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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   panuveitis
  

Disease ID 1369
Disease panuveitis
Definition
Inflammation in which both the anterior and posterior segments of the uvea are involved and a specific focus is not apparent. It is often severe and extensive and a serious threat to vision. Causes include systemic diseases such as tuberculosis, sarcoidosis, and syphilis, as well as malignancies. The intermediate segment of the eye is not involved.
Synonym
diffuse uveitis
panuveitis (disorder)
panuveitis [disease/finding]
Orphanet
DOID
UMLS
C0030343
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:33)
C0035305  |  retinal detachment  |  10
C0008526  |  choroiditis  |  6
C0035305  |  retinal detachments  |  5
C0042384  |  vasculitis  |  3
C0271051  |  macular edema  |  2
C0042164  |  uveitis  |  2
C0017601  |  glaucoma  |  2
C0042900  |  vitiligo  |  2
C0008513  |  chorioretinitis  |  1
C0035333  |  retinitis  |  1
C0035435  |  rheumatic disease  |  1
C0024441  |  macular hole  |  1
C0008513  |  retinochoroiditis  |  1
C0002170  |  alopecia  |  1
C0023788  |  whipple disease  |  1
C0456909  |  blindness  |  1
C0238463  |  papillary thyroid carcinoma  |  1
C0035328  |  retinal vein occlusion  |  1
C0042769  |  virus infection  |  1
C0024440  |  cystoid macular edema  |  1
C0003873  |  rheumatoid arthritis  |  1
C0162293  |  papillitis  |  1
C0152026  |  retinal vasculitis  |  1
C0015397  |  ocular disease  |  1
C0035435  |  rheumatic diseases  |  1
C0949691  |  spondyloarthropathy  |  1
C0022073  |  iridocyclitis  |  1
C0039128  |  syphilis  |  1
C0042167  |  posterior uveitis  |  1
C0035309  |  retinal disease  |  1
C0007115  |  thyroid ca  |  1
C0036202  |  sarcoidosis  |  1
C0549473  |  thyroid carcinoma  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:77)
125061  |  AFMID  |  2.133  |  DISEASES
567  |  B2M  |  2.497  |  DISEASES
676  |  BRDT  |  1.465  |  DISEASES
720  |  C4A  |  1.457  |  DISEASES
721  |  C4B  |  1.4  |  DISEASES
766  |  CA7  |  1.453  |  DISEASES
9332  |  CD163  |  1.066  |  DISEASES
959  |  CD40LG  |  3.858  |  DISEASES
966  |  CD59  |  1.484  |  DISEASES
629  |  CFB  |  1.054  |  DISEASES
3075  |  CFH  |  2.095  |  DISEASES
3080  |  CFHR2  |  2.032  |  DISEASES
3426  |  CFI  |  1.444  |  DISEASES
8804  |  CREG1  |  3.066  |  DISEASES
2833  |  CXCR3  |  1.716  |  DISEASES
51428  |  DDX41  |  1.265  |  DISEASES
7913  |  DEK  |  2.064  |  DISEASES
1717  |  DHCR7  |  1.281  |  DISEASES
6993  |  DYNLT1  |  2.243  |  DISEASES
1896  |  EDA  |  1.882  |  DISEASES
64167  |  ERAP2  |  1.235  |  DISEASES
346007  |  EYS  |  1.149  |  DISEASES
356  |  FASLG  |  1.066  |  DISEASES
50943  |  FOXP3  |  1.125  |  DISEASES
3105  |  HLA-A  |  3.091  |  DISEASES
3106  |  HLA-B  |  4.088  |  DISEASES
3107  |  HLA-C  |  1.519  |  DISEASES
3115  |  HLA-DPB1  |  2.605  |  DISEASES
3117  |  HLA-DQA1  |  2.371  |  DISEASES
3119  |  HLA-DQB1  |  1.998  |  DISEASES
3123  |  HLA-DRB1  |  1.945  |  DISEASES
3550  |  IK  |  1.528  |  DISEASES
3586  |  IL10  |  3.137  |  DISEASES
3605  |  IL17A  |  2.551  |  DISEASES
84639  |  IL1F10  |  1.532  |  DISEASES
149233  |  IL23R  |  2.473  |  DISEASES
3559  |  IL2RA  |  2.327  |  DISEASES
55683  |  KANSL3  |  1.546  |  DISEASES
3778  |  KCNMA1  |  2.371  |  DISEASES
23046  |  KIF21B  |  1.908  |  DISEASES
4049  |  LTA  |  1.625  |  DISEASES
4155  |  MBP  |  2.755  |  DISEASES
79104  |  MEG8  |  1.383  |  DISEASES
100507436  |  MICA  |  2.542  |  DISEASES
50488  |  MINK1  |  2.229  |  DISEASES
81565  |  NDEL1  |  3.649  |  DISEASES
114548  |  NLRP3  |  1.972  |  DISEASES
4942  |  OAT  |  1.563  |  DISEASES
100506658  |  OCLN  |  1.056  |  DISEASES
5133  |  PDCD1  |  1.199  |  DISEASES
11331  |  PHB2  |  2.81  |  DISEASES
9600  |  PITPNM1  |  1.157  |  DISEASES
5464  |  PPA1  |  1.281  |  DISEASES
5698  |  PSMB9  |  3.393  |  DISEASES
100130889  |  PSORS1C3  |  2.725  |  DISEASES
5737  |  PTGFR  |  1.496  |  DISEASES
26191  |  PTPN22  |  1.727  |  DISEASES
6171  |  RPL41  |  1.705  |  DISEASES
6295  |  SAG  |  4.861  |  DISEASES
5265  |  SERPINA1  |  2.816  |  DISEASES
55315  |  SLC29A3  |  1.584  |  DISEASES
57153  |  SLC44A2  |  1.853  |  DISEASES
8651  |  SOCS1  |  1.243  |  DISEASES
23111  |  SPG20  |  1.042  |  DISEASES
6731  |  SRP72  |  1.548  |  DISEASES
6775  |  STAT4  |  1.009  |  DISEASES
342898  |  SYCN  |  1.714  |  DISEASES
7096  |  TLR1  |  1.108  |  DISEASES
7099  |  TLR4  |  2.696  |  DISEASES
7124  |  TNF  |  4.102  |  DISEASES
7133  |  TNFRSF1B  |  4.145  |  DISEASES
8718  |  TNFRSF25  |  1.368  |  DISEASES
7293  |  TNFRSF4  |  1.622  |  DISEASES
9652  |  TTC37  |  1.188  |  DISEASES
337867  |  UBAC2  |  2.484  |  DISEASES
7422  |  VEGFA  |  2.209  |  DISEASES
7710  |  ZNF154  |  2.278  |  DISEASES
Locus(Waiting for update.)
Disease ID 1369
Disease panuveitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:29)
HP:0000541  |  Detached retina  |  10
HP:0012123  |  Posterior uveitis  |  8
HP:0012231  |  Exudative retinal detachment  |  6
HP:0001045  |  Blotchy loss of skin color  |  3
HP:0002290  |  Poliosis  |  3
HP:0002633  |  Vasculitis  |  3
HP:0001596  |  Hair loss  |  2
HP:0040049  |  Macular edema  |  2
HP:0002721  |  Immunodeficiency  |  2
HP:0000554  |  Uveitis  |  2
HP:0000969  |  Dropsy  |  2
HP:0000501  |  Glaucoma  |  2
HP:0012531  |  Pain  |  1
HP:0000613  |  Extreme light sensitivity  |  1
HP:0000572  |  Visual loss  |  1
HP:0012636  |  Retinal vein occlusion  |  1
HP:0007866  |  Retinal infarction  |  1
HP:0200026  |  Ocular pain  |  1
HP:0012424  |  Chorioretinitis  |  1
HP:0000618  |  Blindness  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0002895  |  Papillary thyroid carcinoma  |  1
HP:0011508  |  Macular hole  |  1
HP:0000518  |  Cataract  |  1
HP:0011505  |  Cystoid macular edema  |  1
HP:0009926  |  Epiphora  |  1
HP:0008052  |  Retinal fold  |  1
HP:0002890  |  Thyroid carcinoma  |  1
HP:0001094  |  Iridocyclitis  |  1
Disease ID 1369
Disease panuveitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:6)
C2364133  |  infection
C1843274  |  acute tubulointerstitial nephritis
C1328519  |  retinal pigment epithelial tear
C0151827  |  ocular pain
C0042170  |  vogt-koyanagi-harada syndrome
C0035321  |  retinal tears
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1061170234978443075CFHumls:C0030343BeFreeCarriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation.0.0002714422013CFH1196690107CT
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 1369
Disease panuveitis
Case(Waiting for update.)