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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   keratitis
  

Disease ID 722
Disease keratitis
Definition
Inflammation of the cornea.
Synonym
corneal inflammation
corneal keratitis
inflammation corneal
keratitides
keratitis (disorder)
keratitis [disease/finding]
keratitis nos
keratitis nos (disorder)
keratitis, nos
unspecified keratitis
DOID
ICD10
UMLS
C0022568
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:78)
C0456909  |  blindness  |  14
C0010043  |  corneal ulcer  |  10
C0003873  |  rheumatoid arthritis  |  6
C0042164  |  uveitis  |  6
C0152226  |  lagophthalmos  |  5
C0007137  |  squamous cell carcinoma  |  4
C0042165  |  anterior uveitis  |  4
C0010043  |  corneal ulceration  |  4
C0456909  |  vision loss  |  4
C0019348  |  herpes simplex  |  4
C0314719  |  dry eye  |  4
C0014236  |  endophthalmitis  |  4
C0043092  |  wegener's granulomatosis  |  3
C0019360  |  zoster  |  3
C0019360  |  herpes zoster  |  3
C0085109  |  corneal neovascularization  |  3
C0042769  |  viral infection  |  2
C0026946  |  fungal infection  |  2
C0086543  |  cataract  |  2
C0010036  |  corneal dystrophy  |  2
C0019364  |  herpes zoster ophthalmicus  |  2
C0022573  |  keratoconjunctivitis  |  2
C0026946  |  fungal infections  |  2
C0006840  |  candidiasis  |  2
C0004623  |  bacterial infection  |  2
C0553662  |  juvenile rheumatoid arthritis  |  1
C0262428  |  collagen vascular disease  |  1
C0268483  |  tyrosinemia  |  1
C0276758  |  fusarium infection  |  1
C0085435  |  reactive arthritis  |  1
C0010346  |  crohn's disease  |  1
C0036689  |  streptococcal pharyngitis  |  1
C0009806  |  constipation  |  1
C0701807  |  acute anterior uveitis  |  1
C0010346  |  crohn disease  |  1
C0235270  |  keratopathy  |  1
C1510471  |  hypovitaminosis  |  1
C0021831  |  intestinal disease  |  1
C0043092  |  wegener granulomatosis  |  1
C0020490  |  hyperopia  |  1
C0019364  |  zoster ophthalmicus  |  1
C0010034  |  corneal disease  |  1
C0085109  |  corneal vascularization  |  1
C0553662  |  juvenile idiopathic arthritis  |  1
C0042373  |  vascular disease  |  1
C0271270  |  cogan syndrome  |  1
C0021390  |  inflammatory bowel disease  |  1
C0021053  |  immune disease  |  1
C0018179  |  granular corneal dystrophy  |  1
C0009763  |  conjunctivitis  |  1
C0042384  |  vasculitis  |  1
C0004943  |  behcet's disease  |  1
C0013238  |  dry eye syndrome  |  1
C1527336  |  sjogren's syndrome  |  1
C0003864  |  arthritis  |  1
C0155111  |  bullous keratopathy  |  1
C0031350  |  pharyngitis  |  1
C0343068  |  familial cold autoinflammatory syndrome  |  1
C0021831  |  bowel disease  |  1
C0001175  |  acquired immune deficiency  |  1
C0017601  |  glaucoma  |  1
C0153131  |  syphilitic interstitial keratitis  |  1
C0026764  |  multiple myeloma  |  1
C0013592  |  ectropion  |  1
C0004623  |  bacterial infections  |  1
C0022575  |  keratoconjunctivitis sicca  |  1
C0038325  |  stevens-johnson syndrome  |  1
C0010037  |  corneal edema  |  1
C0001175  |  acquired immune deficiency syndrome (aids)  |  1
C0034212  |  pyoderma  |  1
C0085652  |  pyoderma gangrenosum  |  1
C0035854  |  rosacea  |  1
C0026946  |  mycoses  |  1
C0042373  |  vascular diseases  |  1
C0017178  |  gastrointestinal disease  |  1
C0037274  |  dermatosis  |  1
C0040188  |  tic disorders  |  1
C0001175  |  acquired immune deficiency syndrome  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
2706  |  GJB2  |  CTD_human
3576  |  CXCL8  |  CTD_human
7097  |  TLR2  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:153)
3983  |  ABLIM1  |  1.688  |  DISEASES
202  |  AIM1  |  2.15  |  DISEASES
283  |  ANG  |  1.547  |  DISEASES
284  |  ANGPT1  |  1.652  |  DISEASES
23452  |  ANGPTL2  |  1.613  |  DISEASES
10218  |  ANGPTL7  |  1.305  |  DISEASES
820  |  CAMP  |  2.749  |  DISEASES
6364  |  CCL20  |  1.619  |  DISEASES
388372  |  CCL4L1  |  2.241  |  DISEASES
9560  |  CCL4L2  |  1.138  |  DISEASES
1232  |  CCR3  |  1.147  |  DISEASES
959  |  CD40LG  |  2.413  |  DISEASES
80781  |  COL18A1  |  3.326  |  DISEASES
81035  |  COLEC12  |  1.454  |  DISEASES
170622  |  COMMD6  |  2.368  |  DISEASES
9244  |  CRLF1  |  1.083  |  DISEASES
1413  |  CRYBA4  |  1.521  |  DISEASES
1499  |  CTNNB1  |  1.064  |  DISEASES
1524  |  CX3CR1  |  1.432  |  DISEASES
2919  |  CXCL1  |  3.308  |  DISEASES
6387  |  CXCL12  |  1.706  |  DISEASES
2920  |  CXCL2  |  3.538  |  DISEASES
4283  |  CXCL9  |  1.844  |  DISEASES
2833  |  CXCR3  |  1.459  |  DISEASES
7852  |  CXCR4  |  1.365  |  DISEASES
1580  |  CYP4B1  |  2.133  |  DISEASES
414325  |  DEFB103A  |  2.665  |  DISEASES
55894  |  DEFB103B  |  2.665  |  DISEASES
100289462  |  DEFB4B  |  1.521  |  DISEASES
1660  |  DHX9  |  3.927  |  DISEASES
23234  |  DNAJC9  |  2.193  |  DISEASES
1791  |  DNTT  |  1.485  |  DISEASES
81704  |  DOCK8  |  1.34  |  DISEASES
8813  |  DPM1  |  1.766  |  DISEASES
1805  |  DPT  |  1.446  |  DISEASES
1961  |  EGR4  |  1.253  |  DISEASES
1999  |  ELF3  |  1.378  |  DISEASES
23065  |  EMC1  |  3.525  |  DISEASES
2047  |  EPHB1  |  1.859  |  DISEASES
104355217  |  ERICD  |  2.183  |  DISEASES
56975  |  FAM20C  |  3.826  |  DISEASES
356  |  FASLG  |  1.587  |  DISEASES
9873  |  FCHSD2  |  1.372  |  DISEASES
2258  |  FGF13  |  1.567  |  DISEASES
2316  |  FLNA  |  1.089  |  DISEASES
2318  |  FLNC  |  1.215  |  DISEASES
2331  |  FMOD  |  1.951  |  DISEASES
50943  |  FOXP3  |  1.712  |  DISEASES
2664  |  GDI1  |  4.137  |  DISEASES
2706  |  GJB2  |  5.425  |  DISEASES
2707  |  GJB3  |  1.826  |  DISEASES
127534  |  GJB4  |  2.883  |  DISEASES
2709  |  GJB5  |  2.632  |  DISEASES
2737  |  GLI3  |  1.449  |  DISEASES
3039  |  HBA1  |  3.037  |  DISEASES
3105  |  HLA-A  |  1.044  |  DISEASES
8091  |  HMGA2  |  1.455  |  DISEASES
3146  |  HMGB1  |  1.057  |  DISEASES
3329  |  HSPD1  |  1.41  |  DISEASES
3339  |  HSPG2  |  1.292  |  DISEASES
3447  |  IFNA13  |  1.642  |  DISEASES
3440  |  IFNA2  |  1.755  |  DISEASES
3456  |  IFNB1  |  2.349  |  DISEASES
3550  |  IK  |  1.166  |  DISEASES
3586  |  IL10  |  3.304  |  DISEASES
3605  |  IL17A  |  2.878  |  DISEASES
23765  |  IL17RA  |  1.902  |  DISEASES
3559  |  IL2RA  |  1.154  |  DISEASES
3652  |  IPP  |  1.252  |  DISEASES
3684  |  ITGAM  |  2.758  |  DISEASES
56704  |  JPH1  |  1.126  |  DISEASES
57158  |  JPH2  |  1.517  |  DISEASES
3880  |  KRT19  |  1.247  |  DISEASES
3850  |  KRT3  |  3.747  |  DISEASES
3851  |  KRT4  |  1.474  |  DISEASES
3932  |  LCK  |  1.446  |  DISEASES
3965  |  LGALS9  |  1.218  |  DISEASES
7786  |  MAP3K12  |  1.249  |  DISEASES
5599  |  MAPK8  |  1.186  |  DISEASES
4145  |  MATK  |  2.24  |  DISEASES
51360  |  MBTPS2  |  1.871  |  DISEASES
81857  |  MED25  |  1.718  |  DISEASES
4312  |  MMP1  |  1.983  |  DISEASES
4318  |  MMP9  |  4.066  |  DISEASES
26002  |  MOXD1  |  1.66  |  DISEASES
4586  |  MUC5AC  |  2.109  |  DISEASES
4615  |  MYD88  |  3.214  |  DISEASES
4641  |  MYO1C  |  1.411  |  DISEASES
4803  |  NGF  |  2.069  |  DISEASES
79576  |  NKAP  |  2.293  |  DISEASES
114548  |  NLRP3  |  1.637  |  DISEASES
4843  |  NOS2  |  1.085  |  DISEASES
594857  |  NPS  |  1.368  |  DISEASES
8828  |  NRP2  |  1.581  |  DISEASES
59277  |  NTN4  |  2.412  |  DISEASES
5080  |  PAX6  |  2.362  |  DISEASES
5228  |  PGF  |  1.417  |  DISEASES
114770  |  PGLYRP2  |  1.567  |  DISEASES
57115  |  PGLYRP4  |  1.863  |  DISEASES
5328  |  PLAU  |  1.474  |  DISEASES
23646  |  PLD3  |  2.463  |  DISEASES
139728  |  PNCK  |  1.347  |  DISEASES
11201  |  POLI  |  1.03  |  DISEASES
5542  |  PRB1  |  1.079  |  DISEASES
5788  |  PTPRC  |  1.964  |  DISEASES
5795  |  PTPRJ  |  1.56  |  DISEASES
196475  |  RMST  |  1.585  |  DISEASES
8732  |  RNGTT  |  3.574  |  DISEASES
23429  |  RYBP  |  1.213  |  DISEASES
6283  |  S100A12  |  1.519  |  DISEASES
6284  |  S100A13  |  1.472  |  DISEASES
6303  |  SAT1  |  1.08  |  DISEASES
388228  |  SBK1  |  2.649  |  DISEASES
6401  |  SELE  |  1.482  |  DISEASES
5265  |  SERPINA1  |  1.136  |  DISEASES
5275  |  SERPINB13  |  1.295  |  DISEASES
29946  |  SERTAD3  |  1.845  |  DISEASES
59307  |  SIGIRR  |  2.75  |  DISEASES
9353  |  SLIT2  |  1.342  |  DISEASES
6586  |  SLIT3  |  1.209  |  DISEASES
6590  |  SLPI  |  1.504  |  DISEASES
677833  |  SNORA54  |  1.411  |  DISEASES
200162  |  SPAG17  |  1.678  |  DISEASES
9806  |  SPOCK2  |  1.588  |  DISEASES
6714  |  SRC  |  1.164  |  DISEASES
6850  |  SYK  |  1.482  |  DISEASES
6863  |  TAC1  |  2.726  |  DISEASES
6898  |  TAT  |  4.101  |  DISEASES
7010  |  TEK  |  1.968  |  DISEASES
7045  |  TGFBI  |  1.328  |  DISEASES
7058  |  THBS2  |  2.995  |  DISEASES
7096  |  TLR1  |  2.03  |  DISEASES
7099  |  TLR4  |  3.788  |  DISEASES
7100  |  TLR5  |  2.839  |  DISEASES
54106  |  TLR9  |  2.765  |  DISEASES
7114  |  TMSB4X  |  1.113  |  DISEASES
7124  |  TNF  |  3.543  |  DISEASES
8764  |  TNFRSF14  |  1.193  |  DISEASES
9966  |  TNFSF15  |  1.652  |  DISEASES
27229  |  TUBGCP4  |  1.006  |  DISEASES
286753  |  TUSC5  |  2.611  |  DISEASES
7318  |  UBA7  |  1.152  |  DISEASES
7325  |  UBE2E2  |  1.177  |  DISEASES
90249  |  UNC5A  |  1.099  |  DISEASES
219699  |  UNC5B  |  2.273  |  DISEASES
137970  |  UNC5D  |  1.564  |  DISEASES
11023  |  VAX1  |  1.492  |  DISEASES
7422  |  VEGFA  |  5.235  |  DISEASES
7432  |  VIP  |  1.419  |  DISEASES
51534  |  VTA1  |  2.033  |  DISEASES
6375  |  XCL1  |  1.244  |  DISEASES
9278  |  ZBTB22  |  1.29  |  DISEASES
55657  |  ZNF692  |  3.241  |  DISEASES
Locus(Waiting for update.)
Disease ID 722
Disease keratitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:53)
HP:0000618  |  Blindness  |  14
HP:0012804  |  Corneal ulceration  |  11
HP:0001370  |  Rheumatoid arthritis  |  6
HP:0000554  |  Uveitis  |  5
HP:0000572  |  Visual loss  |  5
HP:0100699  |  Scarring  |  5
HP:0100583  |  Corneal perforation  |  4
HP:0012122  |  Anterior uveitis  |  4
HP:0011496  |  Corneal vascularization  |  4
HP:0002860  |  Squamous cell carcinoma  |  4
HP:0007957  |  Corneal clouding  |  4
HP:0012531  |  Pain  |  4
HP:0000559  |  Corneal scarring  |  3
HP:0000518  |  Cataract  |  2
HP:0030731  |  Carcinoma  |  2
HP:0001131  |  Corneal dystrophy  |  2
HP:0001101  |  Iritis  |  2
HP:0000613  |  Extreme light sensitivity  |  2
HP:0002955  |  Granulomatosis  |  2
HP:0001096  |  Keratoconjunctivitis  |  2
HP:0005681  |  Juvenile idiopathic arthritis  |  2
HP:0007663  |  Central visual loss  |  1
HP:0007802  |  Granular corneal dystrophy  |  1
HP:0001094  |  Iridocyclitis  |  1
HP:0100033  |  Tic disorder  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0000726  |  Dementia  |  1
HP:0003474  |  Sensory impairment  |  1
HP:0006775  |  Multiple myeloma  |  1
HP:0001824  |  Weight loss  |  1
HP:0000540  |  Hypermetropia  |  1
HP:0001945  |  Fever  |  1
HP:0001059  |  Pterygium  |  1
HP:0002321  |  Vertigo  |  1
HP:0000999  |  Pyoderma  |  1
HP:0012375  |  Chemosis  |  1
HP:0001875  |  Neutropenia  |  1
HP:0003764  |  Naevus  |  1
HP:0011487  |  Increased corneal thickness  |  1
HP:0000656  |  Ectropion  |  1
HP:0000505  |  Poor vision  |  1
HP:0001097  |  Keratoconjunctivitis sicca  |  1
HP:0000509  |  Conjunctivitis  |  1
HP:0002633  |  Vasculitis  |  1
HP:0003231  |  Increased tyrosine in blood  |  1
HP:0002019  |  Dyschezia  |  1
HP:0002664  |  Neoplasia  |  1
HP:0004905  |  Vitamin A deficiency  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0012155  |  Reduced corneal sensation  |  1
HP:0000568  |  Abnormally small globe of eye  |  1
HP:0001369  |  Arthritis  |  1
HP:0000360  |  Ringing in the ears  |  1
Disease ID 722
Disease keratitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C0870082  |  hyperkeratosis
C0042769  |  viral infections
C0022596  |  palmoplantar keratosis
C0010034  |  corneal disease
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0010034  |  corneal disease  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs28931594239241732706GJB2umls:C0022568BeFreeHeterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.0.1248859542013GJB21320189434CT,A
rs72561723180242542706GJB2umls:C0022568BeFreeA familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.0.1248859542008GJB21320189448CT
rs72561723237568142706GJB2umls:C0022568BeFreeSubstitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome.0.1248859542013GJB21320189448CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 722
Disease keratitis
Case(Waiting for update.)