KERH
MCID: KRT019
MIFTS: 67

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 56 52 29 6 43 39 71
Keratitis 56 12 13 54 43 15 17 71 32
Autosomal Dominant Keratitis 12 58 73 36
Hereditary Keratitis 12 58
Dominantly Inherited Keratitis 52
Keratitis, Autosomal Dominant 6
Keratitis Hereditary 73
Kerh 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant keratitis
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
keratitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111383 DOID:4677
OMIM 56 148190
KEGG 36 H01273
ICD9CM 34 370 370.9
NCIt 49 C26805
SNOMED-CT 67 5888003
ICD10 32 H16 H16.9
MESH via Orphanet 44 C537022
ICD10 via Orphanet 33 H16.8
UMLS via Orphanet 72 C1835698
Orphanet 58 ORPHA2334
MedGen 41 C1835698
SNOMED-CT via HPO 68 246957002 263681008
UMLS 71 C0022568 C1835698

Summaries for Keratitis, Hereditary

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2334 Definition Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. Epidemiology The prevalence is unknown. Clinical description The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia. Etiology The 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 herpes simplex virus keratitis, 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 ERK Signaling. The drugs Hydrocortisone acetate 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 : 56 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 : 36 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 : 73 Keratitis hereditary: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

Wikipedia : 74 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 895)
# Related Disease Score Top Affiliating Genes
1 fungal keratitis 34.8 TLR4 TLR2 MMP9
2 herpes simplex virus keratitis 34.1 TAT CD4
3 severe cutaneous adverse reaction 32.9 PAX6 KRT3 CD4
4 keratoconjunctivitis 32.3 MMP9 IL6 IL17A
5 corneal neovascularization 32.1 VEGFA KRT3 FGF2 CRYAA
6 hypopyon 31.8 VEGFA IL6 IL17A CD4
7 conjunctivitis 31.8 MMP9 IL6 CXCL9
8 iridocyclitis 31.7 IL6 IL17A CD4
9 endophthalmitis 31.6 VEGFA TLR2 IL6 CRYAA CD4
10 chickenpox 31.6 IL6 CD4 CCR6
11 iritis 31.5 IL6 CD4 CCR6
12 syphilis 31.5 IL17A CD4 CCR6
13 blepharitis 31.3 MMP9 IL6 CD4 CCR6
14 candidiasis 31.3 TLR4 TLR2 IL6 IL17A
15 cataract 31.2 VEGFA PAX6 IL6 FGF2 ELP4 CRYAA
16 rosacea 31.1 VEGFA TLR2 MMP9 IL6 CCR6
17 dacryoadenitis 31.1 IL17A CD4 CCR6
18 chlamydia 31.1 TLR4 TLR2 IL6 IL17A
19 chorioretinitis 31.0 VEGFA IL6 IL17A CD4
20 exanthem 31.0 VEGFA IL6 CD4 CCR6
21 cellulitis 31.0 IL6 CD4 CCR6
22 autoimmune disease 31.0 MMP9 MIF IL6 IL17A CCR6
23 neurofibromatosis, type ii 30.9 TLR2 IL6 CCR6
24 dry eye syndrome 30.9 IL6 FGF2 CRYAA CCR6
25 sarcoidosis 1 30.9 MIF CXCL9 CD4 CCR6
26 pseudopterygium 30.9 PAX6 KRT3
27 lyme disease 30.9 TLR2 MMP9 IL6 IL17A
28 allergic hypersensitivity disease 30.8 TLR4 TLR2 IL17A CD4 CCR6
29 retinal detachment 30.8 VEGFA MMP9 IL6 FGF2
30 aniridia 1 30.8 PAX6 LOC106014249 KRT3 ELP4 CRYAA
31 streptococcus pneumonia 30.8 TLR4 TLR2 IL6 IL17A CD4
32 dermatophytosis 30.7 IL17A CD4 CCR6
33 dermatitis 30.7 TLR4 TLR2 IL6 IL17A CXCL9 CCR6
34 genital herpes 30.7 TLR2 CD4 CCR6
35 trachoma 30.6 VEGFA IL6 IL17A
36 chronic conjunctivitis 30.6 IL6 CD4 CCR6
37 meningoencephalitis 30.6 IL6 CXCL2 CD4 CCR6
38 chronic mucocutaneous candidiasis 30.6 TLR2 IL6 IL17A CD4 CCR6
39 lichen planus 30.6 IL6 IL17A CXCL9
40 eye disease 30.6 VEGFA TLR4 TLR2 PAX6 MMP9 IL6
41 neurosyphilis 30.6 TLR2 IL17A
42 granulomatosis with polyangiitis 30.6 TLR4 TLR2 MIF IL17A CD4 CCR6
43 bacterial infectious disease 30.6 TLR4 TLR2 MIF IL6 IL17A CXCL9
44 reactive arthritis 30.6 TLR4 TLR2 IL6 IL17A CCR6
45 hypotrichosis 30.6 VEGFA GJB2 CD4 CCR6
46 corneal disease 30.5 VEGFA TLR4 TLR2 PAX6 MMP9 KRT3
47 stomatitis 30.5 TLR4 TLR2 IL6 CD4
48 contact dermatitis 30.5 TLR4 TLR2 IL6 IL17A CD4
49 oral candidiasis 30.5 IL17A CD4 CCR6
50 endocarditis 30.5 TLR2 IL6 IL17A

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:

31
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 31 HP:0007759
2 keratitis 31 HP:0000491

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Keratitis, Hereditary:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CCR6 CXCL2 FGF2 GJB2 IL6 MMP9
2 immune system MP:0005387 10 CCR6 CD4 GJB2 IL17A IL6 MIF
3 digestive/alimentary MP:0005381 9.92 CD4 IL17A IL6 MMP9 PAX6 TLR2
4 integument MP:0010771 9.81 CD4 GJB2 IL17A IL6 MMP9 PAX6
5 neoplasm MP:0002006 9.56 FGF2 IL6 MIF MMP9 PAX6 TLR2
6 nervous system MP:0003631 9.36 CCR6 CD4 FGF2 GJB2 IL6 MIF

Drugs & Therapeutics for Keratitis, Hereditary

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

(show top 50) (show all 229)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
2
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
3
Bisoprolol Approved Phase 4 66722-44-9 2405
4
Ranibizumab Approved Phase 4 347396-82-1 459903
5
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Acyclovir Approved Phase 4 59277-89-3 2022
10
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
11 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
12
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
13
Difluprednate Approved Phase 4 23674-86-4 443936
14
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
15
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
16
Polyestradiol phosphate Approved Phase 4 28014-46-2
17
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
18
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538 444795
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
20
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
21
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
22 Autonomic Agents Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Gastrointestinal Agents Phase 4
25 Cathartics Phase 4
26 Laxatives Phase 4
27 Carboxymethylcellulose Sodium Phase 4
28 Hydrocortisone hemisuccinate Phase 4
29 Hydrocortisone-17-butyrate Phase 4
30 Hydrocortisone 17-butyrate 21-propionate Phase 4
31 Adrenergic beta-1 Receptor Antagonists Phase 4
32 Sympatholytics Phase 4
33 Angiogenesis Inhibitors Phase 4
34 Liposomal amphotericin B Phase 4
35 Antiparasitic Agents Phase 4
36 Antiprotozoal Agents Phase 4
37 Vitamins Phase 4
38 Vitamin B Complex Phase 4
39 Vitamin B2 Phase 4
40 Vitamin B9 Phase 4
41 Dermatologic Agents Phase 4
42 Folate Phase 4
43 Photosensitizing Agents Phase 4
44 Topoisomerase Inhibitors Phase 4
45 Antibiotics, Antitubercular Phase 4
46 Antiviral Agents Phase 4
47 Methylprednisolone Acetate Phase 4
48 glucocorticoids Phase 4
49 Norgestimate, ethinyl estradiol drug combination Phase 4
50 valacyclovir Phase 4

Interventional clinical trials:

(show top 50) (show all 147)
# Name Status NCT ID Phase Drugs
1 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 Unknown status NCT03237936 Phase 4 1mg/mL ciclosporin
2 Evaluation of Tear Osmolarity Over Time With Sustained Use of Thera Tears Lubricating Completed NCT02758327 Phase 4 TheraTears Lubricating Eye Drops
3 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
4 Steroids for Corneal Ulcers Trial Completed NCT00324168 Phase 4 Antibiotics;Topical corticosteroid;Placebo
5 The Effects of BAK on the Blood Aqueous Barrier of Pseudophakic Patients Completed NCT01280110 Phase 4 Hydroxypropylmethylcellulose;Carboxymethylcellulose
6 Bisoprolol Versus Corticosteroid and Bisoprolol Combination for Prophylaxis Against Atrial Fibrillation After on Pump Coronary Artery Bypass Surgery Completed NCT03800264 Phase 4 Bisoprolol
7 Intravitreal Aflibercept (VEGF Trap-Eye) in Neovascular Age-related Macular Degeneration With Limited Response to Ranibizumab Completed NCT02309281 Phase 4 aflibercept 2mg
8 A Multicenter, Open-label Study to Assess the Efficacy and Safety of Acthar® Gel in Subjects With Severe Keratitis Recruiting NCT04169061 Phase 4 Acthar
9 Cross-linking for Corneal Ulcers Treatment Trial Recruiting NCT02570321 Phase 4
10 Long-term Suppressive Valacyclovir Treatment for Herpes Zoster Ophthalmicus Recruiting NCT03134196 Phase 4 Masked Placebo;Masked Oral Valacyclovir
11 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
12 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
13 Steroids and Cross-linking for Ulcer Treatment Not yet recruiting NCT04097730 Phase 4 Moxifloxacin Ophthalmic;Difluprednate Ophthalmic;Riboflavin Ophthalmic
14 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
15 Topical Timolol for the Treatment of Benign Vascular Periocular Lesions Withdrawn NCT01250457 Phase 4 topical Timolol
16 Efficacy of Repository Corticotropin Injection in Patients With Severe and Recalcitrant Keratoconjunctivitis Sicca Withdrawn NCT03398018 Phase 4 repository corticotropin injection
17 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
18 Effectiveness of Corneal Accelerated Crosslinking Versus Conventional Treatment for Infectious Keratitis Unknown status NCT02865876 Phase 3
19 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
20 Efficacy and Safety Assessment of T4020 Versus Vehicule in Patients With Chronic Neurotrophic Keratitis or Corneal Ulcer Completed NCT01794312 Phase 3
21 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
22 Mycotic Antimicrobial Localized Injection for Treatment of Corneal Ulcers Completed NCT02731638 Phase 3 Intrastromal voriconazole;Natamycin
23 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir
24 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
25 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
26 Mycotic Ulcer Treatment Trial Completed NCT00996736 Phase 3 Natamycin;Voriconazole
27 The Mycotic Ulcer Treatment Trial II: A Randomized Trial Comparing Oral Voriconazole vs Placebo Completed NCT00997035 Phase 3 Voriconazole;Placebo
28 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
29 A Phase IIIb, Prospective, Interventional, Multicentre, 3-year Study to Explore the Long-term Evolution of Sign and Symptoms, and Occurence of Complications in Dry Eye Patients With Severe Keratitis Receiving Ikervis® (1mg/mL Ciclosporin) Recruiting NCT04144413 Phase 3 Open-label Ikervis;Masked Ikervis
30 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%
31 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)
32 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%
33 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
34 Effect of Topical Glaucoma Therapy on Tear Film Stability in Healthy Subjects Terminated NCT01746602 Phase 3 Timoptic® 0.5%;Timophtal sine® 0.5%
35 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%
36 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)
37 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
38 Collagen Cross-linking in Infectious Keratitis Trial Completed NCT01831206 Phase 2
39 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
40 Mycotic Ulcer Treatment Trial Therapeutic Exploratory Study Completed NCT00557362 Phase 1, Phase 2 Natamycin 5%;Voriconazole
41 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
42 Mucin Balls and Corneal Inflammation Events Completed NCT01437319 Phase 1, Phase 2
43 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)
44 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
45 A Clinical Trial of Povidone-Iodine for the Treatment of Bacterial Corneal Ulcers Completed NCT00386958 Phase 2 Povidone-Iodine
46 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
47 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
48 Parasitic Ulcer Treatment Trial Pilot Recruiting NCT03484507 Phase 2 Chlorhexidine;Povidone-Iodine;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose;Prednisolone Sodium Phosphate;Hydroxypropyl Methylcellulose
49 A Randomized, Double-masked, Vehicle-controlled Study Evaluating the Efficacy and Safety of Two Doses of OCS 01 Compared to Vehicle in the Treatment of Inflammation and Pain Following Cataract Surgery Recruiting NCT04130802 Phase 2 OCS-01 - Dexamethasone Cyclodextrin Nanoparticle Ophthalmic Suspension 1.5% mg/mL;Placebo
50 Safety and Feasibility of Cultivated Autologous Limbal Epithelial Cell Transplantation in the Treatment of Limbal Stem Cell Deficiency (LSCD) Recruiting NCT02592330 Phase 1, Phase 2

Search NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Loteprednol
loteprednol etabonate
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:

40
Eye, Endothelial, T Cells, Skin, Testes, Neutrophil, Bone

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

(show top 50) (show all 13609)
# Title Authors PMID Year
1
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. 54 61 56 6
7668281 1995
2
Autosomal dominant keratitis: a possible aniridia variant. 61 56 6
7627897 1995
3
Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. 61 56
1951425 1991
4
Dominantly inherited keratitis. 61 56
3778274 1986
5
Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome. 56
4069606 1985
6
Corneal involvement in epidermolysis bullosa simplex. 56
7362501 1980
7
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. 54 61
20230788 2010
8
Toll-like receptors involved in the pathogenesis of experimental Candida albicans keratitis. 54 61
19933194 2010
9
Chemokine CXCL1/KC and its receptor CXCR2 are responsible for neutrophil chemotaxis in adenoviral keratitis. 54 61
19642907 2009
10
Activation of Toll-like receptors 2 and 4 in Aspergillus fumigatus keratitis. 54 61
19474209 2009
11
A human apolipoprotein E mimetic peptide effectively inhibits HSV-1 TK-positive and TK-negative acute epithelial keratitis in rabbits. 54 61
19219680 2009
12
Expression of toll-like receptors in the Fusarium solani infected cornea. 54 61
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. 54 61
16917729 2006
14
Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad. 54 61
16172043 2005
15
Role and regulation of CXC-chemokines in acute experimental keratitis. 54 61
12565810 2003
16
IL-17 expression in human herpetic stromal keratitis: modulatory effects on chemokine production by corneal fibroblasts. 54 61
12421973 2002
17
Expression of macrophage migration inhibitory factor during Pseudomonas keratitis. 54 61
11446464 2001
18
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 54 61
11309364 2001
19
PAX6 mutations reviewed. 54 61
9482572 1998
20
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review. 54 61
7648039 1995
21
Corneal aldehyde dehydrogenase, glutathione reductase, and glutathione S-transferase in pathologic corneas. 54 61
8339559 1993
22
Antagonists and inhibitors of lipid mediators in experimental inflammation of the cornea. 54 61
8106842 1993
23
Induction of autoantibodies to rat corneal protein 54. 54 61
1563095 1992
24
Detection of herpes simplex virus DNA sequences in corneal transplant recipients by polymerase chain reaction assays. 54 61
1650662 1991
25
Cell mediated immunity in herpes simplex keratitis in man. 54 61
2275344 1990
26
The influence of a fish oil dietary supplement on immunogenic keratitis. 54 61
1696943 1990
27
Corneal Collagen Cross-Linking With Photoactivated Chromophore for Infectious Keratitis After Penetrating Keratoplasty. 61
31764287 2020
28
Surgical management of bilateral, upper and lower eyelid entropion in 27 Shar Pei dogs, using the Stades forced granulation procedure of the upper eyelid only. 61
31738860 2020
29
Contact lens associated keratitis due to Tintelnotia destructans. 61
31879585 2020
30
Femtosecond Laser-Assisted Penetrating Keratoplasty for Treating Infective Keratitis. 61
31574048 2020
31
Safety of intrastromal injection of polyhexamethylene biguanide and propamidine isethionate in a rabbit model. 61
31956437 2020
32
Microsporidial stromal keratitis in a cat. 61
31993317 2020
33
Colletotrichum Keratitis: a rare yet important fungal infection of human eyes. 61
32022938 2020
34
Pressure-Induced Interlamellar Stromal Keratitis After Small-Incision Lenticule Extraction Procedure: A Case Report. 61
31688202 2020
35
Clinical features and serial changes of Acanthamoeba keratitis: an in vivo confocal microscopy study. 61
31292523 2020
36
[The Use of Therapeutic and Optical Contact Lenses in Perforated Rosacea Keratitis]. 61
32016936 2020
37
Histone Deacetylase Inhibitors Enhance the Amoebicidal Effect of Low Concentration of Polyhexamethylene Biguanide by Inducing Apoptosis. 61
31724982 2020
38
Clinical Features of Ocular Syphilis: a Retrospective Clinical Study in an Italian Referral Centre. 61
32036734 2020
39
Extracellular protease profile of Acanthamoeba after prolonged axenic culture and after interaction with MDCK cells. 61
31848745 2020
40
Characterisation of the β-lactam resistance enzyme in Acanthamoeba castellanii. 61
31622653 2020
41
Genotyping and phylogenetic analysis of Pythium insidiosum causing human corneal ulcer. 61
31073609 2020
42
Real-world experience of dupilumab treatment for atopic dermatitis in adults: a retrospective analysis of patients' records. 61
31286499 2020
43
Acanthamoeba mauritaniensis genotype T4D: An environmental isolate displays pathogenic behavior. 61
31669294 2020
44
Topical Vancomycin 5% Is More Efficacious Than 2.5% and 1.25% for Reducing Viable Methicillin-Resistant Staphylococcus aureus in Infectious Keratitis. 61
31658169 2020
45
Atypical severe diffuse lamellar keratitis presenting as concentric rings after femtosecond laser-assisted small-incision lenticule extraction (SMILE). 61
32035631 2020
46
Glucocorticoids May Exacerbate Fungal Keratitis by Increasing Fungal Aggressivity and Inhibiting the Formation of Neutrophil Extracellular Traps. 61
31429304 2020
47
Reduced administration frequency for the treatment of fungal keratitis: a sustained natamycin release from a micellar solution. 61
32009483 2020
48
Diagnostic information Profiling and Evaluation of Causative Fungi of Fungal Keratitis Using High-throughput Internal Transcribed Spacer Sequencing. 61
32015395 2020
49
Dupilumab Therapy in a Patient with Atopic Dermatitis and Severe Atopic Keratoconjunctivitis. 61
32031716 2020
50
Cross-Linking-Assisted Infection Reduction: A Randomized Clinical Trial Evaluating the Effect of Adjuvant Cross-Linking on Outcomes in Fungal Keratitis. 61
31619359 2020

Variations for Keratitis, Hereditary

ClinVar genetic disease variations for Keratitis, Hereditary:

6 (show top 50) (show all 87) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6):c.917-2A>TSNV Pathogenic 3469 rs587776571 11:31815103-31815103 11:31793555-31793555
2 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
3 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
4 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
5 PAX6 NM_019040.5(ELP4):c.*2334T>GSNV Uncertain significance 304299 rs886048183 11:31807406-31807406 11:31785858-31785858
6 PAX6 NM_019040.5(ELP4):c.*2407C>ASNV Uncertain significance 304300 rs886048184 11:31807479-31807479 11:31785931-31785931
7 PAX6 NM_019040.5(ELP4):c.*3703_*3705deldeletion Uncertain significance 304320 rs886048189 11:31808775-31808777 11:31787227-31787229
8 PAX6 NM_019040.5(ELP4):c.*4889G>ASNV Uncertain significance 304337 rs886048196 11:31809961-31809961 11:31788413-31788413
9 PAX6 NM_019040.5(ELP4):c.*5016T>GSNV Uncertain significance 304339 rs776894983 11:31810088-31810088 11:31788540-31788540
10 PAX6 NM_000280.4(PAX6):c.142-8C>TSNV Uncertain significance 304360 rs886048203 11:31823332-31823332 11:31801784-31801784
11 PAX6 NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTGindel Uncertain significance 304290 rs886048180 11:31806561-31806563 11:31785013-31785015
12 PAX6 NM_019040.5(ELP4):c.*2049A>GSNV Uncertain significance 304296 rs886048181 11:31807121-31807121 11:31785573-31785573
13 PAX6 NM_019040.5(ELP4):c.*2502G>ASNV Uncertain significance 304302 rs886048185 11:31807574-31807574 11:31786026-31786026
14 PAX6 NM_019040.5(ELP4):c.*3859G>ASNV Uncertain significance 304323 rs886048190 11:31808931-31808931 11:31787383-31787383
15 PAX6 NM_019040.5(ELP4):c.*4017A>GSNV Uncertain significance 304329 rs886048193 11:31809089-31809089 11:31787541-31787541
16 PAX6 NM_019040.5(ELP4):c.*4023C>ASNV Uncertain significance 304330 rs886048194 11:31809095-31809095 11:31787547-31787547
17 PAX6 NM_019040.5(ELP4):c.*4025C>GSNV Uncertain significance 304331 rs886048195 11:31809097-31809097 11:31787549-31787549
18 PAX6 NM_019040.5(ELP4):c.*5357A>GSNV Uncertain significance 304343 rs886048197 11:31810429-31810429 11:31788881-31788881
19 PAX6 NM_019040.5(ELP4):c.*5471T>CSNV Uncertain significance 304344 rs886048198 11:31810543-31810543 11:31788995-31788995
20 PAX6 NM_019040.5(ELP4):c.*6054A>TSNV Uncertain significance 304350 rs774392481 11:31811126-31811126 11:31789578-31789578
21 PAX6 NM_019040.5(ELP4):c.*6075A>GSNV Uncertain significance 304351 rs766518284 11:31811147-31811147 11:31789599-31789599
22 PAX6 NM_019040.5(ELP4):c.*6203C>TSNV Uncertain significance 304353 rs886048199 11:31811275-31811275 11:31789727-31789727
23 PAX6 NM_019040.5(ELP4):c.*6227dupduplication Uncertain significance 304354 rs886048200 11:31811298-31811299 11:31789750-31789751
24 PAX6 NM_000280.4(PAX6):c.-368G>ASNV Uncertain significance 304366 rs886048206 11:31832714-31832714 11:31811166-31811166
25 PAX6 NM_000280.4(PAX6):c.-501deldeletion Uncertain significance 304368 rs886048208 11:31832847-31832847 11:31811299-31811299
26 PAX6 NM_019040.5(ELP4):c.*1877A>GSNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401
27 PAX6 NM_019040.5(ELP4):c.*2282G>ASNV Uncertain significance 304298 rs886048182 11:31807354-31807354 11:31785806-31785806
28 PAX6 NM_000280.4(PAX6):c.-59G>TSNV Uncertain significance 304361 rs886048204 11:31828404-31828404 11:31806856-31806856
29 PAX6 NM_000280.4(PAX6):c.-147_-146dupduplication Uncertain significance 304363 rs886048205 11:31832392-31832393 11:31810844-31810845
30 PAX6 NM_019040.5(ELP4):c.*3920C>TSNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
31 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Uncertain significance 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
32 PAX6 NM_019040.5(ELP4):c.*6184A>GSNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
33 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Uncertain significance 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
34 PAX6 NM_000280.4(PAX6):c.-507T>CSNV Uncertain significance 304369 rs886048209 11:31832853-31832853 11:31811305-31811305
35 PAX6 NM_019040.5(ELP4):c.*2710_*2711CA[2]short repeat Uncertain significance 304306 rs886048186 11:31807781-31807782 11:31786233-31786234
36 PAX6 NM_019040.5(ELP4):c.*3504T>CSNV Uncertain significance 304315 rs886048187 11:31808576-31808576 11:31787028-31787028
37 PAX6 NM_019040.5(ELP4):c.*3523deldeletion Uncertain significance 304318 rs886048188 11:31808595-31808595 11:31787047-31787047
38 PAX6 NM_019040.5(ELP4):c.*3978T>CSNV Uncertain significance 304326 rs886048192 11:31809050-31809050 11:31787502-31787502
39 PAX6 NM_019040.5(ELP4):c.*6053T>ASNV Uncertain significance 304348 rs774473337 11:31811125-31811125 11:31789577-31789577
40 PAX6 NM_019040.5(ELP4):c.*6067deldeletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
41 PAX6 NM_019040.5(ELP4):c.*6303C>GSNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827
42 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg)SNV Uncertain significance 304358 rs886048202 11:31816313-31816313 11:31794765-31794765
43 PAX6 NM_000280.4(PAX6):c.-430G>CSNV Uncertain significance 304367 rs886048207 11:31832776-31832776 11:31811228-31811228
44 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Likely benign 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
45 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Likely benign 304346 rs530931929 11:31810641-31810641 11:31789093-31789093
46 PAX6 NM_019040.5(ELP4):c.*5993G>ASNV Likely benign 304347 rs55756603 11:31811065-31811065 11:31789517-31789517
47 PAX6 NM_019040.5(ELP4):c.*2740G>ASNV Likely benign 304307 rs149777109 11:31807812-31807812 11:31786264-31786264
48 PAX6 NM_019040.5(ELP4):c.*2040G>CSNV Likely benign 304295 rs183115097 11:31807112-31807112 11:31785564-31785564
49 PAX6 NM_019040.5(ELP4):c.*3713A>TSNV Likely benign 304322 rs138881442 11:31808785-31808785 11:31787237-31787237
50 PAX6 NM_019040.5(ELP4):c.*3904G>ASNV Likely benign 304324 rs3026397 11:31808976-31808976 11:31787428-31787428

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 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 VEGFA TLR4 TLR2 MMP9 MIF IL6
2
Show member pathways
13.8 VEGFA PAX6 IL6 IL17A FGF2 CXCL9
3
Show member pathways
13.66 TLR4 MIF IL6 IL17A CXCL9 CXCL2
4
Show member pathways
13.34 TLR4 TLR2 IL6 IL17A FGF2 CXCL9
5
Show member pathways
13.33 VEGFA MMP9 IL6 IL17A FGF2 CXCL2
6
Show member pathways
13.27 IL6 IL17A FGF2 CXCL9 CXCL2 CXCL1
7
Show member pathways
12.82 VEGFA IL6 IL17A CXCL9 CD4
8
Show member pathways
12.8 VEGFA TLR4 TLR2 IL6 FGF2 CXCL2
9
Show member pathways
12.58 TLR4 TLR2 IL6 IL17A CD4
10
Show member pathways
12.57 TLR4 TLR2 IL6 IL17A CD4
11
Show member pathways
12.56 IL6 IL17A FGF2 CXCL9 CXCL1 CD4
12
Show member pathways
12.31 IL6 CXCL9 CXCL2 CXCL1 CCR6
13 12.27 VEGFA TLR4 TLR2 MMP9 FGF2
14
Show member pathways
12.24 TLR2 MMP9 IL6 IL17A CXCL2 CXCL1
15 12.22 TLR4 IL6 CXCL2 CXCL1
16 12.14 VEGFA TLR4 TLR2 MMP9 IL6
17 12.05 VEGFA PAX6 IL6 FGF2
18
Show member pathways
12.02 TLR4 TLR2 IL6 IL17A CD4
19
Show member pathways
12.01 TLR4 TLR2 MMP9 IL6
20 11.96 MMP9 IL6 CXCL2 CXCL1
21 11.93 VEGFA MMP9 IL6 IL17A FGF2
22 11.86 TLR4 TLR2 IL6 CXCL2 CXCL1
23
Show member pathways
11.85 TLR4 IL6 IL17A CXCL1
24 11.76 TLR4 IL6 CXCL2 CXCL1
25 11.75 IL17A CD4 CCR6
26 11.75 VEGFA PAX6 FGF2
27 11.65 VEGFA MMP9 FGF2
28 11.64 MMP9 IL6 FGF2 CXCL2
29 11.57 MMP9 IL6 IL17A CXCL9 CXCL1
30 11.53 TLR4 TLR2 IL6
31 11.52 IL6 CXCL2 CXCL1
32 11.51 VEGFA IL6 FGF2
33 11.51 TLR4 MMP9 MIF IL6 CXCL2 CXCL1
34
Show member pathways
11.45 VEGFA MMP9 MIF IL6 CXCL2
35 11.31 TLR4 TLR2 IL6 CXCL2 CXCL1
36 11.15 VEGFA MMP9 FGF2
37 11.14 VEGFA TLR4 TLR2 IL6 IL17A CXCL2
38 11.13 IL6 CXCL2 CXCL1 CD4
39 11 IL6 IL17A FGF2 CXCL9 CXCL2 CXCL1
40 10.76 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 extracellular region GO:0005576 9.91 VEGFA MMP9 MIF IL6 IL17A FGF2
2 external side of plasma membrane GO:0009897 9.55 TLR4 IL17A CXCL9 CD4 CCR6
3 cell surface GO:0009986 9.43 VEGFA TLR4 TLR2 MIF CD4 CCR6
4 extracellular space GO:0005615 9.28 VEGFA MMP9 MIF IL6 IL17A FGF2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.16 VEGFA TLR4 TLR2 IL6 FGF2 CXCL9
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 VEGFA TLR4 TLR2 PAX6 IL6 IL17A
3 positive regulation of gene expression GO:0010628 10.01 VEGFA TLR4 TLR2 PAX6 IL6
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.91 TLR4 MIF FGF2 CD4
5 positive regulation of protein phosphorylation GO:0001934 9.87 VEGFA MMP9 MIF CD4
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.82 VEGFA MIF IL6
7 neutrophil chemotaxis GO:0030593 9.8 CXCL9 CXCL2 CXCL1
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.78 VEGFA MIF IL6 CD4
9 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.77 CXCL9 CXCL2 CXCL1
10 positive regulation of MAP kinase activity GO:0043406 9.76 VEGFA MIF FGF2
11 inflammatory response GO:0006954 9.76 TLR4 TLR2 MIF IL6 IL17A CXCL9
12 positive regulation of interleukin-6 production GO:0032755 9.75 TLR4 TLR2 IL6
13 positive regulation of tumor necrosis factor production GO:0032760 9.73 TLR4 TLR2 MIF
14 positive chemotaxis GO:0050918 9.72 VEGFA MIF FGF2
15 cellular response to lipopolysaccharide GO:0071222 9.72 TLR4 IL6 CXCL9 CXCL2 CXCL1
16 positive regulation of interleukin-6 secretion GO:2000778 9.71 TLR4 TLR2 IL17A
17 leukocyte chemotaxis GO:0030595 9.67 CXCL9 CXCL2 CXCL1
18 chemokine-mediated signaling pathway GO:0070098 9.67 CXCL9 CXCL2 CXCL1 CCR6
19 chemotaxis GO:0006935 9.65 FGF2 CXCL9 CXCL2 CXCL1 CCR6
20 I-kappaB phosphorylation GO:0007252 9.64 TLR4 TLR2
21 response to molecule of bacterial origin GO:0002237 9.63 TLR2 CXCL2
22 regulation of neuroinflammatory response GO:0150077 9.62 MMP9 IL6
23 cellular response to lipoteichoic acid GO:0071223 9.62 TLR4 TLR2
24 positive regulation of chemokine production GO:0032722 9.61 TLR4 TLR2 IL6
25 immune response GO:0006955 9.61 TLR4 TLR2 IL6 IL17A CXCL9 CXCL2
26 macrophage differentiation GO:0030225 9.58 VEGFA MMP9 CD4
27 positive regulation of matrix metallopeptidase secretion GO:1904466 9.52 TLR4 TLR2
28 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.51 TLR4 TLR2
29 cytokine-mediated signaling pathway GO:0019221 9.23 VEGFA MMP9 IL6 IL17A FGF2 CXCL2

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.71 TLR4 TLR2 CD4 CCR6
2 growth factor activity GO:0008083 9.62 VEGFA IL6 FGF2 CXCL1
3 identical protein binding GO:0042802 9.56 VEGFA TLR4 TLR2 MMP9 MIF GJB2
4 chemokine activity GO:0008009 9.54 CXCL9 CXCL2 CXCL1
5 chemoattractant activity GO:0042056 9.33 VEGFA MIF FGF2
6 lipopolysaccharide receptor activity GO:0001875 9.26 TLR4 TLR2
7 cytokine activity GO:0005125 9.23 VEGFA MIF IL6 IL17A FGF2 CXCL9

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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