MCID: OCL020
MIFTS: 53

Ocular Cicatricial Pemphigoid

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Ocular Cicatricial Pemphigoid

MalaCards integrated aliases for Ocular Cicatricial Pemphigoid:

Name: Ocular Cicatricial Pemphigoid 54 50 52 69
Pemphigoid, Benign Mucous Membrane 69
Cicatricial Pemphigoid, Ocular 50
Pemphigoid, Ocular Cicatricial 50
Mucous Membrane Pemphigoid 56
Mucosynechial Pemphigoid 56
Cicatricial Pemphigoid 56
Mucosal Pemphigoid 56

Characteristics:

Orphanet epidemiological data:

56
mucous membrane pemphigoid
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ocular cicatricial pemphigoid:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 164185
Orphanet 56 ORPHA46486
UMLS via Orphanet 70 C0030804
ICD10 via Orphanet 34 L12.1

Summaries for Ocular Cicatricial Pemphigoid

NIH Rare Diseases : 50 ocular cicatricial pemphigoid (ocp) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. in the early stages, people with ocp generally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. if left untreated, ocp can progress to severe conjunctiva scarring and vision loss. involvement of other mucosal sites and the skin may also occur in ocp. the exact underlying cause is currently unknown. the treatment of ocp aims to slow disease progression and prevent complications. this usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. last updated: 6/10/2015

MalaCards based summary : Ocular Cicatricial Pemphigoid, also known as pemphigoid, benign mucous membrane, is related to rheumatoid arthritis and cicatricial pemphigoid, and has symptoms including blindness, gingivitis and corneal opacity. An important gene associated with Ocular Cicatricial Pemphigoid is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs rituximab and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and testes, and related phenotypes are Increased shRNA abundance and cardiovascular system

Description from OMIM: 164185

Related Diseases for Ocular Cicatricial Pemphigoid

Diseases related to Ocular Cicatricial Pemphigoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
id Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 26.2 CD79A CIITA CSF1 HLA-DQB1 HLA-DRB1 IL4
2 cicatricial pemphigoid 10.9
3 primary syringomyelia 10.7 CD36 RNASE3
4 neuropathy, hereditary sensory and autonomic, type v 10.7 NGF NTRK1
5 marasmus 10.6 IL4 NGF RNASE3
6 pseudoainhum 10.6 NGF RNASE3
7 malignant renovascular hypertension 10.5 CD79A NGF
8 cecum adenoma 10.5 NGF NTRK1 RNASE3
9 purpura fulminans 10.5 HLA-DQB1 IL4 RNASE3
10 heart septal defect 10.5 CD79A RNASE3
11 marfan lipodystrophy syndrome 10.5 ACTA2 CD36 TGFBR2
12 pericardium disease 10.5 HLA-DRB1 IL4 TGFB1
13 fruit allergy 10.5 HLA-DQB1 HLA-DRB1
14 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.5 ITGA6 ITGB4
15 breast hemangiopericytoma 10.5 HLA-DQB1 HLA-DRB1
16 non-distal trisomy 10q 10.4 CD36 NTRK1 TGFB1
17 spinal muscular atrophy with respiratory distress type 2 10.4 PRG2 RNASE3
18 apple allergy 10.4 CD79A IL4 RNASE3
19 nervous system cancer 10.4 CD36 CTGF TGFB1
20 loiasis 10.4 CD79A IL4 TGFB1
21 angiomyoma 10.4 CD79A IL4 RNASE3
22 middle lobe syndrome 10.4 CTGF IL4 TGFB1
23 biemond syndrome 10.4 HLA-DQB1 HLA-DRB1 TGFB1
24 mikulicz disease 10.4 CD79A IL4 NGF
25 nut allergy 10.4 CD79A IL4 RNASE3
26 central nervous system origin vertigo 10.4 CD79A IL4 RNASE3
27 dehydration polycythemia 10.4 CD79A IL4 RNASE3
28 light chain deposition disease 10.4 HLA-DQB1 HLA-DRB1
29 transient hypogammaglobulinemia 10.4 CD79A TGFBR2
30 sublingual gland cancer 10.4 CD79A IL4 RNASE3
31 pelvic varices 10.4 CD79A IL4 RNASE3
32 perrault syndrome 10.3 CD36 CTGF TGFB1
33 juvenile sialidosis type 2 10.3 HLA-DQB1 HLA-DRB1
34 diabetic angiopathy 10.3 CD79A IL4
35 uterus interstitial leiomyoma 10.3 CD79A IL4 RNASE3
36 salt and pepper syndrome 10.3 CD36 CTGF SERPINH1 TGFB1
37 premature ovarian failure 12 10.3 CD79A IL4 RNASE3
38 acute chest syndrome 10.3 CD79A IL4 RNASE3
39 subcorneal pustular dermatosis 10.3 CD79A HLA-DQB1 IL4
40 scleroperikeratitis 10.3 NGF NTRK1 TNFRSF1B
41 x-linked intellectual disability, van esch type 10.3 IL4 PRG2 RNASE3
42 hypervitaminosis d 10.2 CD79A HLA-DQB1 IL4
43 diffuse glomerulonephritis 10.2 CD79A CTGF IL4
44 mediastinum neurofibroma 10.2 CD79A IL4 RNASE3
45 uveal epithelioid cell melanoma 10.2 CD79A RNASE3
46 cholera 10.2 CD79A CTGF TGFB1
47 diamond-blackfan anemia 3 10.2 CD36 CTGF SERPINH1 TGFB1
48 fuchs' heterochromic uveitis 10.2 CD79A IL4 NGF RNASE3
49 discoid lupus erythematosus of eyelid 10.2 HLA-DQB1 HLA-DRB1 IL4 TGFB1
50 cataract 10.2

Graphical network of the top 20 diseases related to Ocular Cicatricial Pemphigoid:



Diseases related to Ocular Cicatricial Pemphigoid

Symptoms & Phenotypes for Ocular Cicatricial Pemphigoid

Symptoms via clinical synopsis from OMIM:

54

Eyes:
ocular dominance


Clinical features from OMIM:

164185

Human phenotypes related to Ocular Cicatricial Pemphigoid:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blindness 56 32 occasional (7.5%) Occasional (29-5%) HP:0000618
2 gingivitis 56 32 frequent (33%) Frequent (79-30%) HP:0000230
3 corneal opacity 56 32 occasional (7.5%) Occasional (29-5%) HP:0007957
4 atypical scarring of skin 56 32 frequent (33%) Frequent (79-30%) HP:0000987
5 autoimmunity 56 32 hallmark (90%) Very frequent (99-80%) HP:0002960
6 oral mucosal blisters 56 32 hallmark (90%) Very frequent (99-80%) HP:0200097
7 abnormality of the eye 32 HP:0000478
8 abnormal blistering of the skin 56 Occasional (29-5%)

GenomeRNAi Phenotypes related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 SERPINH1 CD36 CD79A HLA-DQB1 IL4

MGI Mouse Phenotypes related to Ocular Cicatricial Pemphigoid:

44 (show all 20)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 ACTA2 CD36 CSF1 CTGF HLA-DQB1 ITGA6
2 cellular MP:0005384 10.36 CD36 CD79A CSF1 CTGF HLA-DQB1 IL4
3 growth/size/body region MP:0005378 10.36 CD36 CSF1 CTGF HLA-DQB1 IL4 ITGA6
4 hematopoietic system MP:0005397 10.34 IL4 ITGA6 MIF NTRK1 PRG2 TGFB1
5 immune system MP:0005387 10.34 MIF NTRK1 PRG2 TGFB1 TGFBR2 TNFRSF1B
6 homeostasis/metabolism MP:0005376 10.32 CD36 CD79A CIITA CSF1 CTGF HLA-DQB1
7 digestive/alimentary MP:0005381 10.27 CD36 CTGF HLA-DQB1 IL4 ITGA6 TGFBR2
8 mortality/aging MP:0010768 10.25 CTGF HLA-DQB1 IL4 ITGA6 ITGB4 NGF
9 craniofacial MP:0005382 10.23 CSF1 CTGF IL4 ITGA6 ITGB4 SERPINH1
10 endocrine/exocrine gland MP:0005379 10.21 ITGA6 TGFB1 TGFBR2 TNFRSF1B CD36 CIITA
11 nervous system MP:0003631 10.21 CD36 CD79A CSF1 HLA-DQB1 IL4 ITGA6
12 integument MP:0010771 10.13 NGF NTRK1 TGFB1 TNFRSF1B CSF1 CTGF
13 liver/biliary system MP:0005370 10.06 CD36 CD79A CSF1 HLA-DQB1 IL4 TGFB1
14 muscle MP:0005369 10.06 ACTA2 CD36 CSF1 HLA-DQB1 NGF NTRK1
15 hearing/vestibular/ear MP:0005377 10.01 CSF1 CTGF ITGA6 ITGB4 MIF NTRK1
16 normal MP:0002873 9.97 CD79A CIITA CTGF HLA-DQB1 IL4 MIF
17 respiratory system MP:0005388 9.9 CSF1 CTGF HLA-DQB1 IL4 ITGA6 ITGB4
18 renal/urinary system MP:0005367 9.86 CD36 CD79A HLA-DQB1 IL4 ITGA6 ITGB4
19 skeleton MP:0005390 9.61 CD36 CIITA CSF1 CTGF IL4 SERPINH1
20 vision/eye MP:0005391 9.4 CSF1 CTGF IL4 ITGA6 ITGB4 NGF

Drugs & Therapeutics for Ocular Cicatricial Pemphigoid

Drugs for Ocular Cicatricial Pemphigoid (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 3,Phase 1,Phase 2 174722-31-7 10201696
2 Immunosuppressive Agents Phase 3
3 Alkylating Agents Phase 3
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
5
Riboflavin Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 83-88-5 493570
6 Antirheumatic Agents Phase 1, Phase 2
7 Dermatologic Agents Phase 1, Phase 2
8 Micronutrients Phase 1, Phase 2
9 Pharmaceutical Solutions Phase 1, Phase 2
10 Photosensitizing Agents Phase 1, Phase 2
11 Trace Elements Phase 1, Phase 2
12 Vitamin B Complex Phase 1, Phase 2
13 Vitamins Phase 1, Phase 2
14 Folate Nutraceutical Phase 1, Phase 2
15 Vitamin B2 Nutraceutical Phase 1, Phase 2
16 Vitamin B9 Nutraceutical Phase 1, Phase 2
17 Antibodies Phase 1
18 Immunoglobulins Phase 1
19 Autoantibodies

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Randomized Clinical Trial Comparing the Safety and Efficacy of Rituximab Versus Oral Cyclophosphamide in Severe Forms of Mucous Membrane Pemphigoid Not yet recruiting NCT03295383 Phase 3 Rituximab 1g IV;Cyclophosphamide 50Mg Oral Tablet;Placebo of Rituximab;Placebo Oral Tablet
2 Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2 Rituximab
3 Use of Cross-linked Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
4 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
5 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
6 The Improvement of Limbal Epithelial Culture Technique by Using Collagenase to Isolate Limbal Stem Cells Unknown status NCT02202642 Phase 1
7 Subconjunctival IVIg (Gamunex-C) Injection for Corneal Neovascularization and Inflammatory Conditions Withdrawn NCT02042027 Phase 1 Gamunex-C
8 Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Completed NCT00116090
9 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
10 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Enrolling by invitation NCT00357071

Search NIH Clinical Center for Ocular Cicatricial Pemphigoid

Genetic Tests for Ocular Cicatricial Pemphigoid

Anatomical Context for Ocular Cicatricial Pemphigoid

MalaCards organs/tissues related to Ocular Cicatricial Pemphigoid:

39
Eye, Skin, Testes, Neutrophil, T Cells

Publications for Ocular Cicatricial Pemphigoid

Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 144)
id Title Authors Year
1
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. ( 28509683 )
2017
2
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. ( 28154932 )
2017
3
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
4
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
5
NGF Modulates trkANGFR/p75NTR in I+SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
6
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
7
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
8
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
9
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
10
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
11
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
12
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
13
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
14
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
15
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
16
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
17
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
18
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
19
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
20
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
21
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
22
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
23
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
24
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
25
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
26
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. ( 19641634 )
2009
27
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009
28
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. ( 19770718 )
2009
29
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. ( 18724167 )
2008
30
Ocular cicatricial pemphigoid. ( 18762085 )
2008
31
Exacerbation of undiagnosed ocular cicatricial pemphigoid after repair of involutional entropion. ( 18356734 )
2008
32
Corneal ulcer as an atypical presentation of ocular cicatricial pemphigoid. ( 17294392 )
2007
33
Tumour necrosis factor-alpha in conjunctivae affected by ocular cicatricial pemphigoid. ( 17488321 )
2007
34
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 17179127 )
2007
35
Treatment of ocular cicatricial pemphigoid with the tumour necrosis factor alpha antagonist etanercept. ( 17225020 )
2007
36
Conjunctival mucoepidermoid carcinoma in a patient with ocular cicatricial pemphigoid and a review of the literature. ( 16950250 )
2006
37
Ocular cicatricial pemphigoid. ( 16954792 )
2006
38
In vivo confocal microscopy of ocular cicatricial pemphigoid. ( 16583645 )
2006
39
Dapsone induced haemolytic anaemia in patients treated for ocular cicatricial pemphigoid. ( 16547343 )
2006
40
Ocular cicatricial pemphigoid: manifestations and management. ( 15967079 )
2005
41
Blood group related antigens in ocular cicatricial pemphigoid. ( 15377543 )
2004
42
Intravenous immunoglobulin therapy in patients with ocular-cicatricial pemphigoid: a long-term follow-up. ( 15234140 )
2004
43
A new method for measuring progression in patients with ocular cicatricial pemphigoid. ( 14769592 )
2004
44
Ocular cicatricial pemphigoid review. ( 15349045 )
2004
45
Role of macrophage migration inhibitory factor in conjunctival pathology in ocular cicatricial pemphigoid. ( 15037585 )
2004
46
Ocular cicatricial pemphigoid, keratomycosis, and intravenous immunoglobulin therapy. ( 15502484 )
2004
47
Ocular cicatricial pemphigoid: pathogenesis, diagnosis and treatment. ( 15388075 )
2004
48
Role of collagen-binding heat shock protein 47 and transforming growth factor-beta1 in conjunctival scarring in ocular cicatricial pemphigoid. ( 12657600 )
2003
49
Role of connective tissue growth factor in the pathogenesis of conjunctival scarring in ocular cicatricial pemphigoid. ( 12714635 )
2003
50
Amniotic membrane transplantation elicits goblet cell repopulation after conjunctival reconstruction in a case of severe ocular cicatricial pemphigoid. ( 12631023 )
2003

Variations for Ocular Cicatricial Pemphigoid

Expression for Ocular Cicatricial Pemphigoid

Search GEO for disease gene expression data for Ocular Cicatricial Pemphigoid.

Pathways for Ocular Cicatricial Pemphigoid

Pathways related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

(show all 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 CD36 CD79A CIITA CSF1 HLA-DQB1 HLA-DRB1
2
Show member pathways
13.72 ACTA2 CSF1 CTGF IL4 ITGA6 ITGB4
3
Show member pathways
13.6 ACTA2 CD79A CTGF HLA-DQB1 HLA-DRB1 ITGA6
4
Show member pathways
13.46 CTGF IL4 ITGA6 ITGB4 NGF NTRK1
5
Show member pathways
13.26 CD36 CIITA CSF1 HLA-DQB1 HLA-DRB1 IL4
6
Show member pathways
13.17 ACTA2 CSF1 CTGF IL4 ITGA6 ITGB4
7
Show member pathways
13.12 ACTA2 CSF1 CTGF IL4 NGF NTRK1
8
Show member pathways
12.93 ACTA2 HLA-DQB1 HLA-DRB1 ITGA6 ITGB4 NTRK1
9
Show member pathways
12.77 ACTA2 ITGA6 ITGB4 NTRK1 TGFB1 TGFBR2
10
Show member pathways
12.65 CIITA HLA-DQB1 HLA-DRB1 IL4 PRG2 RNASE3
11
Show member pathways
12.57 CD79A HLA-DQB1 HLA-DRB1 IL4 TNFRSF1B
12
Show member pathways
12.51 HLA-DQB1 HLA-DRB1 IL4 TGFB1 TGFBR2
13
Show member pathways
12.5 ACTA2 CD79A CTGF ITGA6 ITGB4 NGF
14 12.36 HLA-DQB1 HLA-DRB1 TGFB1 TGFBR2
15 12.15 CIITA HLA-DQB1 HLA-DRB1 TGFB1
16 11.91 CD36 CD79A CSF1 IL4
17
Show member pathways
11.9 CIITA HLA-DQB1 HLA-DRB1 IL4 ITGA6 TGFB1
18 11.88 CD36 IL4 TGFB1 TNFRSF1B
19
Show member pathways
11.84 IL4 TGFB1 TGFBR2
20 11.77 CSF1 HLA-DQB1 HLA-DRB1 TGFB1
21 11.65 CD36 IL4 TGFB1
22
Show member pathways
11.64 ITGA6 ITGB4 TGFB1
23 11.6 CTGF ITGA6 ITGB4 NGF NTRK1 TGFB1
24 11.59 CTGF IL4 TGFB1
25 11.48 CTGF TGFB1 TGFBR2
26 11.45 CSF1 IL4 TNFRSF1B
27 11.09 CD36 CSF1 HLA-DQB1 HLA-DRB1 IL4 ITGA6
28 11.03 CSF1 HLA-DRB1 IL4 TGFB1
29 10.96 IL4 TGFB1 TGFBR2
30 10.82 IL4 TGFB1
31
Show member pathways
10.68 NGF NTRK1

GO Terms for Ocular Cicatricial Pemphigoid

Cellular components related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 ACTA2 CD36 CSF1 CTGF IL4 MIF
2 endocytic vesicle membrane GO:0030666 9.58 CD36 HLA-DQB1 HLA-DRB1
3 membrane raft GO:0045121 9.55 CD36 CD79A SERPINH1 TGFBR2 TNFRSF1B
4 receptor complex GO:0043235 9.43 ITGB4 NTRK1 TGFBR2
5 external side of plasma membrane GO:0009897 9.43 CD36 CD79A HLA-DRB1 IL4 ITGA6 TGFBR2
6 hemidesmosome GO:0030056 9.37 ITGA6 ITGB4
7 cell surface GO:0009986 9.28 CD36 CIITA HLA-DRB1 ITGA6 ITGB4 MIF
8 extracellular region GO:0005576 10.09 CSF1 CTGF IL4 MIF NGF PRG2

Biological processes related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.96 CIITA CSF1 MIF TGFB1 TNFRSF1B
2 regulation of cell proliferation GO:0042127 9.93 MIF TGFB1 TGFBR2 TNFRSF1B
3 negative regulation of gene expression GO:0010629 9.88 CD36 CTGF MIF TGFB1
4 response to wounding GO:0009611 9.8 CTGF ITGB4 TGFB1
5 response to organic cyclic compound GO:0014070 9.8 CTGF IL4 TGFB1 TGFBR2
6 response to glucose GO:0009749 9.79 CTGF TGFB1 TGFBR2
7 interferon-gamma-mediated signaling pathway GO:0060333 9.79 CIITA HLA-DQB1 HLA-DRB1
8 B cell differentiation GO:0030183 9.78 CD79A IL4 NTRK1
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.77 CD36 CTGF MIF NTRK1 TGFB1
10 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 CD36 IL4 MIF TGFB1
11 cellular response to growth factor stimulus GO:0071363 9.72 NTRK1 TGFB1 TNFRSF1B
12 positive regulation of gene expression GO:0010628 9.72 ACTA2 CSF1 CTGF NGF TGFB1
13 immune response GO:0006955 9.7 CD36 CIITA HLA-DQB1 HLA-DRB1 IL4 PRG2
14 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.66 HLA-DQB1 HLA-DRB1
15 pathway-restricted SMAD protein phosphorylation GO:0060389 9.65 TGFB1 TGFBR2
16 positive regulation of protein phosphorylation GO:0001934 9.65 CTGF IL4 MIF NTRK1 TGFB1
17 hemidesmosome assembly GO:0031581 9.63 ITGA6 ITGB4
18 positive regulation of Ras protein signal transduction GO:0046579 9.61 CSF1 NGF NTRK1
19 response to cholesterol GO:0070723 9.6 TGFB1 TGFBR2
20 amelogenesis GO:0097186 9.59 ITGA6 ITGB4
21 positive regulation of MHC class II biosynthetic process GO:0045348 9.58 CIITA IL4
22 myeloid dendritic cell differentiation GO:0043011 9.58 IL4 TGFB1 TGFBR2
23 nail development GO:0035878 9.57 ITGA6 ITGB4
24 common-partner SMAD protein phosphorylation GO:0007182 9.54 TGFB1 TGFBR2
25 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.52 HLA-DQB1 HLA-DRB1
26 positive regulation of mononuclear cell migration GO:0071677 9.51 IL4 TGFB1
27 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DQB1 HLA-DRB1
28 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.35 IL4
29 digestive tract development GO:0048565 9.26 ITGA6 ITGB4 TGFB1 TGFBR2
30 aging GO:0007568 9.1 CIITA CTGF NTRK1 TGFB1 TGFBR2 TNFRSF1B
31 positive regulation of cell proliferation GO:0008284 10.05 CSF1 CTGF IL4 TGFB1 TGFBR2
32 neutrophil degranulation GO:0043312 10.04 CD36 MIF PRG2 RNASE3 TNFRSF1B
33 immune system process GO:0002376 10.04 CD79A CSF1 HLA-DRB1 MIF PRG2

Molecular functions related to Ocular Cicatricial Pemphigoid according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 CSF1 IL4 MIF TGFB1
2 insulin-like growth factor I binding GO:0031994 9.37 ITGA6 ITGB4
3 MHC class II receptor activity GO:0032395 9.32 HLA-DQB1 HLA-DRB1
4 type I transforming growth factor beta receptor binding GO:0034713 9.26 TGFB1 TGFBR2
5 growth factor activity GO:0008083 9.02 CSF1 CTGF IL4 NGF TGFB1
6 neuregulin binding GO:0038132 8.96 ITGA6 ITGB4

Sources for Ocular Cicatricial Pemphigoid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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