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encyclopedia of Rare Disease Annotation for Precision Medicine



   leukoplakia
  

Disease ID 1812
Disease leukoplakia
Definition
A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES.
Synonym
keratotic plaque
lesion, leukoplakic
lesions, leukoplakic
leucoplakia
leukokeratosis
leukoplakia (disorder)
leukoplakia (morphologic abnormality)
leukoplakia [disease/finding]
leukoplakia, nos
leukoplakias
leukoplakic lesion
leukoplakic lesions
UMLS
C0023531
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:22)
C0878500  |  epithelial dysplasia  |  7
C0026640  |  oral cancer  |  4
C0023646  |  lichen planus  |  3
C0031099  |  periodontitis  |  2
C0870082  |  hyperkeratosis  |  2
C0015625  |  fanconi anemia  |  1
C0036262  |  scabies  |  1
C0017168  |  oesophageal reflux  |  1
C0032305  |  pneumocystis carinii pneumonia  |  1
C0022596  |  palmoplantar keratoderma  |  1
C0151546  |  oral carcinoma  |  1
C0017168  |  gastroesophageal reflux  |  1
C0030354  |  papilloma  |  1
C0032305  |  pneumocystis  |  1
C0032285  |  pneumonia  |  1
C0007137  |  squamous cell carcinoma  |  1
C0206706  |  verrucous carcinoma  |  1
C0017168  |  esophageal reflux  |  1
C0002874  |  aplastic anemia  |  1
C0011334  |  caries  |  1
C0014804  |  erythromelalgia  |  1
C0002871  |  anaemia  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1812
Disease leukoplakia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:23)
HP:0030731  |  Carcinoma  |  3
HP:0000962  |  Hyperkeratosis  |  2
HP:0000704  |  Pyorrhea  |  2
HP:0002664  |  Neoplasia  |  2
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0002020  |  Heartburn  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0001903  |  Anemia  |  1
HP:0002090  |  Pneumonia  |  1
HP:0001915  |  Aplastic anemia  |  1
HP:0012224  |  Circulating immune complexes  |  1
HP:0001019  |  Exfoliative dermititis  |  1
HP:0002290  |  Poliosis  |  1
HP:0010783  |  Erythema  |  1
HP:0001061  |  Acne  |  1
HP:0100725  |  Lichenification  |  1
HP:0001548  |  Overgrowth  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0000695  |  Natal teeth  |  1
HP:0000982  |  Palmoplantar keratoderma  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0000670  |  Dental caries  |  1
HP:0012740  |  Papilloma  |  1
Disease ID 1812
Disease leukoplakia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:8)
C1608408  |  malignant transformation
C1549524  |  mucous membrane
C0878500  |  epithelial dysplasia
C0857069  |  chronic candidiasis
C0265965  |  engman syndrome
C0220641  |  oral cancer
C0033774  |  pruritis
C0006849  |  oral candidiasis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:3)
C1608408  |  malignant transformation  |  7
C0878500  |  epithelial dysplasia  |  7
C0026640  |  oral cancer  |  5
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:26)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1052133217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011OGG1;CAMK139757089CG
rs1052133217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011OGG1;CAMK139757089CG
rs1138272217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011GSTP11167586108CT
rs1138272217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011GSTP11167586108CT
rs12360870234372805591PRKDCumls:C0023531BeFreeTwo SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were found to be significantly associated only with leukoplakia.0.0002714422013MRE11A1194440881TC
rs12360870234372804361MRE11Aumls:C0023531BeFreeTwo SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were found to be significantly associated only with leukoplakia.0.0002714422013MRE11A1194440881TC
rs13181217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011ERCC2;KLC31945351661TA,G
rs13181217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011ERCC2;KLC31945351661TA,G
rs1695217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011GSTP11167585218AG
rs1695217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011GSTP11167585218AG
rs1799782217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011XRCC11943553422GA
rs1799782217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011XRCC11943553422GA
rs1799791217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011ERCC21945364545GC
rs1799791217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011ERCC21945364545GC
rs1799793217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011ERCC21945364001CT
rs1799793217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011ERCC21945364001CT
rs2031920217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011CYP2E110133526341CT
rs2031920217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011CYP2E110133526341CT
rs25487217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011XRCC11943551574TC
rs25487217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011XRCC11943551574TC
rs3813867217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011CYP2E110133526101GC
rs3813867217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011CYP2E110133526101GC
rs4646903217418762944GSTM1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011CYP1A11574719300AT,G
rs4646903217418762952GSTT1umls:C0023531BeFreeWe examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 null, GSTT1 null, rs1695, rs1138272, rs1799782, rs25487, rs1799791, rs1799793, rs13181 and rs1052133) involved in various stages of tobacco and alcohol metabolism and the risk of leukoplakia and oral cancer (OC) in a case-control study involving 219 oral leukoplakia, 665 OC and 802 age, sex and habit-matched controls.0.0058198312011CYP1A11574719300AT,G
rs7003908234372804361MRE11Aumls:C0023531BeFreeTwo SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were found to be significantly associated only with leukoplakia.0.0002714422013PRKDC847858141CA
rs7003908234372805591PRKDCumls:C0023531BeFreeTwo SNPs (rs12360870 of MRE11A, P-value: 2.37E-07 and rs7003908 of PRKDC, P-value: 7.99E-05) were found to be significantly associated only with leukoplakia.0.0002714422013PRKDC847858141CA
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 1812
Disease leukoplakia
Case(Waiting for update.)