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
Accession: DOID:9005065
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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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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
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GSTM1
glutathione S-transferase mu 1
ISO
RGD
PMID:14735473
RGD:14701001
Ensembl chr 1:127,979,238...128,010,411
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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
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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
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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
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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
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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
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GSTM1
glutathione S-transferase mu 1
ISO
RGD
PMID:18507060
RGD:14700975
Ensembl chr 1:127,979,238...128,010,411
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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
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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
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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
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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
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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
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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
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