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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   uveitis
  

Disease ID 405
Disease uveitis
Definition
Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, and commonly involving the other tunics (sclera and cornea, and the retina). (Dorland, 27th ed)
Synonym
intraocular inflammation
uveitides
uveitis (disorder)
uveitis [disease/finding]
uveitis nos
uveitis, nos
Orphanet
DOID
UMLS
C0042164
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:165)
C0553662  |  juvenile idiopathic arthritis  |  40
C0003864  |  arthritis  |  28
C0017601  |  glaucoma  |  26
C0086543  |  cataract  |  23
C0004943  |  behcet's disease  |  19
C0036202  |  sarcoidosis  |  17
C0038013  |  ankylosing spondylitis  |  16
C0271051  |  macular edema  |  11
C0004943  |  behcet disease  |  10
C0042384  |  vasculitis  |  10
C0026769  |  multiple sclerosis  |  9
C0152026  |  retinal vasculitis  |  8
C0027707  |  interstitial nephritis  |  8
C0035305  |  retinal detachment  |  7
C0027697  |  nephritis  |  7
C0038012  |  spondylitis  |  7
C0041349  |  tubulointerstitial nephritis  |  7
C0022568  |  keratitis  |  6
C0020538  |  hypertension  |  5
C0152253  |  posterior synechiae  |  5
C0041296  |  tuberculosis  |  5
C0042167  |  posterior uveitis  |  5
C0086543  |  cataracts  |  5
C0042769  |  virus infection  |  4
C0028840  |  ocular hypertension  |  4
C0022073  |  iridocyclitis  |  4
C0456909  |  vision loss  |  4
C0036416  |  scleritis  |  4
C0035333  |  retinitis  |  4
C0042164  |  uveitis  |  4
C0024440  |  cystoid macular edema  |  4
C0456909  |  blindness  |  3
C0040558  |  toxoplasmosis  |  3
C0035435  |  rheumatic disease  |  3
C0039128  |  syphilis  |  3
C0271097  |  usher syndrome  |  3
C0035920  |  rubella  |  3
C0155120  |  band keratopathy  |  3
C0017612  |  open angle glaucoma  |  3
C0019348  |  herpes simplex  |  2
C0008513  |  chorioretinitis  |  2
C0019364  |  herpes zoster ophthalmicus  |  2
C0009324  |  ulcerative colitis  |  2
C0040147  |  thyroiditis  |  2
C0035305  |  retinal detachments  |  2
C0004623  |  bacterial infection  |  2
C0042166  |  intermediate uveitis  |  2
C0011570  |  depression  |  2
C0021053  |  immune disease  |  2
C0040561  |  ocular toxoplasmosis  |  2
C0677607  |  hashimoto's thyroiditis  |  2
C0042170  |  vogt-koyanagi-harada disease  |  2
C0008526  |  choroiditis  |  2
C0003872  |  psoriatic arthritis  |  2
C0949691  |  spondyloarthropathies  |  2
C0011603  |  dermatitis  |  2
C0152257  |  mature cataract  |  2
C0042165  |  anterior uveitis  |  2
C0042164  |  intraocular inflammation  |  2
C0019360  |  herpes zoster  |  2
C0042170  |  harada disease  |  2
C0035435  |  rheumatic diseases  |  2
C0017605  |  angle closure glaucoma  |  2
C0011847  |  diabetes  |  2
C0030343  |  panuveitis  |  2
C0019364  |  zoster ophthalmicus  |  2
C0019360  |  zoster  |  2
C0949690  |  spondyloarthritis  |  2
C0206178  |  cmv retinitis  |  2
C0544008  |  chandler's syndrome  |  1
C0021053  |  immune disorders  |  1
C0007113  |  rectal cancer  |  1
C0022568  |  corneal inflammation  |  1
C0235270  |  keratopathy  |  1
C0004623  |  bacterial infections  |  1
C0022573  |  keratoconjunctivitis  |  1
C0036205  |  lung sarcoidosis  |  1
C0949691  |  spondylarthropathies  |  1
C0014236  |  endophthalmitis  |  1
C0021053  |  immune disorder  |  1
C0032453  |  relapsing polychondritis  |  1
C0015458  |  parry-romberg syndrome  |  1
C0002170  |  alopecia  |  1
C0028817  |  ochronosis  |  1
C0035334  |  retinitis pigmentosa  |  1
C0015624  |  fanconi syndrome  |  1
C0035326  |  retinal vascular occlusion  |  1
C0020581  |  hyphema  |  1
C0029134  |  optic neuritis  |  1
C0042109  |  urticarial  |  1
C0007939  |  syphilitic chancre  |  1
C0206178  |  cytomegalovirus retinitis  |  1
C0019829  |  hodgkin disease  |  1
C0019158  |  hepatitis  |  1
C0019163  |  hepatitis b  |  1
C0009447  |  common variable immunodeficiency  |  1
C0271051  |  macular oedema  |  1
C0271270  |  cogan's syndrome  |  1
C0221023  |  cyclic neutropenia  |  1
C0003864  |  joint inflammation  |  1
C0155223  |  dacryoadenitis  |  1
C0949690  |  spondylarthritis  |  1
C0027947  |  neutropenia  |  1
C0001175  |  acquired immunodeficiency syndrome  |  1
C0027813  |  neuritis  |  1
C0861772  |  metastatic rectal cancer  |  1
C0027121  |  myositis  |  1
C0027538  |  necrobiosis lipoidica  |  1
C0015624  |  fanconi's syndrome  |  1
C0036202  |  sarcoid  |  1
C0029077  |  sympathetic ophthalmia  |  1
C0031154  |  peritonitis  |  1
C0085253  |  adult-onset still's disease  |  1
C0023343  |  leprosy  |  1
C0022408  |  joint disease  |  1
C0025202  |  melanoma  |  1
C0019655  |  histoplasmosis  |  1
C0038379  |  squint  |  1
C0149925  |  small cell lung carcinoma  |  1
C0014121  |  infective endocarditis  |  1
C0155088  |  interstitial keratitis  |  1
C0021053  |  immunologic disease  |  1
C0015230  |  rash  |  1
C0010037  |  corneal edema  |  1
C0012236  |  digeorge syndrome  |  1
C0033860  |  psoriasis  |  1
C0085437  |  bacterial meningitis  |  1
C1861303  |  blau syndrome  |  1
C0684249  |  lung carcinoma  |  1
C0024441  |  macular hole  |  1
C0017661  |  iga nephropathy  |  1
C0085435  |  reactive arthritis  |  1
C0010678  |  cysticercosis  |  1
C0022658  |  renal disease  |  1
C0031069  |  familial mediterranean fever  |  1
C0026896  |  myasthenia gravis  |  1
C0152258  |  hypermature cataract  |  1
C0007939  |  chancre  |  1
C0022081  |  iritis  |  1
C0016782  |  fuchs' heterochromic iridocyclitis  |  1
C0042384  |  angiitis  |  1
C0036205  |  pulmonary sarcoidosis  |  1
C0021053  |  immunologic diseases  |  1
C0241910  |  autoimmune hepatitis  |  1
C0011303  |  demyelinating disease  |  1
C0023364  |  leptospirosis  |  1
C0042900  |  vitiligo  |  1
C0278883  |  metastatic melanoma  |  1
C0007570  |  celiac disease  |  1
C0017601  |  glaucomas  |  1
C0242420  |  retinal edema  |  1
C0006309  |  brucellosis  |  1
C0023467  |  acute myeloid leukemia  |  1
C0017658  |  glomerulonephritis  |  1
C0020550  |  hyperthyroidism  |  1
C0030593  |  pars planitis  |  1
C0553662  |  juvenile arthritis  |  1
C0004153  |  atherosclerosis  |  1
C0206141  |  hypereosinophilic syndrome  |  1
C0030353  |  papilloedema  |  1
C1853959  |  birdshot chorioretinopathy  |  1
C0001175  |  acquired immunodeficiency syndrome (aids)  |  1
C0030354  |  papilloma  |  1
C0949691  |  spondyloarthropathy  |  1
C0022658  |  nephropathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:9)
213  |  ALB  |  CTD_human
6295  |  SAG  |  CTD_human;UniProtKB-KW
1415  |  CRYBB2  |  CTD_human
6648  |  SOD2  |  CTD_human
1409  |  CRYAA  |  CTD_human
3313  |  HSPA9  |  CTD_human
5949  |  RBP3  |  CTD_human
5176  |  SERPINF1  |  CTD_human
794  |  CALB2  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:23)
6347  |  CCL2  |  CIPHER
6352  |  CCL5  |  CIPHER
729230  |  CCR2  |  CIPHER
1234  |  CCR5  |  CIPHER
3105  |  HLA-A  |  CIPHER
3107  |  HLA-C  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3458  |  IFNG  |  CIPHER
3586  |  IL10  |  CIPHER
4049  |  LTA  |  CIPHER
7124  |  TNF  |  CIPHER
7132  |  TNFRSF1A  |  CIPHER
7133  |  TNFRSF1B  |  CIPHER
1415  |  CRYBB2  |  CTD_human
1409  |  CRYAA  |  CTD_human
213  |  ALB  |  CTD_human
3313  |  HSPA9  |  CTD_human
6295  |  SAG  |  CTD_human
5176  |  SERPINF1  |  CTD_human
794  |  CALB2  |  CTD_human
6648  |  SOD2  |  CTD_human
5949  |  RBP3  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:154)
441376  |  AARD  |  1.783  |  DISEASES
135  |  ADORA2A  |  1.022  |  DISEASES
140  |  ADORA3  |  1.213  |  DISEASES
125061  |  AFMID  |  1.475  |  DISEASES
199  |  AIF1  |  1.336  |  DISEASES
9255  |  AIMP1  |  2.004  |  DISEASES
361  |  AQP4  |  1.215  |  DISEASES
567  |  B2M  |  3.031  |  DISEASES
64170  |  CARD9  |  1.721  |  DISEASES
6364  |  CCL20  |  1.323  |  DISEASES
388372  |  CCL4L1  |  1.314  |  DISEASES
9332  |  CD163  |  1.113  |  DISEASES
930  |  CD19  |  1.497  |  DISEASES
911  |  CD1C  |  1.251  |  DISEASES
29126  |  CD274  |  1.618  |  DISEASES
958  |  CD40  |  1.268  |  DISEASES
959  |  CD40LG  |  4.283  |  DISEASES
960  |  CD44  |  1.4  |  DISEASES
921  |  CD5  |  1.303  |  DISEASES
966  |  CD59  |  1.143  |  DISEASES
942  |  CD86  |  1.915  |  DISEASES
30850  |  CDR2L  |  1.589  |  DISEASES
629  |  CFB  |  1.397  |  DISEASES
3075  |  CFH  |  1.623  |  DISEASES
3080  |  CFHR2  |  1.375  |  DISEASES
3426  |  CFI  |  1.347  |  DISEASES
9391  |  CIAO1  |  1.218  |  DISEASES
1154  |  CISH  |  1.718  |  DISEASES
23601  |  CLEC5A  |  1.216  |  DISEASES
93978  |  CLEC6A  |  1.253  |  DISEASES
23418  |  CRB1  |  1.867  |  DISEASES
8804  |  CREG1  |  2.408  |  DISEASES
1415  |  CRYBB2  |  3.125  |  DISEASES
1524  |  CX3CR1  |  1.71  |  DISEASES
2919  |  CXCL1  |  1.821  |  DISEASES
6387  |  CXCL12  |  1.297  |  DISEASES
4283  |  CXCL9  |  2.486  |  DISEASES
2833  |  CXCR3  |  2.429  |  DISEASES
51428  |  DDX41  |  2.356  |  DISEASES
7913  |  DEK  |  1.782  |  DISEASES
1810  |  DR1  |  1.086  |  DISEASES
6993  |  DYNLT1  |  2.005  |  DISEASES
1896  |  EDA  |  3.028  |  DISEASES
953  |  ENTPD1  |  1.378  |  DISEASES
64167  |  ERAP2  |  1.534  |  DISEASES
30816  |  ERVW-1  |  1.275  |  DISEASES
356  |  FASLG  |  1.796  |  DISEASES
121512  |  FGD4  |  1.031  |  DISEASES
752  |  FMNL1  |  1.029  |  DISEASES
50943  |  FOXP3  |  3.462  |  DISEASES
6011  |  GRK1  |  1.387  |  DISEASES
3005  |  H1F0  |  1.395  |  DISEASES
26508  |  HEYL  |  1.198  |  DISEASES
3105  |  HLA-A  |  3.303  |  DISEASES
3106  |  HLA-B  |  4.202  |  DISEASES
3107  |  HLA-C  |  1.244  |  DISEASES
3115  |  HLA-DPB1  |  2.158  |  DISEASES
3117  |  HLA-DQA1  |  2.349  |  DISEASES
3119  |  HLA-DQB1  |  1.831  |  DISEASES
3123  |  HLA-DRB1  |  2.821  |  DISEASES
3329  |  HSPD1  |  2.134  |  DISEASES
23308  |  ICOSLG  |  2.21  |  DISEASES
3440  |  IFNA2  |  1.073  |  DISEASES
3456  |  IFNB1  |  1.778  |  DISEASES
3459  |  IFNGR1  |  1.002  |  DISEASES
3586  |  IL10  |  4.557  |  DISEASES
3605  |  IL17A  |  4.794  |  DISEASES
112744  |  IL17F  |  2.622  |  DISEASES
23765  |  IL17RA  |  1.928  |  DISEASES
29949  |  IL19  |  1.591  |  DISEASES
7850  |  IL1R2  |  1.15  |  DISEASES
50616  |  IL22  |  2.373  |  DISEASES
149233  |  IL23R  |  2.918  |  DISEASES
64806  |  IL25  |  1.463  |  DISEASES
246778  |  IL27  |  2.24  |  DISEASES
3559  |  IL2RA  |  2.304  |  DISEASES
386653  |  IL31  |  2.065  |  DISEASES
90865  |  IL33  |  1.901  |  DISEASES
3652  |  IPP  |  1.576  |  DISEASES
134728  |  IRAK1BP1  |  1.637  |  DISEASES
51135  |  IRAK4  |  1.176  |  DISEASES
3683  |  ITGAL  |  1.776  |  DISEASES
3684  |  ITGAM  |  2.233  |  DISEASES
3766  |  KCNJ10  |  1.38  |  DISEASES
3778  |  KCNMA1  |  2.185  |  DISEASES
23046  |  KIF21B  |  1.251  |  DISEASES
3811  |  KIR3DL1  |  1.6  |  DISEASES
3824  |  KLRD1  |  1.156  |  DISEASES
4049  |  LTA  |  2.074  |  DISEASES
84946  |  LTV1  |  2.565  |  DISEASES
139599  |  MAGEE2  |  2.184  |  DISEASES
4155  |  MBP  |  2.735  |  DISEASES
9656  |  MDC1  |  1.205  |  DISEASES
100507436  |  MICA  |  2.841  |  DISEASES
50488  |  MINK1  |  2.713  |  DISEASES
4615  |  MYD88  |  2.132  |  DISEASES
81565  |  NDEL1  |  3.197  |  DISEASES
114548  |  NLRP3  |  2.713  |  DISEASES
4843  |  NOS2  |  1.562  |  DISEASES
4942  |  OAT  |  1.604  |  DISEASES
100506658  |  OCLN  |  1.569  |  DISEASES
54726  |  OTUD4  |  1.933  |  DISEASES
5132  |  PDC  |  2.717  |  DISEASES
5133  |  PDCD1  |  1.513  |  DISEASES
80380  |  PDCD1LG2  |  1.077  |  DISEASES
114770  |  PGLYRP2  |  1.272  |  DISEASES
57115  |  PGLYRP4  |  1.567  |  DISEASES
11331  |  PHB2  |  3.089  |  DISEASES
5251  |  PHEX  |  1.072  |  DISEASES
6490  |  PMEL  |  1.09  |  DISEASES
11168  |  PSIP1  |  1.995  |  DISEASES
5698  |  PSMB9  |  2.883  |  DISEASES
100130889  |  PSORS1C3  |  2.067  |  DISEASES
5743  |  PTGS2  |  1.936  |  DISEASES
26191  |  PTPN22  |  1.804  |  DISEASES
5788  |  PTPRC  |  2.023  |  DISEASES
26064  |  RAI14  |  1.41  |  DISEASES
54476  |  RNF216  |  1.151  |  DISEASES
6171  |  RPL41  |  1.047  |  DISEASES
6251  |  RSU1  |  1.227  |  DISEASES
6288  |  SAA1  |  1.199  |  DISEASES
6295  |  SAG  |  6.164  |  DISEASES
677767  |  SCARNA7  |  1.577  |  DISEASES
6401  |  SELE  |  2.149  |  DISEASES
5265  |  SERPINA1  |  2.504  |  DISEASES
55315  |  SLC29A3  |  1.951  |  DISEASES
57153  |  SLC44A2  |  1.195  |  DISEASES
6524  |  SLC5A2  |  1.017  |  DISEASES
23583  |  SMUG1  |  1.012  |  DISEASES
8651  |  SOCS1  |  2.121  |  DISEASES
9021  |  SOCS3  |  1.964  |  DISEASES
6731  |  SRP72  |  1.848  |  DISEASES
6772  |  STAT1  |  1.862  |  DISEASES
6775  |  STAT4  |  1.589  |  DISEASES
342898  |  SYCN  |  1.056  |  DISEASES
7062  |  TCHH  |  1.302  |  DISEASES
9895  |  TECPR2  |  1.476  |  DISEASES
7042  |  TGFB2  |  2.652  |  DISEASES
7096  |  TLR1  |  1.43  |  DISEASES
7099  |  TLR4  |  3.201  |  DISEASES
51284  |  TLR7  |  1.218  |  DISEASES
54106  |  TLR9  |  1.432  |  DISEASES
7124  |  TNF  |  5.479  |  DISEASES
8784  |  TNFRSF18  |  1.61  |  DISEASES
7133  |  TNFRSF1B  |  5.061  |  DISEASES
8718  |  TNFRSF25  |  1.81  |  DISEASES
7293  |  TNFRSF4  |  2.654  |  DISEASES
56658  |  TRIM39  |  1.49  |  DISEASES
51393  |  TRPV2  |  2.353  |  DISEASES
337867  |  UBAC2  |  1.826  |  DISEASES
7422  |  VEGFA  |  3.236  |  DISEASES
7432  |  VIP  |  1.655  |  DISEASES
5212  |  VIT  |  1.783  |  DISEASES
7710  |  ZNF154  |  1.62  |  DISEASES
Locus(Waiting for update.)
Disease ID 405
Disease uveitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:99)
HP:0005681  |  Juvenile idiopathic arthritis  |  41
HP:0000518  |  Cataract  |  31
HP:0001369  |  Arthritis  |  30
HP:0000501  |  Glaucoma  |  26
HP:0000572  |  Visual loss  |  14
HP:0002633  |  Vasculitis  |  11
HP:0000969  |  Dropsy  |  11
HP:0012531  |  Pain  |  9
HP:0040049  |  Macular edema  |  9
HP:0001970  |  Interstitial nephritis  |  8
HP:0000123  |  Nephritis  |  7
HP:0000505  |  Poor vision  |  7
HP:0012123  |  Posterior uveitis  |  7
HP:0000541  |  Detached retina  |  6
HP:0002960  |  Autoimmune condition  |  6
HP:0000491  |  Corneal inflammation  |  6
HP:0000822  |  Hypertension  |  5
HP:0000618  |  Blindness  |  5
HP:0011484  |  Posterior synechiae  |  5
HP:0100533  |  Ocular inflammation  |  5
HP:0000554  |  Uveitis  |  4
HP:0100532  |  Scleritis  |  4
HP:0012231  |  Exudative retinal detachment  |  4
HP:0001094  |  Iridocyclitis  |  4
HP:0200026  |  Ocular pain  |  3
HP:0011505  |  Cystoid macular edema  |  3
HP:0007777  |  Chorioretinal scar  |  3
HP:0002721  |  Immunodeficiency  |  3
HP:0100279  |  Ulcerative colitis  |  2
HP:0003765  |  Psoriasis  |  2
HP:0002664  |  Neoplasia  |  2
HP:0000613  |  Extreme light sensitivity  |  2
HP:0000716  |  Depression  |  2
HP:0012121  |  Panuveitis  |  2
HP:0000872  |  Hashimoto's thyroiditis  |  2
HP:0001141  |  Severe visual impairment  |  2
HP:0002829  |  Arthralgias  |  2
HP:0011531  |  Hyalitis  |  2
HP:0002861  |  Melanoma  |  2
HP:0001101  |  Iritis  |  2
HP:0012424  |  Chorioretinitis  |  2
HP:0000585  |  Band keratopathy  |  2
HP:0012124  |  Intermediate uveitis  |  2
HP:0012122  |  Anterior uveitis  |  2
HP:0100646  |  Thyroiditis  |  2
HP:0010885  |  Aseptic necrosis  |  1
HP:0002597  |  Abnormality of blood vessels  |  1
HP:0030652  |  Vitreous haze  |  1
HP:0001045  |  Blotchy loss of skin color  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0100832  |  Myiodeopsia  |  1
HP:0008030  |  Retinal arteritis  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0000608  |  Macular degeneration  |  1
HP:0003473  |  Fatigable weakness  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0001134  |  Anterior polar cataract  |  1
HP:0006689  |  Bacterial endocarditis  |  1
HP:0030731  |  Carcinoma  |  1
HP:0000529  |  Slowly progressive visual loss  |  1
HP:0003249  |  Genital ulcers  |  1
HP:0001945  |  Fever  |  1
HP:0100653  |  Optic neuritis  |  1
HP:0001596  |  Hair loss  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0000112  |  Nephropathy  |  1
HP:0000486  |  Squint eyes  |  1
HP:0002608  |  Celiac disease  |  1
HP:0011886  |  Hyphema  |  1
HP:0001096  |  Keratoconjunctivitis  |  1
HP:0010696  |  Polar cataract  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0001059  |  Pterygium  |  1
HP:0003418  |  Back pain  |  1
HP:0100778  |  Cryoglobulinemia  |  1
HP:0100014  |  Macular pucker  |  1
HP:0004729  |  Acute tubulointerstitial nephritis  |  1
HP:0000519  |  Cataracts, lenticular, bilateral  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0007902  |  Vitreous hemorrhage  |  1
HP:0012056  |  Cutaneous melanoma  |  1
HP:0002621  |  Atherosclerosis  |  1
HP:0030764  |  Ochronosis  |  1
HP:0000510  |  Retinitis pigmentosa  |  1
HP:0100662  |  Cartilage inflammation  |  1
HP:0009916  |  Asymmetric pupil sizes  |  1
HP:0030838  |  Hip pain  |  1
HP:0030357  |  Small cell lung carcinoma  |  1
HP:0003076  |  Glucosuria  |  1
HP:0012740  |  Papilloma  |  1
HP:0002313  |  Spastic paraparesis  |  1
HP:0012155  |  Reduced corneal sensation  |  1
HP:0001875  |  Neutropenia  |  1
HP:0011508  |  Macular hole  |  1
HP:0012393  |  Allergy  |  1
HP:0000488  |  Noninflammatory retina disease  |  1
HP:0000622  |  Blurred vision  |  1
HP:0000667  |  Phthisis bulbi  |  1
HP:0002586  |  Peritonitis  |  1
Disease ID 405
Disease uveitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:74)
C2707258  |  infections
C2697310  |  sarcoidosis
C2678504  |  osteoporosis
C2364133  |  infection
C2243086  |  basal cell adenocarcinoma
C2096315  |  headache
C2029884  |  hearing loss
C1998028  |  photoreceptor degeneration
C1963229  |  retinal detachment
C1962986  |  glaucoma
C1962983  |  cataract
C1843274  |  acute tubulointerstitial nephritis
C1611280  |  allergy
C1546654  |  granuloma
C1417325  |  multiple sclerosis
C1373218  |  immunosuppression
C1363843  |  retinal vascular changes
C1306068  |  secondary cataract
C1302690  |  retinal thickening
C1096278  |  anterior chamber inflammation
C0852949  |  arteriopathy
C0796095  |  c syndrome
C0730362  |  maculopathy
C0730345  |  microalbuminuria
C0729552  |  genital infection
C0700109  |  rigidity
C0595921  |  intraocular pressure
C0456909  |  blindness
C0442893  |  systemic disease
C0426768  |  o sign
C0343029  |  tuberculids
C0271215  |  legal blindness
C0271051  |  macular oedema
C0271051  |  macular edema
C0268780  |  idiopathic acute interstitial nephritis
C0241910  |  autoimmune hepatitis
C0238036  |  bronchocentric granulomatosis
C0221262  |  poliosis
C0162835  |  depigmentation
C0155288  |  papilledema
C0155118  |  corneal degeneration
C0152259  |  complicated cataract
C0152259  |  cataracta complicata
C0152253  |  posterior synechiae
C0149937  |  acute interstitial nephritis
C0149893  |  secondary glaucoma
C0086543  |  cataracts
C0042164  |  intraocular inflammation
C0041349  |  tubulointerstitial nephritis
C0041296  |  tuberculosis
C0040558  |  toxoplasmosis
C0040553  |  toxocariasis
C0036205  |  pulmonary sarcoidosis
C0035321  |  retinal tears
C0035321  |  retinal tear
C0035304  |  retinal degeneration
C0028840  |  ocular hypertension
C0027707  |  interstitial nephritis
C0027697  |  nephritis
C0024440  |  cystoid macular oedema
C0024440  |  cystoid macular edema
C0023316  |  lens subluxation
C0022568  |  keratitis
C0021053  |  immunity disorders
C0020097  |  htlv-i
C0019625  |  rosai-dorfman disease
C0017609  |  neovascular glaucoma
C0017601  |  glaucomas
C0015397  |  eye disease
C0014070  |  encephalomyelitis
C0010037  |  corneal edema
C0006035  |  borreliosis
C0004364  |  autoimmune disease
C0003864  |  arthritis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:41)
C0003864  |  arthritis  |  30
C0086543  |  cataract  |  26
C0017601  |  glaucoma  |  26
C0036202  |  sarcoidosis  |  21
C0149893  |  secondary glaucoma  |  14
C0442893  |  systemic disease  |  12
C0026769  |  multiple sclerosis  |  10
C0021888  |  intraocular pressure  |  9
C0009450  |  infection  |  8
C0027707  |  interstitial nephritis  |  8
C0271051  |  macular edema  |  8
C0041349  |  tubulointerstitial nephritis  |  7
C0027697  |  nephritis  |  7
C0041296  |  tuberculosis  |  6
C0021311  |  infections  |  6
C0035305  |  retinal detachment  |  5
C0152253  |  posterior synechiae  |  5
C0022568  |  keratitis  |  5
C0426768  |  o sign  |  5
C0040558  |  toxoplasmosis  |  4
C0456909  |  blindness  |  4
C0086543  |  cataracts  |  4
C0024440  |  cystoid macular edema  |  3
C0028840  |  ocular hypertension  |  3
C0004364  |  autoimmune disease  |  3
C0042164  |  intraocular inflammation  |  3
C0796095  |  c syndrome  |  2
C1096278  |  anterior chamber inflammation  |  2
C0152259  |  complicated cataract  |  2
C0017601  |  glaucomas  |  1
C0162835  |  depigmentation  |  1
C0241910  |  autoimmune hepatitis  |  1
C0010037  |  corneal edema  |  1
C0021079  |  immunosuppression  |  1
C0002111  |  allergy  |  1
C0036205  |  pulmonary sarcoidosis  |  1
C0018188  |  granuloma  |  1
C0271051  |  macular oedema  |  1
C0149937  |  acute interstitial nephritis  |  1
C0730362  |  maculopathy  |  1
C1843274  |  acute tubulointerstitial nephritis  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:14)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1061170234978443075CFHumls:C0042164BeFreeAssociation of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis.0.0005428842013CFH1196690107CT
rs1065489239663703075CFHumls:C0042164BeFreeThis study revealed an association of CFH-rs1065489 with AU as well as uveitis recurrence frequency.0.0005428842013CFH1196740644GT
rs10954213241161553663IRF5umls:C0042164BeFreeConsistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients.0.0002714422013IRF57128949373GA
rs17095830233081218213BASumls:C0042164BeFreeThe correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830.0.0002714422013ANO6;LOC1053697431245381125AG
rs1799969204451143383ICAM1umls:C0042164BeFreeG/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated with Fuchs uveitis.0.0805428842010ICAM1;LOC1053722721910284116GA
rs2004640241161553663IRF5umls:C0042164BeFreeConsistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients.0.0002714422013IRF57128938247TG
rs2075800175918673305HSPA1Lumls:C0042164BeFreeA strong association was found between HSP-70/Hom rs2075800 G and uveitis in patients with sarcoidosis.0.0002714422007HSPA1L631810169CT
rs2222202203356043586IL10umls:C0042164BeFreeThe results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490).0.0071770412010IL101206772036GA
rs3024490203356043586IL10umls:C0042164BeFreeThe results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490).0.0071770412010IL101206771966AC
rs361525203356047124TNFumls:C0042164GAD[The role of 12 polymorphisms spanning the TNFA and IL10 genomic regions was investigated in 192 uveitis patients and 92 population control subjects from four regional centers in the United Kingdom and Republic of Ireland.]0.0924539892010TNF631575324GA
rs4552569233081218213BASumls:C0042164BeFreeThe correlation between genetic polymorphisms, AS activity indexes, (namely, BASDAI, BASFI and BAS-G) and AS complications (uveitis and inflammatory bowel disease) were tested using the markers, rs4552569 and rs17095830.0.0002714422013NA583877774CT
rs6703630203356043586IL10umls:C0042164BeFreeThe results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490).0.0071770412010IL101206775294CT
rs6703630203356043586IL10umls:C0042164GAD[The results demonstrate that uveitis is associated with three haplotype-tagging SNPs (htSNPs) in the IL10 gene: htSNP2 (rs6703630), htSNP5 (rs2222202), and htSNP6 (rs3024490).]0.0071770412010IL101206775294CT
rs909253203356044049LTAumls:C0042164GAD[Since these variants are implicated in the susceptibility and severity of several immunologic disorders, the results support the hypothesis that common genetic determinants influence shared mechanisms of autoimmunity.]0.0094681282010LTA;LOC100287329631572536AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:2)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
596290647rs7705093CTrs7705093249579062.00E-09NA2.2[1.70-2.90] 117 European ancestry cases; 693 European ancestry controlsEuropean(810)ALL(810)EUR(810)ALL(810)Birdshot chorioretinopathyHPOID:0000554UveitisDOID:13141uveitisNANANANANArs7705093-TResearch Support, N.I.H., ExtramuralCLNPEP
14102845867rs150571175GArs150571175249579062.00E-07NA4.6[2.60-8.30] 117 European ancestry cases; 693 European ancestry controlsEuropean(810)ALL(810)EUR(810)ALL(810)Birdshot chorioretinopathyHPOID:0000554UveitisDOID:13141uveitisNANANANANArs150571175-AResearch Support, N.I.H., ExtramuralNATECPR2
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 405
Disease uveitis
Case(Waiting for update.)