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
Accession: DOID:9002936
browse the term
Definition: Tumors or cancer of the BILE DUCTS.
Synonyms: exact_synonym: bile duct neoplasm
primary_id: MESH:D001650
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ASPH
aspartate beta-hydroxylase
ISO
mRNA:increased expression:bile duct
RGD
PMID:16673309
RGD:2325824
NCBI chr29:11,812,275...12,022,755
Ensembl chr29:11,814,554...12,022,680
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EGFR
epidermal growth factor receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17341899
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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FSCN1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:17419223
RGD:2317786
NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808
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IL6
interleukin 6
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:17617204
RGD:2317166
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15892172
RGD:2317585
NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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MGMT
O-6-methylguanine-DNA methyltransferase
severity
ISO
protein:decreased expression:carcinoma of extrahepatic bile duct (human)
RGD
PMID:11986189
RGD:2317662
NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
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MKI67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:9869516
RGD:2317706
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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MUC16
mucin 16, cell surface associated
ISO
protein:increased expression:serum,bile
RGD
PMID:1657243
RGD:2325134
NCBI chr20:51,790,036...51,876,801
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MUC4
mucin 4, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:16857800
RGD:2324929
NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802
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NCAM1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:8501910 PMID:9851639
RGD:2326076 RGD:2326077
NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
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RUNX3
RUNX family transcription factor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:15471559
RGD:2324957
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24131658
RGD:151361287
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:25704541
RGD:11521169
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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APOB
apolipoprotein B
susceptibility
ISO
DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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APOE
apolipoprotein E
susceptibility
ISO
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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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 PMID:28492532 More...
NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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MIR31
microRNA mir-31
exacerbates
ISO
RNA:increased expression:bile duct (human)
RGD
PMID:29860474
RGD:152998990
NCBI chr11:40,904,438...40,904,496
Ensembl chr11:40,904,437...40,904,503
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MLH1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:33357406
NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823
NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
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PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 PMID:27782177 More...
NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
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POLD1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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TJP1
tight junction protein 1
ISO
protein:decreased expression:bile duct
RGD
PMID:19184677
RGD:2325030
NCBI chr 3:38,997,122...39,076,617
Ensembl chr 3:38,997,076...39,241,574
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LOC611363
mesothelin
ISO
protein:increased expression:bile duct
RGD
PMID:17276942
RGD:2326059
NCBI chr 6:39,827,985...39,834,945
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
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ABCC2
ATP binding cassette subfamily C member 2
susceptibility
ISO
DNA:polymorphism:exon:c.3972C>T (human)
RGD
PMID:19451719
RGD:2317508
NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
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ADRB2
adrenoceptor beta 2
ISO
protein:decreased expression:liver
RGD
PMID:16292515
RGD:2325640
NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
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ALB
albumin
disease_progression
ISO
RGD
PMID:10776430 PMID:17545000 PMID:20431764
RGD:2325679 RGD:2325680 RGD:2325682
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
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ALOX5
arachidonate 5-lipoxygenase
ISO
protein:increased expression:bile duct
RGD
PMID:18507031
RGD:2317521
NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
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ANXA2
annexin A2
disease_progression
ISO
RGD
PMID:20493868
RGD:2325728
NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281
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APC
APC regulator of WNT signaling pathway
ISO
DNA:loss of heterozygosity DNA:hypermethylation:promoter
RGD
PMID:10212000 PMID:15467712
RGD:2317198 RGD:2317205
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
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APOA1
apolipoprotein A1
ISO
protein:decreased expression:serum
RGD
PMID:19486127
RGD:2325756
NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943
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ARID1A
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
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ASPH
aspartate beta-hydroxylase
ISO
RGD
PMID:21898484
RGD:6902945
NCBI chr29:11,812,275...12,022,755
Ensembl chr29:11,814,554...12,022,680
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ATG101
autophagy related 101
disease_progression
ISO
RGD
PMID:35592424
RGD:153350091
NCBI chr27:2,931,595...2,934,914
Ensembl chr27:2,931,893...2,935,123
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B9D2
B9 domain containing 2
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:12632524 PMID:16083599
RGD:1299231 RGD:2325020
NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
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BAP1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:25231345
NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
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BIRC6
baculoviral IAP repeat containing 6
ameliorates
ISO
mRNA:increased expression:bile duct (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr17:25,618,262...25,847,920
Ensembl chr17:25,617,892...25,847,202
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:12692057
RGD:11073239
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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CDKN2A
cyclin dependent kinase inhibitor 2A
onset
ISO
protein:decreased expression:liver
RGD
PMID:15619210
RGD:2317417
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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CXCL8
C-X-C motif chemokine ligand 8
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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CYCS
cytochrome c, somatic
ISO
RGD
PMID:19788692
RGD:2317615
NCBI chr14:38,579,446...38,581,983
Ensembl chr14:38,579,446...38,581,983
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ISO
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)
RGD
PMID:23375797
RGD:151361187
NCBI chr24:39,861,018...39,878,161
Ensembl chr24:39,862,355...39,878,216
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EGF
epidermal growth factor
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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EPO
erythropoietin
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
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EPOR
erythropoietin receptor
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
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FASLG
Fas ligand
ISO
RGD
PMID:11029528
RGD:2317746
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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FGF2
fibroblast growth factor 2
ISO
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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FGFR2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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FSCN1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile ducts
RGD
PMID:19721413
RGD:2317780
NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808
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GNAS
GNAS complex locus
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:393T>C (human)
CTD RGD
PMID:17356712 PMID:22561520
RGD:1601377
NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
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GSTP1
glutathione S-transferase pi 1
treatment
ISO
DNA:hypermethylation:promoter human cell line in a mouse model
RGD
PMID:12805482 PMID:15467712
RGD:14401711 RGD:2317198
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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HDAC6
histone deacetylase 6
ISO
protein:increased expression:liver:
RGD
PMID:23370327
RGD:9681560
NCBI chr X:42,004,268...42,024,726
Ensembl chr X:42,004,591...42,024,427
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HGF
hepatocyte growth factor
ISO
protein:increased expression:serum mRNA, protein:increased expression: :
RGD
PMID:10827151 PMID:16974053
RGD:2317909 RGD:2317925
NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
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IL10
interleukin 10
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL19
interleukin 19
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
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IL1B
interleukin 1 beta
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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IL1R2
interleukin 1 receptor type 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113
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IL4R
interleukin 4 receptor
ISO
mRNA:increased expression:bile duct
RGD
PMID:18798553
RGD:2317263
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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IL6
interleukin 6
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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INS
insulin
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
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KCND2
potassium voltage-gated channel subfamily D member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr14:58,441,274...58,915,512
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KIT
KIT proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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KMT2C
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
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KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8968066 PMID:22561520
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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KRT7
keratin 7
ISO
RGD
PMID:18393293
RGD:2317308
NCBI chr27:2,812,709...2,827,451
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LOC100855904
mucin-6
ISO
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr18:45,359,412...45,376,678
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LOC403581
peptidylprolyl isomerase A (cyclophilin A) pseudogene
ameliorates
ISO
human cell line and construct in a mouse model
RGD
PMID:21871105
RGD:150429623
NCBI chr 7:80,937,433...80,938,175
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LOC611363
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr 6:39,827,985...39,834,945
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MDM2
MDM2 proto-oncogene
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15619210
RGD:2317417
NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
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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 chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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MFSD4A
major facilitator superfamily domain containing 4A
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr38:2,037,365...2,066,822
Ensembl chr38:2,037,026...2,064,696
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:17550320
RGD:2317632
NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
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MIR155
microRNA mir-155
ISO
miRNA:increased expression:serum
RGD
PMID:30653586
RGD:21081530
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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MIR192
microRNA mir-192
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193
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MIR21
microRNA mir-21
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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MIR23B
microRNA mir-23b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 1:71,678,353...71,678,406
Ensembl chr 1:71,678,346...71,678,416
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MIR494
microRNA mir-494
exacerbates severity
ISO
RGD
PMID:30314946
RGD:156420141
NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465
G
MKI67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:12903495
RGD:2317705
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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MMP2
matrix metallopeptidase 2
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:15213623 PMID:19629755
RGD:2324667 RGD:2325769
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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MMP9
matrix metallopeptidase 9
ISO
mRNA:increased expression:bile duct protein:increased expression:bile duct
RGD
PMID:15213623 PMID:16463672
RGD:2324667 RGD:2325856
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:17201138
RGD:2317119
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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MUC1
mucin 1, cell surface associated
disease_progression
ISO
protein:increased expression:serum protein:increased secretion:bile mRNA:increased expression:bile duct 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 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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MUC16
mucin 16, cell surface associated
ISO
associated with Opisthorchiasis;protein:increased expression:serum
RGD
PMID:1653472
RGD:2325142
NCBI chr20:51,790,036...51,876,801
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr18:45,416,347...45,438,226
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 chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
ISO
protein:increased expression:serum mRNA:increased expression:bile duct
RGD
PMID:11680592 PMID:14508831
RGD:2324948 RGD:2324990
NCBI chr18:45,471,232...45,498,961
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr18:45,517,479...45,545,765
Ensembl chr18:45,517,474...45,545,184
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NCAM1
neural cell adhesion molecule 1
ISO
associated with hepatitis
RGD
PMID:12031086
RGD:2326079
NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
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NOS2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:bile duct
CTD RGD
PMID:16094703 PMID:16818635
RGD:2325280
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
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NOTCH1
notch receptor 1
ISO
protein:increased expression:cholangiocyte
RGD
PMID:15887117
RGD:2325330
NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
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NR1H4
nuclear receptor subfamily 1 group H member 4
disease_progression
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:24255171
RGD:15090822
NCBI chr15:39,497,313...39,608,120
Ensembl chr15:39,536,290...39,608,116
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OGG1
8-oxoguanine DNA glycosylase
disease_progression
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11260864 PMID:11866974
RGD:2317134 RGD:2317136
NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
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OSBP2
oxysterol binding protein 2
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr26:23,742,191...23,938,021
Ensembl chr26:23,739,648...23,936,562
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OSBPL7
oxysterol binding protein like 7
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr 9:24,139,641...24,156,692
Ensembl chr 9:24,139,630...24,154,924
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PANX2
pannexin 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr10:17,052,972...17,059,756
Ensembl chr10:17,052,956...17,055,880
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PAWR
pro-apoptotic WT1 regulator
ISO
mRNA,protein:decreased expression:cholangiocyte:
RGD
PMID:20724592
RGD:9835357
NCBI chr15:22,114,014...22,159,287
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PBRM1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203
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PEG3
paternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 1:101,091,161...101,123,552
Ensembl chr 1:101,098,669...101,121,032
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PES1
pescadillo ribosomal biogenesis factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34845814
NCBI chr26:23,655,994...23,672,707
Ensembl chr26:23,656,404...23,672,641
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PIR
pirin
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr X:11,627,337...11,733,489
Ensembl chr X:11,627,337...11,733,489
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
sexual_dimorphism
ISO
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:28000796
RGD:151665188
NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr20:48,416,730...48,425,237
Ensembl chr20:48,409,045...48,426,669
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PRKACB
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 6:63,615,445...63,729,386
Ensembl chr 6:63,618,323...63,730,146
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PRRG4
proline rich and Gla domain 4
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr18:34,755,824...34,772,516
Ensembl chr18:34,756,080...34,772,917
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PRSS56
serine protease 56
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625
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PTEN
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23376645 PMID:27022031
RGD:12802341
NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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RASSF8
Ras association domain family member 8
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr27:21,512,110...21,569,475
Ensembl chr27:21,515,795...21,535,929
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RNF39
ring finger protein 39
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr35:26,292,218...26,296,980
Ensembl chr35:26,292,781...26,297,083
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RNF43
ring finger protein 43
exacerbates
ISO
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human)
CTD RGD
PMID:22561520
RGD:151361227
NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
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ROBO2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392
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RUNX3
RUNX family transcription factor 3
ISO
protein:decreased expression:bile duct
RGD
PMID:19827872
RGD:2324955
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SLC4A4
solute carrier family 4 member 4
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728
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SLC5A5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408651
NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209
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SLC7A5
solute carrier family 7 member 5
treatment disease_progression
ISO
RGD
PMID:24131658 PMID:25475870 PMID:28347255
RGD:151361214 RGD:151361287 RGD:151361294
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
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SMAD4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
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SOCS3
suppressor of cytokine signaling 3
severity
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr 9:2,859,267...2,859,944
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SOX17
SRY-box transcription factor 17
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124
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SOX2
SRY-box transcription factor 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr34:14,853,000...14,855,153
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TGFBR2
transforming growth factor beta receptor 2
ISO
mRNA:increased expression:bile duct
RGD
PMID:12632524
RGD:1299231
NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636
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THBS1
thrombospondin 1
disease_progression
ISO
DNA:hypermethylation (human)
RGD
PMID:11927969 PMID:12213730 PMID:16465407
RGD:2325024 RGD:2325026 RGD:2325027
NCBI chr30:6,770,212...6,786,875
Ensembl chr30:6,769,470...6,784,915
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TNC
tenascin C
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
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TNFAIP3
TNF alpha induced protein 3
severity
ISO
protein:increased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635 PMID:22561520
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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TTR
transthyretin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:18275060
RGD:151660506
NCBI chr 7:57,940,354...57,947,084
Ensembl chr 7:57,914,381...57,947,058
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VEGFA
vascular endothelial growth factor A
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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WDHD1
WD repeat and HMG-box DNA binding protein 1
ameliorates
ISO
RGD
PMID:30314946
RGD:156420141
NCBI chr 8:30,820,488...30,872,515
Ensembl chr 8:30,821,096...30,872,512
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WNT9A
Wnt family member 9A
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr14:946,843...959,289
Ensembl chr14:953,244...959,295
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APOB
apolipoprotein B
ISO
protein:increased expression:serum
RGD
PMID:18076041
RGD:2325763
NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135
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FSCN1
fascin actin-bundling protein 1
ISO
mRNA, protein:increased expression: :
RGD
PMID:15136764
RGD:2317789
NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808
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LOC611363
mesothelin
ISO
protein:increased expression:common bile duct, ampulla of vater
RGD
PMID:16416732
RGD:2326064
NCBI chr 6:39,827,985...39,834,945
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MTAP
methylthioadenosine phosphorylase
ISO
DNA, protein:deletion, decreased expression:common bile duct:
RGD
PMID:15662124
RGD:2317954
NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
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MUC1
mucin 1, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:8766528
RGD:2324856
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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MUC4
mucin 4, cell surface associated
ISO
protein:increased expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:altered expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr18:45,471,232...45,498,961
G
BAP1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
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PBRM1
polybromo 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203
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RAC1
Rac family small GTPase 1
ISO
protein:increased expression:mucosa (human)
RGD
PMID:21537609
RGD:153350126
NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr 5:65,313,105...65,343,858
Ensembl chr 5:65,313,105...65,343,858
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PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868
NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
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POLD1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
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XPO1
exportin 1
disease_progression
ISO
protein:increased expression:extrahepatic bile duct (human)
RGD
PMID:27279267
RGD:151665800
NCBI chr10:61,541,647...61,588,397
Ensembl chr10:61,542,211...61,585,054
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APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma
ClinVar
PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28135048 PMID:28195569 PMID:28492532 PMID:32390703 More...
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
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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 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
G
BAP1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:27864835
RGD:150340628
NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
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BECN1
beclin 1
disease_progression
ISO
RGD
PMID:30849962
RGD:14974231
NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
severity
ISO
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:24139215
RGD:14398746
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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FAS
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FASLG
Fas ligand
severity
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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FOXP3
forkhead box P3
ISO
DNA:hypomethylation:liver
RGD
PMID:24291052
RGD:38599002
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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HSP90AA1
heat shock protein 90 alpha family class A member 1
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243
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HSP90AB1
heat shock protein 90 alpha family class B member 1
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr12:12,658,415...12,664,945
Ensembl chr12:12,660,008...12,664,940
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
no_association
ISO
DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)
RGD
PMID:26245674
RGD:14974229
NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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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 chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
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KDM5C
lysine demethylase 5C
exacerbates
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:32714863
RGD:151361175
NCBI chr X:44,921,271...44,953,338
Ensembl chr X:44,921,816...44,952,616
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KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations::
RGD MouseDO
PMID:24139215
RGD:14398746
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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LCN2
lipocalin 2
treatment
ISO
Protein:increased expression:bile duct
RGD
PMID:24939880
RGD:126790491
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
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LRP1B
LDL receptor related protein 1B
exacerbates
ISO
DNA:mutations:multiple: (human)
RGD
PMID:33014052
RGD:150429786
NCBI chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262
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MAGI1
membrane associated guanylate kinase, WW and PDZ domain containing 1
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr20:25,314,597...25,952,256
Ensembl chr20:25,314,923...25,949,921
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MIR152
microRNA mir-152
ISO
miRNA:decreased expression:intrahepatic bile duct
RGD
PMID:28921383
RGD:19165148
NCBI chr 9:24,335,161...24,335,219
Ensembl chr 9:24,335,146...24,335,225
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MIR200B
microRNA mir-200b
ISO
RNA:increased expression:liver
RGD
PMID:27685844
RGD:14928335
NCBI chr 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479
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MIR21
microRNA mir-21
ISO
RNA:increased expression:liver,plasma
RGD
PMID:27685844
RGD:14928335
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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MIR221
microRNA mir-221
severity
ISO
RGD
PMID:27685844
RGD:14928335
NCBI chr X:39,523,890...39,523,951
Ensembl chr X:39,523,885...39,523,954
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PBRM1
polybromo 1
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:27864835 PMID:30377796
RGD:150340628 RGD:152998946
NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203
G
PTEN
phosphatase and tensin homolog
disease_progression
ISO
protein:decreased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
G
RNF43
ring finger protein 43
exacerbates
ISO
mRNA, protein:decreased expression:liver, bile duct epithelium (human)
RGD
PMID:26980022
RGD:151361125
NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
G
RUNX1
RUNX family transcription factor 1
ISO
mRNA:increased expression:intrahepatic bile duct
RGD
PMID:31015363
RGD:126775143
NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
G
S100B
S100 calcium binding protein B
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
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 chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
G
TEP1
telomerase associated protein 1
ISO
mRNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr15:17,716,887...17,748,485
Ensembl chr15:17,716,887...17,764,356
G
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
G
ARID1A
AT-rich interaction domain 1A
disease_progression
ISO
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
G
GATA6
GATA binding protein 6
sexual_dimorphism
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 7:65,932,114...65,962,574
G
KMT2C
lysine methyltransferase 2C
onset
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
G
KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
G
PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
sexual_dimorphism
ISO
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:33387086
RGD:126848756
NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170
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