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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:gallbladder carcinoma
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Accession:DOID:4948 term browser browse the term
Definition:A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)
Synonyms:exact_synonym: EFO:1001956;   cancer of the gallbladder;   carcinoma of gallbladder
 xref: EFO:1001956;   NCI:C3844
For additional species annotation, visit the Alliance of Genome Resources.


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gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO RGD PMID:7795450 RGD:2317512 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Actr3 actin related protein 3 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124 		JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Cfl1 cofilin 1 severity ISO Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:26619011 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Ptch1 patched 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:1565143 PMID:8023157 PMID:8062826 PMID:8164043 PMID:8336941 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates ISO human cell line in a mouse model RGD PMID:30775814 RGD:151665192 NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
adenosquamous gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169 		JBrowse link
gallbladder adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:polymorphism: :rs4646994 (human) RGD PMID:20438364 RGD:2325207 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        Glandular and Epithelial Neoplasms 3810
          carcinoma 3282
            gallbladder carcinoma 25
              adenosquamous gallbladder carcinoma 2
              gallbladder adenocarcinoma + 4
              gallbladder carcinoma in situ 0
              gallbladder small cell carcinoma 0
              gallbladder squamous cell carcinoma 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Neoplasms by Site 7370
        Digestive System Neoplasms 3852
          Gastrointestinal Neoplasms 3728
            gastrointestinal system cancer 2919
              hepatobiliary system cancer 1102
                biliary tract cancer 183
                  gallbladder cancer 48
                    gallbladder carcinoma 25
                      adenosquamous gallbladder carcinoma 2
                      gallbladder adenocarcinoma + 4
                      gallbladder carcinoma in situ 0
                      gallbladder small cell carcinoma 0
                      gallbladder squamous cell carcinoma 0
paths to the root