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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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067 		JBrowse link
G APOB apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:17696941 PMID:20082485 RGD:2325761 RGD:2325764 NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438 		JBrowse link
G AXIN2 axin 2 disease_progression ISO DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr21:109,495,525...109,690,261 JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306 		JBrowse link
G CALR calreticulin exacerbates ISO mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr 6:11,618,691...11,624,299
Ensembl chr 6:11,618,396...11,623,792 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 onset ISO DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:18405329 RGD:2317570 NCBI chr22:7,803,794...7,818,112 JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 susceptibility ISO DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :p.I462V (human)
DNA:transition: :6235T>C (human) 		RGD PMID:18287863 PMID:18990008 RGD:2317211 RGD:2317212 NCBI chr26:8,753,236...8,759,378
Ensembl chr26:8,753,327...8,759,384 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr20:35,376,738...36,215,388
Ensembl chr20:35,377,266...36,215,679 		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 chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516 		JBrowse link
G GLI1 GLI family zinc finger 1 disease_progression ISO DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269 		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 chr 6:11,479,108...11,480,942
Ensembl chr 6:11,479,407...11,480,450 		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 chr 6:9,515,789...9,526,699
Ensembl chr 6:9,515,416...9,522,797 		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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr20:23,854,969...23,861,634 JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates ISO DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111 		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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		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 chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 ISO DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr 4:37,758,531...37,885,323
Ensembl chr 4:37,762,901...37,873,766 		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 chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		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 chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		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 chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674 		JBrowse link
G LOC103238018 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:128,309...129,543 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 chr 9:70,475,736...70,492,947 JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674 		JBrowse link
G LOC103238018 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:128,309...129,543 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 chr12:4,863,100...4,892,204
Ensembl chr12:4,863,165...4,885,849 		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 chr10:16,296,350...16,369,561
Ensembl chr10:16,297,502...16,369,220 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr14:37,849,911...38,116,339
Ensembl chr14:37,877,436...38,115,938 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr 1:93,692,239...93,711,905 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 1:8,408,560...8,410,564 JBrowse link
G CLPTM1L CLPTM1 like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898 		JBrowse link
G GPX3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr23:53,576,950...53,585,321 JBrowse link
G IL10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836 		JBrowse link
G LOC103219825 protein patched homolog 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr 8:15,739,220...15,899,834
Ensembl chr 8:15,741,294...15,853,293 		JBrowse link
G RAC1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr28:15,583,609...15,610,753
Ensembl chr28:15,583,516...15,610,328 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468 		JBrowse link
G TGFA transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr14:36,545,641...36,654,213
Ensembl chr14:36,545,875...36,648,237 		JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950 		JBrowse link
G TYMP thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215 		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 8:97,104,325...97,257,317
Ensembl chr 8:97,103,220...97,257,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      gastrointestinal system disease 6470
        Gastrointestinal Neoplasms 3505
          Gallbladder Neoplasms 77
            gallbladder cancer 44
              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 15420
    disease of cellular proliferation 7320
      Neoplasms by Site 6783
        Digestive System Neoplasms 3622
          Gastrointestinal Neoplasms 3505
            gastrointestinal system cancer 2750
              hepatobiliary system cancer 1000
                biliary tract cancer 165
                  gallbladder cancer 44
                    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