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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 cancer
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Accession:DOID:3121 term browser browse the term
Definition:A biliary tract cancer that is located_in the gallbladder. (DO)
Synonyms:exact_synonym: cancer of gallbladder;   gall bladder cancer;   gall bladder cancers;   gallbladder Ca;   gallbladder cancers;   localized malignant gallbladder neoplasm;   malignant neoplasm of gallbladder;   malignant tumor of the gallbladder;   malignant tumour of gallbladder
 xref: GARD:9328;   ICD10CM:C23;   ICD9CM:156.0;   NCI:C3048;   NCI:C35676;   NCI:C7481
For additional species annotation, visit the Alliance of Genome Resources.

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gallbladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway disease_progression ISO DNA:SNP::rs11954856(human) RGD PMID:26715268 RGD:151356500 NCBI chrNW_004936531:6,899,580...7,019,016
Ensembl chrNW_004936531:6,899,788...7,019,453 		JBrowse link
G Apob apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:17696941 PMID:20082485 RGD:2325761 RGD:2325764 NCBI chrNW_004936493:10,509,118...10,549,144
Ensembl chrNW_004936493:10,509,118...10,549,144 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Axin2 axin 2 disease_progression ISO DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chrNW_004936541:7,155,963...7,242,466
Ensembl chrNW_004936541:7,211,985...7,242,470 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chrNW_004936471:3,631,760...3,696,024
Ensembl chrNW_004936471:3,633,536...3,695,684 		JBrowse link
G Calr calreticulin exacerbates ISO mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chrNW_004936659:1,994,695...1,999,070
Ensembl chrNW_004936659:1,994,648...1,999,430 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chrNW_004936537:1,660,461...2,439,305
Ensembl chrNW_004936537:1,660,477...2,439,273 		JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:8093356 PMID:18571008 RGD:2317641 RGD:2317646 NCBI chrNW_004936563:1,058,803...1,181,393 JBrowse link
G Gli1 GLI family zinc finger 1 disease_progression ISO DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit exacerbates ISO protein:increased expression:gall bladder (human) RGD PMID:26318166 RGD:11528126 NCBI chrNW_004936659:1,890,786...1,892,619
Ensembl chrNW_004936659:1,891,080...1,892,123 		JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO DNA:missense mutations, frameshift mutations:cds:multiple (human) RGD PMID:18692501 RGD:6893398 NCBI chrNW_004936659:785,059...793,775
Ensembl chrNW_004936659:782,340...793,688 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More... NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G LOC101969148 cytochrome P450 1A1 ISO DNA:transition: :6235T>C (human)
DNA:polymorphism: :p.I462V (human) 		RGD PMID:18287863 PMID:18990008 RGD:2317211 RGD:2317212 NCBI chrNW_004936471:33,682,730...33,688,332
Ensembl chrNW_004936471:33,682,730...33,688,332 		JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase susceptibility ISO DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713 		JBrowse link
G Lrp1b LDL receptor related protein 1B ameliorates ISO DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chrNW_004936469:35,000,773...36,160,216
Ensembl chrNW_004936469:35,203,594...36,159,283 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 More... NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		JBrowse link
G Rbp4 retinol binding protein 4 disease_progression ISO associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) RGD PMID:37273108 RGD:329849105 NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208 		JBrowse link
G Rictor RPTOR independent companion of MTOR complex 2 ISO DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chrNW_004936518:3,198,312...3,314,393
Ensembl chrNW_004936518:3,198,337...3,310,000 		JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More... NCBI chrNW_004936497:12,242,869...12,278,012
Ensembl chrNW_004936497:12,249,140...12,278,123 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 More... NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphisms: :p.R194W, p.R399Q (human) RGD PMID:19266243 RGD:2317128 NCBI chrNW_004936706:752,571...783,746
Ensembl chrNW_004936706:751,108...783,777 		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 chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
gallbladder adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk1 cyclin dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chrNW_004936614:2,300,682...2,313,611
Ensembl chrNW_004936614:2,300,513...2,313,624 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chrNW_004936831:799,948...946,139
Ensembl chrNW_004936831:865,965...946,139 		JBrowse link
G LOC101968921 angiotensin-converting enzyme ISO DNA:polymorphism: :rs4646994 (human) RGD PMID:20438364 RGD:2325207 NCBI chrNW_004936541:4,157,847...4,178,156
Ensembl chrNW_004936541:4,157,393...4,178,177 		JBrowse link
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 chrNW_004936570:1,315,192...1,322,719 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 chrNW_004936469:55,639,345...55,699,330
Ensembl chrNW_004936469:55,639,068...55,699,640 		JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chrNW_004936491:13,288,986...13,516,878
Ensembl chrNW_004936491:13,288,717...13,516,984 		JBrowse link
G Birc3 baculoviral IAP repeat containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chrNW_004936551:5,544,047...5,556,550
Ensembl chrNW_004936551:5,544,065...5,556,555 		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 chrNW_004936599:3,678,724...3,682,314
Ensembl chrNW_004936599:3,677,804...3,682,307 		JBrowse link
G Clptm1l CLPTM1 like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chrNW_004936815:421,996...445,577
Ensembl chrNW_004936815:428,920...445,750 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chrNW_004936557:5,834,874...5,838,502
Ensembl chrNW_004936557:5,834,874...5,838,502 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chrNW_004936614:242,710...387,541
Ensembl chrNW_004936614:240,113...387,730 		JBrowse link
G Ptch1 patched 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chrNW_004936750:107,689...122,679
Ensembl chrNW_004936750:107,689...122,676 		JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697 		JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chrNW_004936491:14,659,089...14,758,614
Ensembl chrNW_004936491:14,657,100...14,758,848 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chrNW_004936483:1,814,870...2,045,802
Ensembl chrNW_004936483:1,814,894...2,030,946 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076 		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 chrNW_004936470:41,222,782...41,345,755
Ensembl chrNW_004936470:41,252,951...41,344,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      gastrointestinal system disease 6211
        Gastrointestinal Neoplasms 3358
          Gallbladder Neoplasms 73
            gallbladder cancer 42
              gallbladder carcinoma + 19
              gallbladder lymphoma 0
              gallbladder melanoma 0
              gallbladder sarcoma + 0
              intrahepatic gall duct cancer 0
              neurofibroma of gallbladder 0
Path 2
Term Annotations click to browse term
  disease 14641
    disease of cellular proliferation 7029
      Neoplasms by Site 6511
        Digestive System Neoplasms 3474
          Gastrointestinal Neoplasms 3358
            gastrointestinal system cancer 2631
              hepatobiliary system cancer 970
                biliary tract cancer 159
                  gallbladder cancer 42
                    gallbladder carcinoma + 19
                    gallbladder lymphoma 0
                    gallbladder melanoma 0
                    gallbladder sarcoma + 0
                    intrahepatic gall duct cancer 0
                    neurofibroma of gallbladder 0
paths to the root