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: Klatskin's tumor
Accession: DOID:4927
browse the term
Definition: An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. (DO)
Synonyms: exact_synonym: Klatskin tumor; Klatskin tumour; Klatskin's tumour; Klatskins tumor; hilar cholangiocarcinoma; hilar cholangiocarcinomas; hilar cholangiocellular carcinoma; perihilar cholangiocarcinoma; perihilar extrahepatic bile duct carcinoma
primary_id: MESH:D018285
alt_id: DOID:5246
xref: EFO:1001005 ; EFO:1001959 ; GARD:10175 ; NCI:C36077 ; ORDO:99978
For additional species annotation, visit the
Alliance of Genome Resources .
G
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
G
Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Gata6
GATA binding protein 6
sexual_dimorphism
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
G
Kmt2c
lysine methyltransferase 2C
onset
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
G
Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 4:178,185,418...178,218,484
G
Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
sexual_dimorphism
ISO
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:33387086 PMID:33387086
RGD:126848756 , RGD:126848756
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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