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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:oral mucosa leukoplakia
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Accession:DOID:9655 term browser browse the term
Definition:A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. (DO)
Synonyms:exact_synonym: Keratosis, Oral;   Oral Leukokeratoses;   Oral Leukokeratosis;   Oral Leukoplakia;   Oral Leukoplakias;   mouth mucous membrane leukoplakia
 narrow_synonym: leukoplakia of tongue
 primary_id: MESH:D007972
 xref: EFO:0006884;   EFO:0006885;   ICD10CM:K13.2;   ICD10CM:K13.21;   ICD9CM:528.6;   NCI:C3187


show annotations for term's descendants           Sort by:
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
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		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 21086
    sensory system disease 6847
      mouth disease 935
        oral mucosa leukoplakia 13
          oral hairy leukoplakia 0
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        Neurologic Manifestations 9942
          sensory system disease 6847
            mouth disease 935
              Mouth Neoplasms 269
                oral mucosa leukoplakia 13
                  oral hairy leukoplakia 0
paths to the root