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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:Bile Duct Neoplasms
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Accession:DOID:9002936 term browser browse the term
Definition:Tumors or cancer of the BILE DUCTS.
Synonyms:exact_synonym: bile duct neoplasm
 primary_id: MESH:D001650
For additional species annotation, visit the Alliance of Genome Resources.



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Bile Duct Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase ISO mRNA:increased expression:bile duct RGD PMID:16673309 RGD:2325824 NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile duct RGD PMID:17419223 RGD:2317786 NCBI chr 7:5,848,902...5,862,756 JBrowse link
G IL6 interleukin 6 disease_progression ISO protein:increased expression:serum RGD PMID:17617204 RGD:2317166 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15892172 RGD:2317585 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase severity ISO protein:decreased expression:carcinoma of extrahepatic bile duct (human) RGD PMID:11986189 RGD:2317662 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:9869516 RGD:2317706 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
JBrowse link
G MUC16 mucin 16, cell surface associated ISO protein:increased expression:serum,bile RGD PMID:1657243 RGD:2325134 NCBI chr19:8,416,393...8,568,418 JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:16857800 RGD:2324929 NCBI chr 3:193,050,895...193,114,931 JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:8501910 PMID:9851639 RGD:2326076 RGD:2326077 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:15471559 RGD:2324957 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
bile duct cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B susceptibility ISO DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) RGD PMID:18296645 RGD:2317550 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:SNP:intron:rs440446 (human) RGD PMID:18296645 RGD:2317550 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More... NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G LOC100972297 polycystin-1 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More... NCBI chr16:604,927...1,697,831 JBrowse link
G MLH1 mutL homolog 1 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More... NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:26467025 PMID:28492532 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Bile duct cancer ClinVar PMID:25741868 PMID:28492532 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TJP1 tight junction protein 1 ISO protein:decreased expression:bile duct RGD PMID:19184677 RGD:2325030 NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878
JBrowse link
bile duct carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100974383 mesothelin ISO protein:increased expression:bile duct RGD PMID:17276942 RGD:2326059 Ensembl chr16:777,146...783,449 JBrowse link
cholangiocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 susceptibility ISO DNA:polymorphism:exon:c.3972C>T (human) RGD PMID:19451719 RGD:2317508 NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO protein:decreased expression:liver RGD PMID:16292515 RGD:2325640 NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G ALB albumin disease_progression ISO RGD PMID:10776430 PMID:17545000 PMID:20431764 RGD:2325679 RGD:2325680 RGD:2325682 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO protein:increased expression:bile duct RGD PMID:18507031 RGD:2317521 NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
JBrowse link
G ANXA2 annexin A2 disease_progression ISO RGD PMID:20493868 RGD:2325728 NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:hypermethylation:promoter
DNA:loss of heterozygosity
RGD PMID:10212000 PMID:15467712 RGD:2317198 RGD:2317205 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G APOA1 apolipoprotein A1 ISO protein:decreased expression:serum RGD PMID:19486127 RGD:2325756 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G ASPH aspartate beta-hydroxylase ISO RGD PMID:21898484 RGD:6902945 NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 PMID:25231345 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:12692057 RGD:11073239 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A onset ISO protein:decreased expression:liver RGD PMID:15619210 RGD:2317417 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: therapeutic CTD PMID:17341899 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G EPO erythropoietin ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G EPOR erythropoietin receptor ISO mRNA, protein:increased expression:liver RGD PMID:23052842 RGD:10400912 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit no_association
disease_progression
ISO DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
DNA:SNP: :g.148505302C>T (rs887569) (human)
RGD PMID:24179546 RGD:126779604 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G FASLG Fas ligand ISO RGD PMID:11029528 RGD:2317746 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FGF2 fibroblast growth factor 2 ISO protein:increased expression:bile RGD PMID:11478488 RGD:2317765 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
JBrowse link
G FSCN1 fascin actin-bundling protein 1 disease_progression ISO protein:increased expression:bile ducts RGD PMID:19721413 RGD:2317780 NCBI chr 7:5,848,902...5,862,756 JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:24049014 RGD:14700980 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 treatment ISO human cell line in a mouse model
DNA:hypermethylation:promoter
RGD PMID:12805482 PMID:15467712 RGD:14401711 RGD:2317198 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HDAC6 histone deacetylase 6 ISO protein:increased expression:liver: RGD PMID:23370327 RGD:9681560 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642
JBrowse link
G HGF hepatocyte growth factor ISO mRNA, protein:increased expression: :
protein:increased expression:serum
RGD PMID:10827151 PMID:16974053 RGD:2317909 RGD:2317925 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G IL4R interleukin 4 receptor ISO mRNA:increased expression:bile duct RGD PMID:18798553 RGD:2317263 Ensembl chr16:27,642,702...27,737,445 JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum
CTD
RGD
PMID:15011822 PMID:17621267 PMID:28925763 RGD:14975292 RGD:2317167 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KMT2C lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8968066 PMID:22561520 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G KRT7 keratin 7 ISO RGD PMID:18393293 RGD:2317308 NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341
JBrowse link
G LOC100974383 mesothelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:14576474 Ensembl chr16:777,146...783,449 JBrowse link
G LOC100977568 tenascin severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
JBrowse link
G LOC100986481 cytochrome c ISO RGD PMID:19788692 RGD:2317615 NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:393T>C (human)
CTD
RGD
PMID:17356712 PMID:22561520 RGD:1601377 NCBI chr20:55,190,607...55,262,245 JBrowse link
G MDM2 MDM2 proto-oncogene disease_progression ISO protein:increased expression:intrahepatic bile duct (human) RGD PMID:15619210 RGD:2317417 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)
RGD PMID:14656942 PMID:16818635 RGD:2317578 RGD:2317601 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:17550320 RGD:2317632 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
JBrowse link
G MKI67 marker of proliferation Ki-67 disease_progression ISO RGD PMID:12903495 RGD:2317705 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
JBrowse link
G MMP2 matrix metallopeptidase 2 disease_progression ISO protein:increased expression:bile duct RGD PMID:15213623 PMID:19629755 RGD:2324667 RGD:2325769 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:bile duct
mRNA:increased expression:bile duct
RGD PMID:15213623 PMID:16463672 RGD:2324667 RGD:2325856 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism (human) RGD PMID:17201138 RGD:2317119 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO mRNA:increased expression:bile duct
protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:
RGD PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217 RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G MUC16 mucin 16, cell surface associated ISO associated with Opisthorchiasis;protein:increased expression:serum RGD PMID:1653472 RGD:2325142 NCBI chr19:8,416,393...8,568,418 JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
JBrowse link
G MUC3A mucin 3A, cell surface associated ISO mRNA:decreased expression:bile duct RGD PMID:11680592 RGD:2324948 NCBI chr 7:92,974,006...92,993,990 JBrowse link
G MUC4 mucin 4, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:14752841 PMID:19082442 RGD:2303602 RGD:2324944 NCBI chr 3:193,050,895...193,114,931 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming disease_progression ISO mRNA:increased expression:bile duct
protein:increased expression:serum
RGD PMID:11680592 PMID:14508831 RGD:2324948 RGD:2324990 NCBI chr11:1,191,223...1,234,373 JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO protein:increased expression: : RGD PMID:10209489 RGD:2325167 NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927
JBrowse link
G NAT2 N-acetyltransferase 2 ISO DNA:polymorphisms (human) RGD PMID:15901993 RGD:2317172 NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO associated with hepatitis RGD PMID:12031086 RGD:2326079 NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16094703 PMID:16818635 RGD:2325280 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:cholangiocyte RGD PMID:15887117 RGD:2325330 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G NR1H4 nuclear receptor subfamily 1 group H member 4 disease_progression ISO mRNA:decreased expression:liver (rat) RGD PMID:24255171 RGD:15090822 NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase disease_progression ISO DNA:loss of heterozygosity (human) RGD PMID:11260864 PMID:11866974 RGD:2317134 RGD:2317136 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
JBrowse link
G OSBP2 oxysterol binding protein 2 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr22:11,719,017...11,933,841
Ensembl chr22:29,520,479...29,733,061
JBrowse link
G OSBPL7 oxysterol binding protein like 7 ISO mRNA:increased expression:blood RGD PMID:21763455 RGD:41404644 NCBI chr17:9,715,464...9,729,950
Ensembl chr17:9,897,768...9,912,065
JBrowse link
G PAWR pro-apoptotic WT1 regulator ISO mRNA,protein:decreased expression:cholangiocyte: RGD PMID:20724592 RGD:9835357 NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796
JBrowse link
G PBRM1 polybromo 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24185509 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146
JBrowse link
G PEG3 paternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr19:53,830,193...53,860,760
Ensembl chr19:62,588,511...62,654,661
JBrowse link
G PPIA peptidylprolyl isomerase A ameliorates ISO human cell line and construct in a mouse model RGD PMID:21871105 RGD:150429623 NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258846 NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253
JBrowse link
G PRSS2 serine protease 2 ISO protein:increased expression:serum RGD PMID:8621252 RGD:2324908 NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:23376645 PMID:27022031 RGD:12802341 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:bile duct
CTD
RGD
PMID:16818635 PMID:19621664 RGD:2317180 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G RNF43 ring finger protein 43 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr17:52,420,516...52,492,813 JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO protein:decreased expression:bile duct RGD PMID:19827872 RGD:2324955 NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17408651 NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480
JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561520 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
G SOX17 SRY-box transcription factor 17 severity ISO RGD PMID:20816680 RGD:4889598 NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808
JBrowse link
G TGFB1 transforming growth factor beta 1 disease_progression ISO protein:increased expression:pancreas RGD PMID:12632524 PMID:16083599 RGD:1299231 RGD:2325020 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO mRNA:increased expression:bile duct RGD PMID:12632524 RGD:1299231 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
JBrowse link
G THBS1 thrombospondin 1 disease_progression ISO DNA:hypermethylation (human) RGD PMID:11927969 PMID:12213730 PMID:16465407 RGD:2325024 RGD:2325026 RGD:2325027 NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16818635 PMID:22561520 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
common bile duct neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOB apolipoprotein B ISO protein:increased expression:serum RGD PMID:18076041 RGD:2325763 NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129
JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO mRNA, protein:increased expression: : RGD PMID:15136764 RGD:2317789 NCBI chr 7:5,848,902...5,862,756 JBrowse link
G LOC100974383 mesothelin ISO protein:increased expression:common bile duct, ampulla of vater RGD PMID:16416732 RGD:2326064 Ensembl chr16:777,146...783,449 JBrowse link
G MTAP methylthioadenosine phosphorylase ISO DNA, protein:deletion, decreased expression:common bile duct: RGD PMID:15662124 RGD:2317954 NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
JBrowse link
G MUC1 mucin 1, cell surface associated disease_progression ISO protein:increased expression:bile duct RGD PMID:8766528 RGD:2324856 NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
JBrowse link
G MUC4 mucin 4, cell surface associated ISO protein:increased expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr 3:193,050,895...193,114,931 JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO protein:altered expression:pancreas RGD PMID:8143972 RGD:2324890 NCBI chr11:1,191,223...1,234,373 JBrowse link
G TYMP thymidine phosphorylase disease_progression ISO RGD PMID:10760693 RGD:2325158 NCBI chr22:30,772,088...30,776,618 JBrowse link
extrahepatic bile duct adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G PBRM1 polybromo 1 disease_progression ISO RGD PMID:25536104 RGD:150340631 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146
JBrowse link
intrahepatic cholangiocarcinoma 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 ClinVar Annotator: match by term: Intrahepatic Cholangiocarcinoma ClinVar PMID:24728327 PMID:25479140 PMID:25741868 PMID:26530882 PMID:28492532 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression
exacerbates
ISO mRNA,protein:decreased expression:intrahepatic bile duct (human) RGD PMID:27433094 PMID:30849962 PMID:31665232 RGD:126775257 RGD:126781775 RGD:14974231 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G BAP1 BRCA1 associated protein 1 disease_progression ISO RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:30849962 RGD:14974231 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase severity ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:24139215 RGD:14398746 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G FAS Fas cell surface death receptor disease_progression ISO RGD PMID:11003620 RGD:14700701 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FASLG Fas ligand severity ISO RGD PMID:11003620 RGD:14700701 NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FOXP3 forkhead box P3 ISO DNA:hypomethylation:liver RGD PMID:24291052 RGD:38599002 NCBI chr  X:41,550,462...41,567,492
Ensembl chr  X:49,402,652...49,417,029
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 no_association ISO DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human) RGD PMID:26245674 RGD:14974229 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 disease_progression ISO DNA:mutations: :
mRNA:decreased expression:liver (mouse)
RGD PMID:22824796 PMID:32463951 RGD:149735894 RGD:14985256 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations:: RGD PMID:24139215 RGD:14398746 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LCN2 lipocalin 2 treatment ISO Protein:increased expression:bile duct RGD PMID:24939880 RGD:126790491 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
JBrowse link
G LRP1B LDL receptor related protein 1B exacerbates ISO DNA:mutations:multiple: (human) RGD PMID:33014052 RGD:150429786 NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243
JBrowse link
G PBRM1 polybromo 1 ISO RGD PMID:27864835 RGD:150340628 NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146
JBrowse link
G SMAD4 SMAD family member 4 disease_progression ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 PMID:23981608 RGD:18936999 RGD:21066336 NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
JBrowse link
Klatskin's tumor 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 ClinVar Annotator: match by term: Klatskin tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
JBrowse link
G ARID1A AT-rich interaction domain 1A disease_progression ISO DNA:deletions RGD PMID:33387086 RGD:126848756 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
JBrowse link
G GATA6 GATA binding protein 6 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr18:15,411,764...15,444,402 JBrowse link
G KMT2C lysine methyltransferase 2C onset ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
JBrowse link
G KRAS KRAS proto-oncogene, GTPase disease_progression ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 sexual_dimorphism ISO DNA:mutations RGD PMID:33387086 RGD:126848756 NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13864
    disease of anatomical entity 13524
      gastrointestinal system disease 5404
        biliary tract disease 427
          biliary tract benign neoplasm 99
            Bile Duct Neoplasms 96
              bile duct adenoma + 1
              bile duct cancer + 94
              biliary papillomatosis + 0
              common bile duct neoplasm + 8
              extrahepatic bile duct leiomyoma 0
              extrahepatic bile duct lipoma 0
Path 2
Term Annotations click to browse term
  disease 13864
    disease of anatomical entity 13524
      gastrointestinal system disease 5404
        Gastrointestinal Diseases 3957
          Gastrointestinal Neoplasms 3195
            gastrointestinal system benign neoplasm 154
              hepatobiliary benign neoplasm 122
                biliary tract benign neoplasm 99
                  Bile Duct Neoplasms 96
                    bile duct adenoma + 1
                    bile duct cancer + 94
                    biliary papillomatosis + 0
                    common bile duct neoplasm + 8
                    extrahepatic bile duct leiomyoma 0
                    extrahepatic bile duct lipoma 0
paths to the root