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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 IAGP DNA:SNP::rs11954856(human) RGD PMID:26715268 RGD:151356500 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G APOB apolipoprotein B susceptibility IAGP DNA:SNP: :rs693 (human) RGD PMID:17696941 PMID:20082485 RGD:2325764, RGD:2325761 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073 		JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G AXIN2 axin 2 disease_progression IAGP DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IEP mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G CALR calreticulin exacerbates IEP mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 onset IAGP DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) RGD PMID:18405329 RGD:2317570 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 susceptibility IAGP DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:transition: :6235T>C (human)
DNA:polymorphism: :p.I462V (human) 		RGD PMID:18287863 PMID:18990008 RGD:2317212, RGD:2317211 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G DPYD dihydropyrimidine dehydrogenase disease_progression IEP RGD PMID:16619549 RGD:2317631 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G EGF epidermal growth factor susceptibility IAGP
IEP 		DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:18571008 PMID:8093356 RGD:2317641, RGD:2317646 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G GLI1 GLI family zinc finger 1 disease_progression IAGP DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IEP RGD PMID:26925680 RGD:14700928 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit exacerbates IEP protein:increased expression:gall bladder (human) RGD PMID:26318166 RGD:11528126 NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP DNA:missense mutations, frameshift mutations:cds:multiple (human) RGD PMID:18692501 RGD:6893398 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10435629 PMID:26822237 NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates IAGP DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RBP4 retinol binding protein 4 disease_progression IEP associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) RGD PMID:37273108 RGD:329849105 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 IAGP DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More... NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:polymorphisms: :p.R194W, p.R399Q (human) RGD PMID:19266243 RGD:2317128 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		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 IDA RGD PMID:29043607 RGD:150429712 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G IFITM1 interferon induced transmembrane protein 1 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272 		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 IAGP DNA:polymorphism: :rs4646994 (human) RGD PMID:20438364 RGD:2325207 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G CDK1 cyclin dependent kinase 1 IEP protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G IFITM1 interferon induced transmembrane protein 1 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272 		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 IAGP RGD PMID:7795450 RGD:2317512 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G ACTR3 actin related protein 3 severity IEP Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 severity IEP RGD PMID:21545221 RGD:9684943 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 exacerbates IEP mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G CFL1 cofilin 1 severity IEP Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) RGD PMID:23320827 RGD:11571623 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CLPTM1L CLPTM1 like susceptibility IAGP DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099 		JBrowse link
G GPX3 glutathione peroxidase 3 severity IEP protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G IL10 interleukin 10 susceptibility IAGP associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G MIR155 microRNA 155 disease_progression IEP miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044 		JBrowse link
G MTUS1 microtubule associated scaffold protein 1 disease_progression IEP RGD PMID:31882471 RGD:25330344 NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094 		JBrowse link
G PTCH1 patched 1 disease_progression IEP RGD PMID:22407314 RGD:150523794 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RAC1 Rac family small GTPase 1 exacerbates IEP protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G TERT telomerase reverse transcriptase susceptibility IAGP DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFA transforming growth factor alpha IEP RGD PMID:9542514 RGD:2317470 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TJP1 tight junction protein 1 IEP protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915 		JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:18946757 RGD:2325157 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ameliorates IMP human cell line in a mouse model RGD PMID:30775814 RGD:151665192 NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      gastrointestinal system disease 21328
        Gastrointestinal Neoplasms 5019
          Gallbladder Neoplasms 104
            gallbladder cancer 54
              gallbladder carcinoma + 21
              gallbladder lymphoma 0
              gallbladder melanoma 0
              gallbladder sarcoma + 0
              intrahepatic gall duct cancer 7
              neurofibroma of gallbladder 0
Path 2
Term Annotations click to browse term
  disease 151455
    disease of cellular proliferation 29501
      Neoplasms by Site 27640
        Digestive System Neoplasms 5414
          Gastrointestinal Neoplasms 5019
            gastrointestinal system cancer 3917
              hepatobiliary system cancer 1185
                biliary tract cancer 204
                  gallbladder cancer 54
                    gallbladder carcinoma + 21
                    gallbladder lymphoma 0
                    gallbladder melanoma 0
                    gallbladder sarcoma + 0
                    intrahepatic gall duct cancer 7
                    neurofibroma of gallbladder 0
paths to the root