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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 Neoplasms
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Accession:DOID:9000011 term browser browse the term
Definition:Tumors or cancer of the gallbladder.
Synonyms:exact_synonym: gallbladder neoplasm;   tumor of the gallbladder
 primary_id: MESH:D005706
 alt_id: RDO:0001214
For additional species annotation, visit the Alliance of Genome Resources.

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Gallbladder Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter RGD PMID:15447999 RGD:2317199 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16904648 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374 		JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25025063 NCBI chr14:59,610,939...59,619,786
Ensembl chr14:59,611,434...59,619,783 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 9:75,021,790...76,178,936
Ensembl chr 9:75,021,790...75,528,644 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:SNP: :p.D312N (rs1799793) (human) RGD PMID:21283657 RGD:5688734 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		JBrowse link
G Faslg Fas ligand disease_progression ISO protein:increased expression:gallbladder RGD PMID:15968727 RGD:2317739 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 severity ISO RGD PMID:19259612 RGD:2317784 NCBI chr12:13,655,459...13,668,595
Ensembl chr12:13,656,554...13,668,515 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:SNP:cds:p.I105V (rs1695) (human) RGD PMID:16760134 RGD:2317808 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147 		JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15118756 RGD:2317899 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362 		JBrowse link
G Il1b interleukin 1 beta susceptibility ISO associated with Cholelithiasis;DNA:polymorphism:promoter:-511C>T (human) RGD PMID:18940468 RGD:2317216 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:gallbladder RGD PMID:18798553 RGD:2317263 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18692501 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO protein:increased expression:gallbladder (human) RGD PMID:19956499 RGD:2317582 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression
resistance		 ISO protein:decreased expression:tumor (human)
DNA:transition:exon:EX5-25C>T rs12917 (human)		 RGD PMID:18158568, PMID:18708406 RGD:2317637, RGD:2317636 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190 		JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:gallbladder RGD PMID:18665467 RGD:2325743 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO mRNA,protein:increased expression:gallbladder RGD PMID:10398137 RGD:2324857 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum RGD PMID:17542293 RGD:2325132 NCBI chr 8:18,438,838...18,639,777 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO protein:increased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Muc4 mucin 4, cell surface associated ISO mRNA,protein:increased expression:gallbladder RGD PMID:18397823 RGD:2324921 NCBI chr11:71,242,973...71,285,217
Ensembl chr11:71,243,334...71,284,939 		JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:214,725,482...214,756,653 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:214,608,453...214,630,524
Ensembl chr 1:214,608,704...214,629,938 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:SNP: :rs1495741(human) RGD PMID:20972438 RGD:11056814 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO protein:increased expression:epithelial cell RGD PMID:15100237 RGD:2326070 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358 		JBrowse link
G Nos2 nitric oxide synthase 2 ISO protein:increased expression:gallbladder
associated with Gallbladder Diseases; protein:decreased expression:gllbladder		 RGD PMID:14991947, PMID:14704000 RGD:2325250, RGD:2325251 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Nr1h2 nuclear receptor subfamily 1, group H, member 2 ISO DNA:deletion:exon:exons 5 and 6, estrogen dependent RGD PMID:20679224 RGD:6482195 NCBI chr 1:100,554,577...100,559,896
Ensembl chr 1:100,554,544...100,559,942 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:polymorphism: :p.S326C (human)
DNA:SNPs: :rs2072668, p.S326C (rs1052133)(human)		 RGD PMID:19266243, PMID:20564624 RGD:2317128, RGD:8657150 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 susceptibility ISO DNA:polymorphisms: :-765G>C (rs20417), -1195G>A (rs689466) (human) RGD PMID:19606394, PMID:19455278, PMID:17575102 RGD:2317181, RGD:2317182, RGD:2317188 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility ISO DNA:polymorphism: : -509C>T (human) RGD PMID:18571008 RGD:2317641 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO RGD PMID:10427124 RGD:2325029 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:24997986 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16965602 NCBI chr14:43,133,224...43,143,942
Ensembl chr14:43,133,218...43,143,973 		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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr20:20,576,341...20,591,510
Ensembl chr20:20,576,377...20,591,549 		JBrowse link
gallbladder cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:20082485, PMID:17696941 RGD:2325761, RGD:2325764 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458 		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 chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 susceptibility ISO DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:transition: :6235T>C (human)
DNA:polymorphism: :p.I462V (human)		 RGD PMID:18287863, PMID:18990008 RGD:2317212, RGD:2317211 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627 		JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:SNP: :+61A>G (rs4444903)(human) RGD PMID:8093356, PMID:18571008 RGD:2317646, RGD:2317641 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		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 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779 		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 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678 		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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428 		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 chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658 		JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202 		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 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337 		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 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:26619011 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350 		JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr16:54,240,892...54,386,131
Ensembl chr16:54,291,251...54,386,129 		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 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454 		JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr 1:126,146,489...126,515,359
Ensembl chr 1:126,146,489...126,227,469 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:1565143 PMID:2113594 PMID:8023157 PMID:8062826 PMID:8164043 PMID:8401536 PMID:8633021 PMID:8825920 PMID:9049183 PMID:9290701 PMID:9546439 PMID:9632751 PMID:10616528 PMID:11370630 PMID:11793474 PMID:11896595 PMID:12007217 PMID:12509279 PMID:12726864 PMID:12826609 PMID:15607980 PMID:15607981 PMID:16209708 PMID:16312222 PMID:16401470 PMID:16633321 PMID:16778209 PMID:16861262 PMID:17311302 PMID:17530187 PMID:17606709 PMID:17875924 PMID:18511570 PMID:18555592 PMID:19462533 PMID:19556618 PMID:20128691 PMID:20407015 PMID:20516128 PMID:21343334 PMID:21761402 PMID:22006311 PMID:22114072 PMID:22233476 PMID:22427690 PMID:22540896 PMID:22887876 PMID:23031740 PMID:23259501 PMID:23263379 PMID:23713777 PMID:23792586 PMID:24573247 PMID:25433984 PMID:25584008 PMID:25741868 PMID:25927356 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26497680 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:28279309 PMID:28369373 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29416011 PMID:30297838 PMID:30720243 PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      gastrointestinal system disease 4694
        Digestive System Neoplasms 1923
          Gastrointestinal Neoplasms 1782
            Gallbladder Neoplasms 60
              Rokitansky-Aschoff Sinuses of the Gallbladder 0
              gallbladder benign neoplasm + 0
              gallbladder cancer + 27
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      gastrointestinal system disease 4694
        hepatobiliary disease 2512
          biliary tract disease 443
            gallbladder disease 76
              Gallbladder Neoplasms 60
                Rokitansky-Aschoff Sinuses of the Gallbladder 0
                gallbladder benign neoplasm + 0
                gallbladder cancer + 27
paths to the root