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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   cytomegalovirus retinitis
  

Disease ID 1558
Disease cytomegalovirus retinitis
Definition
Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in AIDS patients and can cause blindness.
Synonym
cmv - cytomegalovirus retinitis
cmv retinitis
cytomegaloviral retinitis
cytomegaloviral retinitis (disorder)
cytomegalovirus retinitis [disease/finding]
retinitis cmv
retinitis, cytomegaloviral
retinitis, cytomegalovirus
UMLS
C0206178
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:31)
C0001175  |  acquired immunodeficiency syndrome  |  7
C0035305  |  retinal detachment  |  3
C0042164  |  uveitis  |  2
C0032285  |  pneumonia  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0022073  |  iridocyclitis  |  1
C0023418  |  leukemia  |  1
C0027813  |  neuritis  |  1
C0042164  |  intraocular inflammation  |  1
C0014236  |  endophthalmitis  |  1
C0085669  |  acute leukemia  |  1
C0086543  |  cataract  |  1
C0029134  |  optic neuritis  |  1
C0020538  |  hypertension  |  1
C0024305  |  non-hodgkin's lymphoma  |  1
C0221027  |  good's syndrome  |  1
C0009324  |  ulcerative colitis  |  1
C0036220  |  kaposi's sarcoma  |  1
C0206744  |  idiopathic cd4+ t lymphocytopenia  |  1
C0011847  |  diabetes  |  1
C0206744  |  cd4+ t lymphocytopenia  |  1
C0043092  |  wegener's granulomatosis  |  1
C0409974  |  lupus erythematosus  |  1
C0028242  |  nocardiosis  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0026764  |  multiple myeloma  |  1
C0036454  |  visual field loss  |  1
C0009319  |  colitis  |  1
C0013595  |  eczema  |  1
C0024440  |  cystoid macular edema  |  1
C0456909  |  blindness  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:35)
153  |  ADRB1  |  1.501  |  DISEASES
375790  |  AGRN  |  1.617  |  DISEASES
100506742  |  CASP12  |  1.296  |  DISEASES
6354  |  CCL7  |  1.269  |  DISEASES
1232  |  CCR3  |  1.17  |  DISEASES
959  |  CD40LG  |  2.631  |  DISEASES
1025  |  CDK9  |  1.127  |  DISEASES
80184  |  CEP290  |  1.887  |  DISEASES
1154  |  CISH  |  1.536  |  DISEASES
81704  |  DOCK8  |  2.101  |  DISEASES
1908  |  EDN3  |  1.268  |  DISEASES
2323  |  FLT3LG  |  2.676  |  DISEASES
2550  |  GABBR1  |  3.855  |  DISEASES
148738  |  HFE2  |  1.643  |  DISEASES
3105  |  HLA-A  |  1.417  |  DISEASES
3106  |  HLA-B  |  1.845  |  DISEASES
3119  |  HLA-DQB1  |  2.046  |  DISEASES
3120  |  HLA-DQB2  |  1.246  |  DISEASES
3376  |  IARS  |  1.323  |  DISEASES
3586  |  IL10  |  1.458  |  DISEASES
4038  |  LRP4  |  2.252  |  DISEASES
4049  |  LTA  |  1.044  |  DISEASES
4050  |  LTB  |  2.396  |  DISEASES
4942  |  OAT  |  1.253  |  DISEASES
5076  |  PAX2  |  1.238  |  DISEASES
56963  |  RGMA  |  1.91  |  DISEASES
83695  |  RHNO1  |  1.015  |  DISEASES
6152  |  RPL24  |  1.759  |  DISEASES
6564  |  SLC15A1  |  2.147  |  DISEASES
6540  |  SLC6A13  |  1.711  |  DISEASES
8651  |  SOCS1  |  1.022  |  DISEASES
7072  |  TIA1  |  1.164  |  DISEASES
7124  |  TNF  |  1.692  |  DISEASES
10381  |  TUBB3  |  1.478  |  DISEASES
9094  |  UNC119  |  2.393  |  DISEASES
Locus(Waiting for update.)
Disease ID 1558
Disease cytomegalovirus retinitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:29)
HP:0002721  |  Immunodeficiency  |  9
HP:0000541  |  Detached retina  |  3
HP:0000554  |  Uveitis  |  2
HP:0001909  |  Leukemia  |  1
HP:0012089  |  Arteritis  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0000618  |  Blindness  |  1
HP:0007902  |  Vitreous hemorrhage  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0002090  |  Pneumonia  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0002583  |  Colitis  |  1
HP:0100014  |  Macular pucker  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0100533  |  Ocular inflammation  |  1
HP:0000518  |  Cataract  |  1
HP:0000822  |  Hypertension  |  1
HP:0007663  |  Central visual loss  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0100653  |  Optic neuritis  |  1
HP:0011505  |  Cystoid macular edema  |  1
HP:0000505  |  Poor vision  |  1
HP:0001094  |  Iridocyclitis  |  1
HP:0007985  |  Retinal arteriolar occlusion  |  1
HP:0006775  |  Multiple myeloma  |  1
HP:0005403  |  Decreased numbers of circulating T cells  |  1
HP:0000573  |  Retinal hemorrhage  |  1
HP:0100726  |  Kaposi's sarcoma  |  1
HP:0000964  |  Eczema  |  1
Disease ID 1558
Disease cytomegalovirus retinitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:13)
C1963266  |  uveitis
C1963229  |  retinal detachment
C1532529  |  frosted branch angiitis
C0456909  |  vision loss
C0426768  |  o sign
C0235812  |  vitritis
C0221027  |  good's syndrome
C0035321  |  retinal tears
C0035305  |  retinal detachments
C0031129  |  periphlebitis
C0028841  |  ocular hypotony
C0024440  |  cystoid macular edema
C0019080  |  hemorrhage
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:5)
C0035305  |  retinal detachment  |  3
C0042164  |  uveitis  |  2
C0019080  |  hemorrhage  |  1
C0221027  |  good's syndrome  |  1
C0024440  |  cystoid macular edema  |  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
rs2228055206179243587IL10RAumls:C0206178BeFreeIn European Americans (n = 750), a haplotype carrying an amino acid changing variation in the cytoplasmic domain (S420L) of IL-10R1 can be protective (OR, 0.14; 95% CI, 0.02-0.94; P = .04) against, whereas another haplotype carrying an amino acid changing variation in the extracellular domain (I224V) of IL-10R1 can be more susceptible (OR, 6.21; 95% CI, 1.22- 31.54; P = .03) to CMV retinitis.0.0026384742010IL10RA11117994131AG
rs2229114206179243587IL10RAumls:C0206178BeFreeIn European Americans (n = 750), a haplotype carrying an amino acid changing variation in the cytoplasmic domain (S420L) of IL-10R1 can be protective (OR, 0.14; 95% CI, 0.02-0.94; P = .04) against, whereas another haplotype carrying an amino acid changing variation in the extracellular domain (I224V) of IL-10R1 can be more susceptible (OR, 6.21; 95% CI, 1.22- 31.54; P = .03) to CMV retinitis.0.0026384742010IL10RA11117999163CT
rs386479044206179243587IL10RAumls:C0206178BeFreeIn European Americans (n = 750), a haplotype carrying an amino acid changing variation in the cytoplasmic domain (S420L) of IL-10R1 can be protective (OR, 0.14; 95% CI, 0.02-0.94; P = .04) against, whereas another haplotype carrying an amino acid changing variation in the extracellular domain (I224V) of IL-10R1 can be more susceptible (OR, 6.21; 95% CI, 1.22- 31.54; P = .03) to CMV retinitis.0.0026384742010NANANANANA
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 1558
Disease cytomegalovirus retinitis
Case(Waiting for update.)