell adhesion_ECM remodeling ²²	11.63	COL3A1 COL2A1 COL1A2 COL1A1
18	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	11.5	VWF TNXB FBN1 COL5A2 COL5A1 COL3A1
19	Integrins in angiogenesis ⁶¹	11.49	COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
20	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.47	CD36 COL1A1 COL1A2 COL3A1 VWF
21	Beta3 integrin cell surface interactions ⁶¹	11.4	FBN1 COL1A2 COL1A1
22	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	11.32	PLOD1 COL1A2 COL1A1
23	Inflammatory response pathway ⁷⁴	11.31	COL3A1 COL1A2 COL1A1
24	miRNA targets in ECM and membrane receptors ⁷⁴	11.3	TNXB COL5A2 COL5A1 COL3A1 COL1A2
25	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	11.21	VWF COL1A2 COL1A1
26	Syndecan-1-mediated signaling events ⁶¹	11.11	COL5A2 COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
27	miR-509-3p alteration of YAP1/ECM axis ⁷⁴	10.98	COL5A1 COL3A1 COL1A1
28	G-protein signaling_Rap2B regulation pathway ²²	10.98	FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
29	Proteoglycan biosynthesis ⁷⁴	10.9	CHST14 B4GALT7

Sources

GO Terms for Collagen Disease

Cellular components related to Collagen Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	10.52	APOH COL1A1 COL1A2 COL2A1 COL3A1 COL5A1
2	extracellular space	GO:0005615	10.4	APOH CD36 COL1A1 COL1A2 COL2A1 COL3A1
3	endoplasmic reticulum lumen	GO:0005788	10.21	COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
4	extracellular matrix	GO:0031012	10.16	VWF TNXB FBN1 ELN COL5A2 COL5A1
5	collagen type XI trimer	GO:0005592	9.8	COL5A2 COL5A1 COL2A1
6	collagen type V trimer	GO:0005588	9.76	COL5A2 COL5A1
7	collagen type I trimer	GO:0005584	9.73	COL1A2 COL1A1
8	collagen-containing extracellular matrix	GO:0062023	9.7	VWF TNXB SERPINA3 FBN1 ELN COL5A2
9	collagen trimer	GO:0005581	9.65	CD36 COL1A1 COL1A2 COL2A1 COL3A1 COL5A1

Biological processes related to Collagen Disease according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	10.07	FBN1 COL5A2 COL2A1 COL1A2 COL1A1
2	cellular response to amino acid stimulus	GO:0071230	10.01	COL5A2 COL3A1 COL1A2 COL1A1
3	collagen biosynthetic process	GO:0032964	9.84	COL5A1 COL1A1
4	proteoglycan metabolic process	GO:0006029	9.83	COL2A1 B4GALT7
5	extracellular matrix organization	GO:0030198	9.83	COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
6	cartilage development involved in endochondral bone morphogenesis	GO:0060351	9.81	COL2A1 COL1A1
7	eye morphogenesis	GO:0048592	9.8	COL5A2 COL5A1
8	supramolecular fiber organization	GO:0097435	9.8	B4GALT7 COL3A1 COL5A1
9	blood vessel development	GO:0001568	9.8	COL5A1 COL3A1 COL1A2 COL1A1
10	triglyceride transport	GO:0034197	9.78	CD36 APOH
11	negative regulation of endodermal cell differentiation	GO:1903225	9.76	COL5A2 COL5A1
12	skin development	GO:0043588	9.76	COL5A2 COL5A1 COL3A1 COL1A1
13	anatomical structure development	GO:0048856	9.73	COL1A1 COL2A1 COL3A1 COL5A2
14	collagen fibril organization	GO:0030199	9.47	TNXB COL5A2 COL5A1 COL3A1 COL2A1 COL1A2

Molecular functions related to Collagen Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heparin binding	GO:0008201	10.03	TNXB FBN1 COL5A1 APOH
2	integrin binding	GO:0005178	9.96	VWF TNXB FBN1 COL5A1 COL3A1
3	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.93	COL1A1 COL1A2 COL2A1 COL3A1 COL5A1 COL5A2
4	protease binding	GO:0002020	9.92	COL1A1 COL1A2 COL3A1 VWF
5	SMAD binding	GO:0046332	9.85	COL5A2 COL3A1 COL1A2
6	extracellular matrix constituent conferring elasticity	GO:0030023	9.71	FBN1 ELN
7	platelet-derived growth factor binding	GO:0048407	9.65	COL5A1 COL3A1 COL2A1 COL1A2 COL1A1
8	extracellular matrix structural constituent	GO:0005201	9.62	VWF TNXB FBN1 ELN COL5A2 COL5A1