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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



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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 chr11:65,500,074...65,539,158
Ensembl chr11:68,794,162...68,823,857
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:14735473 RGD:14701001 Ensembl chr 1:127,979,238...128,010,411 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:18288488 PMID:29928356 RGD:150340604 RGD:150340709 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G AXIN2 axin 2 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO protein:increased expression:tongue: RGD PMID:12167434 RGD:8547871 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A susceptibility ISO DNA:polymorphism:exon:149A>G(human) RGD PMID:10873097 RGD:8662371 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:18507060 RGD:14700975 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOC100994157 histone H2AX disease_progression ISO protein:increased expression:mucosa of oral region (human) RGD PMID:29928356 RGD:150340604 NCBI chr11:113,932,078...113,933,679 JBrowse link
G NAT2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphisms,haplotype:exon: RGD PMID:17290401 RGD:8552678 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18202791 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G SNAI1 snail family transcriptional repressor 1 disease_progression ISO RGD PMID:28939076 RGD:151356661 NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733
JBrowse link
G TP53 tumor protein p53 ISO protein:increased expression:oral mucosa:
protein:increased expression:tongue:
RGD PMID:12167434 PMID:23776093 RGD:8547855 RGD:8547871 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  disease 18006
    Pathological Conditions, Signs and Symptoms 12014
      Anatomical Pathological Conditions 2467
        Leukoplakia 13
          esophageal leukoplakia 0
          oral mucosa leukoplakia + 12
paths to the root