Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:0060262 term browser browse the term
Definition:Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases.
Synonyms:exact_synonym: Gall Bladder Diseases;   gall bladder disease;   gallbladder diseases
 primary_id: MESH:D005705
 alt_id: RDO:0002740
 xref: ICD10CM:K82.9;   ICD9CM:575.9;   NCI:C34631;   OMIM:PS600803
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
gallbladder disease 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 ISS OMIM:609918 | OMIM:609919 | OMIM:611465 MouseDO NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
acalculous 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 ISO ClinVar Annotator: match by term: Acalculous cholecystitis ClinVar PMID:17726488, PMID:18482588, PMID:19584064, PMID:23533021, PMID:25741868, PMID:25807286 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
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 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Aspg asparaginase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12902918 NCBI chr 6:136,682,279...136,701,673
Ensembl chr 6:136,682,126...136,701,628
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 chr14:59,610,939...59,619,786
Ensembl chr14:59,611,434...59,619,783
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:altered expression:liver (human) RGD PMID:12184527 RGD:21408573 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Soat2 sterol O-acyltransferase 2 susceptibility ISO RGD PMID:11100118 RGD:1556516 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
JBrowse link
G Sqle squalene epoxidase ISO RGD PMID:14684588 RGD:1581398 NCBI chr 7:99,609,929...99,624,803
Ensembl chr 7:99,609,191...99,624,732
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:15062879 RGD:1581417 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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: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 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
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
DNA:missense mutation:cds:p.Thr175Ala(human)
OMIM
ClinVar
PMID:8666348, PMID:9419367, PMID:11313316, PMID:12891548, PMID:15077010, PMID:16763017, PMID:16890614, PMID:17726488, PMID:18482588, PMID:19018976, PMID:19490418, PMID:19584064, PMID:19840255, PMID:21119540, PMID:22331132, PMID:23533021, PMID:24033266, PMID:24381502, PMID:24594635, PMID:24806754, PMID:24914347, PMID:25741868, PMID:25807286, PMID:26153658, PMID:26474921, PMID:26699824, PMID:28776642, PMID:32581362, PMID:24914347 RGD:14694981 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
Gallbladder Disease 4 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 ClinVar Annotator: match by term: Gallbladder disease 4 OMIM
ClinVar
PMID:11893785, PMID:17632509, PMID:21039838, PMID:21274884, PMID:22898925, PMID:28492532 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
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 chr18:27,011,710...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
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 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
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 OMIM:615710
ClinVar Annotator: match by term: Mitchell-Riley syndrome
OMIM
ClinVar
PMID:15592663, PMID:18414213, PMID:18512226, PMID:19887127, PMID:20148032, PMID:25741868, PMID:26264437, PMID:27523286, PMID:28492532 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
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 chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        biliary tract disease 437
          gallbladder disease 74
            Gallbladder Disease 1 + 1
            Gallbladder Disease 2 0
            Gallbladder Disease 3 0
            Gallbladder Disease 4 1
            Gallbladder Neoplasms + 60
            Left-Sided Gallbladder 0
            Martinez-Frias Syndrome 0
            Mitchell-Riley Syndrome 1
            biliary dyskinesia + 0
            cholecystitis + 1
            cholecystolithiasis + 8
            cholelithiasis + 16
            hydrops of gallbladder 0
            occlusion of gallbladder 0
            opisthorchiasis 1
            strawberry gallbladder 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        hepatobiliary disease 2484
          biliary tract disease 437
            gallbladder disease 74
              Gallbladder Disease 1 + 1
              Gallbladder Disease 2 0
              Gallbladder Disease 3 0
              Gallbladder Disease 4 1
              Gallbladder Neoplasms + 60
              Left-Sided Gallbladder 0
              Martinez-Frias Syndrome 0
              Mitchell-Riley Syndrome 1
              biliary dyskinesia + 0
              cholecystitis + 1
              cholecystolithiasis + 8
              cholelithiasis + 16
              hydrops of gallbladder 0
              occlusion of gallbladder 0
              opisthorchiasis 1
              strawberry gallbladder 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.