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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 disease
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Accession:DOID:0060262 term browser browse the term
Definition:A gastrointestinal system disease that is located_in the gallbladder. (DO)
Synonyms:exact_synonym: Gall Bladder Diseases;   gall bladder disease;   gallbladder diseases
 primary_id: MESH:D005705
 alt_id: RDO:0002740
 xref: EFO:0003832;   ICD10CM:K82.9;   ICD9CM:575.9;   NCI:C34631;   OMIM:PS600803


show annotations for term's descendants           Sort by:
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 chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169 		JBrowse link
cholecystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISS OMIM:600803 MouseDO NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Pot1 protection of telomeres 1 ISO mRNA:decreased expression:gall bladder RGD PMID:28643740 RGD:151356941 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
cholecystolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g2a phospholipase A2 group IIA ISO RGD PMID:9695991 RGD:6482724 NCBI chr 5:151,076,442...151,079,019
Ensembl chr 5:151,076,442...151,079,014 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:promoter: RGD PMID:18392554 RGD:10768868 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
choledocholithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
cholelithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268 		JBrowse link
G Cckar cholecystokinin A receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA:decreased expression:gallbladder,smooth muscle RGD PMID:15908333 RGD:2314139 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:altered expression:liver (human) RGD PMID:12184527 RGD:21408573 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human) RGD PMID:16381022 RGD:2317619 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915 		JBrowse link
G Sqle squalene epoxidase ISO RGD PMID:14684588 RGD:1581398 NCBI chr 7:90,867,973...90,883,623
Ensembl chr 7:90,868,011...90,883,618 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:15062879 RGD:1581417 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Spherocytosis, Hereditary;DNA:insertion:promoter
associated with Alpha-Thalassemia;DNA:repeat:promoter:(TA)
associated with Beta-Thalassemia; DNA:mutation,repeat:cds,promoter; p. G71R,(TA) (human) 		RGD PMID:10498597 PMID:17593033 PMID:18081723 RGD:6482853, RGD:10769341, RGD:10768828 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Cdk1 cyclin-dependent kinase 1 ISO protein:increased expression:gallbladder RGD PMID:15017593 RGD:2722465 NCBI chr20:19,266,226...19,281,417
Ensembl chr20:19,266,248...19,281,408 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169 		JBrowse link
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Apob apolipoprotein B susceptibility ISO DNA:SNP: :rs693 (human) RGD PMID:20082485 PMID:17696941 RGD:2325761, RGD:2325764 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Axin2 axin 2 disease_progression ISO DNA:SNP::s4791171(human) RGD PMID:26715268 RGD:151356500 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO mRNA:increased expression:gallbladder RGD PMID:18497548 RGD:2324871 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Calr calreticulin exacerbates ISO mRNA, protein:increased expression:gall bladder (human) RGD PMID:33591948 RGD:150521682 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		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 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:9065403 PMID:10027390 PMID:10435629 PMID:11351304 PMID:11930117 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		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 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Dpyd dihydropyrimidine dehydrogenase disease_progression ISO RGD PMID:16619549 RGD:2317631 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982 		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 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Gli1 GLI family zinc finger 1 disease_progression ISO DNA:SNP::rs2228226(human) RGD PMID:26715268 RGD:151356500 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:26925680 RGD:14700928 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		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 chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		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 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:6320174 PMID:11745231 PMID:12460918 PMID:15696205 PMID:16051643 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrp1b LDL receptor related protein 1B ameliorates ISO DNA:mutations:multiple: (human) RGD PMID:32898339 RGD:150429787 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		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 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 ISO DNA:CNV, amplification:exon (human) RGD PMID:24508317 RGD:152995522 NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426 		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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Gallbladder cancer ClinVar PMID:1631137 PMID:1978757 PMID:8023157 PMID:8062826 PMID:8099841 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		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 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		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 chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124 		JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 severity ISO RGD PMID:21545221 RGD:9684943 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:gall bladder (human) RGD PMID:28295868 RGD:153297817 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		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 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Clptm1l CLPTM1-like susceptibility ISO DNA:SNP, haplotype: :rs401681(human) RGD PMID:29450669 RGD:150530629 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		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 PMID:28492532 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:26619011 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO protein:decreased expression:gallbladder (human) RGD PMID:24167362 RGD:151665515 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Cholelithiasis RGD PMID:19065724 RGD:2317654 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Mir155 microRNA 155 disease_progression ISO miRNA:increased expression:gall bladder RGD PMID:26885061 RGD:21079444 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mtus1 microtubule associated scaffold protein 1 disease_progression ISO RGD PMID:31882471 RGD:25330344 NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793 		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 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Ptch1 patched 1 disease_progression ISO RGD PMID:22407314 RGD:150523794 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rac1 Rac family small GTPase 1 exacerbates ISO protein:increased expression:gallbladder (human) RGD PMID:21853342 RGD:155230819 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Tert telomerase reverse transcriptase susceptibility ISO DNA:SNP, haplotype: :rs2736100(human) RGD PMID:29450669 RGD:150530629 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfa transforming growth factor alpha ISO RGD PMID:9542514 RGD:2317470 NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894 		JBrowse link
G Tjp1 tight junction protein 1 ISO protein:decreased expression:gallbladder RGD PMID:19184677 RGD:2325030 NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Carcinoma of gallbladder ClinVar PMID:1565143 PMID:8023157 PMID:8062826 PMID:8164043 PMID:8336941 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:18946757 RGD:2325157 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		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 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903 		JBrowse link
Gallbladder Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Gallbladder disease 1 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Thr175Ala(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:14999697 More... RGD:14694981 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
Gallbladder Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Gallbladder disease 4 ClinVar PMID:11893785 PMID:17632509 PMID:21039838 PMID:21274884 PMID:22898925 More... NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Gallbladder disease 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4360855 PMID:11099417 PMID:11452359 PMID:11893785 PMID:12124998 More... NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16904648 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Cckar cholecystokinin A receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25025063 NCBI chr14:57,292,397...57,300,747
Ensembl chr14:57,292,397...57,300,747 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24997986 PMID:24997986 RGD:126781772 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Faslg Fas ligand disease_progression ISO protein:increased expression:gallbladder RGD PMID:15968727 RGD:2317739 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fscn1 fascin actin-bundling protein 1 severity ISO RGD PMID:19259612 RGD:2317784 NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211 		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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:15118756 RGD:2317899 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il4r interleukin 4 receptor ISO mRNA:increased expression:gallbladder RGD PMID:18798553 RGD:2317263 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18692501 NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24997986 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO protein:increased expression:gallbladder (human) RGD PMID:19956499 RGD:2317582 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		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 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:gallbladder RGD PMID:18665467 RGD:2325743 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Muc1 mucin 1, cell surface associated severity ISO mRNA,protein:increased expression:gallbladder RGD PMID:10398137 RGD:2324857 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO protein:increased expression:serum RGD PMID:17542293 RGD:2325132 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO protein:increased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756 		JBrowse link
G Muc4 mucin 4, cell surface associated ISO mRNA,protein:increased expression:gallbladder RGD PMID:18397823 RGD:2324921 NCBI chr11:68,008,245...68,053,242 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475 		JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO protein:decreased expression:gallbladder RGD PMID:15260848 RGD:2324651 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:SNP: :rs1495741(human) RGD PMID:20972438 RGD:11056814 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO protein:increased expression:epithelial cell RGD PMID:15100237 RGD:2326070 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014 		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 chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		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 1:95,041,967...95,047,358
Ensembl chr 1:95,041,967...95,047,377 		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 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility ISO DNA:polymorphism: : -509C>T (human) RGD PMID:18571008 RGD:2317641 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Thbs1 thrombospondin 1 disease_progression ISO RGD PMID:10427124 RGD:2325029 NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:24997986 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16965602 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
Gallstones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632509 NCBI chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Smad4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter:(TA)
associated with Beta-Thalassemia;DNA:repeat:promoter:(TA)		 RGD PMID:15388579 PMID:14555305 RGD:10769331, RGD:10769338 NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465 		JBrowse link
Martinez-Frias Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ClinVar PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
Mitchell-Riley Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Mitchell-Riley syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
opisthorchiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr3 actin related protein 3 ISO RGD PMID:25809205 RGD:11570559 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124 		JBrowse link
G Mir192 microRNA 192 ISO RNA:increased expression:urine RGD PMID:26456596 RGD:41404678 NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      gastrointestinal system disease 7051
        hepatobiliary disease 3066
          biliary tract disease 541
            gallbladder disease 95
              Gallbladder Disease 1 + 1
              Gallbladder Disease 2 0
              Gallbladder Disease 3 0
              Gallbladder Disease 4 2
              Gallbladder Neoplasms + 79
              Left-Sided Gallbladder 0
              Martinez-Frias Syndrome 1
              Mitchell-Riley Syndrome 1
              biliary dyskinesia + 0
              cholecystitis + 2
              cholecystolithiasis + 8
              cholelithiasis + 16
              hydrops of gallbladder 0
              occlusion of gallbladder 0
              opisthorchiasis 2
              strawberry gallbladder 0
paths to the root