KERH
MCID: KRT019
MIFTS: 69

Keratitis, Hereditary (KERH)

Categories: Cardiovascular diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Keratitis, Hereditary

MalaCards integrated aliases for Keratitis, Hereditary:

Name: Keratitis, Hereditary 57 53 29 6 40 72
Keratitis 57 12 13 55 44 15 17 72 33
Autosomal Dominant Keratitis 59 74 37
Dominantly Inherited Keratitis 53
Keratitis, Autosomal Dominant 6
Hereditary Keratitis 59
Keratitis Hereditary 74
Kerh 74

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant keratitis
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
keratitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:4677
OMIM 57 148190
KEGG 37 H01273
ICD9CM 35 370 370.9
MeSH 44 D007634
NCIt 50 C26805
SNOMED-CT 68 5888003
ICD10 33 H16 H16.9
MESH via Orphanet 45 C537022
ICD10 via Orphanet 34 H16.8
UMLS via Orphanet 73 C1835698
Orphanet 59 ORPHA2334
MedGen 42 C1835698
UMLS 72 C0022568 C1835698

Summaries for Keratitis, Hereditary

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2334DefinitionHereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.EpidemiologyThe prevalence is unknown.Clinical descriptionThe presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia.EtiologyThe syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratitis, Hereditary, also known as keratitis, is related to fungal keratitis and rosacea, and has symptoms including visual disturbance An important gene associated with Keratitis, Hereditary is PAX6 (Paired Box 6), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Moxifloxacin and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and t cells, and related phenotypes are opacification of the corneal stroma and keratitis

Disease Ontology : 12 A corneal disease that is characterized by inflammation of the cornea.

OMIM : 57 Keratitis is a rare ocular disorder presenting with congenital and progressive features predominantly involving the anterior segment of the eye. The major clinical symptoms are anterior stromal corneal opacification and vascularization of the peripheral cornea. Progression of the opacification and vascularization into the central cornea may occur with corresponding reduction in visual acuity. Other anterior segment features include variable radial defects of the iris stroma and foveal hypoplasia (summary by Mirzayans et al., 1995). (148190)

KEGG : 37
Autosomal dominant keratitis (ADK) is a very rare ocular disorder characterised by corneal opacification and vascularization and by foveal hypoplasia. ADK is associated with mutations in the PAX6 gene, that is essential for ocular morphogenesis.

UniProtKB/Swiss-Prot : 74 Keratitis hereditary: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

Wikipedia : 75 Keratitis is a condition in which the eye's cornea, the clear dome on the front surface of the eye,... more...

Related Diseases for Keratitis, Hereditary

Diseases related to Keratitis, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 703)
# Related Disease Score Top Affiliating Genes
1 fungal keratitis 33.6 TLR4 TLR2 MMP9 CLEC7A
2 rosacea 31.0 VEGFA TLR2 MMP9
3 bacterial infectious disease 30.9 TLR4 TLR2 IL1B IL17A
4 chlamydia 30.7 TLR4 TLR2 IL1B
5 otitis media 30.3 TLR4 TLR2 IL1B
6 toxoplasmosis 30.2 TLR4 TLR2 IL1B
7 haemophilus influenzae 30.2 TLR2 IL1B CLEC7A
8 arthritis 30.1 MMP9 MIF IL1B IL17A
9 lyme disease 30.1 TLR2 MMP9 IL1B IL17A
10 middle ear disease 30.1 TLR4 TLR2 IL1B
11 neurosyphilis 30.0 TLR2 IL17A
12 leishmaniasis 29.9 TLR4 TLR2 IL1B
13 chronic mucocutaneous candidiasis 29.9 IL1B IL17A CLEC7A
14 toxic shock syndrome 29.9 TLR4 TLR2 IL1B
15 inflammatory bowel disease 29.8 TLR4 TLR2 IL1B IL17A
16 mycobacterium tuberculosis 1 29.8 TLR4 TLR2 IL17A
17 microvascular complications of diabetes 1 29.7 VEGFA MMP9 FGF2
18 intestinal disease 29.7 VEGFA TLR4 IL1B IL17A
19 aspergillosis 29.6 TLR4 TLR2 CLEC7A
20 nervous system disease 29.6 VEGFA MMP9 IL1B GJB2
21 proteasome-associated autoinflammatory syndrome 1 29.5 TLR4 TLR2 MMP9 IL1B IL17A
22 meningitis 29.3 TLR2 MMP9 IL1B CXCL1
23 peritonitis 29.0 TLR2 IL1B CXCL2
24 rheumatoid arthritis 28.5 VEGFA TLR4 TLR2 MMP9 MIF IL1B
25 pneumonia 28.2 TLR4 TLR2 IL1B CXCL2 CXCL1
26 malaria 27.8 VEGFA TLR4 TLR2 PECAM1 MMP9 MIF
27 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.7
28 herpes simplex virus keratitis 12.7
29 acanthamoeba keratitis 12.7
30 interstitial keratitis 12.6
31 stromal keratitis 12.5
32 deep keratitis 12.4
33 superficial keratitis 12.3
34 filamentary keratitis 12.3
35 exposure keratitis 12.3
36 sclerosing keratitis 12.3
37 gonococcal keratitis 12.3
38 macular keratitis 12.3
39 diffuse interstitial keratitis 12.3
40 kid syndrome 12.3
41 infective keratitis 12.2
42 idiopathic linear interstitial keratitis 12.2
43 infectious epithelial keratitis 12.2
44 vernal keratitis 12.2
45 cogan syndrome 12.1
46 dermatoosteolysis, kirghizian type 11.9
47 punctate epithelial keratoconjunctivitis 11.8
48 keratoendotheliitis fugax hereditaria 11.8
49 keratoconjunctivitis sicca 11.6
50 tyrosinemia, type ii 11.6

Graphical network of the top 20 diseases related to Keratitis, Hereditary:



Diseases related to Keratitis, Hereditary

Symptoms & Phenotypes for Keratitis, Hereditary

Human phenotypes related to Keratitis, Hereditary:

32
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 32 HP:0007759
2 keratitis 32 HP:0000491

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hereditary childhood corneal clouding
recurrent stromal keratitis and vascularization

Misc:
propensity for early recurrence after keratoplasty

Clinical features from OMIM:

148190

UMLS symptoms related to Keratitis, Hereditary:


visual disturbance

GenomeRNAi Phenotypes related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.02 CXCL1 CXCL2 GDI1 GJB2 VEGFA

MGI Mouse Phenotypes related to Keratitis, Hereditary:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 ACKR1 CD4 CLEC7A FGF2 GDI1 GJB2
2 immune system MP:0005387 10.25 ACKR1 CD4 CLEC7A GJB2 IL17A IL1B
3 hematopoietic system MP:0005397 10.22 CD4 CLEC7A FGF2 IL17A IL1B MIF
4 cardiovascular system MP:0005385 10.21 CXCL2 FGF2 GJB2 IL1B MMP9 PAX6
5 digestive/alimentary MP:0005381 10.15 CD4 CLEC7A IL17A MMP9 PAX6 PECAM1
6 integument MP:0010771 10.01 CD4 GJB2 IL1B MMP9 PAX6 TLR2
7 nervous system MP:0003631 10 CD4 FGF2 GDI1 GJB2 IL1B MIF
8 neoplasm MP:0002006 9.92 FGF2 IL1B MIF MMP9 PAX6 TLR2
9 muscle MP:0005369 9.91 FGF2 MMP9 PAX6 PECAM1 TLR2 TLR4
10 renal/urinary system MP:0005367 9.7 IL17A MMP9 PAX6 PECAM1 TLR2 TLR4
11 respiratory system MP:0005388 9.56 CLEC7A IL17A MMP9 PAX6 PECAM1 TLR2
12 skeleton MP:0005390 9.36 ACKR1 FGF2 GJB2 IL17A IL1B MMP9

Drugs & Therapeutics for Keratitis, Hereditary

Drugs for Keratitis, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
2
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
3
Bisoprolol Approved Phase 4 66722-44-9 2405
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Ranibizumab Approved Phase 4 347396-82-1 459903
6
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Acyclovir Approved Phase 4 59277-89-3 2022
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Difluprednate Approved Phase 4 23674-86-4 443936
13
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
14
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Peripheral Nervous System Agents Phase 4
17 Autonomic Agents Phase 4
18 Antibiotics, Antitubercular Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Gastrointestinal Agents Phase 4
21 Norgestimate, ethinyl estradiol drug combination Phase 4
22 Cathartics Phase 4
23 Carboxymethylcellulose Sodium Phase 4
24 Laxatives Phase 4
25 Adrenergic beta-1 Receptor Antagonists Phase 4
26 Sympatholytics Phase 4
27 Hydrocortisone 17-butyrate 21-propionate Phase 4
28 Hydrocortisone hemisuccinate Phase 4
29 Hydrocortisone-17-butyrate Phase 4
30 Angiogenesis Inhibitors Phase 4
31 Angiogenesis Modulating Agents Phase 4
32 Vitamin B2 Phase 4
33 Cyclosporins Phase 4
34 Calcineurin Inhibitors Phase 4
35 Liposomal amphotericin B Phase 4
36 Antiparasitic Agents Phase 4
37 Antiprotozoal Agents Phase 4
38 Antiviral Agents Phase 4
39 Methylprednisolone Acetate Phase 4
40 Prednisolone acetate Phase 4
41 valacyclovir Phase 4
42 Mitogens Phase 4
43 Lubricant Eye Drops Phase 4
44
Voriconazole Approved, Investigational Phase 3 137234-62-9 71616
45
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
46
Ofloxacin Approved Phase 3 82419-36-1 4583
47
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
48
Cefazolin Approved Phase 3 25953-19-9 656510 33255
49
Tetracaine Approved, Vet_approved Phase 3 94-24-6 5411
50
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478

Interventional clinical trials:

(show top 50) (show all 139)
# Name Status NCT ID Phase Drugs
1 Evaluation of Tear Osmolarity Over Time With Sustained Use of Thera Tears Lubricating Completed NCT02758327 Phase 4 TheraTears Lubricating Eye Drops
2 A Single-site, Open-Label Prospective Evaluation of Biocompatibility and Corneal Staining Associated With Use of Bausch & Lomb (B+L) BioTrue Contact Lens Multi-purpose Solution (MPS) and B+L PureVision Contact Lenses. Completed NCT01268306 Phase 4
3 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
4 The Effects of BAK on the Blood Aqueous Barrier of Pseudophakic Patients Completed NCT01280110 Phase 4 Hydroxypropylmethylcellulose;Carboxymethylcellulose
5 Bisoprolol Versus Corticosteroid and Bisoprolol Combination for Prophylaxis Against Atrial Fibrillation After on Pump Coronary Artery Bypass Surgery Completed NCT03800264 Phase 4 Bisoprolol
6 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
7 A Phase IV, Prospective, Open-label, Multicentre, Single Arm, 3-month Proof of Concept Study to Assess the Effect of IKERVIS® Eye Drops Administered Once Daily on the Quality of Vision in Dry Eye Disease (DED) Patients With Severe Keratitis Recruiting NCT03237936 Phase 4 1mg/mL ciclosporin
8 Cross-linking for Corneal Ulcers Treatment Trial Recruiting NCT02570321 Phase 4
9 Long-term Suppressive Valacyclovir Treatment for Herpes Zoster Ophthalmicus Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
10 A Randomized Trial of Topical Corticosteroid Use in Addition to Oral Antivirals for Prevention of Recurrence of Herpes Simplex Virus (HSV) Keratitis Not yet recruiting NCT03626376 Phase 4 oral acyclovir 400 mg BID OR valacyclovir 500 mg qdaily;oral acyclovir 400 mg BID OR valacyclovir 500 mg qdaily + topical corticosteroid eye drops
11 Randomized, Parallel Groups, Multicenter and Blind to Evaluators Clinical Trial, to Evaluate the Efficacy and Safety of PRGF-Endoret Eye Drops, in Patients With Stage 2 and 3 Neurotrophic Keratitis Not yet recruiting NCT02707120 Phase 4 PRGF-Endoret;Artificial tears eye-drops
12 Comparison Between the Sensibility of the Flocked Swab and the Traditional Fiber Swab for the Diagnosis of the Herpes Simplex Epithelial Keratitis Terminated NCT02045082 Phase 4
13 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
14 Efficacy of Repository Corticotropin Injection in Patients With Severe and Recalcitrant Keratoconjunctivitis Sicca Withdrawn NCT03398018 Phase 4 repository corticotropin injection
15 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
16 Effectiveness of Corneal Accelerated Crosslinking Versus Conventional Treatment for Infectious Keratitis Unknown status NCT02865876 Phase 3
17 Combination Treatment of 5% Natamycin and 1% Voriconazole in Fungal Keratitis: a Prospective Randomized Double Masked Clinical Trial Unknown status NCT03230058 Phase 2, Phase 3 Group 1 Natamycin 5% Suspension + voriconazole 1% eye drops; Group 2 Natamycin 5% Suspension + Vehicle eye drops
18 Efficacy and Safety Assessment of T4020 Versus Vehicule in Patients With Chronic Neurotrophic Keratitis or Corneal Ulcer Completed NCT01794312 Phase 3
19 An Evaluation of the Safety and Efficacy of the Administration of a Fixed Combination of Moxifloxacin 0.5% and Dexamethasone 0.1% Eye Drops Compared With the Individual Administration of Moxifloxacin 0.5% and Dexamethasone 0.1% in the Treatment of Bacterial Ocular Inflammation and Infection (Blepharitis and/or Keratitis and/or Conjunctivitis) Completed NCT00732446 Phase 3 Moxifloxacin and Dexamethasone combined;Moxifloxacin;Dexamethasone
20 Mycotic Antimicrobial Localized Injection for Treatment of Corneal Ulcers Completed NCT02731638 Phase 3 Intrastromal voriconazole;Natamycin
21 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir
22 A Clinical Safety and Efficacy Evaluation of Zylet® Versus Tobradex in the Treatment of Blepharokeratoconjunctivitis Completed NCT01028027 Phase 3 Loteprednol and tobramycin;Tobramycin and dexamethasone
23 A Multicenter, Randomized, Double-Masked, 3 Parallel Arms, Placebo Controlled Study to Assess the Efficacy and Safety of NOVA22007 1mg/mL (Ciclosporin/Cyclosporine) Eye Drops, Emulsion Administered in Paediatric Patients With Active Severe Vernal Keratoconjunctivitis With Severe Keratitis Completed NCT01751126 Phase 3 NOVA22007 ''Ciclosporin'';Placebo
24 Mycotic Ulcer Treatment Trial Completed NCT00996736 Phase 3 Natamycin;Voriconazole
25 The Mycotic Ulcer Treatment Trial II: A Randomized Trial Comparing Oral Voriconazole vs Placebo Completed NCT00997035 Phase 3 Voriconazole;Placebo
26 A Phase 3, Multicenter, Randomized, Double-Masked Study of Safety and Efficacy of Vismed® in Dry Eye Syndrome Completed NCT00599716 Phase 3 sodium hyaluronate;vehicle
27 Randomized, Active-Controlled, Phase 3 Study to Evaluate Efficacy, Safety and Tolerability of 0.08% PHMB Ophthalmic Solution in Comparison With 0.02% PHMB + 0.1% Propamidine Combination Therapy in Subjects Affected by Acanthamoeba Keratitis Recruiting NCT03274895 Phase 3 PHMB 0.08%;Propamidine 0.1%;placebo;PHMB 0.02%
28 Swiss PACK-CXL (Photoactivated Chromophore for Infectious Keratitis Cross-linking) Multicenter Trial for the Treatment of Infectious Keratitis Recruiting NCT02717871 Phase 3 Cefazolin in combination with either tobramycin or gentamicin;Cycloplegic agents (cyclopentolate 1% eye drops);Fluoroquinolones (Besifloxacin ; ciprofloxacin ; gatifloxacin ; levofloxacin ; moxifloxacin ; ofloxacin );Corticosteroids (prednisolone acetate 0.5% or 1% eye drops)
29 Comparison of Autologous Serum 20% and Autologous Serum 50% for the Treatment of Severe Dry Eye Enrolling by invitation NCT03436576 Phase 3 Autologous Serum 20%;Autologous Serum 50%
30 A Multicenter Randomized Open-label Trial Comparing the Efficacy and Safety of Infliximab Versus Cyclophosphamide in Subjects With Idiopathic Refractory Scleritis Not yet recruiting NCT03088293 Phase 3 Infliximab;Cyclophosphamide
31 Effect of Topical Glaucoma Therapy on Tear Film Stability in Healthy Subjects Terminated NCT01746602 Phase 3 Timoptic® 0.5%;Timophtal sine® 0.5%
32 A Clinical Trial of the Treatment of Fungal Corneal Ulcers With Povidone-Iodine Terminated NCT00516399 Phase 3 povidone-iodine 1.25% ophthalmic solution;natamycin ophthalmic suspension, USP 5%
33 Association of Azithromycin 1,5%/Loteprednol 0,5% Eye Drops Versus Individual Administration of Azithromycin 1,5% and Loteprednol 0,5% in the Treatment of Ocular Inflammation and Infection Withdrawn NCT01721694 Phase 3 azithromycin 1.5%/Loteprednol 0,5% + placebo;azithromycin 1.5% + Loteprednol 0,5% (separately)
34 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
35 Collagen Cross-linking in Infectious Keratitis Trial Completed NCT01831206 Phase 2
36 An 8-week Phase II, Multicenter, Randomized, Double-masked, Vehicle Controlled Parallel Group Study With a 24 or 32 Week Follow-up to Evaluate the Efficacy of rhNGF 20 µg/ml vs Vehicle in Patients With Stage 2 and 3 Neurotrophic Keratitis Completed NCT02227147 Phase 2 rhNGF 20µg/ml
37 Mycotic Ulcer Treatment Trial Therapeutic Exploratory Study Completed NCT00557362 Phase 1, Phase 2 Natamycin 5%;Voriconazole
38 An 8-week Phase I/II, Multicenter, Randomized, Double-masked, Vehicle Controlled Parallel Group Study to Evaluate the Safety and Efficacy of Two Doses of Recombinant Human Nerve Growth Factor in Patients With Stage 2 and 3 of NK Completed NCT01756456 Phase 1, Phase 2 rhNGF 10 μg/ml;rhNGF 20 μg/ml
39 Mucin Balls and Corneal Inflammation Events Completed NCT01437319 Phase 1, Phase 2
40 Evaluation and Treatment of Ocular Complications of Vaccinia Vaccination: Suitability of NP-016 Vaccinia Immune Globulin (VIG) for Sight-Threatening Conditions [VIG31] Completed NCT00081835 Phase 2 NP-016 Vaccine Immune Globulin (IV-VIG)
41 Safety and Efficacy Study of Gatifloxacin Compared With Ciprofloxacin in Patients With Acute Bacterial Corneal Ulcers Completed NCT00651586 Phase 2 Gatifloxacin 0.3% ophthalmic solution;Ciprofloxacin 0.3% ophthalmic solution
42 A Clinical Trial of Povidone-Iodine for the Treatment of Bacterial Corneal Ulcers Completed NCT00386958 Phase 2 Povidone-Iodine
43 Pilot Phase I/II Study of the Treatment of Classic Central Serous Chorioretinopathy With Topical Interferon Gamma-1b Completed NCT01468337 Phase 1, Phase 2 Interferon gamma-1b
44 A Prospective, Double-masked, Placebo Controlled Comparison of Topical 0.15% Gancyclovir Gel (Zirgan) Versus 0.3% Hypromellose Gel (Genteal Gel; Placebo) for the Treatment of Herpes Zoster Keratitis Recruiting NCT02382588 Phase 2 gancyclovir gel;Hypromellose gel
45 Parasitic Ulcer Treatment Trial Pilot Recruiting NCT03484507 Phase 2 Chlorhexidine;Povidone-Iodine;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose
46 Translational Stem Cell Research in Ophthalmology - Regenerating the Anterior Cornea Through Standardized Transplantation of Limbal Epithelial Stem Cells: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
47 An Open Label, Multi-centered, Randomized Phase 2 Study to Evaluate the Safety, Tolerability and Bioactivity of Subcutaneous ACTH GeL in PAtients With Scleritis: The ATLAS Study Recruiting NCT03465111 Phase 2 ACTH (adrenocorticotropic hormone) gel
48 Phase 2, Randomized, Double-masked, Vehicle-controlled, Dose-escalation Study Evaluating Efficacy/Safety of Nexagon in Subjects With Persistent Corneal Epithelial Defects (PED) Resulting From Corneal Epithelial Debridement During Diabetic Vitrectomy Surgery, Herpes Simples Virus (HSV) Keratitis, Herpes Zoster Virus (HZV) Keratitis, Corneal Burns, Post-photorefractive Keratectomy (Post-PRK), or Post-corneal Transplant Surgery. Terminated NCT01165450 Phase 2 Nexagon;Vehicle only
49 A Randomized, Controlled, Double-Masked, Clinical Trial of Autologous Serum Eye Drops for Severe Ocular Chronic Graft-versus-Host Disease (GVHD) in Hematopoietic Stem Cell Transplant (HSCT) Patients Terminated NCT01972438 Phase 2 ASEDs;Saline
50 A Phase II Study of Albumin Bound-Paclitaxel (AbraxaneTM) for Treatment of Recurrent or Metastatic Head and Neck Cancer With the Addition of Cetuximab (Erbitux) (IMC-225) on Disease Progression Terminated NCT00319839 Phase 2 Abraxane;Cetuximab

Search NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Corticotropin
Cortisone acetate
Dexamethasone
Hydrocortisone
Hydroxypropyl cellulose
Loteprednol
loteprednol etabonate
Methylprednisolone
Neomycin
Prednisolone
Prednisone
Tetracosactide
Tropicamide

Cochrane evidence based reviews: keratitis

Genetic Tests for Keratitis, Hereditary

Genetic tests related to Keratitis, Hereditary:

# Genetic test Affiliating Genes
1 Keratitis, Hereditary 29 PAX6

Anatomical Context for Keratitis, Hereditary

MalaCards organs/tissues related to Keratitis, Hereditary:

41
Eye, Endothelial, T Cells, Testes, Neutrophil, Skin, Brain

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

(show top 50) (show all 13327)
# Title Authors PMID Year
1
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. 9 38 8 71
7668281 1995
2
Autosomal dominant keratitis: a possible aniridia variant. 38 8 71
7627897 1995
3
Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. 38 8
1951425 1991
4
Dominantly inherited keratitis. 38 8
3778274 1986
5
Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. 8
4069606 1985
6
Corneal involvement in epidermolysis bullosa simplex. 8
7362501 1980
7
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 9 38
20230788 2010
8
Toll-like receptors involved in the pathogenesis of experimental Candida albicans keratitis. 9 38
19933194 2010
9
Chemokine CXCL1/KC and its receptor CXCR2 are responsible for neutrophil chemotaxis in adenoviral keratitis. 9 38
19642907 2009
10
Activation of Toll-like receptors 2 and 4 in Aspergillus fumigatus keratitis. 9 38
19474209 2009
11
A human apolipoprotein E mimetic peptide effectively inhibits HSV-1 TK-positive and TK-negative acute epithelial keratitis in rabbits. 9 38
19219680 2009
12
Expression of toll-like receptors in the Fusarium solani infected cornea. 9 38
18398706 2008
13
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 9 38
16917729 2006
14
Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 9 38
16172043 2005
15
Role and regulation of CXC-chemokines in acute experimental keratitis. 9 38
12565810 2003
16
IL-17 expression in human herpetic stromal keratitis: modulatory effects on chemokine production by corneal fibroblasts. 9 38
12421973 2002
17
Expression of macrophage migration inhibitory factor during Pseudomonas keratitis. 9 38
11446464 2001
18
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 9 38
11309364 2001
19
PAX6 mutations reviewed. 9 38
9482572 1998
20
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. 9 38
7648039 1995
21
Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. 9 38
8339559 1993
22
Antagonists and inhibitors of lipid mediators in experimental inflammation of the cornea. 9 38
8106842 1993
23
Induction of autoantibodies to rat corneal protein 54. 9 38
1563095 1992
24
Detection of herpes simplex virus DNA sequences in corneal transplant recipients by polymerase chain reaction assays. 9 38
1650662 1991
25
Cell mediated immunity in herpes simplex keratitis in man. 9 38
2275344 1990
26
The influence of a fish oil dietary supplement on immunogenic keratitis. 9 38
1696943 1990
27
Hydrogel sealant to prevent recurrent epithelial ingrowth in the setting of a LASIK flap buttonhole. 38
31372580 2019
28
Ocular Surface Diseases Induced by Dupilumab in Severe Atopic Dermatitis. 38
31230264 2019
29
Bilateral Necrotizing Herpes Simplex Keratitis in an Immunocompetent Patient With Genetic Analysis of Herpes Simplex Virus 1. 38
31205162 2019
30
Neurotrophic keratitis after micropulse transscleral diode laser cyclophotocoagulation. 38
31193794 2019
31
Myeloid-Derived Suppressor Cells Confer Infectious Tolerance to Dampen Virus-Induced Tissue Immunoinflammation. 38
31331972 2019
32
The impact of vinegar on pathogenic Acanthamoeba astronyxis isolate. 38
31406399 2019
33
Intraoperative Photoactivated Chromophore for Infectious Keratitis-Corneal Cross-Linking (PACK-CXL) During Penetrating Keratoplasty for the Management of Fungal Keratitis in an Immunocompromised Patient. 38
31278588 2019
34
Bacterial isolates in microbial keratitis: Three-year trend analysis from North India. 38
31436220 2019
35
Early Penetrating Keratoplasty À Chaud May Improve Outcome in Therapy-Resistant Acanthamoeba Keratitis. 38
31317392 2019
36
Thermosensitive hydrogel containing sertaconazole loaded nanostructured lipid carriers for potential treatment of fungal keratitis. 38
31062987 2019
37
Transient extremely shallow anterior chamber caused by ciliochoroidal detachment in a patient with Mycobacterium chelonae keratitis. 38
31417974 2019
38
High fluence PACK-CXL as adjuvant treatment for advanced Acanthamoeba keratitis. 38
31312750 2019
39
Successful medical management of Pythium insidiosum keratitis using a combination of minocycline, linezolid, and chloramphenicol. 38
31289761 2019
40
Long-term outcomes of riboflavin photodynamic antimicrobial therapy as a treatment for infectious keratitis. 38
31198886 2019
41
Quantitative profiling of tear proteome reveals down regulation of zinc alpha-2 glycoprotein in Aspergillus flavus keratitis patients. 38
31233730 2019
42
Case of isolated Rhizobium radiobacter contact lens-related infectious keratitis: A plant microbe now emerging as a human pathogen. 38
31194053 2019
43
Host Invasion by Pathogenic Amoebae: Epithelial Disruption by Parasite Proteins. 38
31416298 2019
44
Reservoirs of resistance: polymyxin resistance in veterinary-associated companion animal isolates of Pseudomonas aeruginosa. 38
31239295 2019
45
Repeatability and Reproducibility of Slit Lamp, Optical Coherence Tomography, and Scheimpflug Measurements of Corneal Scars. 38
31018742 2019
46
Uveitis and optic perineuritis in the context of myelin oligodendrocyte glycoprotein antibody seropositivity. 38
30748058 2019
47
Protective Action of Linear Polyethylenimine against Staphylococcus aureus Colonization and Exaggerated Inflammation in Vitro and in Vivo. 38
31099239 2019
48
Indications and techniques of corneal transplantation in a referral center in Colombia, South America (2012-2016). 38
30047076 2019
49
Clinical Profile, Etiology, and Outcome of Infantile Ocular Trauma: A Developing Country Perspective. 38
28632575 2019
50
In vivo effect of bevacizumab-loaded albumin nanoparticles in the treatment of corneal neovascularization. 38
31228461 2019

Variations for Keratitis, Hereditary

ClinVar genetic disease variations for Keratitis, Hereditary:

6 (show top 50) (show all 87)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6): c.917-2A> T single nucleotide variant Pathogenic rs587776571 11:31815103-31815103 11:31793555-31793555
2 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 11:31815335-31815335 11:31793787-31793787
3 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121907922 11:31811483-31811483 11:31789935-31789935
4 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 11:31812304-31812304 11:31790756-31790756
5 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 11:31823332-31823332 11:31801784-31801784
6 PAX6 NM_000280.4(PAX6): c.*2705_*2707del deletion Uncertain significance rs886048189 11:31808775-31808777 11:31787227-31787229
7 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 11:31809961-31809961 11:31788413-31788413
8 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 11:31810088-31810088 11:31788540-31788540
9 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 11:31807406-31807406 11:31785858-31785858
10 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 11:31807479-31807479 11:31785931-31785931
11 PAX6 NM_000280.4(PAX6): c.*4919_*4921delinsCACAGATTAAAAGAAATG indel Uncertain significance rs886048180 11:31806561-31806563 11:31785013-31785015
12 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 11:31807121-31807121 11:31785573-31785573
13 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 11:31807574-31807574 11:31786026-31786026
14 PAX6 NM_000280.4(PAX6): c.*2551C> T single nucleotide variant Uncertain significance rs886048190 11:31808931-31808931 11:31787383-31787383
15 PAX6 NM_000280.4(PAX6): c.*2393T> C single nucleotide variant Uncertain significance rs886048193 11:31809089-31809089 11:31787541-31787541
16 PAX6 NM_000280.4(PAX6): c.*2387G> T single nucleotide variant Uncertain significance rs886048194 11:31809095-31809095 11:31787547-31787547
17 PAX6 NM_000280.4(PAX6): c.*2385G> C single nucleotide variant Uncertain significance rs886048195 11:31809097-31809097 11:31787549-31787549
18 PAX6 NM_000280.4(PAX6): c.*1053T> C single nucleotide variant Uncertain significance rs886048197 11:31810429-31810429 11:31788881-31788881
19 PAX6 NM_000280.4(PAX6): c.*939A> G single nucleotide variant Uncertain significance rs886048198 11:31810543-31810543 11:31788995-31788995
20 PAX6 NM_000280.4(PAX6): c.*356T> A single nucleotide variant Uncertain significance rs774392481 11:31811126-31811126 11:31789578-31789578
21 PAX6 NM_000280.4(PAX6): c.*335T> C single nucleotide variant Uncertain significance rs766518284 11:31811147-31811147 11:31789599-31789599
22 PAX6 NM_000280.4(PAX6): c.*207G> A single nucleotide variant Uncertain significance rs886048199 11:31811275-31811275 11:31789727-31789727
23 PAX6 NM_000280.4(PAX6): c.*183dup duplication Uncertain significance rs886048200 11:31811299-31811299 11:31789751-31789751
24 PAX6 NM_000280.4(PAX6): c.-368G> A single nucleotide variant Uncertain significance rs886048206 11:31832714-31832714 11:31811166-31811166
25 PAX6 NM_000280.4(PAX6): c.-501del deletion Uncertain significance rs886048208 11:31832847-31832847 11:31811299-31811299
26 PAX6 NM_000280.4(PAX6): c.*4533T> C single nucleotide variant Uncertain significance rs745626044 11:31806949-31806949 11:31785401-31785401
27 PAX6 NM_000280.4(PAX6): c.*4128C> T single nucleotide variant Uncertain significance rs886048182 11:31807354-31807354 11:31785806-31785806
28 PAX6 NM_000280.4(PAX6): c.-59G> T single nucleotide variant Uncertain significance rs886048204 11:31828404-31828404 11:31806856-31806856
29 PAX6 NM_000280.4(PAX6): c.-147_-146dup duplication Uncertain significance rs886048205 11:31832393-31832394 11:31810845-31810846
30 PAX6 NM_000280.4(PAX6): c.*2490G> A single nucleotide variant Uncertain significance rs886048191 11:31808992-31808992 11:31787444-31787444
31 PAX6 NM_000280.4(PAX6): c.*891G> A single nucleotide variant Uncertain significance rs530259403 11:31810591-31810591 11:31789043-31789043
32 PAX6 NM_000280.4(PAX6): c.*226T> C single nucleotide variant Uncertain significance rs753595935 11:31811256-31811256 11:31789708-31789708
33 PAX6 NM_000280.4(PAX6): c.*2882T> C single nucleotide variant Uncertain significance rs143185259 11:31808600-31808600 11:31787052-31787052
34 PAX6 NM_000280.4(PAX6): c.-507T> C single nucleotide variant Uncertain significance rs886048209 11:31832853-31832853 11:31811305-31811305
35 PAX6 NM_000280.4(PAX6): c.*3696_*3697GT[2] short repeat Uncertain significance rs886048186 11:31807781-31807782 11:31786233-31786234
36 PAX6 NM_000280.4(PAX6): c.*2906A> G single nucleotide variant Uncertain significance rs886048187 11:31808576-31808576 11:31787028-31787028
37 PAX6 NM_000280.4(PAX6): c.*2887del deletion Uncertain significance rs886048188 11:31808595-31808595 11:31787047-31787047
38 PAX6 NM_000280.4(PAX6): c.*2432A> G single nucleotide variant Uncertain significance rs886048192 11:31809050-31809050 11:31787502-31787502
39 PAX6 NM_000280.4(PAX6): c.*357A> T single nucleotide variant Uncertain significance rs774473337 11:31811125-31811125 11:31789577-31789577
40 PAX6 NM_000280.4(PAX6): c.*356del deletion Uncertain significance rs200391530 11:31811126-31811126 11:31789578-31789578
41 PAX6 NM_000280.4(PAX6): c.*107G> C single nucleotide variant Uncertain significance rs886048201 11:31811375-31811375 11:31789827-31789827
42 PAX6 NM_000280.4(PAX6): c.547G> C (p.Gly183Arg) single nucleotide variant Uncertain significance rs886048202 11:31816313-31816313 11:31794765-31794765
43 PAX6 NM_000280.4(PAX6): c.-430G> C single nucleotide variant Uncertain significance rs886048207 11:31832776-31832776 11:31811228-31811228
44 PAX6 NM_000280.4(PAX6): c.*2159C> T single nucleotide variant Likely benign rs3026396 11:31809323-31809323 11:31787775-31787775
45 PAX6 NM_000280.4(PAX6): c.*841C> T single nucleotide variant Likely benign rs530931929 11:31810641-31810641 11:31789093-31789093
46 PAX6 NM_000280.4(PAX6): c.*417C> T single nucleotide variant Likely benign rs55756603 11:31811065-31811065 11:31789517-31789517
47 PAX6 NM_000280.4(PAX6): c.831G> A (p.Gln277=) single nucleotide variant Likely benign rs149053004 11:31815285-31815285 11:31793737-31793737
48 PAX6 NM_000280.4(PAX6): c.*3670C> T single nucleotide variant Likely benign rs149777109 11:31807812-31807812 11:31786264-31786264
49 PAX6 NM_000280.4(PAX6): c.*4370C> G single nucleotide variant Likely benign rs183115097 11:31807112-31807112 11:31785564-31785564
50 PAX6 NM_000280.4(PAX6): c.*2697T> A single nucleotide variant Likely benign rs138881442 11:31808785-31808785 11:31787237-31787237

Expression for Keratitis, Hereditary

Search GEO for disease gene expression data for Keratitis, Hereditary.

Pathways for Keratitis, Hereditary

Pathways related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 VEGFA TLR4 TLR2 PECAM1 MMP9 MIF
2
Show member pathways
13.37 TLR4 TLR2 IL1B IL17A FGF2 CXCL2
3
Show member pathways
13.31 VEGFA MMP9 IL1B IL17A FGF2 CXCL2
4
Show member pathways
12.82 VEGFA TLR4 TLR2 MMP9 IL1B FGF2
5
Show member pathways
12.56 TLR4 TLR2 IL1B IL17A CD4
6
Show member pathways
12.55 IL1B IL17A FGF2 CXCL1 CD4
7
Show member pathways
12.26 TLR4 MIF IL1B FGF2
8 12.26 VEGFA TLR4 TLR2 MMP9 FGF2
9
Show member pathways
12.24 TLR2 MMP9 IL1B IL17A CXCL2 CXCL1
10 12.2 TLR4 TLR2 IL1B CLEC7A
11 12.15 VEGFA TLR4 TLR2 MMP9
12
Show member pathways
12.14 TLR4 TLR2 PECAM1 MMP9 IL1B CXCL2
13 12.06 VEGFA PECAM1 MMP9 IL1B
14
Show member pathways
12.01 TLR4 TLR2 MMP9 IL1B
15
Show member pathways
11.99 TLR4 TLR2 IL1B IL17A CD4
16 11.94 MMP9 IL1B CXCL2 CXCL1
17 11.91 VEGFA MMP9 IL1B IL17A FGF2
18 11.88 TLR4 TLR2 IL1B CXCL1
19 11.87 TLR4 IL1B CXCL2
20
Show member pathways
11.83 TLR4 IL17A CXCL1
21 11.8 PECAM1 MMP9 FGF2
22 11.77 TLR4 TLR2 CLEC7A
23 11.77 TLR4 IL1B CXCL2 CXCL1
24 11.74 IL1B IL17A CD4
25 11.73 VEGFA PAX6 FGF2
26 11.68 MMP9 IL1B IL17A CXCL1
27 11.64 VEGFA MMP9 FGF2
28 11.61 MMP9 IL1B FGF2 CXCL2
29
Show member pathways
11.52 VEGFA MMP9 MIF IL1B CXCL2
30 11.51 IL1B CXCL2 CXCL1
31 11.51 TLR4 MMP9 MIF IL1B CXCL2 CXCL1
32 11.49 TLR4 TLR2 IL1B
33 11.4 TLR4 TLR2 IL1B CXCL2 CXCL1
34 11.24 TLR4 TLR2 PECAM1 IL1B ACKR1
35 11.18 IL1B IL17A CXCL2 CXCL1
36 11.17 IL1B CXCL2 CXCL1 CD4
37 11.16 TLR2 MMP9 IL1B
38 11.13 VEGFA MMP9 FGF2
39 11.07 VEGFA TLR4 TLR2 IL1B IL17A CXCL1
40 10.98 IL1B IL17A FGF2 CXCL2 CXCL1
41 10.75 TLR4 MIF

GO Terms for Keratitis, Hereditary

Cellular components related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 VEGFA TLR4 TLR2 MIF CD4
2 extracellular space GO:0005615 9.28 VEGFA PECAM1 MMP9 MIF IL1B IL17A

Biological processes related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.98 VEGFA TLR4 TLR2 PAX6 IL1B
2 response to lipopolysaccharide GO:0032496 9.83 TLR4 TLR2 IL1B GJB2
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.82 VEGFA MIF CD4
4 cellular response to lipopolysaccharide GO:0071222 9.81 TLR4 IL1B CXCL2 CXCL1
5 neutrophil chemotaxis GO:0030593 9.8 IL1B CXCL2 CXCL1
6 chemokine-mediated signaling pathway GO:0070098 9.77 CXCL2 CXCL1 ACKR1
7 positive regulation of MAP kinase activity GO:0043406 9.77 VEGFA MIF FGF2
8 leukocyte migration GO:0050900 9.75 PECAM1 MIF IL1B
9 positive regulation of interleukin-6 production GO:0032755 9.74 TLR4 TLR2 IL1B
10 positive regulation of tumor necrosis factor production GO:0032760 9.72 TLR4 TLR2 MIF
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.71 TLR4 TLR2 IL1B
12 immune response GO:0006955 9.7 TLR4 TLR2 IL1B IL17A CXCL2 CXCL1
13 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.67 TLR4 IL17A
14 macrophage differentiation GO:0030225 9.67 VEGFA MMP9
15 response to estradiol GO:0032355 9.67 GJB2 CD4
16 positive regulation of cell division GO:0051781 9.67 VEGFA IL1B FGF2
17 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.66 TLR4 TLR2
18 wound healing GO:0042060 9.65 PECAM1 FGF2
19 positive regulation of interleukin-2 biosynthetic process GO:0045086 9.65 IL1B CD4
20 positive chemotaxis GO:0050918 9.65 VEGFA MIF FGF2
21 positive regulation of protein phosphorylation GO:0001934 9.65 VEGFA MMP9 MIF IL1B CD4
22 response to molecule of bacterial origin GO:0002237 9.64 TLR2 CXCL2
23 I-kappaB phosphorylation GO:0007252 9.63 TLR4 TLR2
24 cell recognition GO:0008037 9.62 PECAM1 CLEC7A
25 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.62 TLR4 MIF FGF2 CD4
26 cellular response to lipoteichoic acid GO:0071223 9.61 TLR4 TLR2
27 lipopolysaccharide-mediated signaling pathway GO:0031663 9.61 TLR4 TLR2 IL1B
28 positive regulation of interleukin-8 production GO:0032757 9.58 TLR4 TLR2 IL1B
29 cytokine-mediated signaling pathway GO:0019221 9.56 VEGFA MMP9 IL1B IL17A FGF2 CXCL2
30 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.37 TLR4 TLR2
31 regulation of cytokine secretion GO:0050707 9.35 TLR2
32 negative regulation of neural precursor cell proliferation GO:2000178 9.33 PAX6
33 inflammatory response GO:0006954 9.28 TLR4 TLR2 MIF IL1B IL17A CXCL2
34 signal transduction GO:0007165 10.11 TLR4 TLR2 PECAM1 IL1B GDI1 FGF2
35 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 VEGFA TLR4 TLR2 PAX6 IL1B IL17A
36 immune system process GO:0002376 10.06 TLR4 TLR2 MIF CLEC7A CD4
37 neutrophil degranulation GO:0043312 10 TLR2 PECAM1 MMP9 MIF CXCL1

Molecular functions related to Keratitis, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 VEGFA TLR4 TLR2 MMP9 MIF GJB2
2 signaling receptor activity GO:0038023 9.62 TLR4 TLR2 CD4 ACKR1
3 signaling pattern recognition receptor activity GO:0008329 9.37 TLR2 CLEC7A
4 cytokine activity GO:0005125 9.17 VEGFA MIF IL1B IL17A FGF2 CXCL2
5 lipopolysaccharide receptor activity GO:0001875 9.16 TLR4 TLR2
6 chemoattractant activity GO:0042056 9.13 VEGFA MIF FGF2
7 protein binding GO:0005515 10.31 VEGFA TLR4 TLR2 TAT PECAM1 PAX6

Sources for Keratitis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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