MCID: KRT019
MIFTS: 52

Keratitis, Hereditary

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Keratitis, Hereditary

MalaCards integrated aliases for Keratitis, Hereditary:

Name: Keratitis, Hereditary 57 53 29 6 40 73
Keratitis 57 12 29 13 55 44 15 73
Autosomal Dominant Keratitis 59 75 37
Dominantly Inherited Keratitis 53
Keratitis, Autosomal Dominant 6
Hereditary Keratitis 59
Keratitis Hereditary 75
Kerh 75

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:

OMIM 57 148190
Disease Ontology 12 DOID:4677
ICD10 33 H16 H16.9
ICD9CM 35 370 370.9
MeSH 44 D007634
NCIt 50 C26805
Orphanet 59 ORPHA2334
ICD10 via Orphanet 34 H16.8
MESH via Orphanet 45 C537022
UMLS via Orphanet 74 C1835698
MedGen 42 C1835698
KEGG 37 H01273
SNOMED-CT via HPO 69 263681008 246957002

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: 2334Disease definitionHereditary 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 kid syndrome and chlamydia, 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. Affiliated tissues include eye, and related phenotypes are keratitis and opacification of the corneal stroma

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)

UniProtKB/Swiss-Prot : 75 Keratitis hereditary: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.

CDC : 3 Get Email Updates

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

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 368)
# Related Disease Score Top Affiliating Genes
1 kid syndrome 33.9 GJB2 GJB6
2 chlamydia 30.0 IL1B TLR2 TLR4
3 genital herpes 30.0 ACKR1 TLR2 TLR9
4 rosacea 30.0 MMP9 TLR2 VEGFA
5 lyme disease 29.9 IL17A IL1B TLR2
6 corneal disease 29.8 FGF2 GJB2 GJB6 TLR9 VEGFA
7 toxic shock syndrome 29.8 IL1B TLR2 TLR4
8 leishmaniasis 29.5 IL1B TLR2 TLR4 TLR9
9 arthritis 29.2 IL17A IL1B MIF MMP9
10 peritonitis 29.0 CXCL2 IL1B TLR2
11 meningitis 27.6 CXCL1 IL1B MMP9 TLR2 TLR9
12 pneumonia 27.5 CXCL1 CXCL2 IL1B TLR2 TLR4 TLR9
13 inflammatory bowel disease 26.9 CXCL1 IL17A IL1B MIF TLR2 TLR4
14 rheumatoid arthritis 26.6 CXCL1 IL17A IL1B MIF MMP9 TLR2
15 malaria 26.5 ACKR1 IL17A IL1B MIF MMP9 TLR2
16 keratitis-ichthyosis-deafness syndrome, autosomal dominant 12.4
17 herpes simplex virus keratitis 12.3
18 acanthamoeba keratitis 12.3
19 interstitial keratitis 12.3
20 stromal keratitis 12.2
21 deep keratitis 12.1
22 superficial keratitis 12.0
23 filamentary keratitis 12.0
24 exposure keratitis 12.0
25 sclerosing keratitis 12.0
26 macular keratitis 12.0
27 diffuse interstitial keratitis 12.0
28 gonococcal keratitis 12.0
29 idiopathic linear interstitial keratitis 11.9
30 vernal keratitis 11.9
31 infectious epithelial keratitis 11.9
32 neurotrophic keratopathy 11.8
33 cogan syndrome 11.6
34 punctate epithelial keratoconjunctivitis 11.5
35 dermatoosteolysis, kirghizian type 11.4
36 corneal ulcer 11.4
37 keratoendotheliitis fugax hereditaria 11.3
38 keratomalacia 11.3
39 keratoconjunctivitis sicca 11.3
40 severe cutaneous adverse reaction 11.1
41 keratosis 11.1
42 diarrhea 5, with tufting enteropathy, congenital 11.1
43 aniridia 2 11.0 ELP4 PAX6
44 tyrosinemia, type ii 11.0
45 ichthyosiform erythroderma, corneal involvement, and deafness 10.9
46 deafness, autosomal dominant 24 10.8 GJB2 GJB6
47 ichthyosis, hystrix-like, with deafness 10.8
48 philophthalmiasis 10.8
49 late congenital syphilis 10.8
50 acute hemorrhagic conjunctivitis 10.8

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



Diseases related to Keratitis, Hereditary

Symptoms & Phenotypes for Keratitis, Hereditary

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

Human phenotypes related to Keratitis, Hereditary:

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

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
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ACKR1 FGF2 GDI1 GJB2 GJB6 IL17A
2 cardiovascular system MP:0005385 10.18 CXCL2 FGF2 GJB2 GJB6 IL1B MMP9
3 immune system MP:0005387 10.15 ACKR1 GJB2 GJB6 IL17A IL1B MIF
4 digestive/alimentary MP:0005381 10 IL17A MMP9 PAX6 TLR2 TLR4 TLR9
5 integument MP:0010771 9.92 GJB2 GJB6 IL1B MMP9 PAX6 TLR2
6 hearing/vestibular/ear MP:0005377 9.91 TLR4 FGF2 GJB2 GJB6 MIF PAX6
7 nervous system MP:0003631 9.9 FGF2 GDI1 GJB2 GJB6 IL1B MIF
8 neoplasm MP:0002006 9.86 FGF2 IL1B MIF MMP9 PAX6 TLR2
9 renal/urinary system MP:0005367 9.5 IL17A MMP9 PAX6 TLR2 TLR4 TLR9
10 skeleton MP:0005390 9.32 TLR4 VEGFA ACKR1 FGF2 GJB2 IL17A

Drugs & Therapeutics for Keratitis, Hereditary

Search Clinical Trials , NIH Clinical Center for Keratitis, Hereditary

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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
2 Keratitis 29

Anatomical Context for Keratitis, Hereditary

MalaCards organs/tissues related to Keratitis, Hereditary:

41
Eye

Publications for Keratitis, Hereditary

Articles related to Keratitis, Hereditary:

# Title Authors Year
1
Mutation of the PAX6 gene in patients with autosomal dominant keratitis. ( 7668281 )
1995
2
Autosomal dominant keratitis: a possible aniridia variant. ( 7627897 )
1995

Variations for Keratitis, Hereditary

ClinVar genetic disease variations for Keratitis, Hereditary:

6
(show top 50) (show all 170)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.917-2A> T single nucleotide variant Pathogenic rs587776571 GRCh38 Chromosome 11, 31793555: 31793555
2 PAX6 NM_000280.4(PAX6): c.917-2A> T single nucleotide variant Pathogenic rs587776571 GRCh37 Chromosome 11, 31815103: 31815103
3 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh38 Chromosome 11, 31810819: 31810819
4 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
5 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
6 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
7 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh37 Chromosome 11, 31812304: 31812304
8 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh38 Chromosome 11, 31790756: 31790756
9 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh37 Chromosome 11, 31806855: 31806855
10 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh38 Chromosome 11, 31785307: 31785307
11 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh37 Chromosome 11, 31807406: 31807406
12 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh38 Chromosome 11, 31785858: 31785858
13 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh38 Chromosome 11, 31785931: 31785931
14 PAX6 NM_000280.4(PAX6): c.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
15 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
16 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
17 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
18 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
19 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh37 Chromosome 11, 31808775: 31808777
20 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh38 Chromosome 11, 31787227: 31787229
21 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh37 Chromosome 11, 31809961: 31809961
22 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh38 Chromosome 11, 31788413: 31788413
23 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh37 Chromosome 11, 31810088: 31810088
24 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh38 Chromosome 11, 31788540: 31788540
25 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh37 Chromosome 11, 31810195: 31810195
26 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh38 Chromosome 11, 31788647: 31788647
27 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh37 Chromosome 11, 31810298: 31810298
28 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh38 Chromosome 11, 31788750: 31788750
29 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh37 Chromosome 11, 31810419: 31810419
30 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh38 Chromosome 11, 31788871: 31788871
31 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh37 Chromosome 11, 31823139: 31823139
32 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh38 Chromosome 11, 31801591: 31801591
33 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh37 Chromosome 11, 31823332: 31823332
34 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh38 Chromosome 11, 31801784: 31801784
35 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh37 Chromosome 11, 31832571: 31832571
36 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh38 Chromosome 11, 31811023: 31811023
37 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh37 Chromosome 11, 31806374: 31806374
38 PAX6 NM_000280.4(PAX6): c.*5108A> G single nucleotide variant Likely benign rs146579778 GRCh38 Chromosome 11, 31784826: 31784826
39 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh37 Chromosome 11, 31806561: 31806563
40 PAX6 NM_000280.4(PAX6) indel Uncertain significance rs886048180 GRCh38 Chromosome 11, 31785013: 31785015
41 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh37 Chromosome 11, 31806786: 31806786
42 PAX6 NM_000280.4(PAX6): c.*4696G> C single nucleotide variant Likely benign rs180780893 GRCh38 Chromosome 11, 31785238: 31785238
43 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh37 Chromosome 11, 31806883: 31806883
44 PAX6 NM_000280.4(PAX6): c.*4599T> G single nucleotide variant Likely benign rs185968715 GRCh38 Chromosome 11, 31785335: 31785335
45 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh37 Chromosome 11, 31807121: 31807121
46 PAX6 NM_000280.4(PAX6): c.*4361T> C single nucleotide variant Uncertain significance rs886048181 GRCh38 Chromosome 11, 31785573: 31785573
47 PAX6 NM_000280.4(PAX6): c.*3958G> A single nucleotide variant Benign rs3026401 GRCh37 Chromosome 11, 31807524: 31807524
48 PAX6 NM_000280.4(PAX6): c.*3958G> A single nucleotide variant Benign rs3026401 GRCh38 Chromosome 11, 31785976: 31785976
49 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 GRCh37 Chromosome 11, 31807574: 31807574
50 PAX6 NM_000280.4(PAX6): c.*3908C> T single nucleotide variant Uncertain significance rs886048185 GRCh38 Chromosome 11, 31786026: 31786026

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 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
2
Show member pathways
13.34 CXCL1 CXCL2 FGF2 IL17A IL1B TLR2
3
Show member pathways
13.3 CXCL1 CXCL2 FGF2 IL17A IL1B MMP9
4
Show member pathways
12.96 CXCL1 CXCL2 IL1B TLR2 TLR4 TLR9
5
Show member pathways
12.65 FGF2 IL1B TLR2 TLR4 TLR9
6
Show member pathways
12.45 IL1B TLR2 TLR4 TLR9
7
Show member pathways
12.43 CXCL1 CXCL2 FGF2 MMP9 TLR2 TLR4
8
Show member pathways
12.38 IL17A IL1B TLR2 TLR4
9
Show member pathways
12.35 TLR2 TLR4 TLR9 VEGFA
10 12.21 FGF2 MMP9 TLR2 TLR4 VEGFA
11
Show member pathways
12.21 CXCL1 CXCL2 IL17A IL1B MMP9 TLR2
12 12.18 IL1B TLR2 TLR4 TLR9
13
Show member pathways
12.17 IL17A IL1B TLR2 TLR4 TLR9
14
Show member pathways
12.12 IL1B TLR2 TLR4 TLR9
15 12.07 MMP9 TLR2 TLR4 TLR9 VEGFA
16
Show member pathways
11.98 IL1B TLR2 TLR4 TLR9
17 11.9 CXCL1 CXCL2 IL1B MMP9
18 11.89 FGF2 IL17A IL1B MMP9 VEGFA
19 11.82 CXCL2 IL1B TLR4
20 11.82 CXCL1 IL1B TLR2 TLR4
21
Show member pathways
11.81 CXCL1 IL17A TLR4
22 11.76 TLR2 TLR4 TLR9
23 11.76 CXCL1 CXCL2 IL1B TLR4
24 11.72 FGF2 PAX6 VEGFA
25 11.63 FGF2 MMP9 VEGFA
26 11.58 CXCL2 FGF2 IL1B MMP9
27
Show member pathways
11.52 CXCL2 IL1B MIF MMP9 VEGFA
28 11.51 CXCL1 CXCL2 IL1B MIF MMP9 TLR4
29 11.48 CXCL1 CXCL2 IL1B
30 11.46 IL1B TLR2 TLR4
31 11.4 CXCL1 CXCL2 IL1B TLR2 TLR4
32 11.24 ACKR1 IL1B TLR2 TLR4 TLR9
33 11.23 CXCL1 CXCL2 IL1B
34 11.13 IL1B MMP9 TLR2
35 11.1 FGF2 MMP9 VEGFA
36 11.05 CXCL1 IL17A IL1B TLR2 TLR4 VEGFA
37 10.74 MIF TLR4

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 9.61 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
2 extracellular space GO:0005615 9.28 CXCL1 CXCL2 FGF2 IL17A IL1B MIF

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.95 IL1B MIF MMP9 VEGFA
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.91 IL1B TLR2 TLR4 TLR9
3 regulation of signaling receptor activity GO:0010469 9.87 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
4 positive regulation of inflammatory response GO:0050729 9.85 TLR2 TLR4 TLR9
5 chemokine-mediated signaling pathway GO:0070098 9.84 ACKR1 CXCL1 CXCL2
6 positive regulation of JNK cascade GO:0046330 9.84 IL1B TLR4 TLR9
7 positive regulation of MAP kinase activity GO:0043406 9.83 FGF2 MIF VEGFA
8 positive regulation of cell division GO:0051781 9.82 FGF2 IL1B VEGFA
9 toll-like receptor signaling pathway GO:0002224 9.81 TLR2 TLR4 TLR9
10 positive regulation of B cell proliferation GO:0030890 9.81 MIF TLR4 TLR9
11 positive chemotaxis GO:0050918 9.79 FGF2 MIF VEGFA
12 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.77 TLR2 TLR4 TLR9
13 lipopolysaccharide-mediated signaling pathway GO:0031663 9.77 IL1B TLR2 TLR4
14 positive regulation of interferon-beta production GO:0032728 9.75 TLR2 TLR4 TLR9
15 positive regulation of interleukin-12 production GO:0032735 9.74 TLR2 TLR4 TLR9
16 positive regulation of interleukin-10 production GO:0032733 9.73 TLR2 TLR4 TLR9
17 positive regulation of interleukin-6 production GO:0032755 9.73 IL1B TLR2 TLR4 TLR9
18 positive regulation of chemokine production GO:0032722 9.71 TLR2 TLR4 TLR9
19 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.71 IL1B TLR2 TLR4 TLR9
20 cytokine-mediated signaling pathway GO:0019221 9.7 CXCL1 CXCL2 FGF2 IL17A IL1B MMP9
21 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.69 TLR2 TLR4 TLR9
22 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.68 IL17A TLR4
23 cell migration involved in sprouting angiogenesis GO:0002042 9.68 FGF2 VEGFA
24 cellular response to lipoteichoic acid GO:0071223 9.68 TLR2 TLR4
25 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.67 IL1B TLR9
26 response to molecule of bacterial origin GO:0002237 9.67 CXCL2 TLR2 TLR9
27 positive regulation of tumor necrosis factor production GO:0032760 9.67 MIF TLR2 TLR4 TLR9
28 positive regulation of interferon-beta biosynthetic process GO:0045359 9.65 TLR4 TLR9
29 I-kappaB phosphorylation GO:0007252 9.65 TLR2 TLR4 TLR9
30 positive regulation of toll-like receptor signaling pathway GO:0034123 9.63 TLR2 TLR9
31 regulation of cytokine secretion GO:0050707 9.63 TLR2 TLR4 TLR9
32 tumor necrosis factor production GO:0032640 9.62 TLR2 TLR9
33 positive regulation of interleukin-18 production GO:0032741 9.62 TLR2 TLR9
34 positive regulation of interleukin-8 production GO:0032757 9.56 IL1B TLR2 TLR4 TLR9
35 response to lipopolysaccharide GO:0032496 9.5 CXCL1 CXCL2 GJB2 GJB6 IL1B TLR2
36 inflammatory response GO:0006954 9.28 ACKR1 CXCL1 CXCL2 IL17A IL1B MIF
37 positive regulation of transcription by RNA polymerase II GO:0045944 10.15 FGF2 IL17A IL1B PAX6 TLR2 TLR4
38 immune response GO:0006955 10.06 CXCL1 CXCL2 IL17A IL1B TLR2 TLR4
39 negative regulation of cell proliferation GO:0008285 10.05 CXCL1 GJB6 IL1B PAX6 TLR2
40 positive regulation of gene expression GO:0010628 10 IL1B PAX6 TLR2 TLR4 TLR9 VEGFA

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

# Name GO ID Score Top Affiliating Genes
1 interleukin-1 receptor binding GO:0005149 9.32 IL1B TLR9
2 CXCR chemokine receptor binding GO:0045236 9.26 CXCL1 CXCL2
3 cytokine activity GO:0005125 9.17 CXCL1 CXCL2 FGF2 IL17A IL1B MIF
4 lipopolysaccharide receptor activity GO:0001875 9.16 TLR2 TLR4
5 chemoattractant activity GO:0042056 9.13 FGF2 MIF VEGFA

Sources for Keratitis, Hereditary

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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