MCID: DFF003
MIFTS: 57

Diffuse Scleroderma malady

Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Diffuse Scleroderma

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet
See all sources

Diffuse Scleroderma, Aliases & Descriptions:

Name: Diffuse Scleroderma 9 41 60
Diffuse Cutaneous Systemic Scleroderma 41 47
Diffuse Cutaneous Systemic Sclerosis 41 47
Dysplastic Cortical Hyperostosis 41 47
Diffuse Systemic Sclerosis 9 41
Kozlowski-Tsuruta Syndrome 41 47
 
Progressive Cutaneous Systemic Scleroderma 47
Progressive Cutaneous Systemic Sclerosis 47
Systemic Sclerosis, Diffuse 9
Sudden Onset Scleroderma 41
Systemic Scleroderma 60
Dcssc 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
diffuse cutaneous systemic scleroderma:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult


External Ids:

Disease Ontology9 DOID:1580
Orphanet47 2204, 220393
ICD10 via Orphanet26 M89.8, M34.0

Summaries for Diffuse Scleroderma

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MalaCards based summary: Diffuse Scleroderma, also known as diffuse cutaneous systemic scleroderma, is related to interstitial lung disease and systemic scleroderma, and has symptoms including dry skin, acrocyanosis and respiratory insufficiency. An important gene associated with Diffuse Scleroderma is CTGF (connective tissue growth factor), and among its related pathways are amb2 Integrin signaling and Development TGF beta receptor signaling. The drugs chloroquine and chloroquine phosphate and the compounds des-arg(10)-kallidin and kallidin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related mouse phenotype homeostasis/metabolism.

Related Diseases for Diffuse Scleroderma

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Diseases related to Diffuse Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease30.7BMP6, TGFB1
2systemic scleroderma30.4CTGF, IRF5
3skin disease30.3TGFB1, HLA-DRB1
4kidney disease30.2CTGF, KNG1, TGFB1
5hepatitis30.1TGFB1, HLA-DRB1
6systemic lupus erythematosus30.1IRF5, FBL, HLA-DRB1
7connective tissue disease30.0TGFB1, HLA-DRB1
8pulmonary fibrosis30.0CTGF, CAV1, BMP6, TGFB1, FBL
9arthritis29.9HLA-DRB1, TGFB1, KNG1, CTGF
10breast cancer29.4CTGF, CAV1, BMP6, CCR6, TGFB1
11rheumatoid arthritis29.2HLA-DRB1, IRF5, CCR6, BMP6, CTGF
12scleroderma11.0
13hyperostosis10.4
14lupus erythematosus10.3
15telangiectasis10.3FBL, BMP6
16hereditary hemorrhagic telangiectasia10.3BMP6, TGFB1
17crest syndrome10.3
18esophagitis10.3
19dwarfism10.3
20ureteral disease10.3CTGF, TGFB1
21myelofibrosis10.2BMP6, TGFB1
22gingival overgrowth10.2CTGF, TGFB1
23biliary atresia10.2CTGF, TGFB1
24malaria10.2KNG1, HLA-DRB1
25pityriasis rubra pilaris10.2
26microscopic polyangiitis10.2
27bone cancer10.2CAV1, BMP6
28hepatitis b10.1HLA-DRB1, TGFB1
29malignant glioma10.1TGFB1, BMP6, KNG1
30hypertrophic scars10.1TGFB1, BMP6, CTGF
31vitreoretinopathy, neovascular inflammatory10.1CTGF, BMP6, TGFB1
32iga glomerulonephritis10.1BMP6, TGFB1
33keloids10.1CTGF, BMP6, TGFB1
34glomerulosclerosis10.1TGFB1, BMP6, CTGF
35pulmonary fibrosis, idiopathic10.1CTGF, BMP6, TGFB1
36viral hepatitis10.1CTGF, HLA-DRB1
37cork-handlers' disease10.1CTGF, BMP6, TGFB1
38autoimmune hepatitis10.1
39gastric antral vascular ectasia10.1
40steatorrhea10.1
41actinomycosis10.1
42hepatitis a10.1
43mixed connective tissue disease10.1
44vasculitis10.1
45papular mucinosis10.1
46cytomegalovirus infection10.1
47headache10.1
48endotheliitis10.1
49atlantoaxial subluxation10.1
50hypertension, essential10.1KNG1, CAV1, TGFB1

Graphical network of the top 20 diseases related to Diffuse Scleroderma:



Diseases related to diffuse scleroderma

Symptoms for Diffuse Scleroderma

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Symptoms:

 47 (show all 45)
  • microcephaly
  • global upper and lower limbs anomalies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • structural anomalies of the kidney and the urinary tract
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • osteosclerosis/osteopetrosis/bone condensation
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • cortical anomaly/thick bone cortical layer
  • short stature/dwarfism/nanism
  • stillbirth/neonatal death
  • polyhydramnios
  • hydrops fetalis
  • anomalies of skin, subcutaneous tissue and mucosae
  • dry/squaly skin/exfoliation
  • dermal/subcutaneous infiltration/induration
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • radiologic lung abnormalities/changes
  • lung/pulmonary infiltrates
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • autoimmunity/autoimmune reaction/autoantibodies
  • mouth dryness/xerostomia
  • multiple caries
  • chronic skin infection/ulcerations/ulcers/cancrum
  • telangiectasiae of the skin
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • malabsorption/chronic diarrhea/steatorrhea
  • lung fibrosis
  • dyspareunia/coital pain/vaginal dryness
  • muscle weakness/flaccidity
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteolysis/osteoclasia/bone destruction/erosions
  • articular/joint pain/arthralgia
  • arthritis/synovitis/synovial proliferation
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intestinal transit disorder
  • pulmonary hypertension
  • heart/cardiac failure
  • acute arterial hypertension/hypertensive crisis
  • renal failure
  • periarticular tissue anomaly/extraarticular calcifications

HPO human phenotypes related to Diffuse Scleroderma:

(show all 36)
id Description Frequency HPO Source Accession
1 dry skin hallmark (90%) HP:0000958
2 acrocyanosis hallmark (90%) HP:0001063
3 respiratory insufficiency hallmark (90%) HP:0002093
4 pulmonary infiltrates hallmark (90%) HP:0002113
5 autoimmunity hallmark (90%) HP:0002960
6 abnormality of the urinary system hallmark (90%) HP:0000079
7 microcephaly hallmark (90%) HP:0000252
8 polyhydramnios hallmark (90%) HP:0001561
9 splenomegaly hallmark (90%) HP:0001744
10 hydrops fetalis hallmark (90%) HP:0001789
11 hepatomegaly hallmark (90%) HP:0002240
12 abnormality of neuronal migration hallmark (90%) HP:0002269
13 skeletal dysplasia hallmark (90%) HP:0002652
14 abnormality of limb bone morphology hallmark (90%) HP:0002813
15 abnormal cortical bone morphology hallmark (90%) HP:0003103
16 short stature hallmark (90%) HP:0004322
17 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
18 increased bone mineral density hallmark (90%) HP:0011001
19 xerostomia typical (50%) HP:0000217
20 carious teeth typical (50%) HP:0000670
21 muscle weakness typical (50%) HP:0001324
22 arthritis typical (50%) HP:0001369
23 flexion contracture typical (50%) HP:0001371
24 malabsorption typical (50%) HP:0002024
25 pulmonary fibrosis typical (50%) HP:0002206
26 osteolysis typical (50%) HP:0002797
27 arthralgia typical (50%) HP:0002829
28 feeding difficulties in infancy typical (50%) HP:0008872
29 teleangiectasia of the skin typical (50%) HP:0100585
30 skin ulcer typical (50%) HP:0200042
31 renal insufficiency occasional (7.5%) HP:0000083
32 chondrocalcinosis occasional (7.5%) HP:0000934
33 congestive heart failure occasional (7.5%) HP:0001635
34 nausea and vomiting occasional (7.5%) HP:0002017
35 pulmonary hypertension occasional (7.5%) HP:0002092
36 hypertensive crisis occasional (7.5%) HP:0100735

Drugs & Therapeutics for Diffuse Scleroderma

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Drug clinical trials:

Search ClinicalTrials for Diffuse Scleroderma

Search NIH Clinical Center for Diffuse Scleroderma

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Diffuse Scleroderma

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Anatomical Context for Diffuse Scleroderma

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MalaCards organs/tissues related to Diffuse Scleroderma:

31
Skin, Bone, Lung, Heart, Kidney, Liver, Skeletal muscle, Breast

Animal Models for Diffuse Scleroderma or affiliated genes

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MGI Mouse Phenotypes related to Diffuse Scleroderma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.9CTGF, KNG1, CAV1, CCR6, IRF5, TGFB1

Publications for Diffuse Scleroderma

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Articles related to Diffuse Scleroderma:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Successful treatment of steroid and cyclophosphamide-resistant diffuse scleroderma-associated interstitial lung disease with rituximab. (20058013)
2012
2
Skin thickness progression rate: a predictor of mortality and early internal organ involvement in diffuse scleroderma. (20679474)
2011
3
A TGFbeta-responsive gene signature is associated with a subset of diffuse scleroderma with increased disease severity. (19812599)
2010
4
Squamous cell carcinomas in 2 patients with diffuse scleroderma treated with mycophenolate mofetil. (19208586)
2009
5
Autologous stem cell transplantation in diffuse scleroderma: impact on hand structure and function. (18336540)
2008
6
High-dose intravenous immunoglobulin infusion as treatment for diffuse scleroderma. (17381465)
2007
7
The health assessment questionnaire (HAQ) is strongly predictive of good outcome in early diffuse scleroderma: results from an analysis of two randomized controlled trials in early diffuse scleroderma. (14679295)
2004
8
Bilateral breast cancer associated with diffuse scleroderma. (14659331)
2003
9
Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. (12605319)
2003
10
Methotrexate for the treatment of early diffuse scleroderma: comment on the article by Pope et al. (11920427)
2002
11
Unusual overlap of systemic lupus erythematosus and diffuse scleroderma. (11247318)
2001
12
Pseudohypertension in a patient with diffuse scleroderma. (11273902)
2001
13
Increased alpha2-adrenergic constriction of isolated arterioles in diffuse scleroderma. (10943881)
2000
14
Severe organ involvement in systemic sclerosis with diffuse scleroderma. (11083266)
2000
15
Minocycline in early diffuse scleroderma. (9848358)
1998
16
Prevalence of pulmonary hypertension in limited and diffuse scleroderma. (8989070)
1996
17
Thrombotic thrombocytopenic purpura in a patient with diffuse scleroderma. (9251403)
1996
18
Seizures in a patient with diffuse scleroderma. (7494776)
1995
19
Ketotifen-induced remission in progressive early diffuse scleroderma: evidence for the role of mast cells in disease pathogenesis. (2393046)
1990
20
Clinical association of autoantibodies to fibrillarin with diffuse scleroderma and disseminated telangiectasia. (2254467)
1990
21
Progressive systemic sclerosis (diffuse scleroderma) and radiotherapy. (2242481)
1990
22
Organ manifestations in 100 patients with progressive systemic sclerosis: a comparison between the CREST syndrome and diffuse scleroderma. (2787182)
1989
23
Mast cell numbers in diffuse scleroderma. (3813593)
1987
24
Scl-86, a marker antigen for diffuse scleroderma. (3980727)
1985
25
Landmark article May 23, 1942: Diffuse collagen disease. Acute disseminated lupus erythematosus and diffuse scleroderma. By Paul Klemperer, Abou D. Pollack and George Baehr. (6366270)
1984
26
Myocardial function and perfusion in the CREST syndrome variant of progressive systemic sclerosis. Exercise radionuclide evaluation and comparison with diffuse scleroderma. (6475990)
1984
27
Pulmonary function in progressive systemic sclerosis. Comparison of CREST syndrome variant with diffuse scleroderma. (6628005)
1983
28
Reversible acute renal faiure in diffuse scleroderma. (7408249)
1980
29
Progressive systemic sclerosis (diffuse scleroderma). A follow-up report of treatment with potaba. (4576830)
1973
30
Esophageal reconstruction for stenosis due to diffuse scleroderma. Utilizing blunt dissection of esophagus. (4783042)
1973
31
Recurrent spontaneous pneumothorax in diffuse scleroderma. Report of a case. (5907810)
1966
32
Electron microscopic observations on skeletal muscle in diffuse scleroderma. (5944482)
1966
33
PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA) TREATMENT WITH POTABA--A PRELIMINARY REPORT. (14297920)
1965
34
AN EARLY PULMONARY PHYSIOLOGIC ABNORMALITY IN PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14131880)
1964
35
THE NERVE NETWORK OF THE SKIN IN DIFFUSE SCLERODERMA AND CLINICALLY SIMILAR CONDITIONS. (14071463)
1963
36
A REVIEW OF RECENT OBSERVATIONS AND CURRENT THEORIES ON THE ETIOLOGY AND PATHOGENESIS OF PROGRESSIVE SYSTEMIC SCLEROSIS (DIFFUSE SCLERODERMA). (14058399)
1963
37
The natural history of progressive systemic sclerosis (diffuse scleroderma). (13974644)
1963
38
Immunoelectrophoresis of serum in progressive systemic sclerosis (diffuse scleroderma). (13788679)
1961
39
Acrosclerosis: a disease sui generis or a variety of diffuse scleroderma. (13638459)
1959
40
Esophageal involvement in diffuse scleroderma. (13645796)
1959
41
Diffuse scleroderma; a clinical study of sixty-five cases. (13585869)
1958
42
Musculoskeletal manifestations of systemic lupus erythematosus, polyarteritis nodosa, dermatomyositis and diffuse scleroderma. (13539595)
1958
43
Dental characteristics associated with acrosclerosis and diffuse scleroderma. (13428493)
1957
44
Observations on the use of prednisone in patients with progressive systemic sclerosis (diffuse scleroderma). (13275847)
1956
45
Diffuse scleroderma in an African male. (13097594)
1953
46
Clinical study of visceral lesions and endocrine disturbances in eight cases of diffuse scleroderma. (14830069)
1951
47
Diffuse scleroderma, with report of a case showing multiple lesions. (14852204)
1951
48
Esophageal lesions in diffuse scleroderma. (18113050)
1949
49
Clinical study of visceral lesions and endocrine disturbances in eight cases with diffuse scleroderma. (18100851)
1948
50
Diffuse scleroderma with involvement of the heart; report of a case. (20286355)
1947

Variations for Diffuse Scleroderma

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Expression for genes affiliated with Diffuse Scleroderma

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Search GEO for disease gene expression data for Diffuse Scleroderma.

Pathways for genes affiliated with Diffuse Scleroderma

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Pathways related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CTGF, KNG1
29.5CAV1, TGFB1
3
Show member pathways
ALK1 pathway36
9.5CAV1, TGFB1
49.4TGFB1, HLA-DRB1
59.4TGFB1, HLA-DRB1
6
Show member pathways
9.3TGFB1, KNG1
79.3KNG1, TGFB1
89.3TGFB1, BMP6
99.2CTGF, CAV1, TGFB1
10
Show member pathways
9.1CAV1, TGFB1, HLA-DRB1
11
Show member pathways
9.0TGFB1, BMP6, CTGF
129.0TGFB1, BMP6, CTGF
13
Show member pathways
9.0CTGF, BMP6, TGFB1
14
Show member pathways
9.0CTGF, BMP6, TGFB1
15
Show member pathways
8.7CTGF, CAV1, BMP6, TGFB1
16
Show member pathways
8.6TGFB1, CCR6, BMP6, CTGF
17
Show member pathways
8.6TGFB1, CCR6, BMP6, CTGF
18
Show member pathways
8.6TGFB1, CCR6, BMP6, CTGF
19
Show member pathways
8.6HLA-DRB1, TGFB1, BMP6, CTGF

Compounds for genes affiliated with Diffuse Scleroderma

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Compounds related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1des-arg(10)-kallidin4310.1CTGF, KNG1
2kallidin43 2811.0CTGF, KNG1
3aristolochic acid43 210.9CTGF, TGFB1
4tranilast439.7BMP6, TGFB1
5ramipril43 1210.7KNG1, TGFB1
6pirfenidone43 5910.7BMP6, TGFB1
7simvastatin43 49 59 28 24 1214.7CTGF, CAV1, BMP6
85-aza-2deoxycytidine439.7BMP6, CAV1, CTGF
9perindopril43 49 1211.7KNG1, TGFB1
10vitamin e succinate439.6BMP6, TGFB1
11pmma439.6BMP6, TGFB1
12agar439.6BMP6, CAV1, CTGF
13cytochalasin d43 5910.6TGFB1, CAV1, CTGF
14hmba439.5BMP6, TGFB1
15carbachol43 28 1211.5KNG1, CAV1, BMP6
16ang ii439.4CTGF, KNG1, TGFB1
17hydroxyproline43 24 1211.4TGFB1, BMP6, CTGF
18enalapril43 49 1211.4KNG1, BMP6
19procollagen439.4CTGF, BMP6, TGFB1
20tgf beta1439.4TGFB1, BMP6, CTGF
21verapamil43 28 49 24 1213.4KNG1, CAV1, TGFB1
22candesartan43 49 28 1212.3TGFB1, KNG1
23rantes439.2TGFB1, CCR6, BMP6
24sodium nitroprusside439.2TGFB1, BMP6, KNG1
25prostacyclin439.2BMP6, CAV1, KNG1, CTGF
26methotrexate49 43 1211.2HLA-DRB1, TGFB1, BMP6
27matrigel439.2CAV1, BMP6, TGFB1
28heparin43 28 24 1212.2CTGF, KNG1, CAV1, BMP6
29aspirin43 49 28 2412.1KNG1, BMP6, TGFB1
30ribonucleic acid439.1CTGF, BMP6, TGFB1
31bleomycin43 1210.1TGFB1, BMP6, CAV1, CTGF
32ly294002439.1TGFB1, BMP6, CAV1, CTGF
33cyclosporin a43 28 5911.1TGFB1, BMP6, CAV1, CTGF
34phosphatidylinositol439.0BMP6, CAV1, KNG1, CTGF
35dexamethasone43 49 28 1212.0TGFB1, BMP6, CAV1, CTGF
36nitric oxide43 24 1211.0CTGF, KNG1, CAV1, BMP6
37losartan43 49 28 1211.9CTGF, KNG1, BMP6, TGFB1
38nifedipine43 28 49 1211.9CTGF, KNG1, BMP6, TGFB1
39sb 20358043 599.9CTGF, BMP6, TGFB1
40pge2438.9TGFB1, BMP6, KNG1, CTGF
41threonine438.9TGFB1, BMP6, CAV1, CTGF
42indomethacin43 28 59 1211.9KNG1, BMP6, TGFB1
43tamoxifen43 49 28 1211.7CAV1, BMP6, TGFB1
44alanine438.7HLA-DRB1, TGFB1, BMP6, CAV1
45oligonucleotide438.6HLA-DRB1, TGFB1, BMP6, CAV1, CTGF
46arginine438.6KNG1, CAV1, FBL, HLA-DRB1
47cycloheximide438.6CTGF, KNG1, CAV1, BMP6, TGFB1
48vegf438.3TGFB1, IRF5, CCR6, BMP6, CAV1, CTGF
49tyrosine438.3HLA-DRB1, IRF5, BMP6, CAV1, KNG1, CTGF
50serine437.8FBL, TGFB1, BMP6, CAV1, KNG1, CTGF

GO Terms for genes affiliated with Diffuse Scleroderma

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Cellular components related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle membraneGO:00306669.7CAV1, HLA-DRB1
2platelet alpha granule lumenGO:00310939.0KNG1, TGFB1
3plasma membraneGO:00058867.7CTGF, HLA-DRB1, TGFB1, CCR6, CAV1, KNG1

Biological processes related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:00329679.8CTGF, TGFB1
2response to progesteroneGO:00325709.8TGFB1, CAV1
3positive regulation of peptidyl-serine phosphorylationGO:00331389.7CAV1, TGFB1
4response to woundingGO:00096119.7CTGF, TGFB1
5negative regulation of T cell proliferationGO:00421309.7TGFB1, HLA-DRB1
6positive regulation of protein secretionGO:00507149.6BMP6, TGFB1
7positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6TGFB1, BMP6
8interferon-gamma-mediated signaling pathwayGO:00603339.6HLA-DRB1, IRF5
9response to glucoseGO:00097499.6CTGF, TGFB1
10positive regulation of bone mineralizationGO:00305019.6TGFB1, BMP6
11T cell costimulationGO:00312959.6CAV1, HLA-DRB1
12positive regulation of epithelial cell proliferationGO:00506799.4TGFB1, BMP6
13immune responseGO:00069559.3HLA-DRB1, CCR6, BMP6
14MAPK cascadeGO:00001659.2CAV1, TGFB1
15positive regulation of apoptotic processGO:00430659.2KNG1, IRF5, TGFB1
16inflammatory responseGO:00069549.0KNG1, BMP6, TGFB1
17blood coagulationGO:00075969.0KNG1, CAV1, TGFB1

Molecular functions related to Diffuse Scleroderma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1growth factor activityGO:00080839.0CTGF, BMP6, TGFB1

Products for genes affiliated with Diffuse Scleroderma

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Sources for Diffuse Scleroderma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet