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.
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24131658
RGD:151361287
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Braf
B-Raf proto-oncogene, serine/threonine kinase
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:25704541
RGD:11521169
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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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 chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Mir31
microRNA 31
exacerbates
ISO
RNA:increased expression:bile duct (human)
RGD
PMID:29860474
RGD:152998990
NCBI chr 5:103,599,038...103,599,143
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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:25157968 PMID:25741868 PMID:25823662 PMID:28492532 More...
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:33357406
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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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 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tjp1
tight junction protein 1
ISO
protein:decreased expression:bile duct
RGD
PMID:19184677
RGD:2325030
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Msln
mesothelin
ISO
protein:increased expression:bile duct
RGD
PMID:17276942
RGD:2326059
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Asph
aspartate-beta-hydroxylase
ISO
mRNA:increased expression:bile duct
RGD
PMID:16673309
RGD:2325824
NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17341899
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Fscn1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:17419223
RGD:2317786
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Il6
interleukin 6
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:17617204
RGD:2317166
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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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 chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:9869516
RGD:2317706
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Muc16
mucin 16, cell surface associated
ISO
protein:increased expression:serum,bile
RGD
PMID:1657243
RGD:2325134
NCBI chr 8:16,164,531...16,323,126
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Muc4
mucin 4, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:16857800
RGD:2324929
NCBI chr11:68,008,245...68,053,242
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Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:8501910 PMID:9851639
RGD:2326077 , RGD:2326076
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Runx3
RUNX family transcription factor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:15471559
RGD:2324957
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Alb
albumin
disease_progression
ISO
RGD
PMID:20358256
RGD:2325676
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Ctps1
CTP synthase 1
ISO
mRNA:increased expression:biliary tract neoplasm (human)
RGD
PMID:12819026
RGD:2317903
NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180
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Elf3
E74 like ETS transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481
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Faslg
Fas ligand
ISO
protein:decreased expression:serum associated with Biliary Tract Disease;protein:decreased expression:serum
RGD
PMID:15138553 PMID:15287856
RGD:2317743 , RGD:2317742
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Hgf
hepatocyte growth factor
ISO
mRNA:increased expression: :
RGD
PMID:12819026
RGD:2317903
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Il4
interleukin 4
ISO
RGD
PMID:18798553
RGD:2317263
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
RGD
PMID:18159174
RGD:2317165
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Mdm2
MDM2 proto-oncogene
ISO
protein:increased expression:biliary epithelium (human)
RGD
PMID:16505435
RGD:2317415
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mtap
methylthioadenosine phosphorylase
ISO
RGD
PMID:16373701
RGD:2317953
NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
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Muc1
mucin 1, cell surface associated
ISO
RGD
PMID:19129927
RGD:2317987
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc4
mucin 4, cell surface associated
ISO
protein:increased expression:bile,biliary tract
RGD
PMID:18475301
RGD:2324916
NCBI chr11:68,008,245...68,053,242
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:18475301
RGD:2324916
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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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 chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Adrb2
adrenoceptor beta 2
ISO
protein:decreased expression:liver
RGD
PMID:16292515
RGD:2325640
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Alb
albumin
disease_progression
ISO
RGD
PMID:10776430 PMID:17545000 PMID:20431764
RGD:2325682 , RGD:2325680 , RGD:2325679
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox5
arachidonate 5-lipoxygenase
ISO
protein:increased expression:bile duct
RGD
PMID:18507031
RGD:2317521
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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Anxa2
annexin A2
disease_progression
ISO
RGD
PMID:20493868
RGD:2325728
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Anxa8
annexin A8
ISO
RGD
PMID:19376120
RGD:2325733
NCBI chr16:9,397,144...9,412,072
Ensembl chr16:9,397,113...9,412,043
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Apc
APC regulator of WNT signaling pathway
ISO
DNA:hypermethylation:promoter DNA:loss of heterozygosity
RGD
PMID:15467712 PMID:10212000
RGD:2317198 , RGD:2317205
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Apoa1
apolipoprotein A1
ISO
protein:decreased expression:serum
RGD
PMID:19486127
RGD:2325756
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Asph
aspartate-beta-hydroxylase
ISO
RGD
PMID:21898484
RGD:6902945
NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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Atg101
autophagy related 101
disease_progression
ISO
RGD
PMID:35592424
RGD:153350091
NCBI chr 7:132,398,477...132,407,643
Ensembl chr 7:132,398,483...132,407,633
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Birc6
baculoviral IAP repeat-containing 6
ameliorates
ISO
mRNA:increased expression:bile duct (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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Braf
B-Raf proto-oncogene, serine/threonine kinase
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:12692057
RGD:11073239
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
onset
ISO
protein:decreased expression:liver
RGD
PMID:15619210
RGD:2317417
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:75,766,770...75,771,084
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Cycs
cytochrome c, somatic
ISO
RGD
PMID:19788692
RGD:2317615
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)
RGD
PMID:23375797
RGD:151361187
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Cholangiocarcinoma
CTD ClinVar
PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Epo
erythropoietin
IEP
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Epor
erythropoietin receptor
IEP
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression no_association
ISO
DNA:SNP: :g.148505302C>T (rs887569) (human) DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
RGD
PMID:24179546 PMID:24179546
RGD:126779604 , RGD:126779604
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Faslg
Fas ligand
ISO
RGD
PMID:11029528
RGD:2317746
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgf2
fibroblast growth factor 2
ISO
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fscn1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile ducts
RGD
PMID:19721413
RGD:2317780
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22561520 PMID:17356712
RGD:1601377
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:24049014
RGD:14700980
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
treatment
ISO
DNA:hypermethylation:promoter human cell line in a mouse model
RGD
PMID:15467712 PMID:12805482
RGD:2317198 , RGD:14401711
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hdac6
histone deacetylase 6
ISO
protein:increased expression:liver:
RGD
PMID:23370327
RGD:9681560
NCBI chr X:14,550,645...14,572,445
Ensembl chr X:14,551,044...14,572,441
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Hgf
hepatocyte growth factor
IEP ISO
mRNA, protein:increased expression: : protein:increased expression:serum
RGD
PMID:10827151 PMID:16974053
RGD:2317925 , RGD:2317909
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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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 chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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 chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1b
interleukin 1 beta
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1r2
interleukin 1 receptor type 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725
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Il4r
interleukin 4 receptor
ISO
mRNA:increased expression:bile duct
RGD
PMID:18798553
RGD:2317263
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma protein:increased expression:serum CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
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:17621267 PMID:17623760 PMID:18550579 PMID:15011822 PMID:28925763 More...
RGD:2317167 , RGD:14975292
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Kcnd2
potassium voltage-gated channel subfamily D member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728
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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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8968066 PMID:22561520
NCBI chr 4:178,185,418...178,218,484
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Krt7
keratin 7
ISO
RGD
PMID:18393293
RGD:2317308
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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Mdm2
MDM2 proto-oncogene
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15619210
RGD:2317417
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Met
MET proto-oncogene, receptor tyrosine kinase
disease_progression
IEP ISO
protein:increased expression:liver, biliary epithelium (rat) protein:increased phosphorylation:liver, carcinoma (human)
RGD
PMID:14656942 PMID:16818635
RGD:2317601 , RGD:2317578
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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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 chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:17550320
RGD:2317632
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:30653586
RGD:21081530
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir192
microRNA 192
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir21
microRNA 21
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir23b
microRNA 23b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
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Mir494
microRNA 494
severity exacerbates
ISO
RGD
PMID:30314946 PMID:30314946
RGD:156420141 , RGD:156420141
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:12903495
RGD:2317705
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Mmp2
matrix metallopeptidase 2
disease_progression
IEP ISO
protein:increased expression:bile duct
RGD
PMID:15213623 PMID:19629755
RGD:2324667 , RGD:2325769
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO IEP
mRNA:increased expression:bile duct protein:increased expression:bile duct
RGD
PMID:16463672 PMID:15213623 PMID:15213623
RGD:2325856 , RGD:2324667 , RGD:2324667
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:17201138
RGD:2317119
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc1
mucin 1, cell surface associated
disease_progression
ISO IEP
protein:increased secretion:bile protein:increased expression:serum protein:increased expression:bile duct: mRNA:increased expression:bile duct
RGD
PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217
RGD:2324622 , RGD:2324664 , RGD:2324667 , RGD:2324638 , RGD:2317986
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc16
mucin 16, cell surface associated
ISO
associated with Opisthorchiasis;protein:increased expression:serum
RGD
PMID:1653472
RGD:2325142
NCBI chr 8:16,164,531...16,323,126
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Muc17
mucin 17, cell surface associated
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc3a
mucin 3A, cell surface associated
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr12:19,450,679...19,454,753
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Muc4
mucin 4, cell surface associated
disease_progression
ISO IEP
protein:increased expression:bile duct
RGD
PMID:14752841 PMID:19082442
RGD:2324944 , RGD:2303602
NCBI chr11:68,008,245...68,053,242
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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:14508831 PMID:11680592
RGD:2324990 , RGD:2324948
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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Nat2
N-acetyltransferase 2
ISO
DNA:polymorphisms (human)
RGD
PMID:15901993
RGD:2317172
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Ncam1
neural cell adhesion molecule 1
ISO
associated with hepatitis
RGD
PMID:12031086
RGD:2326079
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16818635 PMID:16094703
RGD:2325280
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Notch1
notch receptor 1
ISO
protein:increased expression:cholangiocyte
RGD
PMID:15887117
RGD:2325330
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
disease_progression
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:24255171
RGD:15090822
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Ogg1
8-oxoguanine DNA glycosylase
disease_progression
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11866974 PMID:11260864
RGD:2317134 , RGD:2317136
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Osbp2
oxysterol binding protein 2
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr14:78,585,088...78,746,785
Ensembl chr14:78,585,089...78,746,786
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Osbpl7
oxysterol binding protein-like 7
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
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Panx2
pannexin 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 7:120,139,259...120,153,056
Ensembl chr 7:120,139,294...120,152,361
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Pawr
pro-apoptotic WT1 regulator
ISO
mRNA,protein:decreased expression:cholangiocyte:
RGD
PMID:20724592
RGD:9835357
NCBI chr 7:43,645,028...43,725,033
Ensembl chr 7:43,645,084...43,725,028
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Peg3
paternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
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Pes1
pescadillo ribosomal biogenesis factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34845814
NCBI chr14:78,850,754...78,867,134
Ensembl chr14:78,850,709...78,867,134
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Pir
pirin
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
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Ppia
peptidylprolyl isomerase A
ameliorates
ISO
human cell line and construct in a mouse model
RGD
PMID:21871105
RGD:150429623
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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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 chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
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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 chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
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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 chr 3:91,214,646...91,243,347
Ensembl chr 3:91,214,653...91,243,273
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Prss2
protease, serine, 2
ISO
protein:increased expression:serum
RGD
PMID:8621252
RGD:2324908
NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385
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Prss56
serine protease 56
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27022031 PMID:23376645
RGD:12802341
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:bile duct ClinVar Annotator: match by term: Cholangiocarcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16818635 PMID:19621664
RGD:2317180
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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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 chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
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Reg1a
regenerating family member 1 alpha
susceptibility
ISO
mRNA, protein:increased expression:liver (human)
RGD
PMID:11343228
RGD:10044031
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Rnf39
ring finger protein 39
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr20:1,604,794...1,610,283
Ensembl chr20:1,604,794...1,610,283
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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 PMID:22561520
RGD:151361227
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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Robo2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr11:12,528,949...14,096,726
Ensembl chr11:12,528,951...13,041,536
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Runx3
RUNX family transcription factor 3
ISO
protein:decreased expression:bile duct
RGD
PMID:19827872
RGD:2324955
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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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 chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
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Slc5a5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408651
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Slc7a5
solute carrier family 7 member 5
disease_progression treatment
ISO
RGD
PMID:25475870 PMID:28347255 PMID:24131658
RGD:151361214 , RGD:151361294 , RGD:151361287
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Socs3
suppressor of cytokine signaling 3
severity
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Sox17
SRY-box transcription factor 17
severity
IEP
RGD
PMID:20816680
RGD:4889598
NCBI chr 5:15,016,660...15,022,228
Ensembl chr 5:15,016,731...15,022,228
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Sox2
SRY-box transcription factor 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO IEP
protein:increased expression:pancreas
RGD
PMID:16083599 PMID:12632524
RGD:2325020 , RGD:1299231
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
mRNA:increased expression:bile duct
RGD
PMID:12632524
RGD:1299231
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Thbs1
thrombospondin 1
disease_progression
ISO
DNA:hypermethylation (human)
RGD
PMID:11927969 PMID:12213730 PMID:16465407
RGD:2325027 , RGD:2325026 , RGD:2325024
NCBI chr 3:105,056,293...105,071,445
Ensembl chr 3:105,056,292...105,071,440
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Tnc
tenascin C
severity
IEP
RGD
PMID:20816680
RGD:4889598
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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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 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635 PMID:22561520
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ttr
transthyretin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:18275060
RGD:151660506
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Ugt1a9
UDP glucuronosyltransferase family 1 member A9
ISO
RGD
PMID:9230212
RGD:2325161
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Vegfa
vascular endothelial growth factor A
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Wdhd1
WD repeat and HMG-box DNA binding protein 1
ameliorates
ISO
RGD
PMID:30314946
RGD:156420141
NCBI chr15:20,478,310...20,523,106
Ensembl chr15:20,489,291...20,523,096
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Wnt9a
Wnt family member 9A
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr10:44,094,140...44,121,134
Ensembl chr10:44,094,140...44,121,133
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Apob
apolipoprotein B
ISO
protein:increased expression:serum
RGD
PMID:18076041
RGD:2325763
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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Fscn1
fascin actin-bundling protein 1
ISO
mRNA, protein:increased expression: :
RGD
PMID:15136764
RGD:2317789
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
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Msln
mesothelin
ISO
protein:increased expression:common bile duct, ampulla of vater
RGD
PMID:16416732
RGD:2326064
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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Mtap
methylthioadenosine phosphorylase
ISO
DNA, protein:deletion, decreased expression:common bile duct:
RGD
PMID:15662124
RGD:2317954
NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
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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 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Muc4
mucin 4, cell surface associated
ISO
protein:increased expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr11:68,008,245...68,053,242
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:altered expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:10760693
RGD:2325158
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Bap1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Pbrm1
polybromo 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Rac1
Rac family small GTPase 1
ISO
protein:increased expression:mucosa (human)
RGD
PMID:21537609
RGD:153350126
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
G
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
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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 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465
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Xpo1
exportin 1
disease_progression
ISO
protein:increased expression:extrahepatic bile duct (human)
RGD
PMID:27279267
RGD:151665800
NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Hepatic adenomas, familial | ClinVar Annotator: match by term: LIVER CELL ADENOMAS, FAMILIAL CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9392505 PMID:9439666 PMID:9754819 PMID:10333057 PMID:10447526 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11315851 PMID:11393552 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15883474 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:19169489 PMID:19929997 PMID:21051477 PMID:21628466 PMID:21696527 PMID:22348187 PMID:22432108 PMID:23348805 PMID:23551881 PMID:23607861 PMID:24097065 PMID:25174781 PMID:25555642 PMID:25741868 PMID:26059258 PMID:26431509 PMID:26467025 PMID:27148439 PMID:28395978 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30293189 PMID:30455330 PMID:30814848 PMID:31264968 PMID:31365591 PMID:31517624 PMID:31576961 PMID:31638168 PMID:32238361 PMID:32395877 PMID:32741144 PMID:32910913 PMID:34373539 PMID:35328643 PMID:35673428 More...
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Hepatic hemangioma
ClinVar
PMID:33912852
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Tsc2
TSC complex subunit 2
IAGP
DNA:mutations:multiple associated with tuberous sclerosis;DNA:mutations:multiple
RGD
PMID:29512829 PMID:22251200
RGD:21079730 , RGD:21079732
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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A2m
alpha-2-macroglobulin
IEP ISO
mRNA,protein:increased expression:liver: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15509519 PMID:15509519
RGD:1358261
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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Carm1
coactivator-associated arginine methyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:23912631
RGD:9586718
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17620307
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147764
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
treatment
IEP
RGD
PMID:23543859
RGD:14700918
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Cyp3a23-3a1
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10959800
NCBI chr12:9,256,159...9,285,020
Ensembl chr12:9,254,475...9,285,030 Ensembl chr12:9,254,475...9,285,030
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Hnf1a
HNF1 homeobox A
susceptibility exacerbates
IAGP ISO
DNA:loss of heterozygosity, mutations:multiple DNA:mutation: (human) DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
RGD
PMID:12355088 PMID:17663417 PMID:14598263
RGD:14700683 , RGD:150530291 , RGD:14700774
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Hp
haptoglobin
IEP
RGD
PMID:10569800
RGD:1626391
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8200073
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Kras
KRAS proto-oncogene, GTPase
induced
IAGP
aflatoxin B1 induced:DNA:transversion,transition mutations:cds:
RGD
PMID:8446626
RGD:11568697
NCBI chr 4:178,185,418...178,218,484
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Map3k8
mitogen-activated protein kinase kinase kinase 8
ameliorates
ISO
RGD
PMID:26560698
RGD:11342977
NCBI chr17:53,382,908...53,403,216
Ensembl chr17:53,383,131...53,403,216
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Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31939706
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
RGD
PMID:17183066
RGD:14696794
NCBI chr 7:23,846,122...23,942,085
Ensembl chr 7:23,846,122...23,942,047
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Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25656644
NCBI chr13:83,632,940...83,638,193
Ensembl chr13:83,632,899...83,637,906
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27022031 PMID:15199412
RGD:1302555
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISS
MouseDO
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Tmem70
transmembrane protein 70
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr 5:2,637,102...2,654,729
Ensembl chr 5:2,637,102...2,654,729
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Ube2e2
ubiquitin-conjugating enzyme E2E 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr15:6,980,241...7,257,912
Ensembl chr15:6,980,474...7,257,532
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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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Arid1a
AT-rich interaction domain 1A
disease_progression exacerbates
ISO
mRNA,protein:decreased expression:intrahepatic bile duct (human)
RGD
PMID:30849962 PMID:27433094 PMID:31665232
RGD:14974231 , RGD:126775257 , RGD:126781775
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Bap1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:27864835
RGD:150340628
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Becn1
beclin 1
disease_progression
ISO
RGD
PMID:30849962
RGD:14974231
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Braf
B-Raf proto-oncogene, serine/threonine kinase
severity
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:24139215
RGD:14398746
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
severity
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Foxp3
forkhead box P3
IDA
DNA:hypomethylation:liver
RGD
PMID:24291052
RGD:38599002
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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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 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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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 chr 9:15,432,986...15,438,358
Ensembl chr 9:15,433,691...15,438,488
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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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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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:14985256 , RGD:149735894
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Kdm5c
lysine demethylase 5C
exacerbates
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:32714863
RGD:151361175
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISS ISO
DNA:mutations::
MouseDO RGD
PMID:24139215
RGD:14398746
NCBI chr 4:178,185,418...178,218,484
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Lcn2
lipocalin 2
treatment
IDA ISO
Protein:increased expression:bile duct
RGD
PMID:24939880 PMID:24939880
RGD:126790491 , RGD:126790491
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Lrp1b
LDL receptor related protein 1B
exacerbates
ISO
DNA:mutations:multiple: (human)
RGD
PMID:33014052
RGD:150429786
NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505
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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 chr 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691
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Mir152
microRNA 152
ISO
miRNA:decreased expression:intrahepatic bile duct
RGD
PMID:28921383
RGD:19165148
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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Mir200b
microRNA 200b
ISO
RNA:increased expression:liver
RGD
PMID:27685844
RGD:14928335
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mir21
microRNA 21
ISO
RNA:increased expression:liver,plasma
RGD
PMID:27685844
RGD:14928335
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir221
microRNA 221
severity
ISO
RGD
PMID:27685844
RGD:14928335
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
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Pbrm1
polybromo 1
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796 PMID:27864835
RGD:152998946 , RGD:150340628
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Pten
phosphatase and tensin homolog
disease_progression
ISO
protein:decreased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Rnf43
ring finger protein 43
exacerbates
ISO
mRNA, protein:decreased expression:liver, bile duct epithelium (human)
RGD
PMID:26980022
RGD:151361125
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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Runx1
RUNX family transcription factor 1
ISO
mRNA:increased expression:intrahepatic bile duct
RGD
PMID:31015363
RGD:126775143
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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S100b
S100 calcium binding protein B
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Tep1
telomerase associated protein 1
ISO
mRNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr15:24,045,876...24,093,526
Ensembl chr15:24,045,878...24,093,526
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Terc
telomerase RNA component
ISO
RNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr 2:112,815,654...112,816,041
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Gata6
GATA binding protein 6
sexual_dimorphism
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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Kmt2c
lysine methyltransferase 2C
onset
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 4:178,185,418...178,218,484
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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:33387086 PMID:33387086
RGD:126848756 , RGD:126848756
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Aldob
aldolase, fructose-bisphosphate B
IEP
protein:increased activity:liver (rat)
RGD
PMID:8264573
RGD:2313432
NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
IMP
RGD
PMID:9633945
RGD:10755510
NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390
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Cbx7
chromobox 7
ISO
RGD
PMID:22214847
RGD:9587356
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
IEP
protein:increased expression:liver
RGD
PMID:23890812
RGD:13792775
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Col1a1
collagen type I alpha 1 chain
onset
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:21295105
RGD:5130894
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Eif4g2
eukaryotic translation initiation factor 4, gamma 2
ISO
RGD
PMID:9633945
RGD:10755510
NCBI chr 1:165,181,433...165,193,583
Ensembl chr 1:165,181,434...165,193,588
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H2ax
H2A.X variant histone
treatment
IEP
RGD
PMID:23474136
RGD:8693737
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 Ensembl chr 4:44,671,786...44,673,239
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Hspa4
heat shock protein family A (Hsp70) member 4
IEP
protein:increased expression:liver (rat)
RGD
PMID:22213170
RGD:5686872
NCBI chr10:37,408,025...37,449,080
Ensembl chr10:37,408,025...37,449,001
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Il10
interleukin 10
treatment
IEP
RGD
PMID:25168696
RGD:11049493
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Kmt5c
lysine methyltransferase 5C
disease_progression
IEP
protein:decreased expression:liver
RGD
PMID:16497704
RGD:9586726
NCBI chr 1:69,099,531...69,107,145
Ensembl chr 1:69,099,539...69,107,145
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Map2k3
mitogen activated protein kinase kinase 3
ISO
RGD
PMID:24233520
RGD:7495808
NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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Met
MET proto-oncogene, receptor tyrosine kinase
onset
IEP
mRNA, protein:increased expression:neoplastic liver (rat)
RGD
PMID:11956651
RGD:2317546
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mthfr
methylenetetrahydrofolate reductase
onset
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:22213190
RGD:6893663
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Nqo1
NAD(P)H quinone dehydrogenase 1
IEP
RGD
PMID:24418717
RGD:11035219
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Ttpa
alpha tocopherol transfer protein
IEP
mRNA:decreased expression:liver
RGD
PMID:9178827
RGD:1600436
NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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Tut4
terminal uridylyl transferase 4
ISO
human cells in a mouse model
RGD
PMID:24056962
RGD:11530012
NCBI chr 5:123,201,723...123,306,582
Ensembl chr 5:123,203,003...123,306,465
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Periampullary adenoma
ClinVar
PMID:25741868 PMID:27087319 PMID:28492532 PMID:32860008
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all