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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Leukoplakia
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Accession:DOID:9005065 term browser browse the term
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.
Synonyms:exact_synonym: Leukokeratoses;   Leukokeratosis;   Leukoplakias;   Leukoplakic Lesion;   Leukoplakic Lesions
 primary_id: MESH:D007971;   RDO:0006001
For additional species annotation, visit the Alliance of Genome Resources.



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Leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cttn cortactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:27148699 NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:14735473 RGD:14701001 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:16475728 RGD:14701002 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
oral mucosa leukoplakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase severity ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 PMID:18288488 RGD:150340604, RGD:150340709 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Axin2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 PMID:10873097 RGD:8662371, RGD:8662371 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:polymorphism:cds:p.K751Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:18507060 RGD:14700975 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H2ax H2A.X variant histone disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Snai1 snail family transcriptional repressor 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
JBrowse link
G Tp53 tumor protein p53 ISO
IEP
IMP
protein:increased expression:oral mucosa:
protein:increased expression:tongue:
DNA:mutations:cds:
RGD PMID:23776093 PMID:12167434 PMID:12167434 RGD:8547855, RGD:8547871, RGD:8547871 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism,haplotye:cds:p.R399Q(human) RGD PMID:17290401 RGD:8552678 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Pathological Conditions, Signs and Symptoms 11166
      Anatomical Pathological Conditions 2142
        Leukoplakia 14
          esophageal leukoplakia 0
          oral mucosa leukoplakia + 13
paths to the root