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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   trachoma
  

Disease ID 765
Disease trachoma
Definition
A chronic infection of the CONJUNCTIVA and CORNEA caused by CHLAMYDIA TRACHOMATIS.
Synonym
[x]trachoma, unspecified
[x]trachoma, unspecified (disorder)
egyptian ophthalmia
ophthalmia, egyptian
trachoma (disorder)
trachoma [disease/finding]
trachoma nos
trachoma, nos
trachoma, unspecified
trachomas
unspecified trachoma
unspecified trachoma (disorder)
DOID
ICD10
UMLS
C0040592
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:3)
C0456909  |  blindness  |  18
C0008148  |  chlamydia  |  2
C0029001  |  onchocerciasis  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:7)
3106  |  HLA-B  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3586  |  IL10  |  CIPHER
3565  |  IL4  |  CIPHER
4153  |  MBL2  |  CIPHER
7124  |  TNF  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:24)
9308  |  CD83  |  1.334  |  DISEASES
1490  |  CTGF  |  1.837  |  DISEASES
4283  |  CXCL9  |  1.181  |  DISEASES
51071  |  DERA  |  3.288  |  DISEASES
79947  |  DHDDS  |  2.819  |  DISEASES
1660  |  DHX9  |  2.18  |  DISEASES
29103  |  DNAJC15  |  3.284  |  DISEASES
2022  |  ENG  |  1.087  |  DISEASES
3107  |  HLA-C  |  1.643  |  DISEASES
3339  |  HSPG2  |  1.441  |  DISEASES
3586  |  IL10  |  1.313  |  DISEASES
3652  |  IPP  |  2.269  |  DISEASES
3803  |  KIR2DL2  |  2.344  |  DISEASES
3804  |  KIR2DL3  |  2.377  |  DISEASES
100507436  |  MICA  |  1.517  |  DISEASES
4312  |  MMP1  |  1.554  |  DISEASES
4318  |  MMP9  |  2.343  |  DISEASES
26151  |  NAT9  |  1.913  |  DISEASES
58484  |  NLRC4  |  1.974  |  DISEASES
4843  |  NOS2  |  1.145  |  DISEASES
6278  |  S100A7  |  2.017  |  DISEASES
6443  |  SGCB  |  1.492  |  DISEASES
246744  |  STH  |  1.872  |  DISEASES
7124  |  TNF  |  1.353  |  DISEASES
Locus(Waiting for update.)
Disease ID 765
Disease trachoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
Disease ID 765
Disease trachoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:23)
C2707258  |  infections
C2364133  |  infection
C1962986  |  glaucoma
C1962983  |  cataract
C1707516  |  corneal sensitivity
C1611280  |  allergy
C0700109  |  rigidity
C0521573  |  coloboma palpebrale
C0456909  |  blindness
C0221259  |  trichiasis
C0155191  |  cicatricial entropion
C0155141  |  acute conjunctivitis
C0155118  |  corneal degeneration
C0086543  |  cataracts
C0043349  |  xerophthalmia
C0042798  |  low vision
C0038826  |  superinfection
C0033377  |  ptosis
C0019080  |  hemorrhage
C0014390  |  entropion
C0010930  |  dacryocystitis
C0008149  |  chlamydial infection
C0008149  |  chlamydia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
C0456909  |  blindness  |  21
C0009450  |  infection  |  13
C0021311  |  infections  |  4
C0042798  |  low vision  |  4
C0221259  |  trichiasis  |  2
C0008148  |  chlamydia  |  2
C0008149  |  chlamydial infection  |  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
rs33420552021283297OR10A4umls:C0040592BeFreeThe objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children.0.0002714422010HBB115227002TG,C,A
rs547020552021283297OR10A4umls:C0040592BeFreeThe objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children.0.0002714422010HP1672054522CG
rs547120552021283297OR10A4umls:C0040592BeFreeThe objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children.0.0002714422010HP1672054562AC,G
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 765
Disease trachoma
Case(Waiting for update.)