MCID: CLL015
MIFTS: 47

Collagen Disease

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Collagen Disease

MalaCards integrated aliases for Collagen Disease:

Name: Collagen Disease 12 15
Collagen Diseases 54 43 71
Collagen Disorder 12 74

Classifications:



External Ids:

Disease Ontology 12 DOID:854
MeSH 43 D003095
NCIt 49 C27204
SNOMED-CT 67 81573002
UMLS 71 C0009326

Summaries for Collagen Disease

Disease Ontology : 12 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 scleroderma, familial progressive and ehlers-danlos syndrome. 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 Phospholipase-C Pathway. The drugs Prednisone and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are cardiovascular system and integument

Wikipedia : 74 A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as... more...

Related Diseases for Collagen Disease

Diseases in the Collagen Disease family:

Collagen Type Vi-Related Disorders Type Ii Collagen Disorders

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

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 31.4 FBN1 COL1A1
2 ehlers-danlos syndrome 31.4 ZNF469 TNXB SLC39A13 PLOD1 FBN1 ELN
3 vasculitis 31.2 VWF THBD SERPINA3 APOH
4 systemic scleroderma 31.2 SNRNP70 SFTPD FBN1 ELN
5 raynaud phenomenon 31.1 VWF THBD APOH
6 antiphospholipid syndrome 30.8 VWF THBD APOH
7 purpura 30.7 VWF THBD APOH
8 hypermobile ehlers-danlos syndrome 30.4 TNXB PLOD1 FBN1 COL1A1
9 thrombotic thrombocytopenic purpura 30.3 VWF THBD APOH
10 mitral valve insufficiency 30.3 NPPA FBN1 ELN
11 blood coagulation disease 30.3 VWF THBD SERPINA3 APOH
12 thrombosis 30.1 VWF THBD SERPINA3 APOH
13 osteogenesis imperfecta, type ii 30.1 COL5A2 COL5A1 COL1A1
14 respiratory failure 30.1 THBD SFTPD SERPINA3 NPPA
15 thrombophilia due to thrombin defect 30.1 THBD PLOD1 APOH
16 telangiectasis 30.1 SNRNP70 FBN1 ELN
17 ehlers-danlos syndrome, classic type, 1 30.0 COL5A2 COL5A1 COL3A1 COL1A1
18 diffuse scleroderma 30.0 SNRNP70 COL1A1
19 hypermobility syndrome 30.0 TNXB FBN1 COL5A2 COL5A1 COL3A1
20 stickler syndrome 30.0 FBN1 COL5A2 COL2A1 COL1A1
21 pulmonary fibrosis, idiopathic 29.9 THBD SFTPD ELN COL3A1 COL1A1
22 glaucoma, primary open angle 29.9 ZNF469 SERPINA3 FBN1 ELN
23 connective tissue disease 29.8 TNXB SNRNP70 SFTPD SERPINA3 PLOD1 FBN1
24 intraocular pressure quantitative trait locus 29.7 SERPINA3 FBN1 ELN
25 marfan syndrome 29.5 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
26 orthostatic intolerance 29.3 TNXB PLOD1 FBN1 ELN COL5A2 COL5A1
27 odontochondrodysplasia 29.2 PLOD1 FBN1 ELN COL5A2 COL5A1 COL3A1
28 brittle bone disorder 29.1 ZNF469 PLOD1 FBN1 ELN COL5A2 COL5A1
29 disseminated eosinophilic collagen disease 12.4
30 type ii collagen disorders 12.4
31 alpha-2-deficient collagen disease 12.2
32 pierre robin syndrome associated with collagen disease 12.2
33 hypereosinophilic syndrome 11.5
34 mixed connective tissue disease 11.3
35 bone fragility with contractures, arterial rupture, and deafness 11.1
36 collagenopathy, types ii and xi 11.0
37 unilateral absence of a pulmonary artery 10.7 VWF THBD
38 late-onset focal dermal elastosis 10.6 FBN1 ELN
39 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.6 FBN1 ELN
40 blepharochalasis 10.6 SERPINA3 ELN
41 platelet aggregation, spontaneous 10.6 VWF SERPINA3
42 marantic endocarditis 10.6 VWF APOH
43 ehlers-danlos syndrome, vascular type 10.6 ELN COL3A1
44 chronic actinic dermatitis 10.6 FBN1 ELN
45 legg-calve-perthes disease 10.6 THBD COL2A1 APOH
46 tibialis tendinitis 10.6 TNXB COL5A2
47 thrombophilia due to activated protein c resistance 10.6 VWF THBD APOH
48 synovial chondromatosis 10.6 COL2A1 COL1A1
49 malignant hypertension 10.6 VWF THBD NPPA
50 mid-dermal elastolysis 10.6 FBN1 ELN

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



Diseases related to Collagen Disease

Symptoms & Phenotypes for Collagen Disease

MGI Mouse Phenotypes related to Collagen Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.9 COL1A1 COL2A1 COL3A1 COL5A1 COL5A2 FBN1
2 integument MP:0010771 9.65 COL1A1 COL3A1 COL5A1 COL5A2 FBN1 PLOD1
3 respiratory system MP:0005388 9.17 COL1A1 COL2A1 COL3A1 COL5A2 FBN1 SFTPD

Drugs & Therapeutics for Collagen Disease

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

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Acetaminophen Approved Phase 4 103-90-2 1983
6
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
7
leucovorin Approved Phase 4 58-05-9 6006 143
8
Abatacept Approved Phase 4 332348-12-6 10237
9
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
10
Ribavirin Approved Phase 4 36791-04-5 37542
11
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
12 Vaccines Phase 4
13 Analgesics, Non-Narcotic Phase 4
14 Analgesics Phase 4
15 Gentamicins Phase 4
16 Hydrocortisone 17-butyrate 21-propionate Phase 4
17 Hydrocortisone hemisuccinate Phase 4
18 Antipyretics Phase 4
19 Vitamin B Complex Phase 4
20 Folic Acid Antagonists Phase 4
21 Dermatologic Agents Phase 4
22 Folate Phase 4
23 Vitamin B9 Phase 4
24 Immunoglobulins Phase 4
25 Antibodies Phase 4
26 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
27 Pharmaceutical Solutions Phase 4
28 Immunologic Factors Phase 4
29 Antimetabolites Phase 4
30 Anti-Infective Agents Phase 4
31 Antiviral Agents Phase 4
32 interferons Phase 4
33 Interferon-alpha Phase 4
34 Interferon alpha-2 Phase 4
35
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
36
Etanercept Approved, Investigational Phase 3 185243-69-0
37
Rivaroxaban Approved Phase 3 366789-02-8
38
Cyclobenzaprine Approved Phase 3 303-53-7 2895
39
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181 3911
40
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
41
Alfacalcidol Approved, Nutraceutical Phase 3 41294-56-8 5282181
42
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3
44 Antineoplastic Agents, Immunological Phase 2, Phase 3
45 Trace Elements Phase 3
46 Vitamins Phase 3
47 Hydroxycholecalciferols Phase 3
48 Nutrients Phase 3
49 Micronutrients Phase 3
50 Calciferol Phase 3

Interventional clinical trials:

(show top 50) (show all 162)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 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
3 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
4 A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon Completed NCT00208442 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 Acetaminophen for Mood and Memory Changes Associated With Prednisone Therapy Completed NCT00377364 Phase 4 Drug: Acetaminophen, Drug: Placebo
7 Abatacept to Silence Anti-citrullinated Protein Antibody-expressing B Cells in Rheumatoid Arthritis (ASCARA). Recruiting NCT03492658 Phase 4 Abatacept;Methotrexate
8 Combined Pneumococcal Conjugate and Polysaccharide Vaccination in Inflammatory Rheumatic Disease. Impact of Antirheumatic Treatment on Antibody Response. Active, not recruiting NCT03762824 Phase 4
9 EFFECTS OF ABATACEPT ON THE PROGRESSION TO RHEUMATOID ARTHRITIS IN PATIENTS WITH PALINDROMIC RHEUMATISM (PALABA) Not yet recruiting NCT03669367 Phase 4 Abatacept Injection;hydroxycloroquina
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 Double Filtration Plasmapheresis (DFPP) in Combination With Pegylated Interferon Alfa-2a and Ribavirin for Patients With Chronic Hepatitis C With Genotype 1 and High Viral Load: a Randomized Controlled Trial Terminated NCT00977054 Phase 4 DFPP + Peg-IFN + RBV;Peg-IFN + RBV
19 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
20 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
21 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
22 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)
23 Prospective Trial Comparing the Use of Conventional Electric Scalpel and Harmonic Scalpel in Mastectomy Completed NCT01391988 Phase 3
24 DOES ETANERCEPT INFLUENCE TWEAK MODULATION OF INFLAMMATION DURING INFLAMMATORY RHEUMATISMS (PSORIATIC ARTHRITIS AND RHEUMATOID ARTHRITIS)? Completed NCT02164214 Phase 3 etanercept Treatment
25 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
26 Photobiomodulation for Breast Cancer Radiodermatitis Prevention. A Randomized Controlled Trial. Recruiting NCT04059809 Phase 2, Phase 3
27 GnRH-a for Ovarian Protection During CYC Therapy for Rheumatic Diseases Terminated NCT01257802 Phase 3 depot leuprolide acetate 3.75 mg;Placebo
28 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
29 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
30 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
31 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
32 Intraarticular Application of Opioids Versus Glucocorticosteroids Versus Placebo in Rheumatoid Arthritis Unknown status NCT00244153 Phase 1, Phase 2 intraarticular morphine;intraarticular dexamethasone
33 Immunogenicity and Efficacy of High-dose Trivalent Inactivated Seasonal Influenza Vaccine (Fluzone High Dose) in Immunocompromised Children and Young Adults. Completed NCT01685372 Phase 2
34 Articular Cartilage Regeneration in Gonarthrosis Grade II and III by Articular Infiltration of Xcel-m-condro-alpha. Completed NCT01227694 Phase 1, Phase 2
35 Improving Vocational Outcomes in Arthritis Completed NCT00000407 Phase 2
36 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
37 Booster Vaccine Strategy to Improve Serologic Responses to Influenza Vaccination in Children With Rheumatic Diseases and Inflammatory Bowel Disease Who Are Receiving Immunosuppressive Therapies Recruiting NCT03277703 Phase 2
38 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
39 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
40 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
41 Safety/Efficacy of Intra-articular Administration of Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis Completed NCT03337165 Phase 1
42 Pilot Study Characterizing Aerobic Exercise in Women With Systemic Lupus Erythematosus (Exercise SLE Pilot) Recruiting NCT03186794 Phase 1
43 The Effect of Puerarin Tablets in Treating Metabolism Syndrome in Patients With Chronic Rheumatic Diseases Unknown status NCT02219191 puerarin tablet 50 mg;Atorvastatin tablet 20 mg
44 Health Related Quality of Life After a Self-promoting Problem-based Learning Program for People With Rheumatic Diseases: a Randomized Controlled Trial Unknown status NCT00803491
45 Local Analgesia in Knee- and Hipatroplastic Surgery in Patients With Rheumatic Disease: Extra- vs. Intracapsulare Position of Catheter Unknown status NCT01050738
46 41.8 Degree Centigrade Whole Body Hyperthermia for the Treatment of Rheumatoid Diseases Unknown status NCT00000106
47 Identification of Epigenetic Biomarkers for Early Detection of Rheumatic Disease Unknown status NCT02742337
48 Prediction of Methotrexate Response - A Pilot Study Unknown status NCT01726959
49 Nurse-led Clinic for Patients With Rheumatic Diseases and Biological Treatment:a Randomized Controlled Trial Comparing Nurse-led Clinic Versus Rheumatologist Clinic Unknown status NCT01071447
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

Genetic Tests for Collagen Disease

Anatomical Context for Collagen Disease

MalaCards organs/tissues related to Collagen Disease:

40
Bone, Skin, Testes, Lung, Kidney, Liver, Neutrophil

Publications for Collagen Disease

Articles related to Collagen Disease:

(show top 50) (show all 2672)
# Title Authors PMID Year
1
Stability junction at a common mutation site in the collagenous domain of the mannose binding lectin. 61 54
15697204 2005
2
[Clinical significance of cytokine and cytokine receptor analysis in collagen diseases]. 54 61
14621587 2003
3
[Contribution of Japanese researchers to progress in the study of allergy and collagen disease in the last 100 years: Cytokines and cytokine receptors]. 54 61
12373883 2002
4
Changes in plasma serotonin concentration and acceleration plethysmograms in patients with Raynaud's phenomenon after long-term treatment with a 5-HT2 receptor antagonist. 54 61
11092268 2000
5
Increase in plasma thrombomodulin level in patients with vibration syndrome. 61 54
8731509 1996
6
Pulmonary surfactant protein D in sera and bronchoalveolar lavage fluids. 54 61
8520747 1995
7
[Evaluation of serum thrombomodulin in patients with interstitial pneumonia]. 54 61
7844912 1994
8
[Detection of anticardiolipin antibody using the EIA kit prepared to eliminate interference of serum cofactor]. 61 54
8371506 1993
9
Addition of serum from patients with collagen diseases increases to cultured human endothelial cells production and release of von Willebrand factor. 54 61
8438904 1993
10
Circulating thrombomodulin as a novel endothelial cell marker: comparison of its behavior with von Willebrand factor and tissue-type plasminogen activator. 54 61
1323930 1992
11
Plasma coagulation and fibrinolysis parameters in patients with collagen diseases, and analysis of the multimeric structure of von Willebrand factor (vWF). 54 61
1756253 1991
12
Chloroquine in controlling biological infections. 61
32564047 2020
13
A graphene oxide-aided triple helical aggregation-induced emission biosensor for highly specific detection of charged collagen peptides. 61
32568343 2020
14
Diagnostic markers for community-acquired pneumonia. 61
32566635 2020
15
Glomerular filtration and podocyte tensional homeostasis: importance of the minor type IV collagen network. 61
32462439 2020
16
Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report. 61
32471395 2020
17
Increased CD27 expression in the skins and sera of patients with systemic sclerosis. 61
32494557 2020
18
Lower Activity and Function Scores Are Associated with a Higher Risk of Preoperative Deep Venous Thrombosis in Patients Undergoing Total Hip Arthroplasty. 61
32357497 2020
19
Retinal vascular inflammatory and occlusive changes in infectious and non-infectious uveitis. 61
32016664 2020
20
Impact of Therapeutic Angiogenesis Using Autologous Bone Marrow-derived Mononuclear Cell Implantation in Patients with No-option Critical Limb Ischemia. 61
32273917 2020
21
Takotsubo cardiomyopathy complicated by cardiac tamponade due to non-hemorrhagic pericardial effusion: a case report. 61
32028901 2020
22
Case report: vertebral osteomyelitis secondary to a dental abscess. 61
32050917 2020
23
A case of imatinib-related obstructive bronchiolitis followed long term. 61
32300523 2020
24
Magnetic resonance imaging of intraocular optic nerve disorders: review article. 61
32467740 2020
25
[AN ADULT CASE OF PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS, AND ADENITIS (PFAPA) SYNDROME DEVELOPED IN CHILDHOOD AND DIAGNOSED AFTER PROGRESS MORE THAN 30 YEARS]. 61
32051370 2020
26
Characteristics of shared decision making in Romania from the patient perspective: A cross-sectional multicentric study. 61
31407420 2019
27
Characteristics and Risk Factors Associated With Diagnosed and Undiagnosed Symptomatic Dry Eye Using a Smartphone Application. 61
31774457 2019
28
Clinical manifestations of skin, lung and muscle diseases in dermatomyositis positive for anti-aminoacyl tRNA synthetase antibodies. 61
31418479 2019
29
Posterior reversible encephalopathy syndrome: A review with emphasis on neuroimaging characteristics. 61
31349066 2019
30
Uterine cervical ulceration caused by group C streptococcal infection during pregnancy: A case report. 61
31074169 2019
31
A case of spontaneous coronary artery dissection with early de novo recurrence. 61
31320943 2019
32
Romanian version of SDM-Q-9 validation in Internal Medicine and Cardiology setting: a multicentric cross-sectional study. 61
30721145 2019
33
Rheumatoid arthritis-like active synovitis with T-cell activation in a case of idiopathic multicentric Castleman disease: A case report. 61
31045763 2019
34
Chronic intestinal pseudo-obstruction with pneumatosis cystoides intestinalis in a patient with systemic sclerosis: A case report. 61
31045831 2019
35
Open staged repair of splenic and extensive superior mesenteric artery aneurysms. 61
30292603 2019
36
Delayed diagnosis of postcardiac injury syndrome. 61
30824470 2019
37
Impact of Therapeutic Angiogenesis Using Autologous Bone Marrow-Derived Mononuclear Cells Implantation in Critical Limb Ischemia With Scleroderma - Subanalysis of the Long-Term Clinical Outcomes Survey. 61
30726805 2019
38
High Mobility Group Box-1 (HMGB1): A Potential Target in Therapeutics. 61
31215389 2019
39
[Acute myelitis associated with anti-neutral glycolipid antibody]. 61
30606995 2019
40
Systemic diseases and disorders. 61
31604558 2019
41
A case of overlap syndrome (scleroderma and polymyositis) associated with the development of sudden chest pain due to myocardial damage. 61
31723102 2019
42
Role of Deleterious Rare Alleles for Acute-Onset Diffuse Interstitial Lung Disease in Collagen Diseases. 61
31391785 2019
43
Ultrasound and color Doppler applications in chronic kidney disease. 61
30191413 2018
44
Dry skin manifestations in Sjögren syndrome and atopic dermatitis related to aberrant sudomotor function in inflammatory allergic skin diseases. 61
30104151 2018
45
Efficacy and safety of minodronic acid hydrate in patients with steroid-induced osteoporosis. 61
26929019 2018
46
Pathogenic roles of B lymphocytes in systemic sclerosis. 61
29307688 2018
47
Long-Term Clinical Outcomes Survey of Bone Marrow-Derived Cell Therapy in Critical Limb Ischemia in Japan. 61
29386474 2018
48
The Complement System Is Critical in Maintaining Retinal Integrity during Aging. 61
29497373 2018
49
Five-decade-delayed closed flexor tendon rupture due to Galeazzi dislocation fracture associated with Behçet syndrome: A case report. 61
29913431 2018
50
Serum Soluble Vascular Cell Adhesion Molecule-1 Overexpression Is a Disease Marker in Patients with First-Time Diagnosed Antinuclear Antibodies: A Prospective, Observational Pilot Study. 61
29487871 2018

Variations for Collagen Disease

Expression for Collagen Disease

Search GEO for disease gene expression data for Collagen Disease.

Pathways for Collagen Disease

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
2
Show member pathways
12.84 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1
3
Show member pathways
12.68 VWF TNXB COL5A2 COL5A1 COL3A1 COL2A1
4
Show member pathways
12.28 THBD PLOD1 ELN COL5A2 COL5A1 COL3A1
5
Show member pathways
11.93 TNXB PLOD1 FBN1 ELN COL5A2 COL5A1
6
Show member pathways
11.85 VWF TNXB FBN1 COL2A1 COL1A1
7 11.78 VWF COL3A1 COL1A1
8 11.65 THBD COL3A1 COL1A1
9 11.42 COL3A1 COL2A1 COL1A1
10 11.32 VWF COL3A1 COL1A1
11 11.09 TNXB COL5A2 COL5A1 COL3A1
12 10.77 FBN1 ELN COL5A2 COL5A1 COL3A1 COL2A1

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 10.13 VWF TNXB SFTPD SERPINA3 NPPA FBN1
2 extracellular space GO:0005615 10.03 TNXB THBD SFTPD SERPINA3 NPPA FBN1
3 endoplasmic reticulum lumen GO:0005788 9.85 FBN1 COL5A2 COL5A1 COL3A1 COL2A1 COL1A1
4 collagen trimer GO:0005581 9.63 SFTPD COL5A2 COL5A1 COL3A1 COL2A1 COL1A1
5 basement membrane GO:0005604 9.61 FBN1 COL5A1 COL2A1
6 extracellular matrix GO:0031012 9.56 TNXB FBN1 ELN COL5A2 COL5A1 COL3A1
7 collagen type V trimer GO:0005588 9.4 COL5A2 COL5A1
8 collagen-containing extracellular matrix GO:0062023 9.4 VWF TNXB SERPINA3 NPPA FBN1 ELN

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.83 SFTPD COL3A1 COL2A1 COL1A1
2 platelet degranulation GO:0002576 9.76 VWF SERPINA3 APOH
3 platelet activation GO:0030168 9.74 VWF COL3A1 COL1A1
4 ossification GO:0001503 9.73 COL5A2 COL2A1 COL1A1
5 blood vessel development GO:0001568 9.65 COL5A1 COL3A1 COL1A1
6 skeletal system development GO:0001501 9.65 FBN1 COL5A2 COL3A1 COL2A1 COL1A1
7 cellular response to amino acid stimulus GO:0071230 9.63 COL5A2 COL3A1 COL1A1
8 blood coagulation, intrinsic pathway GO:0007597 9.58 VWF APOH
9 negative regulation of blood coagulation GO:0030195 9.55 THBD APOH
10 negative regulation of fibrinolysis GO:0051918 9.54 THBD APOH
11 collagen biosynthetic process GO:0032964 9.51 COL5A1 COL1A1
12 supramolecular fiber organization GO:0097435 9.5 COL5A1 COL3A1 B4GALT7
13 proteoglycan metabolic process GO:0006029 9.49 COL2A1 B4GALT7
14 skin development GO:0043588 9.46 COL5A2 COL5A1 COL3A1 COL1A1
15 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 COL2A1 COL1A1
16 collagen fibril organization GO:0030199 9.43 TNXB COL5A2 COL5A1 COL3A1 COL2A1 COL1A1
17 eye morphogenesis GO:0048592 9.4 COL5A2 COL5A1
18 negative regulation of endodermal cell differentiation GO:1903225 9.37 COL5A2 COL5A1
19 extracellular matrix organization GO:0030198 9.28 VWF TNXB FBN1 ELN COL5A2 COL5A1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 VWF TNXB THBD SNRNP70 SLC39A13 SFTPD
2 identical protein binding GO:0042802 9.98 VWF SFTPD RPL7 FBN1 COL2A1 COL1A1
3 heparin binding GO:0008201 9.67 TNXB FBN1 COL5A1 APOH
4 protease binding GO:0002020 9.65 VWF COL3A1 COL1A1
5 integrin binding GO:0005178 9.65 VWF TNXB FBN1 COL5A1 COL3A1
6 proteoglycan binding GO:0043394 9.46 COL5A1 COL2A1
7 platelet-derived growth factor binding GO:0048407 9.46 COL5A1 COL3A1 COL2A1 COL1A1
8 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN1 ELN
9 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.35 COL5A2 COL5A1 COL3A1 COL2A1 COL1A1
10 extracellular matrix structural constituent GO:0005201 9.28 VWF TNXB FBN1 ELN COL5A2 COL5A1

Sources for Collagen Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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