OCP
MCID: OCL020
MIFTS: 59

Ocular Cicatricial Pemphigoid (OCP)

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ocular Cicatricial Pemphigoid

MalaCards integrated aliases for Ocular Cicatricial Pemphigoid:

Name: Ocular Cicatricial Pemphigoid 57 53 59 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:



External Ids:

OMIM 57 164185
UMLS via Orphanet 74 C0030804 C0157721
ICD10 via Orphanet 34 L12.1 L12+ H13.3*
MedGen 42 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 linear iga disease. 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 t cells, and related phenotypes are corneal opacity 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 158)
# Related Disease Score Top Affiliating Genes
1 cicatricial pemphigoid 31.5 TNFRSF1B SERPINH1 ITGB4 ITGA6 CD79A
2 linear iga disease 30.9 ITGB4 CD79A
3 keratoconjunctivitis 30.3 RNASE3 NGF IL4
4 atopic keratoconjunctivitis 30.1 RNASE3 PRG2 IL4
5 bullous pemphigoid 29.9 RNASE3 ITGB4 ITGA6 HLA-DRB1 HLA-DQB1 CD79A
6 connective tissue disease 29.8 SERPINH1 HLA-DRB1 CCN2 ACTA2
7 systemic lupus erythematosus 29.5 TNFRSF1B TGFB1 IL4 HLA-DRB1 HLA-DQB1 CSF1
8 autoimmune disease 29.4 TNFRSF1B IL4 HLA-DRB1 HLA-DQB1 CIITA CD79A
9 arthritis 29.2 TNFRSF1B TGFB1 MIF HLA-DRB1 HLA-DQB1 CSF1
10 rheumatoid arthritis 29.0 TNFRSF1B TGFB1 SERPINH1 MIF IL4 HLA-DRB1
11 brunsting-perry syndrome 11.8
12 epidermolysis bullosa 10.5
13 epidermolysis bullosa acquisita 10.5
14 severe cutaneous adverse reaction 10.5
15 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.5
16 lichen planus 10.4
17 cataract 10.4
18 entropion 10.3
19 oral lichen planus 10.3
20 graft-versus-host disease 10.3
21 gingivitis 10.3
22 juvenile myasthenia gravis 10.2 TGFB1 HLA-DRB1
23 fibromatosis, gingival, 1 10.2 TGFB1 SERPINH1 CD36
24 limbic encephalitis with lgi1 antibodies 10.2 HLA-DRB1 HLA-DQB1
25 leukemia 10.2
26 narcolepsy 2 10.2 HLA-DRB1 HLA-DQB1
27 gingival fibromatosis 10.2 TGFB1 SERPINH1 CD36
28 autoimmune polyglandular syndrome type 3 10.2 HLA-DRB1 HLA-DQB1
29 keratoconjunctivitis sicca 10.2 NGF IL4 CD79A
30 eosinophilic granuloma 10.2 RNASE3 CD36
31 pemphigus vulgaris, familial 10.2
32 pemphigus vulgaris 10.2
33 conjunctivitis 10.2
34 pemphigus 10.2
35 hypersomnia 10.2 HLA-DRB1 HLA-DQB1
36 prurigo nodularis 10.2 RNASE3 NGF
37 type ii mixed cryoglobulinemia 10.2 HLA-DRB1 HLA-DQB1
38 epidermolysis bullosa with pyloric atresia 10.2 ITGB4 ITGA6
39 rheumatic heart disease 10.2 TGFB1 IL4 HLA-DRB1
40 lichen planopilaris 10.2 HLA-DRB1 HLA-DQB1
41 cough variant asthma 10.2 RNASE3 NGF IL4
42 metal allergy 10.2 HLA-DRB1 HLA-DQB1
43 toxoplasmosis 10.2 IL4 HLA-DQB1 CD79A
44 frasier syndrome 10.2
45 leukoregulin 10.2 TGFB1 CSF1
46 milk allergy 10.1 RNASE3 IL4 CD79A
47 osteonecrosis of the jaw 10.1 TGFB1 HLA-DRB1 HLA-DQB1
48 latex allergy 10.1 RNASE3 IL4 HLA-DQB1
49 differentiated thyroid carcinoma 10.1 TGFB1 NTRK1 CD36
50 hypothyroidism 10.1

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 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
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 gingivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000230
6 oral mucosal blisters 59 32 hallmark (90%) Very frequent (99-80%) HP:0200097
7 abnormality of the eye 32 HP:0000478
8 abnormal blistering of the skin 59 Occasional (29-5%)

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 ACTA2 CCN2 CD36 CSF1 HLA-DQB1 ITGA6
2 cellular MP:0005384 10.36 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
3 growth/size/body region MP:0005378 10.36 CCN2 CD36 CSF1 HLA-DQB1 IL4 ITGA6
4 hematopoietic system MP:0005397 10.34 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
5 immune system MP:0005387 10.34 CD36 CD79A CIITA CSF1 HLA-DQB1 IL4
6 homeostasis/metabolism MP:0005376 10.32 CCN2 CD36 CD79A CIITA CSF1 HLA-DQB1
7 digestive/alimentary MP:0005381 10.27 CCN2 CD36 HLA-DQB1 IL4 ITGA6 ITGB4
8 endocrine/exocrine gland MP:0005379 10.26 CCN2 CD36 CIITA CSF1 HLA-DQB1 IL4
9 mortality/aging MP:0010768 10.25 CCN2 CD36 CSF1 HLA-DQB1 IL4 ITGA6
10 craniofacial MP:0005382 10.23 CCN2 CSF1 IL4 ITGA6 ITGB4 SERPINH1
11 nervous system MP:0003631 10.21 CD36 CD79A CSF1 HLA-DQB1 IL4 ITGA6
12 integument MP:0010771 10.13 CCN2 CSF1 IL4 ITGA6 ITGB4 NGF
13 liver/biliary system MP:0005370 10.11 CCN2 CD36 CD79A CSF1 HLA-DQB1 IL4
14 muscle MP:0005369 10.06 ACTA2 CD36 CSF1 HLA-DQB1 NGF NTRK1
15 normal MP:0002873 10.02 CCN2 CD79A CIITA HLA-DQB1 IL4 MIF
16 hearing/vestibular/ear MP:0005377 10.01 CCN2 CSF1 ITGA6 ITGB4 MIF NTRK1
17 respiratory system MP:0005388 9.9 CCN2 CSF1 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 CCN2 CD36 CIITA CSF1 IL4 SERPINH1
20 vision/eye MP:0005391 9.4 ACTA2 CCN2 CD36 CSF1 IL4 ITGA6

Drugs & Therapeutics for Ocular Cicatricial Pemphigoid

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

(show all 18)
# 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 Immunologic Factors Phase 1, Phase 2
6 Photosensitizing Agents Phase 1, Phase 2
7 Vitamin B Complex Phase 1, Phase 2
8 Trace Elements Phase 1, Phase 2
9 Micronutrients Phase 1, Phase 2
10 Vitamin B9 Phase 1, Phase 2
11 Vitamin B2 Phase 1, Phase 2
12 Pharmaceutical Solutions Phase 1, Phase 2
13 Vitamins Phase 1, Phase 2
14 Folate Phase 1, Phase 2
15 Dermatologic Agents Phase 1, Phase 2
16 Immunoglobulins Phase 1
17 Antibodies Phase 1
18 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 Immune Responses to Antigens in Non-infectious Eye Inflammatory Diseases Completed NCT00357071
6 Clinical Trial on the Effect of Autologous Oral Mucosal Epithelial Sheet Transplantation Available NCT02149732
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, T Cells, Liver, Bone, Heart, Thyroid

Publications for Ocular Cicatricial Pemphigoid

Articles related to Ocular Cicatricial Pemphigoid:

(show top 50) (show all 152)
# 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
Ocular cicatricial pemphigoid. ( 30222656 )
2018
5
Efficacy and adverse reactions of methotrexate in the treatment of ocular cicatricial pemphigoid: A case series study. ( 30235689 )
2018
6
Rituximab in the treatment of ocular cicatricial pemphigoid: a retrospective cohort study. ( 28154932 )
2017
7
Conjunctival Squamous Cell Neoplasia Associated With Ocular Cicatricial Pemphigoid. ( 28509683 )
2017
8
Long-term remission of ocular cicatricial pemphigoid off immunomodulatory therapy. ( 29077176 )
2017
9
Update on ocular cicatricial pemphigoid and emerging treatments. ( 26708362 )
2016
10
Clinical features and in vivo confocal microscopy assessment in 12 patients with ocular cicatricial pemphigoid. ( 27275431 )
2016
11
NGF Modulates trkANGFR/p75NTR in I+SMA-Expressing Conjunctival Fibroblasts from Human Ocular Cicatricial Pemphigoid (OCP). ( 26569118 )
2015
12
Characteristics of patients with ocular cicatricial pemphigoid referred to major tertiary hospital. ( 25863854 )
2015
13
IgM ocular cicatricial pemphigoid: a unique insight into the immune system. ( 26632795 )
2015
14
Neutrophil collagenase, gelatinase, and myeloperoxidase in tears of patients with stevens-johnson syndrome and ocular cicatricial pemphigoid. ( 23962653 )
2014
15
Low-dose pulsed intravenous cyclophosphamide for severe ocular cicatricial pemphigoid in elderly patients. ( 25014147 )
2014
16
Outcomes of cataract surgery in ocular cicatricial pemphigoid. ( 23941520 )
2013
17
Polymicrobial and microsporidial keratitis in a patient using Boston scleral contact lens for Sjogren's syndrome and ocular cicatricial pemphigoid. ( 23123433 )
2013
18
Coexistence of ocular cicatricial pemphigoid with Stevens Johnson syndrome. ( 23826544 )
2013
19
Profile of local interleukin expression in a cohort of ocular cicatricial pemphigoid patients. ( 23081979 )
2012
20
Ocular cicatricial pemphigoid masquerading as chronic conjunctivitis: a case report. ( 23269857 )
2012
21
The frequency of other autoimmune disorders in patients with ocular cicatricial pemphigoid. ( 21595864 )
2012
22
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. ( 23118521 )
2012
23
Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. ( 21958173 )
2011
24
Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid. ( 21279976 )
2011
25
Peripheral ulcerative keratitis after cataract surgery in a patient with ocular cicatricial pemphigoid. ( 21822128 )
2011
26
Membrane array analysis of tear proteins in ocular cicatricial pemphigoid. ( 21552176 )
2011
27
Combination of rituximab and intravenous immunoglobulin for recalcitrant ocular cicatricial pemphigoid: a preliminary report. ( 20045562 )
2010
28
Anterior lamellar excision and laissez-faire healing for aberrant lashes in ocular cicatricial pemphigoid. ( 19911023 )
2010
29
Transscleral diode laser cyclophotocoagulation and ocular cicatricial pemphigoid. ( 20635815 )
2010
30
Scleral lenses and ocular cicatricial pemphigoid. ( 20697280 )
2010
31
T-helper 17 lymphocytes in ocular cicatricial pemphigoid. ( 19641634 )
2009
32
Transscleral diode laser cyclophotocoagulation in a patient with ocular cicatricial pemphigoid. ( 19928727 )
2009
33
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 21686527 )
2009
34
Ocular cicatricial pemphigoid: the role of scleral lenses in disease management. ( 19770718 )
2009
35
Exacerbation of undiagnosed ocular cicatricial pemphigoid after repair of involutional entropion. ( 18356734 )
2008
36
Intravenous immunoglobulin therapy for refractory ocular cicatricial pemphigoid: case report. ( 18724167 )
2008
37
Ocular cicatricial pemphigoid. ( 18762085 )
2008
38
Treatment of ocular cicatricial pemphigoid with the tumour necrosis factor alpha antagonist etanercept. ( 17225020 )
2007
39
Corneal ulcer as an atypical presentation of ocular cicatricial pemphigoid. ( 17294392 )
2007
40
Tumour necrosis factor-alpha in conjunctivae affected by ocular cicatricial pemphigoid. ( 17488321 )
2007
41
Combination treatment of intravenous immunoglobulin and cultivated oral mucosal epithelial transplantation for ocular cicatricial pemphigoid. ( 17179127 )
2007
42
Ocular cicatricial pemphigoid. ( 16954792 )
2006
43
In vivo confocal microscopy of ocular cicatricial pemphigoid. ( 16583645 )
2006
44
Conjunctival mucoepidermoid carcinoma in a patient with ocular cicatricial pemphigoid and a review of the literature. ( 16950250 )
2006
45
Dapsone induced haemolytic anaemia in patients treated for ocular cicatricial pemphigoid. ( 16547343 )
2006
46
Ocular cicatricial pemphigoid: manifestations and management. ( 15967079 )
2005
47
Ocular cicatricial pemphigoid, keratomycosis, and intravenous immunoglobulin therapy. ( 15502484 )
2004
48
Intravenous immunoglobulin therapy in patients with ocular-cicatricial pemphigoid: a long-term follow-up. ( 15234140 )
2004
49
Ocular cicatricial pemphigoid: pathogenesis, diagnosis and treatment. ( 15388075 )
2004
50
Role of macrophage migration inhibitory factor in conjunctival pathology in ocular cicatricial pemphigoid. ( 15037585 )
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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 CD36 CD79A CIITA CSF1 HLA-DQB1 HLA-DRB1
2
Show member pathways
13.77 ACTA2 CCN2 CSF1 IL4 ITGA6 ITGB4
3
Show member pathways
13.66 ACTA2 CCN2 CD79A HLA-DQB1 HLA-DRB1 ITGA6
4
Show member pathways
13.48 CCN2 IL4 ITGA6 ITGB4 NGF NTRK1
5
Show member pathways
13.36 ACTA2 CD36 ITGA6 ITGB4 PRG2 TGFB1
6
Show member pathways
13.3 CD36 CIITA CSF1 HLA-DQB1 HLA-DRB1 IL4
7
Show member pathways
13.25 ACTA2 CCN2 CSF1 IL4 ITGA6 ITGB4
8
Show member pathways
13.21 ACTA2 CCN2 CSF1 IL4 NGF NTRK1
9
Show member pathways
12.96 ACTA2 HLA-DQB1 HLA-DRB1 ITGA6 ITGB4 NTRK1
10
Show member pathways
12.96 CSF1 IL4 ITGA6 ITGB4 NGF NTRK1
11
Show member pathways
12.81 ACTA2 ITGA6 ITGB4 NTRK1 TGFB1 TGFBR2
12 12.79 IL4 ITGA6 NTRK1 TGFB1 TGFBR2
13 12.73 CSF1 NGF NTRK1 TGFB1 TGFBR2
14
Show member pathways
12.71 CIITA HLA-DQB1 HLA-DRB1 IL4 PRG2 RNASE3
15
Show member pathways
12.7 ACTA2 CCN2 CD79A ITGA6 ITGB4 NGF
16
Show member pathways
12.59 CD79A HLA-DQB1 HLA-DRB1 IL4 TNFRSF1B
17
Show member pathways
12.55 HLA-DQB1 HLA-DRB1 IL4 TGFB1 TGFBR2
18 12.38 HLA-DQB1 HLA-DRB1 TGFB1 TGFBR2
19
Show member pathways
12.3 ACTA2 CCN2 ITGA6 ITGB4 NGF NTRK1
20
Show member pathways
12.21 CCN2 IL4 NGF NTRK1 TGFB1
21 12.19 CIITA HLA-DQB1 HLA-DRB1 TGFB1
22
Show member pathways
12.03 CCN2 IL4 NGF TGFB1 TGFBR2 TNFRSF1B
23
Show member pathways
12.01 CIITA HLA-DQB1 HLA-DRB1 IL4 ITGA6 TGFB1
24 11.94 CD36 CD79A CSF1 IL4
25 11.93 CD36 IL4 TGFB1 TNFRSF1B
26 11.81 CSF1 HLA-DQB1 HLA-DRB1 TGFB1
27 11.69 CD36 IL4 TGFB1
28 11.68 CCN2 ITGA6 ITGB4 NGF NTRK1 TGFB1
29
Show member pathways
11.66 ITGA6 ITGB4 TGFB1
30 11.63 CCN2 IL4 TGFB1
31 11.51 CCN2 TGFB1 TGFBR2
32 11.49 CSF1 IL4 TNFRSF1B
33 11.43 NGF NTRK1 TGFB1 TGFBR2
34 11.29 ACTA2 ITGA6 ITGB4 NTRK1 TGFB1 TGFBR2
35 11.09 CSF1 HLA-DRB1 IL4 TGFB1
36 11.09 CD36 CSF1 HLA-DQB1 HLA-DRB1 IL4 ITGA6
37
Show member pathways
10.71 NGF NTRK1
38 10.51 CCN2 CSF1 IL4 ITGA6 ITGB4 NGF

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 CCN2 CD36 CSF1 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 CCN2 CSF1 IL4 MIF NGF PRG2

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.95 CD36 CD79A MIF TNFRSF1B
2 negative regulation of gene expression GO:0010629 9.93 CCN2 CD36 MIF TGFB1
3 inflammatory response GO:0006954 9.91 CIITA CSF1 MIF TGFB1 TNFRSF1B
4 regulation of signaling receptor activity GO:0010469 9.88 CCN2 CSF1 IL4 MIF NGF TGFB1
5 cytokine-mediated signaling pathway GO:0019221 9.85 CD36 CSF1 IL4 TGFB1 TNFRSF1B
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.84 CSF1 NGF NTRK1
7 positive regulation of protein phosphorylation GO:0001934 9.84 CCN2 MIF NTRK1 TGFB1
8 cell-matrix adhesion GO:0007160 9.83 CCN2 ITGA6 ITGB4
9 integrin-mediated signaling pathway GO:0007229 9.83 CCN2 ITGA6 ITGB4
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 CCN2 CD36 MIF NTRK1 TGFB1
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 CD36 MIF TGFB1
12 immune response GO:0006955 9.8 CD36 CIITA HLA-DQB1 HLA-DRB1 IL4 PRG2
13 response to glucose GO:0009749 9.77 CCN2 TGFB1 TGFBR2
14 response to wounding GO:0009611 9.77 CCN2 ITGB4 TGFB1
15 B cell differentiation GO:0030183 9.76 CD79A IL4 NTRK1
16 interferon-gamma-mediated signaling pathway GO:0060333 9.75 CIITA HLA-DQB1 HLA-DRB1
17 cellular response to growth factor stimulus GO:0071363 9.72 NTRK1 TGFB1 TNFRSF1B
18 positive regulation of gene expression GO:0010628 9.7 ACTA2 CCN2 CD36 CSF1 IL4 NGF
19 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.66 HLA-DQB1 HLA-DRB1
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.64 TGFB1 TGFBR2
21 hemidesmosome assembly GO:0031581 9.63 ITGA6 ITGB4
22 nerve growth factor signaling pathway GO:0038180 9.62 NGF NTRK1
23 amelogenesis GO:0097186 9.62 ITGA6 ITGB4
24 response to cholesterol GO:0070723 9.61 TGFB1 TGFBR2
25 nail development GO:0035878 9.57 ITGA6 ITGB4
26 positive regulation of MHC class II biosynthetic process GO:0045348 9.56 CIITA IL4
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 myeloid dendritic cell differentiation GO:0043011 9.5 IL4 TGFB1 TGFBR2
30 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.49 HLA-DQB1 HLA-DRB1
31 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.48 HLA-DQB1 HLA-DRB1
32 digestive tract development GO:0048565 9.26 ITGA6 ITGB4 TGFB1 TGFBR2
33 aging GO:0007568 9.1 CCN2 CIITA NTRK1 TGFB1 TGFBR2 TNFRSF1B
34 neutrophil degranulation GO:0043312 10 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 type I transforming growth factor beta receptor binding GO:0034713 9.32 TGFB1 TGFBR2
4 MHC class II receptor activity GO:0032395 9.26 HLA-DQB1 HLA-DRB1
5 growth factor activity GO:0008083 9.02 CCN2 CSF1 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
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