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
GViewer not supported for the selected species.
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ASPH
aspartate beta-hydroxylase
ISO
mRNA:increased expression:bile duct
RGD
PMID:16673309
RGD:2325824
NCBI chr 8:57,378,019...57,599,812
Ensembl chr 8:57,375,894...57,565,259
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EGFR
epidermal growth factor receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17341899
NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
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FSCN1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:17419223
RGD:2317786
NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337
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IL6
interleukin 6
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:17617204
RGD:2317166
NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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LOC103233851
mucin-16
ISO
protein:increased expression:serum,bile
RGD
PMID:1657243
RGD:2325134
NCBI chr 6:8,110,087...8,256,015
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LOC103242066
mucin-4
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:16857800
RGD:2324929
NCBI chr15:91,313,060...91,345,172
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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 chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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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 9:122,089,768...122,376,320
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MKI67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:9869516
RGD:2317706
NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
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NCAM1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:8501910 PMID:9851639
RGD:2326076 RGD:2326077
NCBI chr 1:104,332,622...104,647,258
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RUNX3
RUNX family transcription factor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:15471559
RGD:2324957
NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24131658
RGD:151361287
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
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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 chr21:109,495,525...109,690,261
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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 chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704
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APOE
apolipoprotein E
susceptibility
ISO
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 6:38,377,154...38,381,219
Ensembl chr 6:38,376,887...38,381,438
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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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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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 chr15:2,364,537...2,418,379
Ensembl chr15:2,364,738...2,418,393
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:33357406
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
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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 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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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 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551
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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 6:973,033...996,857
Ensembl chr 6:974,144...995,136
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TJP1
tight junction protein 1
ISO
protein:decreased expression:bile duct
RGD
PMID:19184677
RGD:2325030
NCBI chr26:52,623,751...52,750,037
Ensembl chr26:52,622,743...52,749,950
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MSLN
mesothelin
ISO
protein:increased expression:bile duct
RGD
PMID:17276942
RGD:2326059
NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
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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 9:92,826,423...92,902,389
Ensembl chr 9:92,841,818...92,902,265
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ADRB2
adrenoceptor beta 2
ISO
protein:decreased expression:liver
RGD
PMID:16292515
RGD:2325640
NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
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ALB
albumin
disease_progression
ISO
RGD
PMID:10776430 PMID:17545000 PMID:20431764
RGD:2325679 RGD:2325680 RGD:2325682
NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407
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ALOX5
arachidonate 5-lipoxygenase
ISO
protein:increased expression:bile duct
RGD
PMID:18507031
RGD:2317521
NCBI chr 9:41,085,257...41,145,760
Ensembl chr 9:41,085,361...41,145,331
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ANXA2
annexin A2
disease_progression
ISO
RGD
PMID:20493868
RGD:2325728
NCBI chr26:23,100,000...23,147,687
Ensembl chr26:23,099,992...23,145,457
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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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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APOA1
apolipoprotein A1
ISO
protein:decreased expression:serum
RGD
PMID:19486127
RGD:2325756
NCBI chr 1:108,201,967...108,203,902
Ensembl chr 1:108,201,439...108,203,609
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ARID1A
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
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ASPH
aspartate beta-hydroxylase
ISO
RGD
PMID:21898484
RGD:6902945
NCBI chr 8:57,378,019...57,599,812
Ensembl chr 8:57,375,894...57,565,259
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ATG101
autophagy related 101
disease_progression
ISO
RGD
PMID:35592424
RGD:153350091
NCBI chr11:48,243,200...48,251,129
Ensembl chr11:48,243,216...48,251,371
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BAP1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:25231345
NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
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BIRC6
baculoviral IAP repeat containing 6
ameliorates
ISO
mRNA:increased expression:bile duct (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr14:74,879,597...75,138,462
Ensembl chr14:74,878,700...75,138,441
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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 chr21:109,495,525...109,690,261
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CXCL8
C-X-C motif chemokine ligand 8
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
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CXCR1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr10:104,052,709...104,056,388
Ensembl chr10:104,053,544...104,054,620
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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 chr 2:9,868,794...9,889,510
Ensembl chr 2:9,868,678...9,885,884
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EGF
epidermal growth factor
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
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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 chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
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EPO
erythropoietin
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908
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EPOR
erythropoietin receptor
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635
NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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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 chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573
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FASLG
Fas ligand
ISO
RGD
PMID:11029528
RGD:2317746
NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
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FGF2
fibroblast growth factor 2
ISO
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 7:70,089,394...70,157,423
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FGFR2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704
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FSCN1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile ducts
RGD
PMID:19721413
RGD:2317780
NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337
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GSTP1
glutathione S-transferase pi 1
treatment
ISO
human cell line in a mouse model DNA:hypermethylation:promoter
RGD
PMID:12805482 PMID:15467712
RGD:14401711 RGD:2317198
NCBI chr 1:6,676,897...6,679,936
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HDAC6
histone deacetylase 6
ISO
protein:increased expression:liver:
RGD
PMID:23370327
RGD:9681560
NCBI chr X:45,927,625...45,951,636
Ensembl chr X:45,928,092...45,952,929
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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 chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
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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 chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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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 chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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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 chr25:22,514,199...22,523,680
Ensembl chr25:22,514,559...22,520,499
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IL1B
interleukin 1 beta
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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IL1R2
interleukin 1 receptor type 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr14:5,672,434...5,708,270
Ensembl chr14:5,673,163...5,708,372
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IL4R
interleukin 4 receptor
ISO
mRNA:increased expression:bile duct
RGD
PMID:18798553
RGD:2317263
NCBI chr 5:25,019,638...25,069,732
Ensembl chr 5:25,046,701...25,070,015
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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 chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
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INS
insulin
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:1,965,128...1,969,090
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KCND2
potassium voltage-gated channel subfamily D member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr21:89,091,939...89,575,464
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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 chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976
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KMT2C
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137
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KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8968066 PMID:22561520
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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KRT7
keratin 7
ISO
RGD
PMID:18393293
RGD:2317308
NCBI chr11:48,379,460...48,394,638
Ensembl chr11:48,379,465...48,394,643
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LOC103224275
glutathione S-transferase Mu 1
ISO
RGD
PMID:24049014
RGD:14700980
NCBI chr20:23,854,969...23,861,634
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LOC103226354
cytochrome c
ISO
RGD
PMID:19788692
RGD:2317615
NCBI chr21:33,251,825...33,253,298
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LOC103227060
serine protease 2
ISO
protein:increased expression:serum
RGD
PMID:8621252
RGD:2324908
NCBI chr21:111,650,502...111,656,688
Ensembl chr21:111,651,681...111,656,699
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LOC103231165
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657
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LOC103233851
mucin-16
ISO
associated with Opisthorchiasis;protein:increased expression:serum
RGD
PMID:1653472
RGD:2325142
NCBI chr 6:8,110,087...8,256,015
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LOC103241787
mucin-6
ISO
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr 1:822,052...858,589
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LOC103242066
mucin-4
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:14752841 PMID:19082442
RGD:2303602 RGD:2324944
NCBI chr15:91,313,060...91,345,172
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LOC103243509
neuroendocrine secretory protein 55
disease_progression
ISO
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17356712 PMID:22561520
RGD:1601377
NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
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MDM2
MDM2 proto-oncogene
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15619210
RGD:2317417
NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
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MET
MET proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
protein:increased phosphorylation:liver, carcinoma (human) protein:increased expression:liver, biliary epithelium (rat)
RGD
PMID:14656942 PMID:16818635
RGD:2317578 RGD:2317601
NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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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 chr25:23,740,916...23,774,514
Ensembl chr25:23,743,360...23,774,451
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:17550320
RGD:2317632
NCBI chr 9:122,089,768...122,376,320
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MKI67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:12903495
RGD:2317705
NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
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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 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:bile duct mRNA:increased expression:bile duct
RGD
PMID:15213623 PMID:16463672
RGD:2324667 RGD:2325856
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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MSLN
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:17201138
RGD:2317119
NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950
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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 chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 1:893,554...926,854
G
MUC3A
mucin 3A, cell surface associated
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
ISO
mRNA:increased expression:bile duct protein:increased expression:serum
RGD
PMID:11680592 PMID:14508831
RGD:2324948 RGD:2324990
NCBI chr 1:981,515...1,018,242
G
MUC5B
mucin 5B, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 1:1,040,756...1,083,246
Ensembl chr 1:1,042,110...1,081,240
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NAT2
N-acetyltransferase 2
ISO
DNA:polymorphisms (human)
RGD
PMID:15901993
RGD:2317172
NCBI chr 8:16,451,144...16,494,961
Ensembl chr 8:16,493,749...16,494,621
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NCAM1
neural cell adhesion molecule 1
ISO
associated with hepatitis
RGD
PMID:12031086
RGD:2326079
NCBI chr 1:104,332,622...104,647,258
G
NOS2
nitric oxide synthase 2
ISO
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16094703 PMID:16818635
RGD:2325280
NCBI chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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NOTCH1
notch receptor 1
ISO
protein:increased expression:cholangiocyte
RGD
PMID:15887117
RGD:2325330
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
G
NR1H4
nuclear receptor subfamily 1 group H member 4
disease_progression
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:24255171
RGD:15090822
NCBI chr11:95,792,428...95,877,989
Ensembl chr11:95,792,996...95,878,293
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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 chr22:45,757,414...45,763,690
G
OSBP2
oxysterol binding protein 2
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr19:13,576,331...13,817,628
Ensembl chr19:13,762,503...13,798,702
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OSBPL7
oxysterol binding protein like 7
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr16:68,208,121...68,222,684
G
PANX2
pannexin 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr19:32,662,350...32,671,536
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PAWR
pro-apoptotic WT1 regulator
ISO
mRNA,protein:decreased expression:cholangiocyte:
RGD
PMID:20724592
RGD:9835357
NCBI chr11:75,132,547...75,219,633
Ensembl chr11:75,133,186...75,219,072
G
PBRM1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254
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PEG3
paternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 6:49,284,174...49,300,162
Ensembl chr 6:49,284,064...49,313,455
G
PES1
pescadillo ribosomal biogenesis factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34845814
NCBI chr19:13,453,184...13,469,115
Ensembl chr19:13,453,160...13,469,012
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PIR
pirin
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr X:13,854,356...13,966,554
Ensembl chr X:13,854,236...13,966,506
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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 chr21:13,876,099...13,883,546
Ensembl chr21:13,876,099...13,883,462
G
PPP3CA
protein phosphatase 3 catalytic subunit alpha
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013
G
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 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 6:12,743,752...12,759,155
G
PRKACB
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr20:49,109,774...49,273,200
Ensembl chr20:49,108,425...49,178,806
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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 1:32,368,966...32,391,490
Ensembl chr 1:32,364,771...32,390,977
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PRSS56
serine protease 56
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr10:118,538,752...118,545,759
Ensembl chr10:118,540,863...118,545,740
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PTEN
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23376645 PMID:27022031
RGD:12802341
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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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 chr11:25,709,062...25,826,507
Ensembl chr11:25,745,996...25,826,508
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RNF39
ring finger protein 39
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr17:42,423,486...42,429,631
Ensembl chr17:42,424,126...42,428,787
G
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 chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107
G
ROBO2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr22:99,334,033...101,101,924
G
RUNX3
RUNX family transcription factor 3
ISO
protein:decreased expression:bile duct
RGD
PMID:19827872
RGD:2324955
NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
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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 chr 7:19,581,399...20,043,334
G
SLC5A5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408651
NCBI chr 6:16,346,361...16,367,833
G
SLC7A5
solute carrier family 7 member 5
disease_progression treatment
ISO
RGD
PMID:24131658 PMID:25475870 PMID:28347255
RGD:151361214 RGD:151361287 RGD:151361294
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
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SMAD4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
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SOCS3
suppressor of cytokine signaling 3
severity
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423
G
SOX17
SRY-box transcription factor 17
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr 8:50,523,816...50,527,360
Ensembl chr 8:50,524,893...50,527,847
G
SOX2
SRY-box transcription factor 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr15:7,673,581...7,676,812
Ensembl chr15:7,674,867...7,675,826
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TGFB1
transforming growth factor beta 1
disease_progression
ISO
protein:increased expression:pancreas
RGD
PMID:12632524 PMID:16083599
RGD:1299231 RGD:2325020
NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365
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TGFBR2
transforming growth factor beta receptor 2
ISO
mRNA:increased expression:bile duct
RGD
PMID:12632524
RGD:1299231
NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711
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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 chr26:43,410,693...43,427,816
Ensembl chr26:43,410,580...43,427,812
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TNC
tenascin C
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451
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TNFAIP3
TNF alpha induced protein 3
severity
ISO
protein:increased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr13:35,537,103...35,553,396
Ensembl chr13:35,537,102...35,549,197
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635 PMID:22561520
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TTR
transthyretin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:18275060
RGD:151660506
NCBI chr18:49,124,302...49,131,495
Ensembl chr18:49,124,121...49,131,399
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VEGFA
vascular endothelial growth factor A
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr17:28,377,959...28,394,508
G
WDHD1
WD repeat and HMG-box DNA binding protein 1
ameliorates
ISO
RGD
PMID:30314946
RGD:156420141
NCBI chr24:32,118,688...32,204,464
Ensembl chr24:32,117,375...32,204,388
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WNT9A
Wnt family member 9A
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr25:1,759,047...1,787,510
Ensembl chr25:1,781,826...1,788,663
G
APOB
apolipoprotein B
ISO
protein:increased expression:serum
RGD
PMID:18076041
RGD:2325763
NCBI chr14:86,624,209...86,669,175
Ensembl chr14:86,624,332...86,668,704
G
FSCN1
fascin actin-bundling protein 1
ISO
mRNA, protein:increased expression: :
RGD
PMID:15136764
RGD:2317789
NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337
G
LOC103242066
mucin-4
ISO
protein:increased expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr15:91,313,060...91,345,172
G
MSLN
mesothelin
ISO
protein:increased expression:common bile duct, ampulla of vater
RGD
PMID:16416732
RGD:2326064
NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757
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MTAP
methylthioadenosine phosphorylase
ISO
DNA, protein:deletion, decreased expression:common bile duct:
RGD
PMID:15662124
RGD:2317954
NCBI chr15:84,196,548...84,198,357
Ensembl chr12:57,997,427...58,050,241
G
MUC1
mucin 1, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:8766528
RGD:2324856
NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:altered expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr 1:981,515...1,018,242
G
TYMP
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:10760693
RGD:2325158
NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
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BAP1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
G
PBRM1
polybromo 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254
G
RAC1
Rac family small GTPase 1
ISO
protein:increased expression:mucosa (human)
RGD
PMID:21537609
RGD:153350126
NCBI chr28:15,583,609...15,610,753
Ensembl chr28:15,583,516...15,610,328
G
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
G
PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868
NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551
G
XPO1
exportin 1
disease_progression
ISO
protein:increased expression:extrahepatic bile duct (human)
RGD
PMID:27279267
RGD:151665800
NCBI chr14:45,428,279...45,487,965
Ensembl chr14:45,432,619...45,488,723
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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 chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
G
ARID1A
AT-rich interaction domain 1A
disease_progression exacerbates
ISO
mRNA,protein:decreased expression:intrahepatic bile duct (human)
RGD
PMID:27433094 PMID:30849962 PMID:31665232
RGD:126775257 RGD:126781775 RGD:14974231
NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
G
BAP1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:27864835
RGD:150340628
NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
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BECN1
beclin 1
disease_progression
ISO
RGD
PMID:30849962
RGD:14974231
NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322
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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 chr21:109,495,525...109,690,261
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FASLG
Fas ligand
severity
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
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FOXP3
forkhead box P3
ISO
DNA:hypomethylation:liver
RGD
PMID:24291052
RGD:38599002
NCBI chr X:46,349,890...46,365,133
G
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 chr24:80,016,352...80,019,130
Ensembl chr24:80,016,232...80,019,120
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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 chr17:27,914,261...27,921,666
Ensembl chr17:27,911,013...27,921,251
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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 chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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KDM5C
lysine demethylase 5C
exacerbates
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:32714863
RGD:151361175
NCBI chr X:49,306,472...49,356,151
Ensembl chr X:49,321,173...49,356,100
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KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations::
RGD MouseDO
PMID:24139215
RGD:14398746
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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LCN2
lipocalin 2
treatment
ISO
Protein:increased expression:bile duct
RGD
PMID:24939880
RGD:126790491
NCBI chr12:9,976,278...9,981,087
Ensembl chr12:9,976,614...9,980,870
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LOC103231165
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
ISO
DNA:mutations: : mRNA:decreased expression:liver (mouse)
RGD
PMID:22824796 PMID:32463951
RGD:149735894 RGD:14985256
NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657
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LRP1B
LDL receptor related protein 1B
exacerbates
ISO
DNA:mutations:multiple: (human)
RGD
PMID:33014052
RGD:150429786
NCBI chr10:25,611,400...27,511,903
Ensembl chr10:25,616,590...26,609,111
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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 chr22:26,383,310...27,057,081
Ensembl chr22:26,384,511...26,645,528
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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 chr22:13,914,023...14,059,221
Ensembl chr22:13,913,285...14,055,254
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PTEN
phosphatase and tensin homolog
disease_progression
ISO
protein:decreased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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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 chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107
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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 chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023
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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 chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
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TEP1
telomerase associated protein 1
ISO
mRNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr29:20,880,255...20,928,874
Ensembl chr29:20,883,678...20,923,313
G
APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
G
ARID1A
AT-rich interaction domain 1A
disease_progression
ISO
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
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GATA6
GATA binding protein 6
sexual_dimorphism
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746
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KMT2C
lysine methyltransferase 2C
onset
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr21:120,299,295...120,587,843
Ensembl chr21:120,301,188...120,587,137
G
KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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 chr 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all