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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 chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G APOB apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:17696941 PMID:20082485 RGD:2325761 RGD:2325764 NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135 		JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440 		JBrowse link
G AXIN2 axin 2 disease_progression ISO DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052 		JBrowse link
G CALR calreticulin exacerbates ISO mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		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 chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		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 chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923 		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 chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G GLI1 GLI family zinc finger 1 disease_progression ISO DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982 		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 chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		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 chr20:50,651,070...50,661,178
Ensembl chr20:50,650,711...50,658,496 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates ISO DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262 		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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 ISO DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr 4:69,903,393...70,013,168
Ensembl chr 4:69,936,379...70,010,566 		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 chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816 		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 chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275 		JBrowse link
G LOC483397 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr18:25,494,018...25,495,114 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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G CDK1 cyclin dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr 4:12,884,106...12,899,203
Ensembl chr 4:12,883,385...12,899,197 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275 		JBrowse link
G LOC483397 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr18:25,494,018...25,495,114 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 chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479 		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 chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240 		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 chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212 		JBrowse link
G CLPTM1L CLPTM1 like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436 		JBrowse link
G GPX3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010 		JBrowse link
G IL10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G MIR155 microRNA mir-155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr16:40,955,619...41,118,601
Ensembl chr16:40,957,574...41,068,967 		JBrowse link
G PTCH1 patched 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G RAC1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TGFA transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr10:68,915,671...68,957,027 JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574 		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 chr13:3,887,408...4,023,364
Ensembl chr13:3,879,220...4,023,955 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15760
    disease of anatomical entity 15380
      gastrointestinal system disease 6645
        Gastrointestinal Neoplasms 3614
          Gallbladder Neoplasms 76
            gallbladder cancer 44
              gallbladder carcinoma + 20
              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 15760
    disease of cellular proliferation 7491
      Neoplasms by Site 6944
        Digestive System Neoplasms 3727
          Gastrointestinal Neoplasms 3614
            gastrointestinal system cancer 2847
              hepatobiliary system cancer 1056
                biliary tract cancer 173
                  gallbladder cancer 44
                    gallbladder carcinoma + 20
                    gallbladder lymphoma 0
                    gallbladder melanoma 0
                    gallbladder sarcoma + 0
                    intrahepatic gall duct cancer 0
                    neurofibroma of gallbladder 0
paths to the root