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: salivary gland carcinoma
Accession: DOID:0050904
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Definition: A salivary gland cancer that has_material_basis_in epithelial cells. (DO)
Synonyms: narrow_synonym: Major Salivary Gland Carcinoma; Minor Salivary Gland Adenocarcinoma; Salivary Gland Adenosquamous Carcinoma; Salivary Gland Basal Cell Adenocarcinoma; Salivary Gland Large Cell Carcinoma; salivary gland squamous cell carcinoma
xref: EFO:1000344 ; EFO:1000379 ; EFO:1000514 ; EFO:1000516 ; EFO:1000517 ; EFO:1001967
G
KDR
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:26498950
RGD:126907998
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
G
PTGS1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:26498950
RGD:126907998
NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283
G
RAD52
RAD52 homolog, DNA repair protein
sexual_dimorphism
ISO
DNA:SNP:intron: (rs3748522) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668
G
XRCC4
X-ray repair cross complementing 4
sexual_dimorphism
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490
G
MTUS1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chr 8:16,863,307...17,020,684
G
XRCC4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490
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