MCID: OCL020
MIFTS: 57

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 57 53 55 73
Pemphigoid, Benign Mucous Membrane 73
Cicatricial Pemphigoid, Ocular 53
Pemphigoid, Ocular Cicatricial 53
Mucous Membrane Pemphigoid 59
Mucosynechial Pemphigoid 59
Cicatricial Pemphigoid 59
Mucosal Pemphigoid 59
Ocp 57

Characteristics:

Orphanet epidemiological data:

59
mucous membrane pemphigoid
Inheritance: Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ocular cicatricial pemphigoid:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 164185
Orphanet 59 ORPHA46486
UMLS via Orphanet 74 C0030804
ICD10 via Orphanet 34 L12.1
MedGen 42 C1282359
UMLS 73 C1282359

Summaries for Ocular Cicatricial Pemphigoid

NIH Rare Diseases : 53 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.

MalaCards based summary : Ocular Cicatricial Pemphigoid, also known as pemphigoid, benign mucous membrane, is related to cicatricial pemphigoid and atopic keratoconjunctivitis. 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 Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and neutrophil, and related phenotypes are gingivitis and blindness

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 103)
# Related Disease Score Top Affiliating Genes
1 cicatricial pemphigoid 30.4 CD79A ITGA6 ITGB4 SERPINH1 TNFRSF1B
2 atopic keratoconjunctivitis 30.2 IL4 PRG2 RNASE3
3 keratoconjunctivitis 30.1 CD79A IL4 NGF RNASE3
4 bullous pemphigoid 28.6 CD79A HLA-DQB1 HLA-DRB1 ITGA6 ITGB4 RNASE3
5 arthritis 27.5 CIITA CSF1 HLA-DQB1 HLA-DRB1 MIF TNFRSF1B
6 rheumatoid arthritis 25.6 CD79A CIITA CSF1 HLA-DQB1 HLA-DRB1 IL4
7 neuropathy, hereditary sensory and autonomic, type v 10.8 NGF NTRK1
8 fibromatosis, gingival, 1 10.8 CD36 SERPINH1 TGFB1
9 juvenile myasthenia gravis 10.7 HLA-DRB1 TGFB1
10 eosinophilic granuloma 10.7 CD36 RNASE3
11 prurigo nodularis 10.7 NGF RNASE3
12 cough variant asthma 10.7 IL4 NGF RNASE3
13 limbic encephalitis with lgi1 antibodies 10.7 HLA-DQB1 HLA-DRB1
14 neuroschistosomiasis 10.6 CD79A NGF
15 conjunctival nevus 10.6 NGF NTRK1 RNASE3
16 chronic interstitial cystitis 10.6 CD79A RNASE3
17 latex allergy 10.6 HLA-DQB1 IL4 RNASE3
18 epidermolysis bullosa with pyloric atresia 10.5 ITGA6 ITGB4
19 leukoregulin 10.5 CSF1 TGFB1
20 rheumatic heart disease 10.5 HLA-DRB1 IL4 TGFB1
21 metal allergy 10.5 HLA-DQB1 HLA-DRB1
22 differentiated thyroid carcinoma 10.5 CD36 NTRK1 TGFB1
23 focal epithelial hyperplasia 10.5 HLA-DQB1 HLA-DRB1
24 hypersomnia 10.5 HLA-DQB1 HLA-DRB1
25 eosinophilic colitis 10.5 PRG2 RNASE3
26 lichen planopilaris 10.4 HLA-DQB1 HLA-DRB1
27 gingival overgrowth 10.4 CD36 CTGF TGFB1
28 transient hypogammaglobulinemia of infancy 10.4 CD79A TGFBR2
29 gastrointestinal allergy 10.4 CD79A IL4 RNASE3
30 paranasal sinus disease 10.4 CD79A IL4 TGFB1
31 idiopathic interstitial pneumonia 10.4 CTGF IL4 TGFB1
32 type ii mixed cryoglobulinemia 10.4 HLA-DQB1 HLA-DRB1
33 conjunctival disease 10.4 CD79A IL4 RNASE3
34 keratoconjunctivitis sicca 10.4 CD79A IL4 NGF
35 milk allergy 10.4 CD79A IL4 RNASE3
36 beryllium disease 10.4 HLA-DQB1 HLA-DRB1 TGFB1
37 vernal conjunctivitis 10.4 CD79A IL4 RNASE3
38 linear iga disease 10.4 CD79A ITGB4
39 nose disease 10.4 CD79A IL4 RNASE3
40 parasitic helminthiasis infectious disease 10.4 CD79A IL4 RNASE3
41 upper respiratory tract disease 10.4 CD79A IL4 RNASE3
42 renal fibrosis 10.4 CD36 CTGF TGFB1
43 rubella 10.3 HLA-DQB1 HLA-DRB1 IL4
44 anisakiasis 10.3 CD79A RNASE3
45 immunoglobulin a deficiency 1 10.3 CD79A IL4
46 severe cutaneous adverse reaction 10.3
47 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.3
48 schistosomiasis 10.3 CD79A IL4 RNASE3
49 microscopic colitis 10.3 CD79A HLA-DRB1 IL4
50 gingival fibromatosis 10.3 CD36 CTGF SERPINH1 TGFB1

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:

57
Eyes:
ocular dominance


Clinical features from OMIM:

164185

Human phenotypes related to Ocular Cicatricial Pemphigoid:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000230
2 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
3 atypical scarring of skin 59 32 frequent (33%) Frequent (79-30%) HP:0000987
4 autoimmunity 59 32 hallmark (90%) Very frequent (99-80%) HP:0002960
5 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
6 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
7 abnormal blistering of the skin 59 Occasional (29-5%)
8 abnormality of the eye 32 HP:0000478

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

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

MGI Mouse Phenotypes related to Ocular Cicatricial Pemphigoid:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 CTGF ACTA2 CD36 CSF1 ITGB4 SERPINH1
2 cellular MP:0005384 10.36 CD79A CD36 CSF1 ITGB4 MIF HLA-DQB1
3 growth/size/body region MP:0005378 10.36 CTGF CD36 CSF1 NGF NTRK1 ITGB4
4 hematopoietic system MP:0005397 10.34 CD79A CIITA CD36 CSF1 NTRK1 PRG2
5 immune system MP:0005387 10.34 CD79A CIITA CD36 CSF1 ITGB4 NTRK1
6 homeostasis/metabolism MP:0005376 10.32 CSF1 CD79A CIITA CD36 NGF ITGB4
7 digestive/alimentary MP:0005381 10.27 CTGF CD36 TGFB1 ITGB4 SERPINH1 IL4
8 endocrine/exocrine gland MP:0005379 10.26 CIITA CD36 CSF1 HLA-DQB1 ITGA6 CTGF
9 mortality/aging MP:0010768 10.25 CD36 CSF1 NGF NTRK1 ITGB4 SERPINH1
10 craniofacial MP:0005382 10.23 CTGF CSF1 TGFB1 ITGB4 SERPINH1 ITGA6
11 nervous system MP:0003631 10.21 CD79A CD36 CSF1 TGFB1 ITGB4 NTRK1
12 integument MP:0010771 10.13 CSF1 NGF NTRK1 ITGB4 ITGA6 CTGF
13 liver/biliary system MP:0005370 10.11 CD79A CTGF CD36 CSF1 IL4 HLA-DQB1
14 muscle MP:0005369 10.06 ACTA2 CD36 CSF1 NTRK1 NGF HLA-DQB1
15 hearing/vestibular/ear MP:0005377 10.01 CSF1 NTRK1 ITGB4 MIF ITGA6 CTGF
16 normal MP:0002873 9.97 CD79A CIITA NGF NTRK1 MIF HLA-DQB1
17 respiratory system MP:0005388 9.9 CTGF CSF1 ITGB4 PRG2 SERPINH1 TGFB1
18 renal/urinary system MP:0005367 9.86 CD79A CD36 ITGB4 HLA-DQB1 ITGA6 IL4
19 skeleton MP:0005390 9.61 CD36 CSF1 CIITA SERPINH1 CTGF IL4
20 vision/eye MP:0005391 9.4 CTGF ACTA2 CD36 CSF1 NTRK1 NGF

Drugs & Therapeutics for Ocular Cicatricial Pemphigoid

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial Evaluating Rituximab in Ocular Cicatricial Pemphigoid Completed NCT00584935 Phase 1, Phase 2 Rituximab
2 Use of Cross-linked Donor Corneas as Carriers for the Boston Keratoprosthesis Completed NCT01582880 Phase 1, Phase 2 Riboflavin
3 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
4 Subconjunctival IVIg (Gamunex-C) Injection for Corneal Neovascularization and Inflammatory Conditions Withdrawn NCT02042027 Phase 1 Gamunex-C
5 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
6 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Enrolling by invitation NCT00357071
7 Implantable Intraocular Pressure Sensor for Glaucoma Monitoring in Patients With Boston Keratoprosthesis Type 1 Withdrawn NCT03421548 Not Applicable

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:

41
Skin, Eye, Neutrophil, Testes, T Cells

Publications for Ocular Cicatricial Pemphigoid

Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 148)
# Title Authors Year
1
Management of Ocular Cicatricial Pemphigoid with Intravenous Immunoglobulin Monotherapy. ( 29517945 )
2018
2
Atopy in Patients With Ocular Cicatricial Pemphigoid. ( 29341971 )
2018
3
Adrenocorticotropic hormone analogue as novel treatment regimen in ocular cicatricial pemphigoid. ( 29780948 )
2018
4
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. ( 28154932 )
2017
5
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. ( 28509683 )
2017
6
Long-term remission of ocular cicatricial pemphigoid off immunomodulatory therapy. ( 29077176 )
2017
7
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
8
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
9
NGF Modulates trkANGFR/p75NTR in I+SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
10
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
11
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
12
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
13
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
14
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
15
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
16
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
17
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
18
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
19
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
20
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
21
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
22
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
23
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
24
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
25
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
26
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
27
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
28
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
29
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. ( 19641634 )
2009
30
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009
31
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
32
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. ( 19770718 )
2009
33
Exacerbation of undiagnosed ocular cicatricial pemphigoid after repair of involutional entropion. ( 18356734 )
2008
34
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. ( 18724167 )
2008
35
Ocular cicatricial pemphigoid. ( 18762085 )
2008
36
Treatment of ocular cicatricial pemphigoid with the tumour necrosis factor alpha antagonist etanercept. ( 17225020 )
2007
37
Corneal ulcer as an atypical presentation of ocular cicatricial pemphigoid. ( 17294392 )
2007
38
Tumour necrosis factor-alpha in conjunctivae affected by ocular cicatricial pemphigoid. ( 17488321 )
2007
39
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 17179127 )
2007
40
Ocular cicatricial pemphigoid. ( 16954792 )
2006
41
In vivo confocal microscopy of ocular cicatricial pemphigoid. ( 16583645 )
2006
42
Conjunctival mucoepidermoid carcinoma in a patient with ocular cicatricial pemphigoid and a review of the literature. ( 16950250 )
2006
43
Dapsone induced haemolytic anaemia in patients treated for ocular cicatricial pemphigoid. ( 16547343 )
2006
44
Ocular cicatricial pemphigoid: manifestations and management. ( 15967079 )
2005
45
Ocular cicatricial pemphigoid, keratomycosis, and intravenous immunoglobulin therapy. ( 15502484 )
2004
46
Intravenous immunoglobulin therapy in patients with ocular-cicatricial pemphigoid: a long-term follow-up. ( 15234140 )
2004
47
Ocular cicatricial pemphigoid: pathogenesis, diagnosis and treatment. ( 15388075 )
2004
48
Role of macrophage migration inhibitory factor in conjunctival pathology in ocular cicatricial pemphigoid. ( 15037585 )
2004
49
Ocular cicatricial pemphigoid review. ( 15349045 )
2004
50
A new method for measuring progression in patients with ocular cicatricial pemphigoid. ( 14769592 )
2004

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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 CD36 CD79A CIITA CSF1 HLA-DQB1 HLA-DRB1
2
Show member pathways
13.68 ACTA2 CSF1 CTGF IL4 ITGA6 ITGB4
3
Show member pathways
13.59 ACTA2 CD79A CTGF HLA-DQB1 HLA-DRB1 ITGA6
4
Show member pathways
13.38 CTGF IL4 ITGA6 ITGB4 NGF NTRK1
5
Show member pathways
13.28 CD36 CIITA CSF1 HLA-DQB1 HLA-DRB1 IL4
6
Show member pathways
13.21 ACTA2 CSF1 CTGF IL4 ITGA6 ITGB4
7
Show member pathways
13.12 ACTA2 CSF1 CTGF IL4 NGF NTRK1
8
Show member pathways
12.91 CSF1 IL4 ITGA6 ITGB4 NGF NTRK1
9
Show member pathways
12.87 ACTA2 HLA-DQB1 HLA-DRB1 ITGA6 ITGB4 NTRK1
10
Show member pathways
12.79 ACTA2 ITGA6 ITGB4 NTRK1 TGFB1 TGFBR2
11 12.76 IL4 ITGA6 NTRK1 TGFB1 TGFBR2
12 12.69 CSF1 NGF NTRK1 TGFB1 TGFBR2
13
Show member pathways
12.66 CIITA HLA-DQB1 HLA-DRB1 IL4 PRG2 RNASE3
14
Show member pathways
12.5 ACTA2 CD79A CTGF ITGA6 ITGB4 NGF
15 12.35 HLA-DQB1 HLA-DRB1 TGFB1 TGFBR2
16
Show member pathways
12.34 HLA-DQB1 HLA-DRB1 IL4 TGFB1 TGFBR2
17 12.17 CIITA HLA-DQB1 HLA-DRB1 TGFB1
18
Show member pathways
11.95 CTGF IL4 NGF TGFB1 TGFBR2 TNFRSF1B
19 11.91 CD36 CD79A CSF1 IL4
20
Show member pathways
11.9 CIITA HLA-DQB1 HLA-DRB1 IL4 ITGA6 TGFB1
21 11.89 CD36 IL4 TGFB1 TNFRSF1B
22 11.77 CSF1 HLA-DQB1 HLA-DRB1 TGFB1
23
Show member pathways
11.62 ITGA6 ITGB4 TGFB1
24 11.59 CTGF IL4 TGFB1
25 11.48 CTGF TGFB1 TGFBR2
26 11.46 CSF1 IL4 TNFRSF1B
27 11.09 CD36 CSF1 HLA-DQB1 HLA-DRB1 IL4 ITGA6
28 11.03 CSF1 HLA-DRB1 IL4 TGFB1
29
Show member pathways
10.67 NGF NTRK1

GO Terms for Ocular Cicatricial Pemphigoid

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.65 CD36 CD79A HLA-DRB1 ITGA6 TGFBR2
2 extracellular space GO:0005615 9.65 ACTA2 CD36 CSF1 CTGF IL4 MIF
3 receptor complex GO:0043235 9.62 CD36 ITGB4 NTRK1 TGFBR2
4 endocytic vesicle membrane GO:0030666 9.58 CD36 HLA-DQB1 HLA-DRB1
5 membrane raft GO:0045121 9.55 CD36 CD79A SERPINH1 TGFBR2 TNFRSF1B
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 35)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.95 CIITA CSF1 MIF TGFB1 TNFRSF1B
2 regulation of cell proliferation GO:0042127 9.94 MIF TGFB1 TGFBR2 TNFRSF1B
3 negative regulation of gene expression GO:0010629 9.89 CD36 CTGF MIF TGFB1
4 cytokine-mediated signaling pathway GO:0019221 9.88 CD36 CSF1 IL4 TGFB1 TNFRSF1B
5 regulation of signaling receptor activity GO:0010469 9.88 CSF1 CTGF IL4 MIF NGF TGFB1
6 cell-matrix adhesion GO:0007160 9.83 CTGF ITGA6 ITGB4
7 integrin-mediated signaling pathway GO:0007229 9.83 CTGF ITGA6 ITGB4
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 CD36 CTGF MIF NTRK1 TGFB1
9 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.82 CD36 MIF TGFB1
10 positive regulation of protein phosphorylation GO:0001934 9.81 CTGF MIF NTRK1 TGFB1
11 positive regulation of gene expression GO:0010628 9.8 ACTA2 CD36 CSF1 CTGF NGF TGFB1
12 response to glucose GO:0009749 9.79 CTGF TGFB1 TGFBR2
13 response to wounding GO:0009611 9.77 CTGF ITGB4 TGFB1
14 B cell differentiation GO:0030183 9.76 CD79A IL4 NTRK1
15 interferon-gamma-mediated signaling pathway GO:0060333 9.75 CIITA HLA-DQB1 HLA-DRB1
16 cellular response to growth factor stimulus GO:0071363 9.71 NTRK1 TGFB1 TNFRSF1B
17 immune response GO:0006955 9.7 CD36 CIITA HLA-DQB1 HLA-DRB1 IL4 PRG2
18 neurotrophin TRK receptor signaling pathway GO:0048011 9.67 NGF NTRK1
19 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.65 HLA-DQB1 HLA-DRB1
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.65 TGFB1 TGFBR2
21 nerve growth factor signaling pathway GO:0038180 9.63 NGF NTRK1
22 hemidesmosome assembly GO:0031581 9.63 ITGA6 ITGB4
23 response to cholesterol GO:0070723 9.61 TGFB1 TGFBR2
24 amelogenesis GO:0097186 9.61 ITGA6 ITGB4
25 positive regulation of MHC class II biosynthetic process GO:0045348 9.57 CIITA IL4
26 nail development GO:0035878 9.56 ITGA6 ITGB4
27 positive regulation of Ras protein signal transduction GO:0046579 9.54 CSF1 NGF NTRK1
28 common-partner SMAD protein phosphorylation GO:0007182 9.52 TGFB1 TGFBR2
29 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.49 HLA-DQB1 HLA-DRB1
30 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.46 HLA-DQB1 HLA-DRB1
31 myeloid dendritic cell differentiation GO:0043011 9.43 IL4 TGFB1 TGFBR2
32 digestive tract development GO:0048565 9.26 ITGA6 ITGB4 TGFB1 TGFBR2
33 aging GO:0007568 9.1 CIITA CTGF NTRK1 TGFB1 TGFBR2 TNFRSF1B
34 immune system process GO:0002376 10.06 CD79A CSF1 HLA-DRB1 MIF PRG2
35 neutrophil degranulation GO:0043312 10.02 CD36 MIF PRG2 RNASE3 TNFRSF1B

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....