MCID: CNN005
MIFTS: 66

Connective Tissue Disease

Categories: Bone diseases, Cancer diseases, Muscle diseases, Skin diseases

Aliases & Classifications for Connective Tissue Disease

MalaCards integrated aliases for Connective Tissue Disease:

Name: Connective Tissue Disease 12 15 17
Connective Tissue Diseases 54 43 71
Abnormality of Connective Tissue 29 6
Connective Tissue Disorder 12 6
Disorder of Connective Tissue 12
Connective Tissue Disorders 42

Classifications:



External Ids:

Disease Ontology 12 DOID:65
MeSH 43 D003240
NCIt 49 C26729
UMLS 71 C0009782

Summaries for Connective Tissue Disease

MedlinePlus : 42 Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts their shape and helps keep them strong. It also helps some of your tissues do their work. It is made of many kinds of proteins. Cartilage and fat are types of connective tissue. Over 200 disorders that impact connective tissue. There are different types: Genetic disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta Autoimmune disorders, such as lupus and scleroderma Cancers, like some types of soft tissue sarcoma Each disorder has its own symptoms and needs different treatment. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Connective Tissue Disease, also known as connective tissue diseases, is related to mixed connective tissue disease and collagen disease, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Connective Tissue Disease is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Pirfenidone and Aminolevulinic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and bone, and related phenotypes are cardiovascular system and cellular

Disease Ontology : 12 A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.

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

Related Diseases for Connective Tissue Disease

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

(show top 50) (show all 1274)
# Related Disease Score Top Affiliating Genes
1 mixed connective tissue disease 36.6 TNF RNPC3 IL6 IL10 HSPD1 HLA-DRB1
2 collagen disease 34.5 TNF SMAD3 PLOD1 IL6 IL10 FBN1
3 aortic aneurysm, familial thoracic 1 33.8 SMAD3 FBN2 FBN1 COL5A1 COL3A1 ACTA2
4 systemic lupus erythematosus 33.8 TNF RNPC3 IL6 IL10 HSPD1 HLA-DRB1
5 rheumatic fever 33.7 TNF IL6 IL10 HLA-DRB1 CD40LG
6 marfan syndrome 33.6 FBN2 FBN1 COL5A1 COL3A1 ACTA2
7 raynaud disease 33.6 EDNRA CENPB CD40LG
8 weill-marchesani syndrome 33.3 TNF FBN2 FBN1 ADAMTS13
9 scleroderma, familial progressive 33.2 FBN1 CENPB
10 systemic scleroderma 33.2 TNF SFTPD IL6 FBN1 CENPB CD40LG
11 juvenile rheumatoid arthritis 33.1 TNF IL6 IL10 HLA-DRB1
12 arterial tortuosity syndrome 33.1 SMAD3 FBN1 COL3A1 ACTA2
13 sjogren syndrome 33.0 IL10 CENPB CD40LG APOH
14 autoimmune disease 33.0 TNF IL6 IL10 HSPD1 HLA-DRB1 CENPB
15 lung disease 33.0 TNF SFTPD IL6 IL10 CD40LG
16 interstitial lung disease 33.0 TNF SFTPD IL6 IL10 CD40LG
17 polyarteritis nodosa 32.9 SMAD3 IL6 HLA-DRB1 APOH
18 pulmonary hypertension 32.9 TNF SMAD3 IL6 EDNRA BMPR2 ACTA2
19 temporal arteritis 32.8 TNF IL6 HLA-DRB1 CD40LG APOH
20 vasculitis 32.8 TNF IL6 HSPD1 CD40LG APOH
21 takayasu arteritis 32.8 TNF IL6 IL10 HLA-DRB1 CD40LG APOH
22 rheumatic disease 32.8 TNF SFTPD RNPC3 IL10 HLA-DRB1 CENPB
23 childhood type dermatomyositis 32.7 TNF IL6 CD40LG
24 kawasaki disease 32.7 TNF IL6 IL10 HSPD1 CD40LG
25 behcet syndrome 32.6 TNF IL6 IL10 HSPD1 HLA-DRB1 CD40LG
26 microscopic polyangiitis 32.6 TNF HLA-DRB1
27 lupus erythematosus 32.6 TNF IL10 HLA-DRB1 CD40LG APOH
28 vascular disease 32.6 TNF IL6 IL10 HSPD1 CD40LG BMPR2
29 churg-strauss syndrome 32.5 TNF IL10 CD40LG
30 pulmonary fibrosis, idiopathic 32.5 TNF SMAD3 SFTPD IL6 IL10 COL3A1
31 pneumonia 32.5 TNF SFTPD IL6 IL10 HSPD1 CD40LG
32 adult-onset still's disease 32.5 TNF IL6 HLA-DRB1
33 purpura 32.4 TNF IL6 IL10 CD40LG APOH ADAMTS13
34 reactive arthritis 32.4 TNF IL6 IL10 HSPD1
35 antiphospholipid syndrome 32.4 TNF CD40LG APOH ADAMTS13
36 thrombocytopenia 32.4 TNF IL6 IL10 CD40LG APOH ADAMTS13
37 rheumatoid arthritis 32.3 TNF IL6 IL10 HSPD1 HLA-DRB1 CD40LG
38 primary biliary cirrhosis 32.3 TNF IL6 IL10 HSPD1 HLA-DRB1 CENPB
39 calcinosis 32.3 TNF HLA-DRB1 FBN1 CENPB
40 myocarditis 32.2 TNF IL6 IL10 CD40LG
41 exanthem 32.1 TNF IL6 IL10 CD40LG
42 spondylitis 32.1 TNF IL6 IL10
43 meningitis 32.1 TNF IL6 IL10 CD40LG
44 thrombotic thrombocytopenic purpura 32.1 HLA-DRB1 CD40LG APOH ADAMTS13
45 autoimmune hepatitis 32.1 TNF IL10 HLA-DRB1 CD40LG
46 portal hypertension 32.1 TNF EDNRA CD40LG BMPR2 ADAMTS13
47 sarcoidosis 1 32.1 TNF SFTPD HLA-DRB1 CD40LG
48 pericarditis 32.1 TNF IL6 CD40LG
49 psoriatic arthritis 32.0 TNF IL6 IL10 HLA-DRB1 CD40LG
50 myelitis 32.0 TNF IL6 IL10 CD40LG APOH

Graphical network of the top 20 diseases related to Connective Tissue Disease:



Diseases related to Connective Tissue Disease

Symptoms & Phenotypes for Connective Tissue Disease

UMLS symptoms related to Connective Tissue Disease:


back pain, sciatica, muscle cramp, joint symptom, musculoskeletal symptom

MGI Mouse Phenotypes related to Connective Tissue Disease:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 ACTA2 BMPR2 CD40LG COL3A1 COL5A1 EDNRA
2 cellular MP:0005384 10.34 BMPR2 CD40LG CENPB COL3A1 EDNRA FBN1
3 growth/size/body region MP:0005378 10.32 BMPR2 CENPB COL3A1 COL5A1 EDNRA FBN1
4 mortality/aging MP:0010768 10.28 ADAMTS13 APOH BMPR2 CD40LG CENPB COL3A1
5 homeostasis/metabolism MP:0005376 10.25 ADAMTS13 APOH BMPR2 CD40LG COL3A1 EDNRA
6 hematopoietic system MP:0005397 10.23 ADAMTS13 BMPR2 CD40LG COL3A1 EDNRA FBN1
7 immune system MP:0005387 10.18 ADAMTS13 BMPR2 CD40LG COL3A1 EDNRA FBN1
8 embryo MP:0005380 10.16 BMPR2 COL5A1 EDNRA FBN1 HSPD1 IL10
9 endocrine/exocrine gland MP:0005379 10.15 CD40LG CENPB EDNRA FBN1 IL10 IL6
10 integument MP:0010771 10.15 BMPR2 CD40LG COL3A1 COL5A1 EDNRA FBN1
11 muscle MP:0005369 10 ACTA2 BMPR2 COL3A1 EDNRA FBN1 FBN2
12 respiratory system MP:0005388 9.81 BMPR2 COL3A1 EDNRA FBN1 FBN2 IL10
13 skeleton MP:0005390 9.65 BMPR2 CD40LG EDNRA FBN1 FBN2 IL10
14 vision/eye MP:0005391 9.32 ACTA2 ADAMTS13 BMPR2 COL5A1 EDNRA FBN2

Drugs & Therapeutics for Connective Tissue Disease

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

(show top 50) (show all 327)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
2
Aminolevulinic acid Approved Phase 4 106-60-5 137
3
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
4
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
5
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
6
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
7
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
8
Etanercept Approved, Investigational Phase 4 185243-69-0
9
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
10
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
11
Nitric Oxide Approved Phase 4 10102-43-9 145068
12
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
13
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
14
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
15
Bisoprolol Approved Phase 4 66722-44-9 2405
16
Ramipril Approved Phase 4 87333-19-5 5362129
17
leucovorin Approved Phase 4 58-05-9 6006 143
18
Adalimumab Approved Phase 4 331731-18-1 16219006
19
Budesonide Approved Phase 4 51333-22-3 63006 5281004
20
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
21
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
22
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
23
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
24
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
25
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
26
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
27
Macitentan Approved Phase 4 441798-33-0
28
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
29
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
31 Beraprost Investigational Phase 4 88430-50-6
32 Photosensitizing Agents Phase 4
33 Methyl 5-aminolevulinate Phase 4
34 Vasodilator Agents Phase 4
35 Calcium, Dietary Phase 4
36 Antimetabolites Phase 4
37 Hypolipidemic Agents Phase 4
38 Lipid Regulating Agents Phase 4
39 Phosphodiesterase 3 Inhibitors Phase 4
40 Adrenergic Antagonists Phase 4
41 Adrenergic beta-1 Receptor Antagonists Phase 4
42 Adrenergic beta-Antagonists Phase 4
43 Sympatholytics Phase 4
44 Angiotensin-Converting Enzyme Inhibitors Phase 4
45 Ketorolac Tromethamine Phase 4
46 HIV Protease Inhibitors Phase 4
47
protease inhibitors Phase 4
48 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
49 Rosuvastatin Calcium Phase 4 147098-20-2
50 Anticholesteremic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 354)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
2 Randomized Controlled Trial of Pirfenidone in Patients With Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
3 Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study. Unknown status NCT00637065 Phase 4 Bosentan;Placebo
4 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
5 Vasoreactivity Testing With Intravenous Sildenafil in Patients With Precapillary Pulmonary Hypertension (Treatment Optimisation Study) Completed NCT01889966 Phase 4 Sildenafil
6 Time To Efficacy and Onset Of Action Of Linezolid In Skin and Soft Tissue Infections Completed NCT00147511 Phase 4 linezolid
7 Safety and Efficacy of Pletal (Cilostazol) for the Treatment of Juvenile Primary and Secondary Raynaud’s Phenomenon Completed NCT00048776 Phase 4 Pletal
8 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Pulmonary Arterial Hypertension Children Associated With Left to Right Shunt Congenital Heart Defect Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
9 Evaluation of Vaccination Against Influenza (Seasonal and H1N1) in Patients Presenting Systemic or Autoimmune Diseases Treated or Not With Steroids, and/or Immunosuppressant, and/or Biotherapy: an Open, Prospective Trial (MAIVAX) Completed NCT01065285 Phase 4
10 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
11 Mini-flared Kelman Tip and Reverse Tip With Torsional Phaco: Prospective Randomized Comparative Study Completed NCT02089698 Phase 4
12 A Phase 4 Trial Assessing the ImPact of Residual Inflammation Detected Via Imaging TEchniques, Drug Levels and Patient Characteristics on the Outcome of Dose TaperIng of Adalimumab in Clinical Remission Rheumatoid ArThritis (RA) Subjects (PREDICTRA) Completed NCT02198651 Phase 4
13 Comparison of Ketorolac Tromethamine 0.4% and Nepafenac 0.1% for the Prevention of Cystoid Macular Edema After Phacoemulsification: Prospective Randomized Double-masked Study Completed NCT02084576 Phase 4 Nepafenac;Ketorolac
14 An Open-label Non-randomized Phase IV Trial of the Clinical Efficacy of Intravenously Administered 1000mg Paracetamol as Antipyretic and Analgesic Medication Completed NCT01070732 Phase 4 Paracetamol
15 The Clinical Efficacy And Subclinical Effects on Arterial STIFFNESS of Bosentan Therapy Added to Usual Care in Patients With Systemic Sclerosis With Digital Ulcers Completed NCT02480335 Phase 4 bosentan
16 A Multicentre Randomised Trial Of Etanercept And Methotrexate To Induce Remission In Early Inflammatory Arthritis Completed NCT01303874 Phase 4 Etanercept (ETN);Placebo
17 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
18 Effect of Pioglitazone on Insulin Resistance, Progression of Atherosclerosis and Clinical Course of Coronary Heart Disease Completed NCT03011775 Phase 4 Pioglitazone 15 mg Tablet;Isosorbide Dinitrate 10Mg Tablet;Acetylsalicylic Acid 75Mg Tablet;Bisoprolol Fumarate 2.5 MG Oral Tablet;Rosuvastatin Calcium 20 MG Oral Tablet;ramipril 5 MG
19 Spherical Aberration and Contrast Sensitivity in Eyes Implanted With Aspheric and Spherical Intraocular Lenses: Clinical Comparative Study Completed NCT00576485 Phase 4
20 Novel Form of Acquired Long QT Syndrome Recruiting NCT04169100 Phase 4 Prednisone
21 MIRACLE (Methotrexate Inadequate Response Patient With Rheumatoid Arthritis Treated by Adalimumab in Combination With Low-dose Methotrexate) Study Recruiting NCT03505008 Phase 4 Methotrexate;Adalimumab
22 Differences of Small Airways Function Between Chronic Obstructive Pulmonary Disease(COPD) and Asthma-copd Overlap(ACO) Recruiting NCT03563001 Phase 4 Budesonide(160ug) and Formoterol(4.5ug) bid
23 Sirolimus in Patients With Connective Tissue Disease Related Thrombocytopenia (CTD-TP): a Single-arm, Open-label Clinical Trial in China Active, not recruiting NCT03688191 Phase 4 Sirolimus
24 Effect of Sacubitril/Valsartan on Right Ventricular Dysfunctioning Patients With Connective Tissue Disease Not yet recruiting NCT04197050 Phase 4 Sacubitril / Valsartan Oral Tablet
25 A Safety and Clinical Efficacy Study Measuring Echocardiographic Composite Comparing Ambrisentan (Letairis®) After a Switch From Bosentan (Tracleer®) or Macintentan (Opsumit®) in Treatment of Pulmonary Arterial Hypertension (PAH) Terminated NCT02885012 Phase 4 Ambrisentan
26 Benign Acute Pericarditis: Brief Versus Longer Treatment. Randomized, Multicentric, Double Blind, Non Inferiority Trial Terminated NCT00946907 Phase 4 Aspirin;placebo
27 A Pilot Study to Evaluate the Effect of Bosentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Associated With Connective Tissue Disease Unknown status NCT00864201 Phase 3 bosentan
28 The Safety and Effectiveness of Trimethoprim/Sulfamethoxazole as Pneumocystis Carinii Pneumonia (PCP) Prophylaxis in Patients With Connective Tissue Diseases Unknown status NCT01747278 Phase 2, Phase 3 Trimethoprim/Sulfamethoxazole
29 Double Blind Controlled Trial of Alendronate for the Treatment of Childhood and Adolescent Glucocorticoid-Associated Osteopenia and Osteoporosis Unknown status NCT00209469 Phase 2, Phase 3 alendronate sodium
30 Platelet Gel for Digital Ulcers in Patients With SSc: a Randomized Controlled Trial Unknown status NCT00463125 Phase 2, Phase 3 Platelet Gel
31 Phase III Single-blind Randomized Controlled Trial of Bipap Versus CPAP in Overlap Syndrome Unknown status NCT01427673 Phase 3
32 Calcinosis Cutis: Therapeutic Effects of Extracorporeal Shock Wave Therapy (ESWT) Completed NCT01683500 Phase 3
33 Double-Blinded Controlled Trial of Alendronate for the Treatment of Childhood and Adolescent Glucocorticoid- Associated Osteopenia and Osteoporosis Completed NCT00277251 Phase 2, Phase 3 Alendronate
34 A Randomized Multi-Center, Double-Blind, Placebo-Controlled Study of a New Modified-Release Tablet Formulation of Prednisone (Lodotra®) in Patients With Rheumatoid Arthritis Completed NCT00650078 Phase 3 MR prednisone;Placebo
35 Phase II/III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone in Women With Mild to Moderate Systemic Lupus Erythematosus Completed NCT00004795 Phase 2, Phase 3 dehydroepiandrosterone
36 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Oral Iloprost for Raynaud's Phenomenon Secondary to Systemic Sclerosis Completed NCT00004786 Phase 3 iloprost
37 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dehydroepiandrosterone in Women With Active Systemic Lupus Erythematosus Completed NCT00004662 Phase 3 dehydroepiandrosterone
38 A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Patients With Systemic Lupus Erythematosus (SLE) Completed NCT01205438 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks
39 A Phase 3, Multicenter, Randomized, Double Blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Subcutaneous LY2127399 in Participants With Systemic Lupus Erythematosus (SLE) Completed NCT01196091 Phase 3 LY2127399;Placebo every 2 weeks;Placebo every 4 weeks;Standard of Care
40 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Safety and Efficacy Study of Sitaxsentan Sodium (Thelin™) Treatment With an Open-Label Bosentan Arm in Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT00080457 Phase 3 sitaxsentan sodium
41 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
42 Effectiveness and Safety of Lidocaine for Scleroderma. Randomized Double-Blind Clinical Trial Completed NCT00740285 Phase 2, Phase 3 Lidocaine 2% without vessel constrictor
43 Phase III Randomized Study of Collagenase in Patients With Residual Stage Dupuytren's Disease Completed NCT00014742 Phase 3 collagenase
44 Trial of Beta Blocker Therapy (Atenolol) Versus Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals With Marfan Syndrome (A Trial Conducted by the Pediatric Heart Network) Completed NCT00429364 Phase 3 Losartan Potassium;Atenolol
45 Primary Mesh Closure of Abdominal Midline Wounds; a Prospective Randomized Multicenter Trial Completed NCT00761475 Phase 3
46 A Trial of Pamidronate in Children With Osteogenesis Imperfecta Completed NCT00005901 Phase 3 Pamidronate (Aredia)
47 Randomized Study of the Treatment of Primary Immune Thrombocytopenic Purpura (ITP) in Newly Diagnosed Untreated Adult Patients. Comparison of Standard Dose Prednisone Versus High-dose Dexamethasone. Completed NCT00657410 Phase 3 dexamethasone;prednisone
48 Effects of Combined Spinal-epidural Analgesia During Labor on Postpartum Electrophysiological Function of Maternal Pelvic Floor Muscle: a Randomized Controlled Trial Completed NCT02334150 Phase 2, Phase 3 CSEA (ropivocaine and sufentanil)
49 Cyclophosphamide Versus Placebo in Scleroderma Lung Study Completed NCT00004563 Phase 3 Cyclophosphamide;Placebo
50 Expired CO2/O2 Analysis to Diagnose Pulmonary Embolism Completed NCT00368836 Phase 2, Phase 3

Search NIH Clinical Center for Connective Tissue Disease

Cochrane evidence based reviews: connective tissue diseases

Genetic Tests for Connective Tissue Disease

Genetic tests related to Connective Tissue Disease:

# Genetic test Affiliating Genes
1 Abnormality of Connective Tissue 29

Anatomical Context for Connective Tissue Disease

MalaCards organs/tissues related to Connective Tissue Disease:

40
Lung, Skin, Bone, Heart, Testes, Breast, T Cells

Publications for Connective Tissue Disease

Articles related to Connective Tissue Disease:

(show top 50) (show all 9544)
# Title Authors PMID Year
1
Degos cutaneous disease with features of connective tissue disease. 54 61
20375824 2010
2
Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. 54 61
19573590 2009
3
Heterogeneous pathogenic processes of thrombotic microangiopathies in patients with connective tissue diseases. 54 61
19652889 2009
4
Transforming growth factor-beta in systemic sclerosis (scleroderma). 54 61
19482698 2009
5
Liver-specific enhancer in ABCC6 promoter-Functional evidence from natural polymorphisms. 54 61
19341707 2009
6
[Selective inhibition of type A endothelin receptors: a treatment of choice for pulmonary arterial hypertension associated with connective tissue diseases]. 54 61
19081312 2009
7
Selective endothelin A receptor antagonism with sitaxsentan for pulmonary arterial hypertension associated with connective tissue disease. 54 61
17472992 2007
8
Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease. 54 61
16941203 2007
9
Bosentan treatment for pulmonary arterial hypertension related to connective tissue disease: a subgroup analysis of the pivotal clinical trials and their open-label extensions. 54 61
16793845 2006
10
Elastic fibres in health and disease. 54 61
16893474 2006
11
Analyses of ADAMTS13 activity and its inhibitor in patients with thrombotic thrombocytopenic purpura secondary to connective tissue diseases: Observations in a single hospital. 54 61
16956441 2006
12
The role of endothelin-1 and selected cytokines in the pathogenesis of Raynaud's phenomenon associated with systemic connective tissue diseases. 54 61
16763543 2006
13
Spontaneous rupture of the colon sigmoid following spontaneous recurrent pneumothorax in a patient with Marfan syndrome. 54 61
16501427 2006
14
Bosentan: a review of its use in pulmonary arterial hypertension and systemic sclerosis. 54 61
16780392 2006
15
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 54 61
15558324 2005
16
Lack of circulating autoantibodies to bone morphogenetic protein receptor-II or activin receptor-like kinase 1 in mixed connective tissue disease patients with pulmonary arterial hypertension. 54 61
15509626 2005
17
Absence of high-affinity calreticulin autoantibodies in patients with systemic rheumatic diseases and coeliac disease. 54 61
16081363 2005
18
[Pulmonary arterial hypertension]. 54 61
15049592 2004
19
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. 54 61
14516151 2003
20
Von Willebrand factor cleaving protease (ADAMTS-13) in 123 patients with connective tissue diseases (systemic lupus erythematosus and systemic sclerosis). 54 61
12935979 2003
21
Abnormalities of serum antielastin antibodies in connective tissue diseases. 54 61
12643515 2003
22
[Assessment of serum markers KL-6 and SP-D for interstitial pneumonia associated with connective tissue diseases]. 54 61
12692985 2003
23
Anti-lactoferrin antibodies in patients with connective tissue diseases. 54 61
15272812 2003
24
Mutations of bone morphogenetic protein receptor type II are not found in patients with pulmonary hypertension and underlying connective tissue diseases. 54 61
12384956 2002
25
Autoantibodies directed against the amino-terminal domain I of human calpastatin (ACAST-DI Ab) in connective tissue diseases. High levels of ACAST-DI Ab are associated with vasculitis in lupus. 54 61
12367559 2002
26
Helicobacter pylori infection in connective tissue disorders is associated with high levels of antibodies to mycobacterial hsp65 but not to human hsp60. 54 61
12165033 2002
27
[Results of stapedectomy in osteogenesis imperfecta]. 54 61
12162021 2002
28
Endothelial cell-binding activity of anti-U1-ribonucleoprotein antibodies in patients with connective tissue diseases. 54 61
11703381 2001
29
Autoantibodies to the 27 C-terminal amino acids of calpastatin are detected in a restricted set of connective tissue diseases and may be useful for diagnosis of rheumatoid arthritis in community cases of very early arthritis. 54 61
11600742 2001
30
Distinct autoreactive T cell responses to native and fragmented DNA topoisomerase I: influence of APC type and IL-2. 54 61
11313383 2001
31
Surface expression of a glycolytic enzyme, alpha-enolase, recognized by autoantibodies in connective tissue disorders. 54 61
11169399 2000
32
Fibrillin-1, a calcium binding protein of extracellular matrix. 54 61
11108952 2000
33
Sialochemical markers of salivary gland involvement with Sjögren's syndrome secondary to rheumatoid arthritis and primary biliary cirrhosis. 54 61
11016688 2000
34
Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred. 54 61
10739800 2000
35
Characterisation of fibrillin-1 cDNA clones in a human fibroblast cell line that assembles microfibrils. 54 61
10687954 2000
36
Extrahepatic manifestations associated with hepatitis C virus infection. A prospective multicenter study of 321 patients. The GERMIVIC. Groupe d'Etude et de Recherche en Medecine Interne et Maladies Infectieuses sur le Virus de l'Hepatite C. 54 61
10670409 2000
37
Up-regulation of intercellular adhesion molecule-1 (ICAM-1), endothelial leucocyte adhesion molecule-1 (ELAM-1) and class II MHC molecules on pulmonary artery endothelial cells by antibodies against U1-ribonucleoprotein. 54 61
10209523 1999
38
T cell receptor beta-chain third complementarity-determining region gene usage is highly restricted among Sm-B autoantigen-specific human T cell clones derived from patients with connective tissue disease. 54 61
10211884 1999
39
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. 54 61
10090884 1999
40
Comparison between the standard anticardiolipin antibody test and a new phospholipid test in patients with connective tissue diseases. 54 61
10090168 1999
41
Anticardiolipin antibodies after kidney transplantation in patients without connective tissue disease. 54 61
10083086 1999
42
CA repeat polymorphism in the promoter region of the COL1A2 gene. 54 61
10570918 1999
43
NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1. 54 61
9876915 1998
44
Analysis of human T cell and B cell responses against U small nuclear ribonucleoprotein 70-kd, B, and D polypeptides among patients with systemic lupus erythematosus and mixed connective tissue disease. 54 61
9259431 1997
45
The prevalence and clinical associations of anticardiolipin antibodies in a large inception cohort of patients with connective tissue diseases. 54 61
9003103 1996
46
Seroprevalence of Helicobacter pylori infection in patients with connective tissue diseases. 54 61
8865155 1996
47
Ultrastructure of dentin matrix in heritable dentin defects. 54 61
8553016 1995
48
Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly. 54 61
7622614 1995
49
Antifibrillarin autoantibodies present in systemic sclerosis and other connective tissue diseases interact with similar epitopes. 54 61
7532674 1995
50
Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. 54 61
7759096 1995

Variations for Connective Tissue Disease

ClinVar genetic disease variations for Connective Tissue Disease:

6 (show top 50) (show all 515) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD3 NM_005902.4(SMAD3):c.401-6G>ASNV Pathogenic 213782 rs745672741 15:67457585-67457585 15:67165247-67165247
2 ACTA2 NM_001613.4(ACTA2):c.536G>A (p.Arg179His)SNV Pathogenic 29598 rs387906592 10:90701066-90701066 10:88941309-88941309
3 FBN1 NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys)SNV Pathogenic/Likely pathogenic 16437 rs137854464 15:48717680-48717680 15:48425483-48425483
4 SMAD3 NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln)SNV Pathogenic/Likely pathogenic 180524 rs730880214 15:67473780-67473780 15:67181442-67181442
5 COL11A1 NM_001854.4(COL11A1):c.4140+3A>TSNV Likely pathogenic 547210 rs1553196515 1:103364494-103364494 1:102898938-102898938
6 COL5A1 NM_001278074.1(COL5A1):c.841del (p.Glu281fs)deletion Likely pathogenic 547278 rs1554787779 9:137620570-137620570 9:134728724-134728724
7 NOTCH1 NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr)SNV Likely pathogenic 547712 rs756434709 9:139409122-139409122 9:136514670-136514670
8 COL2A1 NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp)SNV Likely pathogenic 547253 rs1555167139 12:48379720-48379720 12:47985937-47985937
9 COL12A1 NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs)duplication Likely pathogenic 689549 6:75797359-75797360 6:75087643-75087644
10 FBN1 NM_000138.4(FBN1):c.7774T>G (p.Cys2592Gly)SNV Likely pathogenic 689583 15:48712929-48712929 15:48420732-48420732
11 FLNA NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)SNV Conflicting interpretations of pathogenicity 561301 rs782090266 X:153594766-153594766 X:154366398-154366398
12 NOTCH1 NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)SNV Conflicting interpretations of pathogenicity 561319 rs763679772 9:139401209-139401209 9:136506757-136506757
13 COL2A1 NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)SNV Conflicting interpretations of pathogenicity 547247 rs201817670 12:48390390-48390390 12:47996607-47996607
14 MYH11 NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile)SNV Conflicting interpretations of pathogenicity 547546 rs151058774 16:15818834-15818834 16:15724977-15724977
15 COL1A1 NM_000088.3(COL1A1):c.3945C>T (p.Ser1315=)SNV Conflicting interpretations of pathogenicity 547233 rs766059440 17:48263738-48263738 17:50186377-50186377
16 COL1A1 NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr)SNV Conflicting interpretations of pathogenicity 547231 rs769571473 17:48264235-48264235 17:50186874-50186874
17 COL3A1 NM_000090.3(COL3A1):c.3526-10C>TSNV Conflicting interpretations of pathogenicity 547273 rs376171095 2:189873640-189873640 2:189008914-189008914
18 MYLK NM_053025.4(MYLK):c.4620-5C>TSNV Conflicting interpretations of pathogenicity 547560 rs760680632 3:123359356-123359356 3:123640509-123640509
19 MYH11 NM_002474.3(MYH11):c.4579-14C>TSNV Conflicting interpretations of pathogenicity 516342 rs377410503 16:15814922-15814922 16:15721065-15721065
20 MYLK NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe)SNV Conflicting interpretations of pathogenicity 539091 rs200423083 3:123419283-123419283 3:123700436-123700436
21 FBN2 NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)SNV Conflicting interpretations of pathogenicity 528399 rs148598779 5:127693085-127693085 5:128357393-128357393
22 PRKG1 NM_006258.4(PRKG1):c.1174-7_1174-4delshort repeat Conflicting interpretations of pathogenicity 544064 rs762325343 10:54031098-54031101 10:52271338-52271341
23 MYLK NM_053025.4(MYLK):c.800C>A (p.Thr267Asn)SNV Conflicting interpretations of pathogenicity 547553 rs755451013 3:123453043-123453043 3:123734196-123734196
24 COL11A2 NM_080679.2(COL11A2):c.544G>A (p.Val182Ile)SNV Conflicting interpretations of pathogenicity 547213 rs375937729 6:33156201-33156201 6:33188424-33188424
25 COL1A2 NM_000089.3(COL1A2):c.1036-3T>CSNV Conflicting interpretations of pathogenicity 547238 rs370275593 7:94039551-94039551 7:94410239-94410239
26 MYH11 NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)SNV Conflicting interpretations of pathogenicity 180418 rs137934837 16:15814883-15814883 16:15721026-15721026
27 FLNA NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)SNV Conflicting interpretations of pathogenicity 190194 rs200130356 X:153587375-153587375 X:154359007-154359007
28 COL5A1 NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe)SNV Conflicting interpretations of pathogenicity 180298 rs150147262 9:137593039-137593039 9:134701193-134701193
29 COL5A1 NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr)SNV Conflicting interpretations of pathogenicity 180300 rs143859495 9:137727030-137727030 9:134835184-134835184
30 FLNA NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)SNV Conflicting interpretations of pathogenicity 194196 rs200660642 X:153593041-153593041 X:154364673-154364673
31 FLNA NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)SNV Conflicting interpretations of pathogenicity 194727 rs200053635 X:153590902-153590902 X:154362534-154362534
32 SLC39A13 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)SNV Conflicting interpretations of pathogenicity 196579 rs140574574 11:47433573-47433573 11:47412022-47412022
33 COL1A1 NM_000088.3(COL1A1):c.1984-5C>ASNV Conflicting interpretations of pathogenicity 196607 rs66592376 17:48269390-48269390 17:50192029-50192029
34 COL11A1 NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)SNV Conflicting interpretations of pathogenicity 197066 rs78046647 1:103428312-103428312 1:102962756-102962756
35 MYH11 , NDE1 NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)SNV Conflicting interpretations of pathogenicity 197069 rs112948385 16:15809118-15809118 16:15715261-15715261
36 COL3A1 NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr)SNV Conflicting interpretations of pathogenicity 197477 rs149722210 2:189871110-189871110 2:189006384-189006384
37 COL3A1 NM_000090.3(COL3A1):c.1815+5G>ASNV Conflicting interpretations of pathogenicity 195847 rs146652498 2:189861949-189861949 2:188997223-188997223
38 COL3A1 NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg)SNV Conflicting interpretations of pathogenicity 161218 rs111840783 2:189875018-189875018 2:189010292-189010292
39 TGFBR2 NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)SNV Conflicting interpretations of pathogenicity 161394 rs112215250 3:30733044-30733044 3:30691552-30691552
40 FBN1 NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)SNV Conflicting interpretations of pathogenicity 161244 rs146726731 15:48812976-48812976 15:48520779-48520779
41 MYH11 NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)SNV Conflicting interpretations of pathogenicity 161317 rs150759461 16:15872688-15872688 16:15778831-15778831
42 COL5A2 NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)SNV Conflicting interpretations of pathogenicity 155777 rs145404046 2:189927592-189927592 2:189062866-189062866
43 COL5A2 NM_000393.5(COL5A2):c.3471+8A>TSNV Conflicting interpretations of pathogenicity 155778 rs367643805 2:189907869-189907869 2:189043143-189043143
44 FBN2 NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)SNV Conflicting interpretations of pathogenicity 155796 rs147157552 5:127863579-127863579 5:128527886-128527886
45 COL11A2 NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val)SNV Conflicting interpretations of pathogenicity 178927 rs376797260 6:33140133-33140133 6:33172356-33172356
46 COL11A1 NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)SNV Conflicting interpretations of pathogenicity 166922 rs147637674 1:103379193-103379193 1:102913637-102913637
47 COL2A1 NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)SNV Conflicting interpretations of pathogenicity 166926 rs35504014 12:48375911-48375911 12:47982128-47982128
48 COL11A1 NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)SNV Conflicting interpretations of pathogenicity 198019 rs55821405 1:103355059-103355059 1:102889503-102889503
49 COL11A1 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)SNV Conflicting interpretations of pathogenicity 198360 rs140250347 1:103345315-103345315 1:102879759-102879759
50 COL3A1 NM_000090.3(COL3A1):c.119C>T (p.Ala40Val)SNV Conflicting interpretations of pathogenicity 199690 rs201380807 2:189849525-189849525 2:188984799-188984799

Cosmic variations for Connective Tissue Disease:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3
2 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
3 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 3
4 COSM95520543 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
5 COSM95523461 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3
6 COSM95526780 soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 3

Expression for Connective Tissue Disease

Search GEO for disease gene expression data for Connective Tissue Disease.

Pathways for Connective Tissue Disease

Pathways related to Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TNF SMAD3 IL6 IL10 FBN2 FBN1
2
Show member pathways
13.21 TNF SMAD3 IL6 IL10 CD40LG BMPR2
3
Show member pathways
12.98 IL6 FBN2 FBN1 COL5A1 COL3A1 ACTA2
4
Show member pathways
12.66 PLOD1 FBN2 FBN1 COL5A1 COL3A1
5
Show member pathways
12.54 TNF IL6 IL10 HSPD1 HLA-DRB1 COL5A1
6
Show member pathways
12.47 TNF SMAD3 IL6 IL10 HLA-DRB1
7 12.26 TNF SMAD3 IL6 HLA-DRB1
8
Show member pathways
12.16 TNF IL10 HLA-DRB1 CD40LG
9 12.07 TNF IL6 IL10 HSPD1
10 11.97 TNF IL6 IL10 HSPD1 HLA-DRB1
11
Show member pathways
11.93 TNF SMAD3 IL6 IL10
12 11.79 TNF IL6 IL10 COL3A1
13 11.76 TNF SMAD3 IL6 COL3A1
14 11.69 TNF IL6 IL10
15 11.68 TNF SMAD3 FBN1 BMPR2
16 11.67 TNF IL6 IL10
17 11.65 TNF IL6 IL10
18
Show member pathways
11.57 TNF IL6 CD40LG
19 11.51 TNF IL6 HSPD1
20 11.43 TNF IL6 IL10
21 11.38 TNF SMAD3 IL6
22 11.27 TNF IL6 IL10
23 11.21 TNF IL6 IL10
24 11.16 TNF IL6 IL10 CD40LG
25 11.01 SMAD3 FBN2 FBN1
26 10.72 TNF IL6 IL10 HLA-DRB1
27 10.13 TNF IL6 IL10 FBN2 FBN1 COL5A1

GO Terms for Connective Tissue Disease

Cellular components related to Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 TNF SFTPD IL6 IL10 FBN2 FBN1
2 collagen-containing extracellular matrix GO:0062023 9.77 FBN2 FBN1 COL5A1 COL3A1 APOH
3 endoplasmic reticulum lumen GO:0005788 9.72 IL6 FBN1 COL5A1 COL3A1 ADAMTS13
4 extracellular matrix GO:0031012 9.65 FBN2 FBN1 COL5A1 COL3A1 ADAMTS13
5 cell surface GO:0009986 9.5 TNF HSPD1 HLA-DRB1 CD40LG BMPR2 APOH
6 extracellular space GO:0005615 9.44 TNF SFTPD IL6 IL10 HSPD1 FBN1
7 microfibril GO:0001527 9.4 FBN2 FBN1

Biological processes related to Connective Tissue Disease according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.91 SMAD3 SFTPD COL3A1 CD40LG
2 cellular response to lipopolysaccharide GO:0071222 9.87 TNF IL6 IL10 ADAMTS13
3 immune response GO:0006955 9.85 TNF SMAD3 IL6 IL10 HLA-DRB1 CD40LG
4 response to glucocorticoid GO:0051384 9.77 TNF IL6 IL10
5 positive regulation of interleukin-6 production GO:0032755 9.76 TNF IL6 HSPD1
6 positive regulation of osteoblast differentiation GO:0045669 9.75 IL6 FBN2 BMPR2
7 negative regulation of fat cell differentiation GO:0045599 9.72 TNF SMAD3 IL6
8 collagen fibril organization GO:0030199 9.71 PLOD1 COL5A1 COL3A1
9 negative regulation of T cell proliferation GO:0042130 9.69 SFTPD IL10 HLA-DRB1
10 positive regulation of bone mineralization GO:0030501 9.65 SMAD3 FBN2 BMPR2
11 negative regulation of mitotic cell cycle GO:0045930 9.63 TNF SMAD3 IL10
12 positive regulation of neuroinflammatory response GO:0150078 9.62 TNF IL6
13 embryonic eye morphogenesis GO:0048048 9.61 FBN2 FBN1
14 B cell proliferation GO:0042100 9.61 IL10 HSPD1 CD40LG
15 negative regulation of lipid storage GO:0010888 9.6 TNF IL6
16 negative regulation of cytokine secretion involved in immune response GO:0002740 9.56 TNF IL10
17 positive regulation of DNA-binding transcription factor activity GO:0051091 9.56 TNF SMAD3 IL6 IL10
18 regulation of immunoglobulin secretion GO:0051023 9.52 TNF CD40LG
19 positive regulation of JAK-STAT cascade GO:0046427 9.5 TNF IL6 IL10
20 sequestering of TGFbeta in extracellular matrix GO:0035583 9.49 FBN2 FBN1
21 platelet activation GO:0030168 9.46 IL6 COL3A1 CD40LG ADAMTS13
22 receptor biosynthetic process GO:0032800 9.4 TNF IL10
23 extracellular matrix organization GO:0030198 9.35 TNF FBN2 FBN1 COL5A1 COL3A1
24 endothelial cell apoptotic process GO:0072577 8.8 TNF IL10 BMPR2

Molecular functions related to Connective Tissue Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 TNF IL6 IL10 CD40LG
2 platelet-derived growth factor binding GO:0048407 9.32 COL5A1 COL3A1
3 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN2 FBN1
4 extracellular matrix structural constituent GO:0005201 9.26 FBN2 FBN1 COL5A1 COL3A1
5 integrin binding GO:0005178 9.02 FBN1 COL5A1 COL3A1 CD40LG ADAMTS13

Sources for Connective Tissue 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
Content
Loading form....