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: hepatobiliary system cancer
Accession: DOID:0080355
browse the term
Definition: A gastrointestinal system cancer that is located_in the hepatobiliary system. (DO)
Synonyms: xref: EFO:0008550
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DDR2
discoidin domain receptor tyrosine kinase 2
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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IFITM1
interferon induced transmembrane protein 1
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272
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EPHX1
epoxide hydrolase 1
ISO
associated with estrogen excess;protein:increased activity;liver (rat)
RGD
PMID:6133380
RGD:152998935
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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GGT1
gamma-glutamyltransferase 1
ISO
associated with estrogen excess;protein:increased activity;liver (rat)
RGD
PMID:6133380
RGD:152998935
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:24131658
RGD:151361287
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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APOB
apolipoprotein B
susceptibility
IAGP
DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOE
apolipoprotein E
susceptibility
IAGP
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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ATM
ATM serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 PMID:28492532 More...
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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MIR31
microRNA 31
exacerbates
IEP
RNA:increased expression:bile duct (human)
RGD
PMID:29860474
RGD:152998990
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MLH1
mutL homolog 1
IAGP
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 chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MSH2
mutS homolog 2
IAGP
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:33357406
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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PALB2
partner and localizer of BRCA2
IAGP
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PKD1
polycystin 1, transient receptor potential channel interacting
IAGP
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 PMID:27782177 More...
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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POLD1
DNA polymerase delta 1, catalytic subunit
IAGP
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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STK11
serine/threonine kinase 11
IAGP
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TJP1
tight junction protein 1
IEP
protein:decreased expression:bile duct
RGD
PMID:19184677
RGD:2325030
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
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MSLN
mesothelin
IEP
protein:increased expression:bile duct
RGD
PMID:17276942
RGD:2326059
NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:24890221
RGD:151361210
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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APOB
apolipoprotein B
IEP
protein:increased expression:serum
RGD
PMID:18076041
RGD:2325763
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
IAGP
DNA:polymorphism:exon:rs2606345 (human)
RGD
PMID:19168589
RGD:2317210
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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PPARD
peroxisome proliferator activated receptor delta
IEP
RGD
PMID:18497548
RGD:2324871
NCBI chr 6:35,342,558...35,428,178
Ensembl chr 6:35,342,558...35,428,191
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MET
MET proto-oncogene, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma
ClinVar
PMID:9927037
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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ABCC2
ATP binding cassette subfamily C member 2
susceptibility
IAGP
DNA:polymorphism:exon:c.3972C>T (human)
RGD
PMID:19451719
RGD:2317508
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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ADRB2
adrenoceptor beta 2
IEP
protein:decreased expression:liver
RGD
PMID:16292515
RGD:2325640
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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ALB
albumin
disease_progression
IEP IDA
RGD
PMID:20431764 PMID:10776430 PMID:17545000
RGD:2325679 , RGD:2325682 , RGD:2325680
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALOX5
arachidonate 5-lipoxygenase
IEP
protein:increased expression:bile duct
RGD
PMID:18507031
RGD:2317521
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ANXA2
annexin A2
disease_progression
IEP
RGD
PMID:20493868
RGD:2325728
NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
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ANXA8
annexin A8
IEP
RGD
PMID:19376120
RGD:2325733
NCBI chr10:47,467,993...47,991,796
Ensembl chr10:47,460,162...47,484,158
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APC
APC regulator of WNT signaling pathway
IDA IAGP
DNA:hypermethylation:promoter DNA:loss of heterozygosity
RGD
PMID:15467712 PMID:10212000
RGD:2317198 , RGD:2317205
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOA1
apolipoprotein A1
IEP
protein:decreased expression:serum
RGD
PMID:19486127
RGD:2325756
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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ARID1A
AT-rich interaction domain 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ASPH
aspartate beta-hydroxylase
IDA
RGD
PMID:21898484
RGD:6902945
NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
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ATG101
autophagy related 101
disease_progression
IEP
RGD
PMID:35592424
RGD:153350091
NCBI chr12:52,065,300...52,077,495
Ensembl chr12:52,069,246...52,077,495
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BAP1
BRCA1 associated deubiquitinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:25231345
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BIRC6
baculoviral IAP repeat containing 6
ameliorates
HEP
mRNA:increased expression:bile duct (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571
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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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CDKN2A
cyclin dependent kinase inhibitor 2A
onset
IEP
protein:decreased expression:liver
RGD
PMID:15619210
RGD:2317417
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CST1
cystatin SN
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr20:23,747,562...23,750,935
Ensembl chr20:23,747,562...23,751,268
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CXCL8
C-X-C motif chemokine ligand 8
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR1
C-X-C motif chemokine receptor 1
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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CYCS
cytochrome c, somatic
IDA
RGD
PMID:19788692
RGD:2317615
NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
HEP
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)
RGD
PMID:23375797
RGD:151361187
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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EGF
epidermal growth factor
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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EGFR
epidermal growth factor receptor
EXP IAGP
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Cholangiocarcinoma
CTD ClinVar
PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EPO
erythropoietin
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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EPOR
erythropoietin receptor
ISO
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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ERBB2
erb-b2 receptor tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression no_association
IAGP
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 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FAM66C
family with sequence similarity 66 member C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr12:8,180,209...8,201,000
Ensembl chr12:8,180,204...8,226,278
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FASLG
Fas ligand
IDA
RGD
PMID:11029528
RGD:2317746
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FGF2
fibroblast growth factor 2
IEP
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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FGFR2
fibroblast growth factor receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FSCN1
fascin actin-bundling protein 1
disease_progression
IEP
protein:increased expression:bile ducts
RGD
PMID:19721413
RGD:2317780
NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
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GNAS
GNAS complex locus
disease_progression
IAGP EXP
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22561520 PMID:17356712
RGD:1601377
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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GSTM1
glutathione S-transferase mu 1
IAGP
RGD
PMID:24049014
RGD:14700980
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTP1
glutathione S-transferase pi 1
treatment
IDA IMP
DNA:hypermethylation:promoter human cell line in a mouse model
RGD
PMID:15467712 PMID:12805482
RGD:2317198 , RGD:14401711
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HDAC6
histone deacetylase 6
IEP
protein:increased expression:liver:
RGD
PMID:23370327
RGD:9681560
NCBI chr X:48,801,398...48,824,982
Ensembl chr X:48,801,377...48,824,982
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HGF
hepatocyte growth factor
ISO IEP
mRNA, protein:increased expression: : protein:increased expression:serum
RGD
PMID:10827151 PMID:16974053
RGD:2317925 , RGD:2317909
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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HIF1A
hypoxia inducible factor 1 subunit alpha
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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HIF1A-AS3
HIF1A antisense RNA 3
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868
NCBI chr14:61,715,558...61,751,097
Ensembl chr14:61,678,402...61,751,163
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HNF1B
HNF1 homeobox B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:39887605
NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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IL10
interleukin 10
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL19
interleukin 19
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
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IL1B
interleukin 1 beta
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1R2
interleukin 1 receptor type 2
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544
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IL4R
interleukin 4 receptor
IEP
mRNA:increased expression:bile duct
RGD
PMID:18798553
RGD:2317263
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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IL6
interleukin 6
IEP IAGP EXP
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 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6-AS1
IL6 antisense RNA 1
IAGP
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 chr 7:22,725,395...22,727,620
Ensembl chr 7:22,725,395...22,727,620
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INS
insulin
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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KCND2
potassium voltage-gated channel subfamily D member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 7:120,272,908...120,750,337
Ensembl chr 7:120,273,175...120,750,337
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KIT
KIT proto-oncogene, receptor tyrosine kinase
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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KMT2C
lysine methyltransferase 2C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
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KRAS
KRAS proto-oncogene, GTPase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8968066 PMID:22561520
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KRT7
keratin 7
IEP
RGD
PMID:18393293
RGD:2317308
NCBI chr12:52,233,243...52,255,853
Ensembl chr12:52,232,520...52,252,186
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LOC126859963
BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468
IAGP
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 chr 7:22,726,650...22,727,849
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MDM2
MDM2 proto-oncogene
disease_progression
IEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15619210
RGD:2317417
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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MET
MET proto-oncogene, receptor tyrosine kinase
disease_progression
IEP ISO
protein:increased phosphorylation:liver, carcinoma (human) protein:increased expression:liver, biliary epithelium (rat)
RGD
PMID:16818635 PMID:14656942
RGD:2317578 , RGD:2317601
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MFSD4A
major facilitator superfamily domain containing 4A
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:205,569,014...205,602,918
Ensembl chr 1:205,568,885...205,602,918
G
MGMT
O-6-methylguanine-DNA methyltransferase
IAGP
DNA:hypermethylation:promoter (human)
RGD
PMID:17550320
RGD:2317632
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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MIR155
microRNA 155
IEP
miRNA:increased expression:serum
RGD
PMID:30653586
RGD:21081530
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
G
MIR192
microRNA 192
IEP
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
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MIR21
microRNA 21
IEP
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR23B
microRNA 23b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304
G
MIR494
microRNA 494
severity exacerbates
IEP IMP
RGD
PMID:30314946 PMID:30314946
RGD:156420141 , RGD:156420141
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
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MKI67
marker of proliferation Ki-67
disease_progression
IEP
RGD
PMID:12903495
RGD:2317705
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
G
MMP2
matrix metallopeptidase 2
disease_progression
ISO IEP
protein:increased expression:bile duct
RGD
PMID:15213623 PMID:19629755
RGD:2324667 , RGD:2325769
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
G
MMP9
matrix metallopeptidase 9
IEP ISO
mRNA:increased expression:bile duct protein:increased expression:bile duct
RGD
PMID:16463672 PMID:15213623 PMID:15213623
RGD:2325856 , RGD:2324667 , RGD:2324667
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MSLN
mesothelin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
DNA:polymorphism (human)
RGD
PMID:17201138
RGD:2317119
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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MUC1
mucin 1, cell surface associated
disease_progression
IEP ISO
mRNA:increased expression:bile duct protein:increased expression:bile duct: protein:increased expression:serum protein:increased secretion:bile
RGD
PMID:19639217 PMID:18081149 PMID:15213623 PMID:19260467 PMID:19055478
RGD:2317986 , RGD:2324638 , RGD:2324667 , RGD:2324664 , RGD:2324622
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
G
MUC16
mucin 16, cell surface associated
IEP
associated with Opisthorchiasis;protein:increased expression:serum
RGD
PMID:1653472
RGD:2325142
NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390
G
MUC2
mucin 2, oligomeric mucus/gel-forming
IEP
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
G
MUC3A
mucin 3A, cell surface associated
IEP
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347
G
MUC4
mucin 4, cell surface associated
disease_progression
IEP ISO
protein:increased expression:bile duct
RGD
PMID:14752841 PMID:19082442
RGD:2324944 , RGD:2303602
NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973
G
MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
IEP
protein:increased expression:serum mRNA:increased expression:bile duct
RGD
PMID:14508831 PMID:11680592
RGD:2324990 , RGD:2324948
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
G
MUC5B
mucin 5B, oligomeric mucus/gel-forming
IEP
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
G
MUC6
mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)
IEP
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
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NAT2
N-acetyltransferase 2
IAGP
DNA:polymorphisms (human)
RGD
PMID:15901993
RGD:2317172
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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NCAM1
neural cell adhesion molecule 1
IEP
associated with hepatitis
RGD
PMID:12031086
RGD:2326079
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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NOS2
nitric oxide synthase 2
IEP EXP
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16818635 PMID:16094703
RGD:2325280
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOTCH1
notch receptor 1
IEP
protein:increased expression:cholangiocyte
RGD
PMID:15887117
RGD:2325330
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NR1H4
nuclear receptor subfamily 1 group H member 4
disease_progression
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:24255171
RGD:15090822
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
G
OGG1
8-oxoguanine DNA glycosylase
disease_progression
IAGP
DNA:loss of heterozygosity (human)
RGD
PMID:11866974 PMID:11260864
RGD:2317134 , RGD:2317136
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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OSBP2
oxysterol binding protein 2
IEP
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr22:30,693,782...30,907,813
Ensembl chr22:30,693,782...30,907,824
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OSBPL7
oxysterol binding protein like 7
IEP
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr17:47,807,372...47,821,794
Ensembl chr17:47,807,372...47,821,803
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PACERR
PTGS2 antisense NFKB1 complex-mediated expression regulator RNA
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
NCBI chr 1:186,680,654...186,681,446
Ensembl chr 1:186,680,108...186,683,165
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PANX2
pannexin 2
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr22:50,170,731...50,180,295
Ensembl chr22:50,170,731...50,180,295
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PAWR
pro-apoptotic WT1 regulator
IEP
mRNA,protein:decreased expression:cholangiocyte:
RGD
PMID:20724592
RGD:9835357
NCBI chr12:79,584,879...79,690,964
Ensembl chr12:79,574,979...79,690,964
G
PBRM1
polybromo 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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PEG3
paternally expressed 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr19:56,810,082...56,840,726
Ensembl chr19:56,810,077...56,840,728
G
PES1
pescadillo ribosomal biogenesis factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34845814
NCBI chr22:30,576,625...30,607,013
Ensembl chr22:30,576,625...30,607,083
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PIR
pirin
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr X:15,384,799...15,493,333
Ensembl chr X:15,384,799...15,493,564
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PPIA
peptidylprolyl isomerase A
ameliorates
IMP
human cell line and construct in a mouse model
RGD
PMID:21871105
RGD:150429623
NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
sexual_dimorphism
IAGP
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:28000796
RGD:151665188
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKACB
protein kinase cAMP-activated catalytic subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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PRRG4
proline rich and Gla domain 4
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr11:32,829,789...32,858,120
Ensembl chr11:32,829,927...32,858,120
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PRSS2
serine protease 2
IEP
protein:increased expression:serum
RGD
PMID:8621252
RGD:2324908
NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
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PRSS56
serine protease 56
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
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PTEN
phosphatase and tensin homolog
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27022031 PMID:23376645
RGD:12802341
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
G
PTGS2
prostaglandin-endoperoxide synthase 2
IEP IAGP EXP
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 chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RASSF8
Ras association domain family member 8
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr12:25,958,232...26,079,889
Ensembl chr12:25,958,232...26,079,892
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REG1A
regenerating family member 1 alpha
susceptibility
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:11343228
RGD:10044031
NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409
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RNF39
ring finger protein 39
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 6:30,070,270...30,075,769
Ensembl chr 6:30,070,266...30,075,849
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RNF43
ring finger protein 43
exacerbates
EXP IAGP
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human)
CTD RGD
PMID:22561520 PMID:22561520
RGD:151361227
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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ROBO2
roundabout guidance receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 3:75,906,675...77,649,964
Ensembl chr 3:75,906,695...77,649,964
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RUNX3
RUNX family transcription factor 3
IEP
protein:decreased expression:bile duct
RGD
PMID:19827872
RGD:2324955
NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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SLC4A4
solute carrier family 4 member 4
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
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SLC5A5
solute carrier family 5 member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408651
NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
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SLC7A5
solute carrier family 7 member 5
disease_progression treatment
IEP IMP
RGD
PMID:25475870 PMID:28347255 PMID:24131658
RGD:151361214 , RGD:151361294 , RGD:151361287
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SMAD4
SMAD family member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SOCS3
suppressor of cytokine signaling 3
severity
IEP
protein:decreased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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SOX17
SRY-box transcription factor 17
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892
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SOX2
SRY-box transcription factor 2
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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TGFB1
transforming growth factor beta 1
disease_progression
IEP ISO
protein:increased expression:pancreas
RGD
PMID:16083599 PMID:12632524
RGD:2325020 , RGD:1299231
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFBR2
transforming growth factor beta receptor 2
ISO
mRNA:increased expression:bile duct
RGD
PMID:12632524
RGD:1299231
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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THBS1
thrombospondin 1
disease_progression
IEP IDA
DNA:hypermethylation (human)
RGD
PMID:16465407 PMID:11927969 PMID:12213730
RGD:2325024 , RGD:2325027 , RGD:2325026
NCBI chr15:39,581,079...39,599,466
Ensembl chr15:39,581,079...39,599,466
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TNC
tenascin C
severity
ISO
RGD
PMID:20816680
RGD:4889598
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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TNFAIP3
TNF alpha induced protein 3
severity
IEP
protein:increased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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TP53
tumor protein p53
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635 PMID:22561520
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TTR
transthyretin
IEP
protein:decreased expression:blood serum (human)
RGD
PMID:18275060
RGD:151660506
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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UGT1A9
UDP glucuronosyltransferase family 1 member A9
IEP
RGD
PMID:9230212
RGD:2325161
NCBI chr 2:233,671,898...233,773,300
Ensembl chr 2:233,671,898...233,773,300
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VEGFA
vascular endothelial growth factor A
IAGP
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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WDHD1
WD repeat and HMG-box DNA binding protein 1
ameliorates
IMP
RGD
PMID:30314946
RGD:156420141
NCBI chr14:54,938,949...55,027,099
Ensembl chr14:54,938,949...55,027,105
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WNT9A
Wnt family member 9A
disease_progression
IEP
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:227,918,656...227,947,932
Ensembl chr 1:227,918,656...227,947,932
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BAP1
BRCA1 associated deubiquitinase 1
disease_progression
IAGP
RGD
PMID:25536104
RGD:150340631
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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PBRM1
polybromo 1
disease_progression
IAGP
RGD
PMID:25536104
RGD:150340631
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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RAC1
Rac family small GTPase 1
IEP
protein:increased expression:mucosa (human)
RGD
PMID:21537609
RGD:153350126
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:24890221
RGD:151361210
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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PKD1
polycystin 1, transient receptor potential channel interacting
IAGP
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868
NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
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POLD1
DNA polymerase delta 1, catalytic subunit
IAGP
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
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XPO1
exportin 1
disease_progression
IEP
protein:increased expression:extrahepatic bile duct (human)
RGD
PMID:27279267
RGD:151665800
NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741
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CA12
carbonic anhydrase 12
IEP
mRNA:increased expression:liver
RGD
PMID:28304380
RGD:153352326
NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846
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CTNNB1
catenin beta 1
IDA
protein:increased tyrosine phosphorylation:exon:
RGD
PMID:19101982
RGD:14402052
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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FGFR1
fibroblast growth factor receptor 1
IEP
protein:increased expression:liver:
RGD
PMID:24925055
RGD:11055933
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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PRKACA
protein kinase cAMP-activated catalytic subunit alpha
IGI
mRNA,protein:increased expression:liver (human)
RGD
PMID:27027723
RGD:151347845
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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ACE
angiotensin I converting enzyme
IAGP
DNA:polymorphism: :rs4646994 (human)
RGD
PMID:20438364
RGD:2325207
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CDK1
cyclin dependent kinase 1
IEP
protein:increased expression:gallbladder
RGD
PMID:15017593
RGD:2722465
NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852
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DDR2
discoidin domain receptor tyrosine kinase 2
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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IFITM1
interferon induced transmembrane protein 1
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272
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APC
APC regulator of WNT signaling pathway
disease_progression
IAGP
DNA:SNP::rs11954856(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOB
apolipoprotein B
susceptibility
IAGP
DNA:SNP: :rs693 (human)
RGD
PMID:17696941 PMID:20082485
RGD:2325764 , RGD:2325761
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOE
apolipoprotein E
susceptibility
IAGP
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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AXIN2
axin 2
disease_progression
IAGP
DNA:SNP::s4791171(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
IEP
mRNA:increased expression:gallbladder
RGD
PMID:18497548
RGD:2324871
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
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CALR
calreticulin
exacerbates
IEP
mRNA, protein:increased expression:gall bladder (human)
RGD
PMID:33591948
RGD:150521682
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CCR5
C-C motif chemokine receptor 5
onset
IAGP
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:18405329
RGD:2317570
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CTNNB1
catenin beta 1
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:10435629 PMID:26822237
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
susceptibility
IAGP
DNA:transition:5' utr:-34T>C rs743572 (human)
RGD
PMID:16381022
RGD:2317619
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
IAGP
DNA:transition: :6235T>C (human) DNA:polymorphism: :p.I462V (human)
RGD
PMID:18287863 PMID:18990008
RGD:2317212 , RGD:2317211
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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DPYD
dihydropyrimidine dehydrogenase
disease_progression
IEP
RGD
PMID:16619549
RGD:2317631
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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EGF
epidermal growth factor
susceptibility
IAGP IEP
DNA:SNP: :+61A>G (rs4444903)(human)
RGD
PMID:18571008 PMID:8093356
RGD:2317641 , RGD:2317646
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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GLI1
GLI family zinc finger 1
disease_progression
IAGP
DNA:SNP::rs2228226(human)
RGD
PMID:26715268
RGD:151356500
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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GSTM1
glutathione S-transferase mu 1
IEP
RGD
PMID:26925680
RGD:14700928
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
IEP
protein:increased expression:gall bladder (human)
RGD
PMID:26318166
RGD:11528126
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KEAP1
kelch like ECH associated protein 1
IAGP
DNA:missense mutations, frameshift mutations:cds:multiple (human)
RGD
PMID:18692501
RGD:6893398
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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KRAS
KRAS proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 PMID:25741868 PMID:26242988 PMID:28492532 PMID:31666701 PMID:35658005 More...
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:10435629 PMID:26822237
NCBI chr 3:41,224,408...41,225,607
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LRP1B
LDL receptor related protein 1B
ameliorates
IAGP
DNA:mutations:multiple: (human)
RGD
PMID:32898339
RGD:150429787
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23946963 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:37712948 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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RBP4
retinol binding protein 4
disease_progression
IEP
associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human)
RGD
PMID:37273108
RGD:329849105
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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RICTOR
RPTOR independent companion of MTOR complex 2
IAGP
DNA:CNV, amplification:exon (human)
RGD
PMID:24508317
RGD:152995522
NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402
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SMAD4
SMAD family member 4
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 PMID:22810475 PMID:23239472 PMID:25931195 PMID:26467025 PMID:26689913 PMID:28492532 PMID:30851333 PMID:31949278 PMID:32561076 PMID:32719554 PMID:34393517 PMID:35982159 PMID:36158166 PMID:36451132 PMID:37319387 More...
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Gallbladder cancer
ClinVar
PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8276238 PMID:8425176 PMID:8527048 PMID:8688334 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11370630 PMID:11782540 PMID:11793474 PMID:12406399 PMID:12506399 PMID:12826609 PMID:14673037 PMID:14743206 PMID:15925506 PMID:15993273 PMID:16199547 PMID:16818505 PMID:16861262 PMID:16969106 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17881637 PMID:18978813 PMID:19378321 PMID:19556618 PMID:19711436 PMID:19714490 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20436704 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21601526 PMID:21665182 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24382691 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25293557 PMID:25544776 PMID:25587027 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26718964 PMID:26787237 PMID:26911350 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28160093 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29324801 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30322717 PMID:30327374 PMID:30720243 PMID:31105275 PMID:31127191 PMID:31742824 PMID:31775759 PMID:32187361 PMID:32817165 PMID:33300245 PMID:33471991 PMID:34240179 PMID:36988593 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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XRCC1
X-ray repair cross complementing 1
susceptibility
IAGP
DNA:polymorphisms: :p.R194W, p.R399Q (human)
RGD
PMID:19266243
RGD:2317128
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
IAGP
RGD
PMID:7795450
RGD:2317512
NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
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ACTR3
actin related protein 3
severity
IEP
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)
RGD
PMID:23320827
RGD:11571623
NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596
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ANTXR1
ANTXR cell adhesion molecule 1
severity
IEP
RGD
PMID:21545221
RGD:9684943
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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BIRC3
baculoviral IAP repeat containing 3
exacerbates
IEP
mRNA:increased expression:gall bladder (human)
RGD
PMID:28295868
RGD:153297817
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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CFL1
cofilin 1
severity
IEP
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)
RGD
PMID:23320827
RGD:11571623
NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
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CLPTM1L
CLPTM1 like
susceptibility
IAGP
DNA:SNP, haplotype: :rs401681(human)
RGD
PMID:29450669
RGD:150530629
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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GPX3
glutathione peroxidase 3
severity
IEP
protein:decreased expression:gallbladder (human)
RGD
PMID:24167362
RGD:151665515
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
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IL10
interleukin 10
susceptibility
IAGP
associated with Cholelithiasis
RGD
PMID:19065724
RGD:2317654
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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MIR155
microRNA 155
disease_progression
IEP
miRNA:increased expression:gall bladder
RGD
PMID:26885061
RGD:21079444
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MTUS1
microtubule associated scaffold protein 1
disease_progression
IEP
RGD
PMID:31882471
RGD:25330344
NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094
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PTCH1
patched 1
disease_progression
IEP
RGD
PMID:22407314
RGD:150523794
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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RAC1
Rac family small GTPase 1
exacerbates
IEP
protein:increased expression:gallbladder (human)
RGD
PMID:21853342
RGD:155230819
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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TERT
telomerase reverse transcriptase
susceptibility
IAGP
DNA:SNP, haplotype: :rs2736100(human)
RGD
PMID:29450669
RGD:150530629
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFA
transforming growth factor alpha
IEP
RGD
PMID:9542514
RGD:2317470
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TJP1
tight junction protein 1
IEP
protein:decreased expression:gallbladder
RGD
PMID:19184677
RGD:2325030
NCBI chr15:29,699,367...29,969,049
Ensembl chr15:29,699,367...29,968,915
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TYMP
thymidine phosphorylase
disease_progression
IEP
RGD
PMID:18946757
RGD:2325157
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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UBR5
ubiquitin protein ligase E3 component n-recognin 5
ameliorates
IMP
human cell line in a mouse model
RGD
PMID:30775814
RGD:151665192
NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
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APC
APC regulator of WNT signaling pathway
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 PMID:17293347 PMID:20685668 PMID:22135120 PMID:27081525 PMID:28492532 PMID:35495172 More...
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOA1
apolipoprotein A1
IEP
mRNA, protein:decreased expression:serum (human)
RGD
PMID:27974108
RGD:25671440
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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ARID1A
AT-rich interaction domain 1A
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:26822237
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ATM
ATM serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 PMID:21665257 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26837699 PMID:27913932 PMID:28492532 PMID:28779002 PMID:29522266 PMID:29659569 PMID:30256826 PMID:30303537 PMID:30995915 PMID:31780696 PMID:32325837 PMID:33128190 PMID:33359728 PMID:33436325 PMID:33471991 PMID:34262154 PMID:34646395 PMID:35264596 PMID:35495172 PMID:35980532 PMID:36099812 PMID:37436117 PMID:39085400 More...
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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AXIN2
axin 2
IEP
protein:increased expression:liver:
RGD
PMID:11809809
RGD:151356508
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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BARD1
BRCA1 associated RING domain 1
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 PMID:35495172 PMID:35534704 PMID:36187937 More...
NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683
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BIVM-ERCC5
BIVM-ERCC5 readthrough
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994
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BRCA2
BRCA2 DNA repair associated
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 PMID:21120943 PMID:21769658 PMID:23056405 PMID:23893897 PMID:24884479 PMID:25085752 PMID:25348012 PMID:25741868 PMID:26467025 PMID:26933808 PMID:27741520 PMID:28492532 PMID:30212499 PMID:31131967 PMID:31911673 PMID:33471991 PMID:33643918 PMID:35039564 PMID:35495172 PMID:35534704 PMID:35980532 More...
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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C11orf65
chromosome 11 open reading frame 65
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 PMID:28492532 PMID:29522266 PMID:33471991 PMID:35495172 PMID:36099812 PMID:39085400 More...
NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
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CDH1
cadherin 1
IEP
protein:increased expression:liver
RGD
PMID:16465411
RGD:14402053
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CLDN1
claudin 1
severity
IEP
mRNA,protein:decreased expression:liver, embryonic tissue (human)
RGD
PMID:16647953
RGD:26884349
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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COL7A1
collagen type VII alpha 1 chain
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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CTNNB1
catenin beta 1
IAGP IEP EXP
ClinVar Annotator: match by term: Hepatoblastoma protein:increased expression:cytoplasm,nucleus: CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:21237236 PMID:23265383 PMID:25741868 PMID:26822237 PMID:10398436 More...
RGD:14402054
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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DHCR7
7-dehydrocholesterol reductase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 PMID:24813812 PMID:25741868 PMID:27401223 PMID:28250423 PMID:28492532 PMID:29300326 More...
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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DIS3L2
DIS3 like 3'-5' exoribonuclease 2
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532 PMID:35495172
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
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DOCK8
dedicator of cytokinesis 8
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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DPEP1
dipeptidase 1
ameliorates
IMP
human cells in mouse model
RGD
PMID:31541079
RGD:153344539
NCBI chr16:89,613,308...89,641,540
Ensembl chr16:89,613,308...89,638,456
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DROSHA
drosha ribonuclease III
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 5:31,400,494...31,532,093
Ensembl chr 5:31,400,494...31,532,196
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EP300
E1A binding protein p300
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC5
ERCC excision repair 5, endonuclease
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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EXT2
exostosin glycosyltransferase 2
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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FAH
fumarylacetoacetate hydrolase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946
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FANCA
FA complementation group A
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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FANCD2
FA complementation group D2
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCD2OS
FANCD2 opposite strand
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255
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FANCM
FA complementation group M
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 PMID:29351780 PMID:32522261 PMID:35495172 More...
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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FAS
Fas cell surface death receptor
IEP IAGP
mRNA,protein:increased expression:hepatocyte: ClinVar Annotator: match by term: Hepatoblastoma
ClinVar RGD
PMID:28492532 PMID:10398166
RGD:14700699
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGFR3
fibroblast growth factor receptor 3
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532 PMID:35495172
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FH
fumarate hydratase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FLCN
folliculin
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172
NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
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FLNA
filamin A
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FRMPD1
FERM and PDZ domain containing 1
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 9:37,603,229...37,746,904
Ensembl chr 9:37,650,954...37,746,904
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GBA1
glucosylceramidase beta 1
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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GLI3
GLI family zinc finger 3
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GPC3
glypican 3
IEP
protein:increased expression:liver (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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IGF2
insulin like growth factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23958494
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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JAG1
jagged canonical Notch ligand 1
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:36965188
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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JMJD1C
jumonji domain containing 1C
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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KDR
kinase insert domain receptor
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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LOC106627981
GBA recombination region
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868
NCBI chr 1:155,233,639...155,240,092
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LOC107303338
3p25 FANCD2 Alu-mediated recombination region
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255
NCBI chr 3:10,030,947...10,078,653
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:23265383 PMID:25741868 PMID:26822237 More...
NCBI chr 3:41,224,408...41,225,607
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MET
MET proto-oncogene, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:27666373 PMID:28492532
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MIR193A
microRNA 193a
exacerbates
HEP
RNA:decreased expression:liver (human)
RGD
PMID:31541079
RGD:153344539
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR21
microRNA 21
IEP
miRNA:increased expression:plasma, extracellular exosome
RGD
PMID:27601233
RGD:14695023
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR34A
microRNA 34a
severity
IEP
miRNA:increased expression:liver
RGD
PMID:27046304
RGD:14695006
NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
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MKI67
marker of proliferation Ki-67
ameliorates
IDA
human cells in mouse model
RGD
PMID:31541079
RGD:153344539
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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MSH2
mutS homolog 2
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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MSH6
mutS homolog 6
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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MUTYH
mutY DNA glycosylase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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NAP1L1
nucleosome assembly protein 1 like 1
IEP
mRNA:increased expression:liver (human)
RGD
PMID:12935928
RGD:9590075
NCBI chr12:76,036,585...76,084,685
Ensembl chr12:76,036,585...76,084,735
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NDRG4
NDRG family member 4
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628
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NYNRIN
NYN domain and retroviral integrase containing
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr14:24,399,003...24,419,283
Ensembl chr14:24,399,003...24,419,283
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PCNA
proliferating cell nuclear antigen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11560253
NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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RECQL
RecQ like helicase
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669
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RECQL4
RecQ like helicase 4
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:28492532
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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REN
renin
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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RHBDF2
rhomboid 5 homolog 2
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr17:76,470,893...76,501,427
Ensembl chr17:76,470,891...76,501,790
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RPS19
ribosomal protein S19
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:12586610 PMID:25741868 PMID:28492532 PMID:37897121
NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925
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SALL1
spalt like transcription factor 1
IEP
embryonal subtype;protein:increased expression:liver, nucleus (human)
RGD
PMID:23822878
RGD:11556217
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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SALL4
spalt like transcription factor 4
IEP
Embryonal Hepatoblastoma;protein:increased expression:liver (human)
RGD
PMID:23822878
RGD:11556217
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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SH2B3
SH2B adaptor protein 3
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:20404132 PMID:25741868
NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623
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SLX4
SLX4 structure-specific endonuclease subunit
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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SMO
smoothened, frizzled class receptor
IEP
protein:increased expression:liver
RGD
PMID:21159571
RGD:150521618
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SPOP
speckle type BTB/POZ protein
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:24912477
RGD:153298925
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
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STK11
serine/threonine kinase 11
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TGFA
transforming growth factor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11560253
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TGFBR2
transforming growth factor beta receptor 2
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 PMID:19556618 PMID:20128691 PMID:20586629 PMID:21343334 PMID:22887876 PMID:23031740 PMID:23259501 PMID:25584008 PMID:25741868 PMID:26467025 PMID:26585234 PMID:26911350 PMID:27189670 PMID:28279309 PMID:28492532 PMID:28975465 PMID:29070607 PMID:29979965 PMID:30224644 PMID:31775759 PMID:32475984 PMID:32817165 PMID:33087929 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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VHL
von Hippel-Lindau tumor suppressor
IAGP
ClinVar Annotator: match by term: Hepatoblastoma
ClinVar
PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:9829912 PMID:10340905 PMID:10567493 PMID:10612827 PMID:10761708 PMID:11106358 PMID:11257211 PMID:11739384 PMID:12056827 PMID:12202531 PMID:12414898 PMID:15177666 PMID:15300849 PMID:19228690 PMID:19574279 PMID:19906784 PMID:20447124 PMID:22234250 PMID:23990664 PMID:23990666 PMID:24033266 PMID:24055113 PMID:24969085 PMID:25637381 PMID:25741868 PMID:26211615 PMID:26467025 PMID:27051783 PMID:27146957 PMID:27527340 PMID:27930734 PMID:28492532 PMID:28503092 PMID:29790589 PMID:29871882 PMID:30877234 PMID:30898898 PMID:30943211 PMID:31087189 PMID:34628056 PMID:35495172 PMID:36175619 PMID:36480544 PMID:36515470 PMID:36813923 PMID:37273678 PMID:37937776 More...
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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ZFHX3
zinc finger homeobox 3
IEP
protein:increased expression:liver (human)
RGD
PMID:33368532
RGD:151361168
NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871
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A2M
alpha-2-macroglobulin
ISO EXP
mRNA,protein:increased expression:liver: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15509519 PMID:15509519
RGD:1358261
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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AADAT
aminoadipate aminotransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:170,060,222...170,094,292
Ensembl chr 4:170,060,222...170,091,699
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ABCA1
ATP binding cassette subfamily A member 1
severity
ISO IEP
mRNA:decreased expression:liver (human)
RGD
PMID:16941710 PMID:30580964
RGD:1598532 , RGD:24922199
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCB1
ATP binding cassette subfamily B member 1
susceptibility
ISO IAGP EXP
DNA:polymorphism: :c.3751G>A(human) DNA:polymorphism: : c.1465C > T(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17510421 PMID:25625052 PMID:24175826 PMID:23488625
RGD:11041138 , RGD:14700905 , RGD:14700904
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCB4
ATP binding cassette subfamily B member 4
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:114550
CTD MouseDO
PMID:22022477
NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435
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ABCC3
ATP binding cassette subfamily C member 3
ISO
mRNA:increased expression:liver
RGD
PMID:25842354
RGD:11535155
NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253
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ABCE1
ATP binding cassette subfamily E member 1
IEP
mRNA:increased expression:liver (human)
RGD
PMID:21932399
RGD:11041873
NCBI chr 4:145,098,311...145,129,524
Ensembl chr 4:145,098,288...145,129,524
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
RGD
PMID:32171747
RGD:126907997
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACACA
acetyl-CoA carboxylase alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr17:37,084,992...37,406,836
Ensembl chr17:37,084,992...37,406,836
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ACE
angiotensin I converting enzyme
susceptibility
EXP IAGP
CTD Direct Evidence: therapeutic DNA:insertion/deletion:intron 16:
CTD RGD
PMID:16328049 PMID:25208933
RGD:11343535
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACER3
alkaline ceramidase 3
disease_progression
IEP
RGD
PMID:30097213
RGD:35673325
NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797
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ACLY
ATP citrate lyase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr17:41,866,917...41,930,545
Ensembl chr17:41,866,917...41,930,542
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ACO2
aconitase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr22:41,469,117...41,528,974
Ensembl chr22:41,447,830...41,529,273
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ACOX1
acyl-CoA oxidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12771043 PMID:15565109
NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
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ACSL4
acyl-CoA synthetase long chain family member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr X:109,641,335...109,733,257
Ensembl chr X:109,624,244...109,733,403
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ACTB
actin beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144 PMID:21472284
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19514085
NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
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ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402
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ADD1
adducin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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ADGRG7
adhesion G protein-coupled receptor G7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:100,609,601...100,695,479
Ensembl chr 3:100,609,601...100,695,479
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ADH4
alcohol dehydrogenase 4 (class II), pi polypeptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:99,123,658...99,144,297
Ensembl chr 4:99,123,657...99,157,792
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ADIPOQ
adiponectin, C1Q and collagen domain containing
susceptibility
IAGP
DNA:SNP:intron:+276T>G (rs1501299) (human)
RGD
PMID:23740135
RGD:14401720
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADRA1A
adrenoceptor alpha 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:26,748,150...26,867,379
Ensembl chr 8:26,748,150...26,867,278
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ADRA2B
adrenoceptor alpha 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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AFP
alpha fetoprotein
severity treatment disease_progression
IEP ISO EXP
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism associated with hepatitis B
CTD RGD
PMID:9029167 PMID:15276417 PMID:24012840 PMID:28284560 PMID:32961231 PMID:22147961 PMID:25999787 PMID:22392353 PMID:25968302 PMID:28611981 More...
RGD:14401581 , RGD:152177911 , RGD:125097525 , RGD:126790583 , RGD:126790579
NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174
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AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:18997814
RGD:127285629
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
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AK3
adenylate kinase 3
IEP
protein:decreased expression:liver
RGD
PMID:17203974
RGD:13842477
NCBI chr 9:4,709,556...4,742,043
Ensembl chr 9:4,709,556...4,742,043
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AKR1A1
aldo-keto reductase family 1 member A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:32805337
NCBI chr 1:45,550,826...45,570,049
Ensembl chr 1:45,550,543...45,570,049
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AKR1B1
aldo-keto reductase family 1 member B
IEP ISO
protein:increased expression:liver (human) protein:increased expression:liver (rat)
RGD
PMID:19422879 PMID:21683810
RGD:8548685 , RGD:5509919
NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284
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AKR1B10
aldo-keto reductase family 1 member B10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 7:134,527,567...134,541,412
Ensembl chr 7:134,527,567...134,541,412
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AKR1C2
aldo-keto reductase family 1 member C2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr10:4,987,775...5,018,000
Ensembl chr10:4,987,775...5,018,031
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AKT1
AKT serine/threonine kinase 1
exacerbates treatment
EXP IEP ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver
CTD RGD
PMID:32045588 PMID:37460115 PMID:25999787 PMID:31801250
RGD:408364960 , RGD:152177911 , RGD:151893509
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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AKT2
AKT serine/threonine kinase 2
ISO
protein:increased phosphorylation:liver cancer cell (rat) protein:increased phosphorylation:liver (mouse)
RGD
PMID:19309364 PMID:28100771
RGD:2313299 , RGD:127285675
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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ALB
albumin
susceptibility
IDA IEP
protein:decreased expression:serum (human) associated with hepatitis C;protein:decreased expression:serum
RGD
PMID:23892757 PMID:22392353 PMID:29040987
RGD:11035269 , RGD:125097525 , RGD:14694841
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALDH2
aldehyde dehydrogenase 2 family member
susceptibility no_association severity
IAGP IEP
associated with alcoholic liver cirrhosis;DNA:missense mutation:cds:p.E487K (human) associated with alcohol use disorder;DNA:missense mutation:cds: (human) DNA:missense mutation:exon 12: (human) associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human) DNA:missense mutation:cds: (rs671) (human) mRNA, protein:decreased expression:liver (human) protein:decreased expression: liver (human) associated with hepatitis C:DNA:SNP:exon 12 (human) DNA:missense mutation:cds, exon 12:p.E487K (human)
RGD
PMID:25778454 PMID:18439068 PMID:10737710 PMID:26827895 PMID:29765251 PMID:28027570 PMID:26150517 PMID:12940444 PMID:1916152 More...
RGD:11054822 , RGD:15042862 , RGD:15042859 , RGD:15042857 , RGD:14700899 , RGD:15036809 , RGD:14696779 , RGD:14696778 , RGD:14696699
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ALDH7A1
aldehyde dehydrogenase 7 family member A1
severity
IEP
mRNA:altered expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
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ALDOC
aldolase, fructose-bisphosphate C
ISO
mRNA:increased expression:liver
RGD
PMID:3830170
RGD:2301136
NCBI chr17:28,573,120...28,576,895
Ensembl chr17:28,573,115...28,576,948
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ALX4
ALX homeobox 4
ameliorates
IEP IDA ISO
mRNA, protein:decreased expression:liver
RGD
PMID:28081728 PMID:31132711 PMID:31132711
RGD:153323329 , RGD:153323330 , RGD:153323330
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ANGPTL6
angiopoietin like 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:10,092,338...10,106,190
Ensembl chr19:10,092,338...10,102,678
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ANK3
ankyrin 3
ISO
protein:decreased expression:liver
RGD
PMID:26652480
RGD:153344559
NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490
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ANLN
anillin, actin binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
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ANTXR1
ANTXR cell adhesion molecule 1
treatment
ISO
RGD
PMID:20650339
RGD:9684932
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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ANXA10
annexin A10
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 4:168,092,537...168,187,736
Ensembl chr 4:168,092,537...168,187,736
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ANXA2
annexin A2
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:33675609
RGD:152999436
NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
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ANXA4
annexin A4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 2:69,643,808...69,827,112
Ensembl chr 2:69,644,425...69,827,112
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ANXA6
annexin A6
disease_progression
IEP
associated with tumor vascularization; protein:decreased expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 5:151,100,706...151,157,779
Ensembl chr 5:151,100,706...151,157,815
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APC
APC regulator of WNT signaling pathway
IAGP ISS EXP IDA
ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar Annotator: match by term: Hepatocellular cancer ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma OMIM:114550 CTD Direct Evidence: marker/mechanism DNA:hypermethylation
ClinVar MouseDO CTD OMIM RGD
PMID:1316610 PMID:8381579 PMID:8381580 PMID:8395941 PMID:9101302 PMID:9536098 PMID:9585611 PMID:9824584 PMID:10713886 PMID:11001924 PMID:11247896 PMID:11317365 PMID:11466687 PMID:11748858 PMID:14961559 PMID:15311282 PMID:15459959 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17576681 PMID:17963004 PMID:18199528 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20685668 PMID:21859464 PMID:21901162 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22703879 PMID:23159591 PMID:23460355 PMID:23484150 PMID:24033266 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25479140 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25925381 PMID:25980754 PMID:26207792 PMID:26447891 PMID:26467025 PMID:26508446 PMID:26530882 PMID:26580448 PMID:26690363 PMID:26845104 PMID:26900293 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27600092 PMID:27852271 PMID:28051113 PMID:28127413 PMID:28135048 PMID:28135145 PMID:28195569 PMID:28492532 PMID:28526081 PMID:28726808 PMID:28828701 PMID:28873162 PMID:29510987 PMID:29641532 PMID:29684080 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30458888 PMID:30897307 PMID:31111538 PMID:31159747 PMID:31175917 PMID:31422818 PMID:31428572 PMID:31937788 PMID:32187665 PMID:32390703 PMID:33294277 PMID:34250417 PMID:34426522 PMID:35189564 PMID:35264596 PMID:37038467 PMID:38136308 PMID:38504345 PMID:28203651 More...
RGD:14402050
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APCS
amyloid P component, serum
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 1:159,587,826...159,588,865
Ensembl chr 1:159,587,826...159,588,865
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
treatment
EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25109342 PMID:33841550
RGD:152998960
NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
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APLN
apelin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:129,645,259...129,654,956
Ensembl chr X:129,645,259...129,654,956
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APOA1
apolipoprotein A1
disease_progression
EXP IEP
CTD Direct Evidence: marker/mechanism associated with hepatitis B; protein:decreased expression:plasma (human)
CTD RGD
PMID:21472284 PMID:31211449 PMID:23935864
RGD:153350082 , RGD:25671438
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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APOA2
apolipoprotein A2
IEP
associated with hepatitis B; mRNA:increased expression:liver
RGD
PMID:31211449
RGD:153350082
NCBI chr 1:161,222,292...161,223,628
Ensembl chr 1:161,222,290...161,223,631
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APOA4
apolipoprotein A4
disease_progression
IEP
associated with hepatitis B;
RGD
PMID:31211449
RGD:153350082
NCBI chr11:116,820,700...116,823,304
Ensembl chr11:116,820,700...116,823,304
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APOC1
apolipoprotein C1
disease_progression
IEP
associated with hepatitis B;
RGD
PMID:31211449
RGD:153350082
NCBI chr19:44,914,325...44,919,346
Ensembl chr19:44,914,247...44,919,349
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APOC2
apolipoprotein C2
IEP
associated with hepatitis B; mRNA:increased expression:liver
RGD
PMID:31211449
RGD:153350082
NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565
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APOC3
apolipoprotein C3
susceptibility disease_progression
IAGP IEP
associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human) associated with hepatitis B;
RGD
PMID:27547913 PMID:31211449
RGD:153344620 , RGD:153350082
NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072
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APOC4
apolipoprotein C4
disease_progression
IEP
associated with hepatitis B;
RGD
PMID:31211449
RGD:153350082
NCBI chr19:44,942,237...44,945,496
Ensembl chr19:44,942,237...44,945,496
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APOE
apolipoprotein E
ISO
protein:increased expression:liver, serum (mouse)
RGD
PMID:21644509
RGD:6903288
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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APOF
apolipoprotein F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:56,360,568...56,362,857
Ensembl chr12:56,360,568...56,362,857
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APRT
adenine phosphoribosyltransferase
ISO
protein:increased activity:hepatoma (rat)
RGD
PMID:6327016
RGD:5135035
NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
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AR
androgen receptor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:18639551
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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ARG1
arginase 1
disease_progression
IDA IEP
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)
RGD
PMID:17210712 PMID:30901224
RGD:4140476 , RGD:152995286
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
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ARHGAP11A
Rho GTPase activating protein 11A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:32,615,144...32,639,941
Ensembl chr15:32,615,144...32,639,941
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ARHGAP44
Rho GTPase activating protein 44
exacerbates
IEP
protein:decreased expression:liver (human)
RGD
PMID:31136984
RGD:401901276
NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
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ARHGEF39
Rho guanine nucleotide exchange factor 39
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:35,659,343...35,665,195
Ensembl chr 9:35,658,875...35,675,866
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ARID1A
AT-rich interaction domain 1A
exacerbates treatment
EXP ISO IMP IEP
CTD Direct Evidence: marker/mechanism human gene in mouse model associated with non-alcoholic steatohepatitis mRNA, protein:decreased expression:liver (human) mRNA, protein:increased expression:liver (human)
CTD RGD
PMID:22561517 PMID:22634756 PMID:22922871 PMID:29136504 PMID:29136504 PMID:26569409 PMID:29113912 PMID:25975202 PMID:26589513 More...
RGD:126790634 , RGD:126790634 , RGD:11344640 , RGD:125097519 , RGD:125097495 , RGD:125097485
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARID1B
AT-rich interaction domain 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22634756
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARID2
AT-rich interaction domain 2
disease_progression exacerbates
EXP IDA IEP IMP
CTD Direct Evidence: marker/mechanism associated with hepatitis B;protein:decreased expression:liver
CTD RGD
PMID:21822264 PMID:22634756 PMID:25701229 PMID:28498550 PMID:27351279 PMID:32071245 More...
RGD:150429631 , RGD:150340712 , RGD:150340711 , RGD:150340708
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARID3A
AT-rich interaction domain 3A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35179300
NCBI chr19:925,732...975,939
Ensembl chr19:925,781...975,939
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ARRB2
arrestin beta 2
treatment
ISO
RGD
PMID:33841550
RGD:152998960
NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499
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ASF1B
anti-silencing function 1B histone chaperone
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:14,119,512...14,136,589
Ensembl chr19:14,119,512...14,136,613
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ASL
argininosuccinate lyase
disease_progression
IEP
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
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ASNS
asparagine synthetase (glutamine-hydrolyzing)
ISO
protein:increased activity:serum (rat)
RGD
PMID:10081
RGD:2316006
NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
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ASPG
asparaginase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr14:104,085,700...104,115,582
Ensembl chr14:104,085,686...104,115,582
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ASPM
assembly factor for spindle microtubules
disease_progression
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28284560 PMID:18676753
RGD:13439743
NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
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ASS1
argininosuccinate synthase 1
disease_progression
IMP IEP
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)
RGD
PMID:12359751 PMID:30901224
RGD:4140479 , RGD:152995286
NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
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ATG101
autophagy related 101
disease_progression
IEP
RGD
PMID:35592424
RGD:153350091
NCBI chr12:52,065,300...52,077,495
Ensembl chr12:52,069,246...52,077,495
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ATG7
autophagy related 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29191453
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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ATM
ATM serine/threonine kinase
exacerbates
EXP HEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human)
CTD RGD
PMID:19919837 PMID:12866955
RGD:126781750
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP5PB
ATP synthase peripheral stalk-membrane subunit b
IEP
associated with hepatitis C
RGD
PMID:18932288
RGD:14696822
NCBI chr 1:111,449,464...111,462,773
Ensembl chr 1:111,448,864...111,462,773
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ATP5PD
ATP synthase peripheral stalk subunit d
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr17:75,038,863...75,046,969
Ensembl chr17:75,038,863...75,046,985
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AURKA
aurora kinase A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337
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AURKB
aurora kinase B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600
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AXIN1
axin 1
disease_progression
IAGP IEP ISO EXP
ClinVar Annotator: match by term: AXIN1-related condition | ClinVar Annotator: match by term: Hepatocellular cancer ClinVar Annotator: match by term: Hepatocellular carcinoma protein:decreased expression:liver (human) associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:10700176 PMID:25741868 PMID:25822088 PMID:28492532 PMID:37582359 PMID:10700176 PMID:31514071 PMID:22960659 PMID:26968103 More...
RGD:1300371 , RGD:150530482 , RGD:150530481 , RGD:14402039
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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AXIN2
axin 2
IEP
protein:increased expression:liver:
RGD
PMID:11809809
RGD:151356508
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
disease_progression
IEP ISO HEP
mRNA:decreased expression:liver associated with hepatitis B;mRNA:decreased expression:liver
RGD
PMID:22625427 PMID:26902423 PMID:26902423 PMID:27993894
RGD:153350130 , RGD:153350133 , RGD:153350133 , RGD:153350132
NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042
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AZIN1
antizyme inhibitor 1
disease_progression
IDA
RNA:increased editing:liver
RGD
PMID:23291631
RGD:14700705
NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864
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BANF1
barrier to autointegration nuclear assembly factor 1
treatment
ISO IEP
mRNA, protein:increased expression:liver (rat) mRNA, protein:increased expression:liver (human)
RGD
PMID:29059470 PMID:29059470 PMID:29059470
RGD:155791679 , RGD:155791679 , RGD:155791679
NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:33841550
RGD:152998960
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCL2
BCL2 apoptosis regulator
treatment
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:28100771 PMID:33841550
RGD:127285675 , RGD:152998960
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BCL2L1
BCL2 like 1
treatment
EXP ISO
CTD Direct Evidence: marker/mechanism|therapeutic mRNA:increased expression:liver (mouse)
CTD RGD
PMID:10629087 PMID:11509945 PMID:33841550 PMID:28100771
RGD:152998960 , RGD:127285675
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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BCO2
beta-carotene oxygenase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:112,175,512...112,218,946
Ensembl chr11:112,175,510...112,224,699
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BCORL1
BCL6 corepressor like 1
disease_progression
IEP
RGD
PMID:29679906 PMID:26879601
RGD:150340705 , RGD:11556159
NCBI chr X:129,980,313...130,058,071
Ensembl chr X:129,981,107...130,058,071
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BHMT
betaine--homocysteine S-methyltransferase
disease_progression
IEP
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 5:79,111,809...79,132,288
Ensembl chr 5:79,111,809...79,132,288
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BHMT2
betaine--homocysteine S-methyltransferase 2
severity
IEP
mRNA:altered expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
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BID
BH3 interacting domain death agonist
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15289866
NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770
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BIRC3
baculoviral IAP repeat containing 3
ameliorates treatment exacerbates
IMP IDA IEP
human cell line in a mouse model mRNA, protein:increased expression:liver (human) associated with hepatitis B;mRNA, protein:increased expression:liver (human)
RGD
PMID:30368883 PMID:30210622 PMID:33310033 PMID:22820591 PMID:22682366
RGD:152998937 , RGD:152999010 , RGD:152998988 , RGD:152998986 , RGD:152998984
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
EXP HEP
CTD Direct Evidence: marker/mechanism|therapeutic mRNA:increased expression:liver (human)
CTD RGD
PMID:16086872 PMID:20514400 PMID:31964418
RGD:153344516
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BIRC7
baculoviral IAP repeat containing 7
exacerbates
HEP
mRNA:increased expression:liver (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
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BLZF1
basic leucine zipper nuclear factor 1
disease_progression
IEP
RGD
PMID:26342799
RGD:14398326
NCBI chr 1:169,368,195...169,396,575
Ensembl chr 1:169,367,970...169,396,540
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BMI1
BMI1 proto-oncogene, polycomb ring finger
treatment
IMP
RGD
PMID:26919246
RGD:14928318
NCBI chr10:22,321,099...22,331,706
Ensembl chr10:22,321,099...22,331,484
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BMPER
BMP binding endothelial regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27222248
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BSG
basigin (Ok blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494
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BTG2
BTG anti-proliferation factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18393292
NCBI chr 1:203,305,519...203,309,602
Ensembl chr 1:203,305,491...203,309,602
G
BUB1
BUB1 mitotic checkpoint serine/threonine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
G
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
G
C14orf180
chromosome 14 open reading frame 180
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr14:104,579,764...104,590,515
Ensembl chr14:104,579,764...104,590,515
G
C3
complement C3
ISO
RGD
PMID:23245919
RGD:11040806
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
G
C9
complement C9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144 PMID:28284560
NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324
G
CA12
carbonic anhydrase 12
disease_progression ameliorates
IEP ISO
mRNA:altered expression:liver
RGD
PMID:35362480 PMID:29900055 PMID:31934040 PMID:35362480
RGD:153352325 , RGD:155226869 , RGD:153352328 , RGD:153352325
NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846
G
CA2
carbonic anhydrase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
G
CA9
carbonic anhydrase 9
IEP
mRNA:altered expression:liver
RGD
PMID:29900055
RGD:155226869
NCBI chr 9:35,673,928...35,681,159
Ensembl chr 9:35,673,928...35,681,159
G
CAB39
calcium binding protein 39
disease_progression
IEP IMP
RGD
PMID:28605041 PMID:28605041
RGD:14398832 , RGD:14398832
NCBI chr 2:230,712,842...230,821,075
Ensembl chr 2:230,712,842...230,821,075
G
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
DNA:amplification:cds (rat) mRNA:increased expression:liver
RGD
PMID:2914957 PMID:7053379 PMID:2888462
RGD:5132587 , RGD:10755426 , RGD:2303530
NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943
G
CADM1
cell adhesion molecule 1
ISO
DNA, mRNA, protein:hypermethylation, decreased expression:promoter, liver
RGD
PMID:17428255
RGD:2289095
NCBI chr11:115,169,236...115,504,415
Ensembl chr11:115,169,218...115,504,957
G
CADM2
cell adhesion molecule 2
disease_progression
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:24240726
RGD:15092075
NCBI chr 3:84,958,989...86,074,429
Ensembl chr 3:84,958,989...86,074,429
G
CALML3
calmodulin like 3
severity
HEP
protein:decreased expression:liver (human)
RGD
PMID:29445139
RGD:151665319
NCBI chr10:5,524,961...5,526,771
Ensembl chr10:5,524,961...5,526,771
G
CALR
calreticulin
exacerbates treatment
IEP IMP IDA
protein:increased expression:liver (human) human cells and recombinant gene in a mouse model
RGD
PMID:27055635 PMID:24997628 PMID:12096119
RGD:150521681 , RGD:150521691 , RGD:150521690
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
G
CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
IEP
RGD
PMID:23651211
RGD:18337283
NCBI chr 1:20,482,391...20,486,210
Ensembl chr 1:20,482,391...20,486,210
G
CAP2
cyclase associated actin cytoskeleton regulatory protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:17,393,595...17,557,780
Ensembl chr 6:17,393,595...17,557,780
G
CAPN3
calpain 3
ISO
mRNA:decreased expression:skeletal muscle
RGD
PMID:10806331
RGD:1600777
NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
G
CARM1
coactivator associated arginine methyltransferase 1
ISO
mRNA,protein:increased expression:liver:
RGD
PMID:23912631
RGD:9586718
NCBI chr19:10,871,553...10,923,075
Ensembl chr19:10,871,553...10,923,075
G
CASP3
caspase 3
treatment
ISO
RGD
PMID:29133031 PMID:33841550
RGD:13782296 , RGD:152998960
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
G
CASP8
caspase 8
severity treatment
IAGP EXP ISO
CTD Direct Evidence: marker/mechanism associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human)
OMIM CTD RGD
PMID:28643196 PMID:29133031
RGD:14695027 , RGD:13782296
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
G
CASP9
caspase 9
treatment
ISO
RGD
PMID:29133031
RGD:13782296
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CAT
catalase
disease_progression
IAGP EXP
associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:33010264 PMID:21907168
RGD:27095879
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
CBFB
core-binding factor subunit beta
IEP
mRNA:decreased expression:liver
RGD
PMID:17094378
RGD:126775147
NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
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CBL
Cbl proto-oncogene
disease_progression
IEP
RGD
PMID:26474280
RGD:11536137
NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
G
CBR1
carbonyl reductase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21056497
NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166
G
CBX2
chromobox 2
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983
G
CBX4
chromobox 4
disease_progression
IDA IEP
protein:increased expression:cytoplasm:
RGD
PMID:24838576 PMID:23943028
RGD:9586738 , RGD:9586739
NCBI chr17:79,833,156...79,839,440
Ensembl chr17:79,833,156...79,839,440
G
CBX7
chromobox 7
IEP
mRNA:decreased expression:liver
RGD
PMID:22041561
RGD:9587355
NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680
G
CCBE1
collagen and calcium binding EGF domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
G
CCL1
C-C motif chemokine ligand 1
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
G
CCL13
C-C motif chemokine ligand 13
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610
G
CCL14
C-C motif chemokine ligand 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:35,983,288...35,986,729
Ensembl chr17:35,983,288...35,987,004
G
CCL2
C-C motif chemokine ligand 2
treatment
IEP IDA ISO
RNA:increased expression:liver
RGD
PMID:27980102 PMID:22402625 PMID:12679798 PMID:27980102
RGD:14995459 , RGD:14995927 , RGD:14995468 , RGD:14995459
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL23
C-C motif chemokine ligand 23
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr17:36,013,058...36,017,972
Ensembl chr17:36,013,056...36,017,972
G
CCL3
C-C motif chemokine ligand 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16284949
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
G
CCL5
C-C motif chemokine ligand 5
treatment susceptibility
ISO IAGP
associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human) DNA:polymorphisms:promoter:-403G>A,-28C>G (human)
RGD
PMID:28011329 PMID:21610221 PMID:22374185
RGD:14995306 , RGD:14995338 , RGD:14995333
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
G
CCN1
cellular communication network factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17699798
NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
G
CCNA1
cyclin A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12029619
NCBI chr13:36,431,517...36,442,870
Ensembl chr13:36,431,520...36,442,870
G
CCNB1
cyclin B1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
G
CCNB2
cyclin B2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:59,105,146...59,125,045
Ensembl chr15:59,105,126...59,125,045
G
CCND1
cyclin D1
susceptibility
IAGP EXP ISO
associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (mouse)
CTD RGD
PMID:12029619 PMID:19919837 PMID:22649188 PMID:25822088 PMID:26189965 PMID:25851350 PMID:28100771 More...
RGD:14401586 , RGD:127285675
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
G
CCND2
cyclin D2
severity susceptibility disease_progression
IEP IAGP IDA
associated with hepatitis B associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human) DNA:hypermethylation:CpG site
RGD
PMID:33320844 PMID:22004425 PMID:31059558 PMID:33320844
RGD:151664743 , RGD:151665169 , RGD:151665109 , RGD:151664743
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
G
CCNE1
cyclin E1
ameliorates
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12029619 PMID:22634754 PMID:17196522 PMID:29551768 PMID:28100771
RGD:2289277 , RGD:153297807 , RGD:127285675
NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
G
CCNF
cyclin F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
G
CCNG1
cyclin G1
severity treatment disease_progression
ISO IEP IMP
protein:decreased expression:liver (human) protein:increased expression:liver (human) human cells in mouse model
RGD
PMID:25431954 PMID:27982046 PMID:22835824 PMID:19584283 PMID:33543294 PMID:23804702 PMID:23804702 PMID:26345095 PMID:24034575 More...
RGD:151356922 , RGD:151361200 , RGD:151361198 , RGD:151356981 , RGD:151356970 , RGD:151356967 , RGD:151356967 , RGD:151356933 , RGD:151356932
NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,448,199
G
CCNG2
cyclin G2
ISO
RGD
PMID:27982046
RGD:151361200
NCBI chr 4:77,157,207...77,170,060
Ensembl chr 4:77,157,207...77,433,388
G
CCR1
C-C motif chemokine receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16284949
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
G
CD163
CD163 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
G
CD274
CD274 molecule
disease_progression
EXP IEP
CTD Direct Evidence: marker/mechanism associated with hepatitis B associated with hepatitis B
CTD RGD
PMID:22396772 PMID:21912640 PMID:30267213
RGD:41410800 , RGD:40818240
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
G
CD276
CD276 molecule
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16217749
NCBI chr15:73,683,944...73,714,514
Ensembl chr15:73,683,966...73,714,514
G
CD34
CD34 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:207,880,972...207,911,125
Ensembl chr 1:207,880,972...207,911,402
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CD40LG
CD40 ligand
ISO
RGD
PMID:19016771
RGD:2313413
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
G
CD5L
CD5 molecule like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:157,827,068...157,841,808
Ensembl chr 1:157,830,911...157,898,256
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CD68
CD68 molecule
severity
IEP
protein:increased expression:liver (human)
RGD
PMID:28656201
RGD:40924686
NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
G
CDC20
cell division cycle 20
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:43,358,981...43,363,203
Ensembl chr 1:43,358,981...43,363,203
G
CDC25C
cell division cycle 25C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
G
CDC45
cell division cycle 45
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
G
CDC6
cell division cycle 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
G
CDCA2
cell division cycle associated 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:25,458,931...25,507,917
Ensembl chr 8:25,459,199...25,507,911
G
CDCA3
cell division cycle associated 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:6,844,798...6,851,286
Ensembl chr12:6,844,793...6,851,292
G
CDCA5
cell division cycle associated 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:65,061,093...65,084,040
Ensembl chr11:65,066,300...65,084,164
G
CDCA8
cell division cycle associated 8
disease_progression
IEP EXP
mRNA:increased expression:liver (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28284560 PMID:35693827
RGD:153344586
NCBI chr 1:37,692,516...37,709,719
Ensembl chr 1:37,692,481...37,709,719
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CDH1
cadherin 1
severity
ISO IEP IDA
DNA:hypermethylation protein:decreased expression:liver mRNA:increased expression:liver
RGD
PMID:17295234 PMID:18837082 PMID:24840851 PMID:30697077 PMID:30697077
RGD:2289638 , RGD:14402047 , RGD:14402046 , RGD:14402045 , RGD:14402045
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
G
CDH13
cadherin 13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18425332 PMID:18553387 PMID:28284560
NCBI chr16:82,626,969...83,800,640
Ensembl chr16:82,626,965...83,800,640
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CDK1
cyclin dependent kinase 1
IEP EXP
protein:increased expression:liver (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28284560 PMID:19136513
RGD:2316317
NCBI chr10:60,778,331...60,794,852
Ensembl chr10:60,778,331...60,794,852
G
CDK12
cyclin dependent kinase 12
exacerbates
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:31519701
RGD:151361172
NCBI chr17:39,461,486...39,567,559
Ensembl chr17:39,461,486...39,567,559
G
CDK13
cyclin dependent kinase 13
onset
IAGP
DNA:amplification: :
RGD
PMID:22912832
RGD:155641228
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
G
CDK14
cyclin dependent kinase 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22922871
NCBI chr 7:90,596,321...91,210,590
Ensembl chr 7:90,466,424...91,210,590
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CDK4
cyclin dependent kinase 4
treatment
EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26189965 PMID:33841550
RGD:152998960
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
G
CDKN1A
cyclin dependent kinase inhibitor 1A
ISS
OMIM:114550
MouseDO
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
G
CDKN1B
cyclin dependent kinase inhibitor 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20698225
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
G
CDKN1C
cyclin dependent kinase inhibitor 1C
severity
IEP
protein:decreased expression:liver (human)
RGD
PMID:26606000
RGD:11354707
NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
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CDKN2A
cyclin dependent kinase inhibitor 2A
severity
IEP EXP IAGP ISO
Protein:decreased expression:liver CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatocellular carcinoma DNA:hypermethylation:exon Protein:increased expression:liver DNA:hypermethylation:promoter
CTD ClinVar RGD
PMID:9185756 PMID:14508519 PMID:25741868 PMID:25780468 PMID:25822088 PMID:26225579 PMID:26467025 PMID:28284560 PMID:28492532 PMID:33010264 PMID:16317707 PMID:11301474 PMID:16317707 PMID:12359353 More...
RGD:1600816 , RGD:8552680 , RGD:1600816 , RGD:1600822
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
G
CDKN2B
cyclin dependent kinase inhibitor 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33010264
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
G
CDKN2C
cyclin dependent kinase inhibitor 2C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:50,960,745...50,974,634
Ensembl chr 1:50,960,745...50,974,634
G
CDKN3
cyclin dependent kinase inhibitor 3
treatment severity
EXP IMP IEP
CTD Direct Evidence: marker/mechanism associated with alcoholism; protein:increased expression:liver protein:decreased expression:liver mRNA:increased expression:liver
CTD RGD
PMID:28284560 PMID:23292002 PMID:23292002 PMID:27314282 PMID:22390936
RGD:15090802 , RGD:15090802 , RGD:15090801 , RGD:15090800
NCBI chr14:54,397,007...54,420,218
Ensembl chr14:54,396,849...54,420,218
G
CDT1
chromatin licensing and DNA replication factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
G
CEBPA
CCAAT enhancer binding protein alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16288022 PMID:21785164
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
G
CEBPB
CCAAT enhancer binding protein beta
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (human)
CTD RGD
PMID:14563831 PMID:30659195
RGD:40903042
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,734...50,192,690
G
CEBPD
CCAAT enhancer binding protein delta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14563831
NCBI chr 8:47,736,913...47,738,164
Ensembl chr 8:47,736,913...47,738,164
G
CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886
G
CENPA
centromere protein A
EXP IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human)
CTD RGD
PMID:28284560 PMID:21956590
RGD:36947377
NCBI chr 2:26,786,056...26,794,589
Ensembl chr 2:26,764,289...26,801,067
G
CENPE
centromere protein E
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
G
CENPF
centromere protein F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574
G
CENPM
centromere protein M
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr22:41,927,196...41,947,152
Ensembl chr22:41,927,514...41,947,152
G
CENPU
centromere protein U
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:184,694,085...184,734,096
Ensembl chr 4:184,694,085...184,734,130
G
CENPW
centromere protein W
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:126,340,115...126,483,320
Ensembl chr 6:126,340,115...126,348,875
G
CEP131
centrosomal protein 131
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:81,189,596...81,222,965
Ensembl chr17:81,189,593...81,222,999
G
CEP164
centrosomal protein 164
susceptibility
IAGP
associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human)
RGD
PMID:22004425
RGD:151665169
NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266
G
CEP55
centrosomal protein 55
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092
G
CES1
carboxylesterase 1
disease_progression
IEP
protein:decreased expression:liver (human) associated with tumor vascularization; protein:decreased expression:liver tumor (human) mRNA, protein:decreased expression:liver tumor (human)
RGD
PMID:24259486 PMID:30901224 PMID:19658107
RGD:152995276 , RGD:152995286 , RGD:152995279
NCBI chr16:55,802,851...55,833,096
Ensembl chr16:55,802,851...55,833,337
G
CETP
cholesteryl ester transfer protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845
G
CFP
complement factor properdin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:47,623,282...47,630,305
Ensembl chr X:47,623,172...47,630,305
G
CHAF1B
chromatin assembly factor 1 subunit B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015
G
CHD4
chromodomain helicase DNA binding protein 4
exacerbates
HEP IEP
mRNA:increased expression:liver (human) protein:increased expression:liver (human)
RGD
PMID:28486105 PMID:32070428 PMID:26095183
RGD:153323299 , RGD:153323308 , RGD:11571740
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
G
CHD5
chromodomain helicase DNA binding protein 5
IEP
mRNA:decreased expression:liver
RGD
PMID:26517514
RGD:11537550
NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321
G
CKAP2L
cytoskeleton associated protein 2 like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
G
CKAP4
cytoskeleton associated protein 4
disease_progression
IEP
associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr12:106,237,881...106,248,020
Ensembl chr12:106,237,881...106,304,279
G
CLDN1
claudin 1
severity
IEP
protein:increased expression:liver (human) associated with liver cirrhosis;protein:increased expression:liver (human) protein:decreased expression:liver (human)
RGD
PMID:24815833 PMID:24696415 PMID:17270214
RGD:26884345 , RGD:26884352 , RGD:26884348
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
G
CLEC1B
C-type lectin domain family 1 member B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:9,993,075...10,001,899
Ensembl chr12:9,985,642...10,013,424
G
CLEC4G
C-type lectin domain family 4 member G
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:7,728,957...7,732,110
Ensembl chr19:7,728,957...7,733,906
G
CLEC4M
C-type lectin domain family 4 member M
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
G
CLPTM1L
CLPTM1 like
susceptibility disease_progression
IAGP
DNA:SNPs::rs401681(human) DNA:SNP: :rs401681(human)
RGD
PMID:25339005 PMID:29042796
RGD:150530496 , RGD:150537100
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
G
CLTRN
collectrin, amino acid transport regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:15,627,318...15,675,644
Ensembl chr X:15,627,318...15,675,012
G
CNDP1
carnosine dipeptidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr18:74,534,500...74,587,212
Ensembl chr18:74,534,500...74,587,212
G
CNTNAP4
contactin associated protein family member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:76,277,401...76,560,757
Ensembl chr16:76,277,278...76,560,757
G
COL15A1
collagen type XV alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:98,943,907...99,070,787
Ensembl chr 9:98,943,179...99,070,787
G
COL18A1
collagen type XVIII alpha 1 chain
severity
ISO
Protein:increased expression
RGD
PMID:15739185
RGD:1600906
NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
G
COLEC10
collectin subfamily member 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455
G
COMT
catechol-O-methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341023
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
G
COPS5
COP9 signalosome subunit 5
severity
EXP IEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human)
CTD RGD
PMID:20698225 PMID:26606000
RGD:11354707
NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783
G
COX7B2
cytochrome c oxidase subunit 7B2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:46,734,827...46,909,245
Ensembl chr 4:46,734,827...46,909,245
G
CP
ceruloplasmin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19229483
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
G
CPEB3
cytoplasmic polyadenylation element binding protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:92,046,692...92,291,233
Ensembl chr10:92,046,692...92,291,078
G
CPS1
carbamoyl-phosphate synthase 1
disease_progression
IEP
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
G
CREBBP
CREB binding protein
IAGP
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA
ClinVar
PMID:26619011
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
G
CRHBP
corticotropin releasing hormone binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:76,953,045...76,981,159
Ensembl chr 5:76,953,045...76,981,158
G
CRP
C-reactive protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF1R
colony stimulating factor 1 receptor
exacerbates severity
HEP IEP IDA
mRNA:increased expression:liver (human) protein:increased expression:liver (human) DNA:hypomethylation protein:increased expression: liver (human) DNA:hypomethylation:promoter (human)
RGD
PMID:20551429 PMID:14969845 PMID:11412385 PMID:32760707 PMID:32724427
RGD:150524279 , RGD:150524302 , RGD:150524301 , RGD:150524286 , RGD:150524282
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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CSF2
colony stimulating factor 2
treatment
ISO
RGD
PMID:12731087
RGD:10450243
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
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CSK
C-terminal Src kinase
IEP
protein:decreased expression:liver
RGD
PMID:9918913
RGD:5134372
NCBI chr15:74,782,080...74,803,197
Ensembl chr15:74,782,080...74,803,197
G
CSMD1
CUB and Sushi multiple domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:2,935,361...4,994,914
Ensembl chr 8:2,935,353...4,994,972
G
CSPG4
chondroitin sulfate proteoglycan 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848
G
CSRNP1
cysteine and serine rich nuclear protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:39,141,855...39,154,641
Ensembl chr 3:39,141,855...39,154,562
G
CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
IEP IAGP
protein:increased expression:CD4+ and CD8+ T cells: DNA:SNPs: :rs231775,rs231725(human)
RGD
PMID:28648905 PMID:23432218
RGD:14398741 , RGD:14398742
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
G
CTNNB1
catenin beta 1
exacerbates severity susceptibility
IAGP IEP EXP
DNA:mutation:exon 3 ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar Annotator: match by term: Hepatocellular cancer ClinVar Annotator: match by term: AXIN1-related condition | ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma DNA:missense mutations:exon 3:multiple (human) DNA:Mutations:exon: protein:increased expression:liver: associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human) associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:10192393 PMID:10435629 PMID:20118494 PMID:21147764 PMID:21903672 PMID:23033978 PMID:24614104 PMID:24728327 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:25822088 PMID:26350204 PMID:26502894 PMID:26619011 PMID:26822237 PMID:27738331 PMID:27915094 PMID:27959697 PMID:28284560 PMID:28333917 PMID:28492532 PMID:28575650 PMID:29682453 PMID:30640974 PMID:31526516 PMID:10435629 PMID:27276713 PMID:19101982 PMID:19101982 PMID:28328801 PMID:26968103 More...
RGD:734850 , RGD:150429592 , RGD:14402052 , RGD:14402052 , RGD:14402040 , RGD:14402039
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CTSB
cathepsin B
ISO
RGD
PMID:15641152
RGD:2315605
NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
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CTSD
cathepsin D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
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CTSL
cathepsin L
ISO
RGD
PMID:15641152
RGD:2315605
NCBI chr 9:87,726,119...87,731,469
Ensembl chr 9:87,724,051...87,731,469
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CUX1
cut like homeobox 1
IEP
mRNA:increased expression:liver (human)
RGD
PMID:30561038
RGD:152985541
NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
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CXCL10
C-X-C motif chemokine ligand 10
disease_progression treatment
IEP ISO
RGD
PMID:28592115 PMID:27245433 PMID:28638480
RGD:27095889 , RGD:27095899 , RGD:27095898
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
G
CXCL11
C-X-C motif chemokine ligand 11
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
G
CXCL12
C-X-C motif chemokine ligand 12
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144 PMID:28284560
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
G
CXCL14
C-X-C motif chemokine ligand 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:135,570,679...135,578,991
Ensembl chr 5:135,570,679...135,579,279
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CXCL8
C-X-C motif chemokine ligand 8
disease_progression susceptibility
IEP EXP IAGP
protein:increased expression:liver (human) CTD Direct Evidence: marker/mechanism|therapeutic DNA:SNPs, haplotype:multiple mRNA:increased expression:liver (human)
CTD RGD
PMID:12432545 PMID:35776891 PMID:26078356 PMID:24381110 PMID:30523154
RGD:11526468 , RGD:26884366 , RGD:26884364
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR4
C-X-C motif chemokine receptor 4
treatment severity
IEP HEP
human cells in mouse model protein:increased expression:liver (human)
RGD
PMID:33574707 PMID:30034941
RGD:151665327 , RGD:151665331
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
G
CYLD
CYLD lysine 63 deubiquitinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21109933
NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
G
CYP17A1
cytochrome P450 family 17 subfamily A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341023
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341023
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
G
CYP1A2
cytochrome P450 family 1 subfamily A member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
ameliorates
HDA
DNA:hypermethylation:promoter: (human)
RGD
PMID:20345479
RGD:151665497
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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CYP26B1
cytochrome P450 family 26 subfamily B member 1
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
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CYP2B6
cytochrome P450 family 2 subfamily B member 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
G
CYP2C19
cytochrome P450 family 2 subfamily C member 19
susceptibility
IAGP
associated with hepatitis C; DNA:polymorphisms: :
RGD
PMID:11021356
RGD:124713413
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
G
CYP2C8
cytochrome P450 family 2 subfamily C member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:95,036,772...95,069,497
Ensembl chr10:95,036,772...95,069,497
G
CYP2E1
cytochrome P450 family 2 subfamily E member 1
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human) associated with alcohol dependence
CTD RGD
PMID:15162526 PMID:29765251 PMID:20364586
RGD:14700899 , RGD:14700882
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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CYP39A1
cytochrome P450 family 39 subfamily A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:46,549,580...46,652,818
Ensembl chr 6:46,549,580...46,652,830
G
CYP4A11
cytochrome P450 family 4 subfamily A member 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:46,929,188...46,941,476
Ensembl chr 1:46,929,177...46,941,484
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DAB2IP
DAB2 interacting protein
severity
IEP
mRNA:decreased expression:liver (human) protein:decreased expression:liver (human)
RGD
PMID:31176165 PMID:22168621
RGD:151665110 , RGD:151665148
NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530
G
DBH
dopamine beta-hydroxylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
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DCAF4L2
DDB1 and CUL4 associated factor 4 like 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:87,870,747...87,874,015
Ensembl chr 8:87,870,747...87,874,015
G
DCN
decorin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217
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DDR1
discoidin domain receptor tyrosine kinase 1
severity
ISO IEP
mRNA:increased expression:liver (human)
RGD
PMID:33173221 PMID:33173221
RGD:151347691 , RGD:151347691
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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DDR2
discoidin domain receptor tyrosine kinase 2
treatment disease_progression
IEP
RGD
PMID:33969575 PMID:26362312
RGD:150429748 , RGD:11086753
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DDX3X
DEAD-box helicase 3 X-linked
exacerbates sexual_dimorphism
ISO IEP
associated with hepatitis B; mRNA,protein:decreased expression:liver (human)
RGD
PMID:30297359 PMID:16301996
RGD:151356499 , RGD:151356660
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
G
DEPDC1
DEP domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:68,474,152...68,497,082
Ensembl chr 1:68,474,152...68,497,221
G
DEPDC1B
DEP domain containing 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:60,596,912...60,700,166
Ensembl chr 5:60,596,912...60,700,190
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DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21725309
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
G
DICER1
dicer 1, ribonuclease III
susceptibility
IAGP
associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human)
RGD
PMID:23868705
RGD:149735346
NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
G
DIPK2B
divergent protein kinase domain 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:45,148,373...45,200,876
Ensembl chr X:45,148,373...45,200,901
G
DIRAS3
DIRAS family GTPase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:68,045,962...68,050,627
Ensembl chr 1:68,045,886...68,051,717
G
DLGAP1-AS2
DLGAP1 antisense RNA 2
severity
IEP
mRNA:increased expression:liver (human)
RGD
PMID:33195697
RGD:152995478
NCBI chr18:3,603,737...3,610,089
Ensembl chr18:3,594,114...3,610,103
G
DLGAP5
DLG associated protein 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr14:55,148,135...55,191,585
Ensembl chr14:55,148,112...55,191,608
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DLK1
delta like non-canonical Notch ligand 1
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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DMGDH
dimethylglycine dehydrogenase
disease_progression
IEP
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 5:78,997,564...79,069,674
Ensembl chr 5:78,997,564...79,236,038
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
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DNASE1L3
deoxyribonuclease 1L3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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DNMT1
DNA methyltransferase 1
ISO
mRNA, protein:increased expression:liver
RGD
PMID:11844796
RGD:2289670
NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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DNMT3A
DNA methyltransferase 3 alpha
IEP ISO
protein:increased expression:liver: mRNA, protein:increased expression:liver
RGD
PMID:15885882 PMID:11844796
RGD:9588598 , RGD:2289670
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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DNMT3B
DNA methyltransferase 3 beta
IEP ISO
mRNA:increased expression:liver: mRNA, protein:increased expression:liver
RGD
PMID:15885882 PMID:11844796
RGD:9588598 , RGD:2289670
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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DPYD
dihydropyrimidine dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18019677
NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000
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DSN1
DSN1 component of MIS12 kinetochore complex
disease_progression
IEP
RGD
PMID:30136646
RGD:27372884
NCBI chr20:36,751,795...36,773,763
Ensembl chr20:36,751,791...36,773,818
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DTL
denticleless E3 ubiquitin protein ligase homolog
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:212,035,748...212,105,013
Ensembl chr 1:212,035,553...212,107,400
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DUXAP9
double homeobox A pseudogene 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34086387
NCBI chr14:19,062,377...19,107,497
Ensembl chr14:19,104,100...19,104,713 Ensembl chr14:19,104,100...19,104,713
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DYNLRB1
dynein light chain roadblock-type 1
IEP
RGD
PMID:11750132
RGD:13208527
NCBI chr20:34,515,602...34,540,958
Ensembl chr20:34,516,395...34,540,958
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DYNLRB2
dynein light chain roadblock-type 2
IEP
RGD
PMID:11750132
RGD:13208527
NCBI chr16:80,540,734...80,550,811
Ensembl chr16:80,540,734...80,550,811
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E2F1
E2F transcription factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12029619 PMID:15565109 PMID:28284560
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
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E2F8
E2F transcription factor 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:19,224,063...19,241,655
Ensembl chr11:19,224,063...19,241,620
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EAF2
ELL associated factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20564326
NCBI chr 3:121,835,209...121,886,526
Ensembl chr 3:121,835,183...121,886,526
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ECM1
extracellular matrix protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
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ECT2
epithelial cell transforming 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:172,750,726...172,829,265
Ensembl chr 3:172,750,682...172,821,474
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EEF2
eukaryotic translation elongation factor 2
exacerbates
HEP
protein:increased expression, increased phosphorylation:liver (human)
RGD
PMID:28060762
RGD:153298915
NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
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EFEMP1
EGF containing fibulin extracellular matrix protein 1
disease_progression
IEP
protein:decreased expression:liver:
RGD
PMID:23936443
RGD:10401793
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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EFTUD2
elongation factor Tu GTP binding domain containing 2
severity ameliorates
IEP IMP
RGD
PMID:34282556 PMID:34282556
RGD:155791664 , RGD:155791664
NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445
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EGF
epidermal growth factor
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism associated with hepatitis B;DNA:SNP:exon: (rs11569017) (human) associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903) (human)
CTD RGD
PMID:9029167 PMID:23790025 PMID:18167406
RGD:14695014 , RGD:14695013
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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EGFR
epidermal growth factor receptor
disease_progression
EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9029167 PMID:11355950
RGD:126781769
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGR1
early growth response 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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EGR2
early growth response 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167
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EHD3
EH domain containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:31,234,152...31,269,451
Ensembl chr 2:31,234,152...31,269,451
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EIF3H
eukaryotic translation initiation factor 3 subunit H
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14578863
NCBI chr 8:116,642,130...116,766,374
Ensembl chr 8:116,642,130...116,766,925
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ENAH
ENAH actin regulator
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35030977
RGD:155791678
NCBI chr 1:225,486,829...225,653,878
Ensembl chr 1:225,486,765...225,653,142
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ENG
endoglin
ISO
protein:increased expression:liver (rat)
RGD
PMID:20368095
RGD:7257538
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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ENO1
enolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190
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EP300
E1A binding protein p300
ISO
protein:increased expression:liver (rat)
RGD
PMID:17083329
RGD:2312274
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPAS1
endothelial PAS domain protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26735578
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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EPCAM
epithelial cell adhesion molecule
severity
IEP
protein:increased expression:liver
RGD
PMID:24616575
RGD:14695007
NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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EPHB1
EPH receptor B1
ISO
protein:increased phosphorylation:liver (mouse)
RGD
PMID:28100771
RGD:127285675
NCBI chr 3:134,795,260...135,260,467
Ensembl chr 3:134,795,260...135,260,467
G
EPHX1
epoxide hydrolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7892276
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
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EPO
erythropoietin
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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EPS8L3
EPS8 signaling adaptor L3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:109,750,080...109,763,923
Ensembl chr 1:109,750,080...109,764,027
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
IEP
RGD
PMID:11355950
RGD:126781769
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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ERBB4
erb-b2 receptor tyrosine kinase 4
IAGP
DNA:insertion/deletion:3'UTR:rs6147150 (human)
RGD
PMID:22294845
RGD:126781763
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:15922480
RGD:155598683
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility disease_progression
IAGP
DNA:SNPs:exon 23: p.K751Q (human) DNA:SNP:cd: 312A>G (human) DNA:SNPs:exon 23: p.K751Q (rs13181) (human) DNA:SNPs:exon 23: p.K751Q (human)
RGD
PMID:19919686 PMID:28927037 PMID:28598207 PMID:25531380
RGD:25671459 , RGD:150530503 , RGD:25671461 , RGD:25671460
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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EREG
epiregulin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35776891
NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749
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ERN1
endoplasmic reticulum to nucleus signaling 1
IDA
DNA:hypomethylation: CpG islands:
RGD
PMID:20165882
RGD:14694974
NCBI chr17:64,039,142...64,130,144
Ensembl chr17:64,039,080...64,130,819
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ERP29
endoplasmic reticulum protein 29
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr12:112,013,426...112,023,449
Ensembl chr12:112,013,348...112,023,449
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ESM1
endothelial cell specific molecule 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:54,977,867...54,985,593
Ensembl chr 5:54,977,867...55,022,671
G
ESR1
estrogen receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144 PMID:28284560
NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
G
ETFA
electron transfer flavoprotein subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730
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EXO1
exonuclease 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:241,847,986...241,889,939
Ensembl chr 1:241,847,967...241,895,148
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
susceptibility
IEP EXP IAGP
mRNA:increased expression:liver (human) CTD Direct Evidence: marker/mechanism DNA:SNPs: :multiple
CTD RGD
PMID:28284560 PMID:34545456 PMID:24211739 PMID:25226601 PMID:24040354 PMID:26517514 More...
RGD:10755339 , RGD:126779608 , RGD:126779595 , RGD:11537550
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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F2
coagulation factor II, thrombin
severity
EXP IEP
CTD Direct Evidence: marker/mechanism associated with liver cirrhosis;protein:altered expression, altered processing:liver (human)
CTD RGD
PMID:2821104 PMID:7620113
RGD:14975114
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FABP5
fatty acid binding protein 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 8:81,280,536...81,284,775
Ensembl chr 8:81,280,536...81,284,777
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FAM111B
FAM111 trypsin like peptidase B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412
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FAM180A
family with sequence similarity 180 member A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:135,729,592...135,748,813
Ensembl chr 7:135,728,348...135,748,813
G
FAM72B
family with sequence similarity 72 member B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:121,167,646...121,184,340
Ensembl chr 1:121,167,646...121,185,539
G
FAM83D
family with sequence similarity 83 member D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:38,926,417...38,953,106
Ensembl chr20:38,926,312...38,953,106
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FANCD2
FA complementation group D2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCI
FA complementation group I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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FAS
Fas cell surface death receptor
treatment
ISO IEP
protein:increased expression:liver:
RGD
PMID:29634416 PMID:30737368 PMID:11274632
RGD:13792608 , RGD:14700700 , RGD:14700677
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
IEP
protein:increased expression:liver:
RGD
PMID:11274632
RGD:14700677
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FASN
fatty acid synthase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14563831 PMID:15543204 PMID:21147110
NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
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FAT1
FAT atypical cadherin 1
disease_progression
HEP
mRNA,protein:increased expression:liver (human)
RGD
PMID:24590895
RGD:151347630
NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
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FATE1
fetal and adult testis expressed 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15580283
NCBI chr X:151,716,035...151,723,194
Ensembl chr X:151,716,035...151,723,194
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FBP1
fructose-bisphosphatase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22039417
NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249
G
FBXL18
F-box and leucine rich repeat protein 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:5,454,425...5,513,809
Ensembl chr 7:5,431,335...5,513,809
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FBXO11
F-box protein 11
exacerbates ameliorates
IEP HEP
mRNA:increased expression:liver (human) protein:increased expression:liver (human)
RGD
PMID:29518611 PMID:29603830 PMID:32657545
RGD:152025259 , RGD:152025266 , RGD:152025263
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
G
FCN2
ficolin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:134,864,144...134,887,523
Ensembl chr 9:134,880,810...134,887,523
G
FCN3
ficolin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824
G
FDFT1
farnesyl-diphosphate farnesyltransferase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr 8:11,795,582...11,839,298
Ensembl chr 8:11,795,573...11,839,395
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FES
FES proto-oncogene, tyrosine kinase
exacerbates
IDA
DNA:hypermethylation:promoter (human)
RGD
PMID:31038805
RGD:153323297
NCBI chr15:90,884,504...90,895,776
Ensembl chr15:90,883,695...90,895,776
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FGF19
fibroblast growth factor 19
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25822088
NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022
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FGF3
fibroblast growth factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25822088
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
G
FGF4
fibroblast growth factor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25822088
NCBI chr11:69,771,022...69,775,341
Ensembl chr11:69,771,022...69,775,341
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FGFR1
fibroblast growth factor receptor 1
treatment
IDA EXP IMP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:36029209 PMID:16452204 PMID:20155451 PMID:21573021
RGD:25330358 , RGD:25440478 , RGD:25440476
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
G
FGFR2
fibroblast growth factor receptor 2
severity
IAGP
associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human)
RGD
PMID:30952770
RGD:38501096
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR4
fibroblast growth factor receptor 4
treatment
IEP
RGD
PMID:32677805
RGD:150520166
NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
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FH
fumarate hydratase
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
PMID:10896297 PMID:15221078 PMID:16876016 PMID:17182618 PMID:18313410 PMID:19151755 PMID:20301679 PMID:21445611 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28747166 More...
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FHIT
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:12112319
RGD:632723
NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
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FLT3
fms related receptor tyrosine kinase 3
ameliorates
IMP
human cells in mouse model
RGD
PMID:27511526
RGD:149735514
NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
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FLVCR1
FLVCR choline and heme transporter 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9029167 PMID:28284560
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
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FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:45,467,996...45,475,179
Ensembl chr19:45,467,995...45,475,179
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FOSL2
FOS like 2, AP-1 transcription factor subunit
IEP
mRNA:increased expression:liver (human)
RGD
PMID:30086463 PMID:32048611
RGD:153344517 , RGD:153344521
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
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FOXA1
forkhead box A1
susceptibility sexual_dimorphism disease_progression
IAGP HEP IEP
DNA:VNTR, SNPs, haplotypes:multiple: protein:decreased expression:liver
RGD
PMID:31400761 PMID:29208003 PMID:25965836
RGD:151665752 , RGD:151665820 , RGD:11054501
NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
G
FOXM1
forkhead box M1
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:114550
CTD MouseDO
PMID:15082532 PMID:17173139 PMID:28284560
NCBI chr12:2,857,680...2,877,174
Ensembl chr12:2,857,680...2,877,174
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FOXO1
forkhead box O1
IEP
mRNA:decreased expression:liver
RGD
PMID:28972178
RGD:14401599
NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
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FOXP1
forkhead box P1
treatment
ISO
RGD
PMID:25156538
RGD:9587823
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
G
FOXP3
forkhead box P3
IEP
protein:increased expression:liver
RGD
PMID:21086571
RGD:38548919
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
G
FOXP4-AS1
FOXP4 antisense RNA 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34545456
NCBI chr 6:41,523,895...41,548,621
Ensembl chr 6:41,436,972...41,562,194
G
FST
follistatin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12203361 PMID:19363144
NCBI chr 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134
G
FTH1
ferritin heavy chain 1
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:9054589
RGD:632698
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
G
FUBP1
far upstream element binding protein 1
exacerbates ameliorates
IEP IMP
mRNA:increased expression:liver (human) associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) human cell line in a mouse model
RGD
PMID:31587040 PMID:25995247 PMID:19637194
RGD:151361188 , RGD:151361196 , RGD:151361194
NCBI chr 1:77,944,055...77,979,501
Ensembl chr 1:77,944,055...77,979,110
G
G6PC1
glucose-6-phosphatase catalytic subunit 1
treatment
IMP
associated with Glycogen Storage Disease IA, human gene in a mouse model
RGD
PMID:28096054
RGD:14695537
NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
G
G6PD
glucose-6-phosphate dehydrogenase
disease_progression
ISO IEP
mRNA:increased expression:liver (human)
RGD
PMID:25473368 PMID:35693827
RGD:10449118 , RGD:153344586
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
G
GABRD
gamma-aminobutyric acid type A receptor subunit delta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16767786 PMID:21472284
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
G
GBA3
glucosylceramidase beta 3 (gene/pseudogene)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:22,692,937...22,819,569
Ensembl chr 4:22,692,914...22,819,575
G
GC
GC vitamin D binding protein
susceptibility
ISO IAGP
protein:increased expression:liver associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human)
RGD
PMID:21683810 PMID:25541958
RGD:5509919 , RGD:14402025
NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
G
GDF15
growth differentiation factor 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20512989
NCBI chr19:18,386,158...18,389,176
Ensembl chr19:18,374,731...18,389,176
G
GDF2
growth differentiation factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23936038 PMID:28284560
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
G
GGT1
gamma-glutamyltransferase 1
disease_progression
IEP
RNA,protein:increased expression, activity:liver: HBV associated
RGD
PMID:11940314 PMID:10572675 PMID:27793641
RGD:14701040 , RGD:14701048 , RGD:14701041
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
G
GHR
growth hormone receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
G
GINS1
GINS complex subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700
G
GJB1
gap junction protein beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17978847
NCBI chr X:71,215,239...71,225,516
Ensembl chr X:71,212,811...71,225,516
G
GJB2
gap junction protein beta 2
ISO
DNA, mRNA:promoter hypermethylation, decreased expression:liver
RGD
PMID:17295234
RGD:2289638
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
G
GLI1
GLI family zinc finger 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26189965
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
G
GLUL
glutamate-ammonia ligase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
G
GMNN
geminin DNA replication inhibitor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
G
GMPS
guanine monophosphate synthase
ISO
protein:increased activity:hepatoma (rat)
RGD
PMID:6861338
RGD:5135537
NCBI chr 3:155,869,430...155,944,020
Ensembl chr 3:155,870,650...155,944,020
G
GNAO1
G protein subunit alpha o1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
G
GNAZ
G protein subunit alpha z
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr22:23,070,519...23,125,032
Ensembl chr22:23,070,519...23,125,032
G
GNMT
glycine N-methyltransferase
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:114550
CTD MouseDO
PMID:19146867 PMID:31086990
NCBI chr 6:42,960,754...42,963,880
Ensembl chr 6:42,960,754...42,963,880
G
GOLM1
golgi membrane protein 1
severity
IEP
protein:increased expression:serum mRNA, protein:increased expression:liver
RGD
PMID:21140449 PMID:21443671
RGD:401827118 , RGD:401827119
NCBI chr 9:86,026,146...86,100,149
Ensembl chr 9:86,026,146...86,100,173
G
GPC1
glypican 1
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 2:240,435,663...240,468,076
Ensembl chr 2:240,435,663...240,468,076
G
GPC3
glypican 3
disease_progression exacerbates severity treatment
EXP IEP HEP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) protein:increased expression:blood serum (human) mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human) mRNA:increased expression:Peripheral Blood (human) protein:increased expression:serum
CTD RGD
PMID:16698587 PMID:28284560 PMID:22883669 PMID:28801286 PMID:27286460 PMID:23558072 PMID:21438004 PMID:25449037 PMID:25449037 PMID:19496787 More...
RGD:243065139 , RGD:243065135 , RGD:243065134 , RGD:243065131 , RGD:243065125 , RGD:14695020 , RGD:14695020 , RGD:14695019
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
G
GPM6A
glycoprotein M6A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:175,632,937...176,002,393
Ensembl chr 4:175,632,934...176,002,664
G
GPR158
G protein-coupled receptor 158
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:25,175,001...25,602,229
Ensembl chr10:25,174,802...25,602,229
G
GPR182
G protein-coupled receptor 182
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:56,994,492...56,998,877
Ensembl chr12:56,994,492...56,998,447
G
GPX1
glutathione peroxidase 1
severity no_association susceptibility
IAGP IGI
associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human) DNA:missense mutation:CDS:p.P198L (human) associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human)
RGD
PMID:26990426 PMID:25894370 PMID:19929244 PMID:16510607
RGD:11533013 , RGD:152998906 , RGD:152995483 , RGD:151708729
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
G
GPX3
glutathione peroxidase 3
severity disease_progression
IEP IDA
mRNA,protein:decreased expression:liver, blood plasma (human) DNA:hypermethylation
RGD
PMID:25333265 PMID:27570561 PMID:25445749
RGD:151665355 , RGD:401827855 , RGD:151665509
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
G
GRB7
growth factor receptor bound protein 7
exacerbates
IEP
protein:increased expression:liver (human)
RGD
PMID:17634422
RGD:151347655
NCBI chr17:39,737,938...39,747,285
Ensembl chr17:39,737,927...39,747,291
G
GSTM1
glutathione S-transferase mu 1
susceptibility no_association
IAGP EXP
DNA:deletion:cds (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7892276 PMID:11859714 PMID:20672314 PMID:20683151
RGD:7488953 , RGD:14700979 , RGD:14700951
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
G
GSTP1
glutathione S-transferase pi 1
EXP IEP
CTD Direct Evidence: marker/mechanism DNA:increased methylation:promoter
CTD RGD
PMID:9029167 PMID:22536438
RGD:14401712
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
G
GSTT1
glutathione S-transferase theta 1
susceptibility no_association
IAGP
DNA:deletion
RGD
PMID:23053942 PMID:20672314 PMID:20683151
RGD:14401714 , RGD:14700979 , RGD:14700951
G
GTSE1
G2 and S-phase expressed 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr22:46,296,870...46,330,810
Ensembl chr22:46,296,870...46,330,810
G
GYS2
glycogen synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:21,532,577...21,604,847
Ensembl chr12:21,536,107...21,604,847
G
H19
H19 imprinted maternally expressed transcript
ISO
mRNA:increased expression:liver
RGD
PMID:17393425
RGD:2306187
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
G
HAMP
hepcidin antimicrobial peptide
EXP IDA IEP
CTD Direct Evidence: marker/mechanism DNA:hypermethylation,hypomethylation:promoter mRNA:decreased expression:liver (human)
CTD RGD
PMID:28284560 PMID:29235098 PMID:29235098
RGD:15042879 , RGD:15042879
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
G
HAO2
hydroxyacid oxidase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:119,368,785...119,394,130
Ensembl chr 1:119,368,779...119,394,130
G
HAVCR1
hepatitis A virus cellular receptor 1
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 5:157,029,413...157,069,407
Ensembl chr 5:157,026,742...157,069,396
G
HAVCR2
hepatitis A virus cellular receptor 2
disease_progression
IAGP
associated with hepatitis B;DNA:SNP: : ���1516 G>T (human)
RGD
PMID:27034168
RGD:40818257
NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
G
HDAC2
histone deacetylase 2
disease_progression
IEP
mRNA:increased expression:liver:
RGD
PMID:24448241
RGD:9590206
NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
G
HDAC4
histone deacetylase 4
IEP
mRNA:increased expression:liver:
RGD
PMID:21837748
RGD:9681451
NCBI chr 2:239,048,168...239,401,649 NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654
G
HERC5
HECT and RLD domain containing E3 ubiquitin protein ligase 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28919514
NCBI chr 4:88,457,119...88,506,163
Ensembl chr 4:88,457,119...88,506,163
G
HFE
homeostatic iron regulator
disease_progression
IAGP IEP
associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:20019189 PMID:29642405
RGD:2317357 , RGD:14746967
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
G
HGF
hepatocyte growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9932610 PMID:11896611
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
G
HGFAC
HGF activator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 4:3,441,005...3,449,486
Ensembl chr 4:3,441,968...3,449,486
G
HHIP
hedgehog interacting protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18559595
NCBI chr 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271
G
HIF1A
hypoxia inducible factor 1 subunit alpha
treatment disease_progression
ISO IEP
protein:increased expression:liver (human)
RGD
PMID:19335982 PMID:31321740 PMID:26078356
RGD:9068886 , RGD:155882550 , RGD:11526468
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
G
HILPDA
hypoxia inducible lipid droplet associated
disease_progression
IEP IMP
mRNA, protein:increased expression:liver (human) mRNA:increased expression:liver (human) human cells in mouse model
RGD
PMID:31142329 PMID:35693827 PMID:30205391 PMID:31142329
RGD:153344574 , RGD:153344586 , RGD:153344577 , RGD:153344574
NCBI chr 7:128,455,878...128,458,418
Ensembl chr 7:128,455,849...128,458,418
G
HJURP
Holliday junction recognition protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:233,836,702...233,854,535
Ensembl chr 2:233,833,416...233,854,566
G
HLA-DPA1
major histocompatibility complex, class II, DP alpha 1
IDA
DNA:hypomethylation: CpG islands:
RGD
PMID:20165882
RGD:14694974
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
G
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
associated with Hepatitis B, Chronic;DNA:SNP: :rs9272105(human) associated with Hepatitis B, Chronic;DNA:SNPs, haplotype: : rs9275572, rs2596542(human)
RGD
PMID:30160782 PMID:24204805
RGD:14398839 , RGD:14401561
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
treatment
IAGP
associated with hepatitis B associated with hepatitis C;DNA:SNPs,haplotypes
RGD
PMID:27288300 PMID:28921602
RGD:14928325 , RGD:14974233
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
HMGB2
high mobility group box 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20851854
NCBI chr 4:173,331,376...173,334,358
Ensembl chr 4:173,331,376...173,334,432
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9207284 PMID:21147110
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
G
HMGCS2
3-hydroxy-3-methylglutaryl-CoA synthase 2
disease_progression
IEP
RGD
PMID:28867541
RGD:14975299
NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905
G
HMMR
hyaluronan mediated motility receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:163,460,632...163,491,941
Ensembl chr 5:163,460,203...163,491,941
G
HMMR-AS1
HMMR antisense RNA 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35179300
NCBI chr 5:163,482,604...163,494,058
Ensembl chr 5:163,483,065...163,494,058
G
HNF1A
HNF1 homeobox A
treatment
IMP
human cell line in mouse model
RGD
PMID:29466992
RGD:14700664
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
G
HNF4A
hepatocyte nuclear factor 4 alpha
ISO IEP
protein:decreased expression:liver:
RGD
PMID:20876809 PMID:20876809
RGD:12904747 , RGD:12904747
NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
G
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
IEP
protein:increased expression:liver (human)
RGD
PMID:23633480
RGD:9685423
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
G
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
IEP ISO
protein:increased expression:liver (human) mRNA:increased expression:liver (rat)
RGD
PMID:20604928 PMID:23633480
RGD:9685422 , RGD:9685423
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
G
HNRNPAB
heterogeneous nuclear ribonucleoprotein A/B
severity
IEP IMP
mRNA:increased expression:liver (human) human gene in a mouse model
RGD
PMID:24638979 PMID:24638979
RGD:10059322 , RGD:10059322
NCBI chr 5:178,204,533...178,211,163
Ensembl chr 5:178,204,533...178,211,163
G
HNRNPD
heterogeneous nuclear ribonucleoprotein D
IEP ISO
protein:increased expression:liver (human) protein:increased expression:liver (rat)
RGD
PMID:20102719 PMID:22318685
RGD:10042969 , RGD:10042977
NCBI chr 4:82,352,498...82,373,991
Ensembl chr 4:82,352,498...82,374,503
G
HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
IEP
protein:increased expression:liver (human)
RGD
PMID:23633480
RGD:9685423
NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784
G
HNRNPL
heterogeneous nuclear ribonucleoprotein L
IDA
associated with Hepatitis B
RGD
PMID:24125732
RGD:9999429
NCBI chr19:38,836,370...38,852,347
Ensembl chr19:38,836,370...38,852,347
G
HOTAIR
HOX transcript antisense RNA
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21327457
NCBI chr12:53,962,312...53,974,954
Ensembl chr12:53,962,308...53,975,055
G
HOXA10
homeobox A10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:27,170,605...27,179,861
Ensembl chr 7:27,170,605...27,180,261
G
HOXA13
homeobox A13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091
G
HOXD9
homeobox D9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:176,122,719...176,124,937
Ensembl chr 2:176,122,719...176,124,937
G
HP
haptoglobin
IEP
protein:increased expression:saliva protein:decreased expression:liver (human)
RGD
PMID:31041878 PMID:24259486
RGD:27095881 , RGD:152995276
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
G
HPRT1
hypoxanthine phosphoribosyltransferase 1
ISO
protein:increased activity:hepatoma (rat)
RGD
PMID:6327016
RGD:5135035
NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513
G
HRAS
HRas proto-oncogene, GTPase
treatment
EXP IAGP ISO IMP IEP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatocellular cancer ClinVar Annotator: match by term: Hepatocellular carcinoma mRNA:increased expression:liver (mouse) human plasmid in a mouse model human cells in a mouse model protein:increased expression:liver (human)
CTD ClinVar RGD
PMID:8200073 PMID:9311599 PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17384584 PMID:17412879 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:20118494 PMID:20301680 PMID:20660566 PMID:20937837 PMID:20979192 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23406027 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27444071 PMID:27517622 PMID:28139825 PMID:28284560 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 PMID:33372952 PMID:34008892 PMID:2219132 PMID:23555816 PMID:10791191 PMID:15806265 More...
RGD:14694810 , RGD:14694809 , RGD:14688055 , RGD:14688054
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HSD3B2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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HSPA5
heat shock protein family A (Hsp70) member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284 PMID:29698666
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
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HSPA9
heat shock protein family A (Hsp70) member 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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HSPB1
heat shock protein family B (small) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813
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HTATIP2
HIV-1 Tat interactive protein 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16799960
NCBI chr11:20,363,714...20,383,782
Ensembl chr11:20,363,685...20,383,782
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HTRA1
HtrA serine peptidase 1
exacerbates disease_progression
IEP
protein:decreased expression:liver (human) mRNA:decreased expression:liver (human)
RGD
PMID:20943460 PMID:26403966
RGD:152985524 , RGD:152985529
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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ICAM1
intercellular adhesion molecule 1
severity
IEP
protein:increased expression:serum
RGD
PMID:26109813
RGD:11056752
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
IEP
RGD
PMID:24716838
RGD:14985249
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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IER2
immediate early response 2
IEP IMP
mRNA, protein:decreased expression:liver (human) human cells in mouse model
RGD
PMID:32009420 PMID:32009420
RGD:153323326 , RGD:153323326
NCBI chr19:13,150,411...13,154,911
Ensembl chr19:13,150,411...13,156,981
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IFNA1
interferon alpha 1
susceptibility
EXP IAGP
CTD Direct Evidence: therapeutic associated with hepatitis B; DNA:SNP:: ( rs1831583) (human)
CTD RGD
PMID:17088986 PMID:17971768 PMID:18665156 PMID:29080269
RGD:21406429
NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
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IFNA2
interferon alpha 2
susceptibility
IAGP
associated with hepatitis B; DNA:SNP:enhancer: (rs649053) (human)
RGD
PMID:29080269
RGD:21406429
NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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IFNG
interferon gamma
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IFNL1
interferon lambda 1
ameliorates
IMP
human protein and cells in mouse model
RGD
PMID:24769671
RGD:126848750
NCBI chr19:39,296,407...39,298,673
Ensembl chr19:39,296,407...39,298,673
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IGBP1
immunoglobulin binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21339737
NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324
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IGF1
insulin like growth factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IGF1R
insulin like growth factor 1 receptor
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype: :
CTD RGD
PMID:17441810 PMID:23958494 PMID:24758241
RGD:14985227
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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IGF2
insulin like growth factor 2
susceptibility
ISO IAGP EXP
associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12532445 PMID:16092956 PMID:17554210 PMID:16750516
RGD:2311523 , RGD:14401723
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
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IGF2BP3
insulin like growth factor 2 mRNA binding protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:23,310,209...23,470,491
Ensembl chr 7:23,310,209...23,470,491
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IGF2R
insulin like growth factor 2 receptor
treatment no_association disease_progression
IAGP IEP EXP
DNA:mutation:G1449V (human) ClinVar Annotator: match by term: Hepatocellular carcinoma associated with hepatitis B virus; mRNA:decreased expression:liver: DNA:loss of heterozygosity,mutations:liver: DNA:loss of heterozygosity:liver protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:9722161 PMID:15057872 PMID:25741868 PMID:7493029 PMID:12736721 PMID:11981765 PMID:30720132 PMID:10347113 PMID:18322954 PMID:29940770 More...
RGD:1624323 , RGD:14985225 , RGD:14985222 , RGD:14985221 , RGD:14985220 , RGD:14985219 , RGD:14985218
NCBI chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
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IGFALS
insulin like growth factor binding protein acid labile subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
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IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
treatment
ISO IEP
protein:decreased expression:liver (human)
RGD
PMID:29551768 PMID:22922425 PMID:24971483 PMID:17292824 PMID:25173965 PMID:22176836 More...
RGD:153297807 , RGD:153305947 , RGD:11079569 , RGD:153305945 , RGD:153305943 , RGD:153297813
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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IKZF1
IKAROS family zinc finger 1
ameliorates
IEP
protein:increased expression:liver (human)
RGD
PMID:25301737
RGD:150540326
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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IL10
interleukin 10
treatment
ISO IAGP
RGD
PMID:23822114 PMID:26890368
RGD:7365006 , RGD:14975171
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12A
interleukin 12A
susceptibility
IAGP
associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human) associated with hepatitis B; DNA:SNP, haplotype:3′UTR :rs568408(human)
RGD
PMID:27819525 PMID:26631030 PMID:20521253
RGD:25440490 , RGD:25440501 , RGD:25440491
NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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IL15RA
interleukin 15 receptor subunit alpha
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
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IL18
interleukin 18
severity disease_progression susceptibility
IAGP IEP
associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human) associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human) DNA:SNP:promoter:-137G>C(rs187238)(human)
RGD
PMID:29341496 PMID:27470888 PMID:27429592 PMID:26893476
RGD:14695526 , RGD:14696663 , RGD:14695540 , RGD:11538094
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
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IL18R1
interleukin 18 receptor 1
IEP ISO
mRNA:decreased expression:liver
RGD
PMID:26893476 PMID:26893476
RGD:11538094 , RGD:11538094
NCBI chr 2:102,355,796...102,398,776
Ensembl chr 2:102,311,529...102,398,777
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IL1B
interleukin 1 beta
susceptibility
IAGP
DNA:polymorphism:promoter:-31T>C (human)
RGD
PMID:21653279
RGD:7401222
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RAP
interleukin 1 receptor accessory protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:190,514,085...190,659,750
Ensembl chr 3:190,514,051...190,659,750
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IL1RN
interleukin 1 receptor antagonist
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL2
interleukin 2
treatment
IDA
RGD
PMID:10933975 PMID:9449371
RGD:8693323 , RGD:14747035
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL21
interleukin 21
IAGP
associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human)
RGD
PMID:25892873
RGD:127285359
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL32
interleukin 32
IEP
associated with hepatitis C, liver cirrhosis:mRNA:increased expression:liver (human)
RGD
PMID:17696935
RGD:150340754
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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IL6
interleukin 6
treatment disease_progression
EXP ISO IAGP
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:liver, blood serum (mouse) DNA:SNP: :rs2069852 (human)
CTD RGD
PMID:17615358 PMID:20818158 PMID:26297436 PMID:27022031 PMID:29486150 PMID:26569409 PMID:27368337 More...
RGD:127285672 , RGD:11344640 , RGD:14975289
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IL6ST
interleukin 6 cytokine family signal transducer
ISO
RGD
PMID:15780071
RGD:1626706
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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ING3
inhibitor of growth family member 3
treatment
ISO
RGD
PMID:25156538
RGD:9587823
NCBI chr 7:120,950,777...120,977,216
Ensembl chr 7:120,950,763...120,977,216
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INMT
indolethylamine N-methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 7:30,752,135...30,757,602
Ensembl chr 7:30,697,985...30,757,602
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INPP4B
inositol polyphosphate-4-phosphatase type II B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29415082
NCBI chr 4:142,023,160...142,846,535
Ensembl chr 4:142,023,160...142,847,432
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INS
insulin
HEP
associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human)
RGD
PMID:33132693
RGD:150340613
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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INS-IGF2
INS-IGF2 readthrough
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209
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INSR
insulin receptor
IEP ISO
mRNA, protein:increased expression:liver (human, rat) human cells in a mouse model
RGD
PMID:23633480 PMID:29610518
RGD:9685423 , RGD:14700930
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IQGAP1
IQ motif containing GTPase activating protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20977743
NCBI chr15:90,388,242...90,502,239
Ensembl chr15:90,388,242...90,502,239
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IQGAP2
IQ motif containing GTPase activating protein 2
EXP ISS
CTD Direct Evidence: marker/mechanism OMIM:114550
CTD MouseDO
PMID:20977743
NCBI chr 5:76,403,285...76,708,132
Ensembl chr 5:76,403,285...76,708,132
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IQGAP3
IQ motif containing GTPase activating protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:156,525,405...156,572,565
Ensembl chr 1:156,525,405...156,572,604
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IRF2
interferon regulatory factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561517
NCBI chr 4:184,387,729...184,474,550
Ensembl chr 4:184,385,702...184,474,558
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IRS1
insulin receptor substrate 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:1311924 PMID:23958494
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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IRS2
insulin receptor substrate 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16127164
NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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ISG15
ISG15 ubiquitin like modifier
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28919514
NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
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ITIH3
inter-alpha-trypsin inhibitor heavy chain 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 3:52,794,796...52,808,797
Ensembl chr 3:52,794,768...52,808,799
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
disease_progression
IEP
associated with hepatitis B;protein:decreased expression:serum
RGD
PMID:24836184
RGD:40903002
NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
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JAG1
jagged canonical Notch ligand 1
IEP
protein:increased expression:liver
RGD
PMID:30660174
RGD:14694832
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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JAK1
Janus kinase 1
IAGP
RGD
PMID:23788652
RGD:150524353
NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754
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JAK2
Janus kinase 2
severity treatment ameliorates exacerbates
IEP ISO
mRNA:decreased expression:liver (human) L-JAK2 KO associated with Diseases of the Aged and non-alcoholic fatty liver disease protein:increased phosphorylation:liver (mouse) protein:increased phosphorylation:liver (human)
RGD
PMID:25420511 PMID:29486150 PMID:28100771 PMID:31393852 PMID:22821478 PMID:22392353 More...
RGD:18182928 , RGD:127285672 , RGD:127285675 , RGD:127285655 , RGD:127285621 , RGD:125097525
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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JDP2
Jun dimerization protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20214788
NCBI chr14:75,426,943...75,474,107
Ensembl chr14:75,427,716...75,474,111
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20214788
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
IEP
associated with HBV;protein:increased expression:liver (human)
RGD
PMID:15927205
RGD:153297768
NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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KAT2B
lysine acetyltransferase 2B
severity
IEP
protein:decreased expression:liver (human)
RGD
PMID:23643089
RGD:9590314
NCBI chr 3:20,040,446...20,154,404
Ensembl chr 3:20,040,446...20,154,404
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KBTBD11
kelch repeat and BTB domain containing 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:1,973,677...2,006,936
Ensembl chr 8:1,973,677...2,006,936
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KCNH1
potassium voltage-gated channel subfamily H member 1
IEP
protein:increased expression:liver (human)
RGD
PMID:17022810
RGD:9693723
NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
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KCNN2
potassium calcium-activated channel subfamily N member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500
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KDM1A
lysine demethylase 1A
severity
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:23236241
RGD:9681002
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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KDM3A
lysine demethylase 3A
IEP
mRNA:increased expression:liver (human)
RGD
PMID:21607773
RGD:9590222
NCBI chr 2:86,437,044...86,492,716
Ensembl chr 2:86,440,647...86,492,716
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KDM5C
lysine demethylase 5C
exacerbates
IEP
protein:increased expression:liver (human)
RGD
PMID:26503415
RGD:11530160
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,277...53,225,422
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KDM6A
lysine demethylase 6A
ameliorates
IMP
human cells in a mouse model
RGD
PMID:32765772
RGD:150429729
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KDM8
lysine demethylase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:27,203,526...27,221,768
Ensembl chr16:27,203,508...27,221,768
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KDR
kinase insert domain receptor
treatment disease_progression
IAGP IEP
DNA:SNPs: :rs1870377, rs2071559, rs2305948 (human) associated with alcoholic liver cirrhosis;DNA:SNP: :1416A>T (human) protein:decreased expression:liver protein:increased expression:liver
RGD
PMID:25182707 PMID:24445728 PMID:23660204 PMID:25333267 PMID:19177438
RGD:126848806 , RGD:126848814 , RGD:126848813 , RGD:126848812 , RGD:126848810
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KIF11
kinesin family member 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
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KIF14
kinesin family member 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751
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KIF15
kinesin family member 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KIF18A
kinesin family member 18A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:28,020,619...28,108,156
Ensembl chr11:28,020,619...28,108,156
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KIF18B
kinesin family member 18B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:44,924,711...44,947,773
Ensembl chr17:44,924,709...44,947,773
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KIF1B
kinesin family member 1B
severity susceptibility
IEP IAGP
mRNA, protein:decreased expression:liver (human) DNA:snp:intron:c.2537+518A>G (rs17401966) (human)
RGD
PMID:26217094 PMID:27122668
RGD:11052488 , RGD:12738461
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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KIF20A
kinesin family member 20A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723
G
KIF23
kinesin family member 23
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427
G
KIF2C
kinesin family member 2C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:44,739,837...44,767,767
Ensembl chr 1:44,739,818...44,767,767
G
KIF4A
kinesin family member 4A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:70,290,104...70,420,886
Ensembl chr X:70,290,104...70,420,886
G
KIFC1
kinesin family member C1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:33,391,461...33,409,896
Ensembl chr 6:33,391,823...33,409,896
G
KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
susceptibility
IAGP
associated with hepatitis C;DNA:deletion, haplotype: (human)
RGD
PMID:25700262
RGD:38676455
G
KLF4
KLF transcription factor 4
disease_progression treatment
IEP IDA
RGD
PMID:22677193 PMID:22677193
RGD:14402023 , RGD:14402023
NCBI chr 9:107,484,852...107,489,769
Ensembl chr 9:107,484,852...107,490,482
G
KLRF1
killer cell lectin like receptor F1
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr12:9,800,052...9,845,005
Ensembl chr12:9,827,481...9,845,007
G
KMT2A
lysine methyltransferase 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22634756
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
G
KMT2B
lysine methyltransferase 2B
IAGP EXP
DNA:insertions, translocations:intron:IVS3, multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22634754 PMID:18320596
RGD:9588597
NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
G
KMT2C
lysine methyltransferase 2C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22634756
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
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KRAS
KRAS proto-oncogene, GTPase
induced
ISO IEP EXP
aflatoxin B1 induced:DNA:transversion,transition mutations:cds: mRNA,protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11286481 PMID:11563603 PMID:8446626 PMID:29275358
RGD:11568697 , RGD:14398750
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KRT18
keratin 18
ISS
OMIM:114550
MouseDO
NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
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LCAT
lecithin-cholesterol acyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131
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LECT2
leukocyte cell derived chemotaxin 2
ameliorates
ISO IMP IEP
protein:increased expression:blood serum (mouse) human cells in mouse model protein:increased expression:blood serum (human)
RGD
PMID:24892551 PMID:21394108 PMID:24892551
RGD:153323333 , RGD:153323335 , RGD:153323333
NCBI chr 5:135,946,904...135,954,983
Ensembl chr 5:135,922,279...135,954,983
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LEP
leptin
susceptibility severity
IAGP IEP
DNA:SNP:enhancer:-2548G>A (rs7799039) (human) protein:increased expression:liver (human)
RGD
PMID:28452232 PMID:18573568
RGD:15039399 , RGD:25330348
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
susceptibility
IAGP
associated with Hepatitis B, Chronic;DNA:missense mutations:cds:p.Q223R, p.K109R (human)
RGD
PMID:23090836
RGD:21079466
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23392203
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
G
LIFR
LIF receptor subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
G
LILRB5
leukocyte immunoglobulin like receptor B5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:54,249,421...54,257,273
Ensembl chr19:54,249,421...54,257,301
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LINC00221
long intergenic non-protein coding RNA 221
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr14:106,482,439...106,495,515
Ensembl chr14:106,482,435...106,521,073
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LOC110806263
TERT 5' regulatory region
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
PMID:28492532 PMID:28677271
NCBI chr 5:1,294,628...1,298,988
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar Annotator: match by term: Hepatocellular cancer
ClinVar
PMID:10192393 PMID:10435629 PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27959697 PMID:28492532 PMID:28575650 More...
NCBI chr 3:41,224,408...41,225,607
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LOC126806659
BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar Annotator: match by term: Hepatocellular cancer
ClinVar
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 PMID:29682453 PMID:31526516 More...
NCBI chr 3:41,233,427...41,234,626
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LOC129994371
ATAC-STARR-seq lymphoblastoid active region 22910
IAGP
ClinVar Annotator: match by term: Hepatocellular cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:112,707,478...112,707,537
G
LOC129997612
ATAC-STARR-seq lymphoblastoid silent region 17757
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
PMID:25741868
NCBI chr 6:159,969,273...159,969,552
G
LOXL3
lysyl oxidase like 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35841383
NCBI chr 2:74,532,258...74,555,702
Ensembl chr 2:74,532,258...74,555,690
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LPA
lipoprotein(a)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
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LPAR1
lysophosphatidic acid receptor 1
ISO
RGD
PMID:19000703
RGD:2317680
NCBI chr 9:110,873,263...111,038,998
Ensembl chr 9:110,873,263...111,038,470
G
LRAT
lecithin retinol acyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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LRP1B
LDL receptor related protein 1B
exacerbates
IEP IAGP
protein:increased expression:liver (human) DNA:mutations:multiple: (human)
RGD
PMID:33324588 PMID:33391418
RGD:150429776 , RGD:150429785
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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LRRC1
leucine rich repeat containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:53,795,005...53,924,125
Ensembl chr 6:53,794,497...53,924,125
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LRRC56
leucine rich repeat containing 56
IAGP
ClinVar Annotator: match by term: Hepatocellular cancer
ClinVar
PMID:16170316 PMID:16372351 PMID:16443854 PMID:16835863 PMID:17601930 PMID:17979197 PMID:18042262 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22317973 PMID:22420426 PMID:23093928 PMID:23751039 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28492532 More...
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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LRRC59
leucine rich repeat containing 59
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr17:50,381,238...50,397,523
Ensembl chr17:50,375,059...50,397,523
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LYVE1
lymphatic vessel endothelial hyaluronan receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:10,556,966...10,568,665
Ensembl chr11:10,556,966...10,611,689
G
LZTR1
leucine zipper like post translational regulator 1
IAGP
DNA:missense mutation:cds, liver (human)
RGD
PMID:28622513
RGD:151893487
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MAD2L1
mitotic arrest deficient 2 like 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560 PMID:39316419
NCBI chr 4:120,055,623...120,066,848
Ensembl chr 4:120,055,623...120,066,858
G
MAGEA1
MAGE family member A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:153,179,284...153,183,880
Ensembl chr X:153,179,284...153,183,880
G
MAGEA3
MAGE family member A3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:152,698,794...152,702,347
Ensembl chr X:152,698,767...152,702,347
G
MAGEA6
MAGE family member A6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:152,766,136...152,769,689
Ensembl chr X:152,766,136...152,769,716
G
MAGEC2
MAGE family member C2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:142,202,342...142,205,290
Ensembl chr X:142,202,342...142,205,290
G
MALAT1
metastasis associated lung adenocarcinoma transcript 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26735578
NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,606...65,508,073
G
MAP2K2
mitogen-activated protein kinase kinase 2
exacerbates
IEP ISO
mRNA:increased expression:liver (human) protein:increased expression:liver, cytosol (rat)
RGD
PMID:33553243 PMID:9397988
RGD:150530475 , RGD:150530477
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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MAP2K4
mitogen-activated protein kinase kinase 4
IEP
protein:decreased expression:liver (human)
RGD
PMID:32850377
RGD:150429765
NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
G
MAP3K1
mitogen-activated protein kinase kinase kinase 1
exacerbates
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:31310010
RGD:150573714
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MAP3K8
mitogen-activated protein kinase kinase kinase 8
ameliorates
ISO
RGD
PMID:26560698
RGD:11342977
NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833
G
MAP4K4
mitogen-activated protein kinase kinase kinase kinase 4
ameliorates treatment severity
IMP IDA
human cell line in a mouse model human recombinant gene and cell line in a mouse model
RGD
PMID:21196414 PMID:31922225 PMID:27010469
RGD:151347673 , RGD:151347839 , RGD:151347674
NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,690
G
MAPK1
mitogen-activated protein kinase 1
IEP
protein:increased expression:liver
RGD
PMID:27468214
RGD:401976278
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK14
mitogen-activated protein kinase 14
treatment exacerbates
ISO
RGD
PMID:25216638 PMID:23271722
RGD:151665347 , RGD:151665348
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511
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MAPK8
mitogen-activated protein kinase 8
ameliorates
IEP
protein:decreased phosphorylation:liver (human)
RGD
PMID:33875785
RGD:150340688
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MAPT
microtubule associated protein tau
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
G
MARCO
macrophage receptor with collagenous structure
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
G
MAT1A
methionine adenosyltransferase 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12060674
NCBI chr10:80,271,820...80,289,658
Ensembl chr10:80,271,820...80,289,658
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MBL2
mannose binding lectin 2
severity susceptibility no_association
IAGP IEP
associated with hepatitis C;DNA:SNP: :221C>G(rs709620)(human) associated with hepatitis B;DNA:SNP:exon: protein:decreased expression:plasma DNA:SNPs:promoter:rs7096206(human) associated with viral hepatitis;DNA:polymorphisms:exon: associated with hepatitis B-related cirrhosis;DNA:SNP: :rs11003123(G>A)(human)
RGD
PMID:21733090 PMID:26857650 PMID:27557564 PMID:25787238 PMID:18221301 PMID:27298104 More...
RGD:14696813 , RGD:14696836 , RGD:14696835 , RGD:14696833 , RGD:14696829 , RGD:14696814
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
MBTPS1
membrane bound transcription factor peptidase, site 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14563831
NCBI chr16:84,053,763...84,116,942
Ensembl chr16:84,053,761...84,116,942
G
MBTPS2
membrane bound transcription factor peptidase, site 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14563831
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
G
MCM10
minichromosome maintenance 10 replication initiation factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:13,161,558...13,211,110
Ensembl chr10:13,161,558...13,211,110
G
MCM2
minichromosome maintenance complex component 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436
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MCM7
minichromosome maintenance complex component 7
susceptibility
IAGP IEP
associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human) associated with hepatitis B;miRNA:increased expression:liver (human)
RGD
PMID:24416400 PMID:27298561
RGD:15042885 , RGD:15042853
NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940
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MCM9
minichromosome maintenance 9 homologous recombination repair factor
ISS
OMIM:114550
MouseDO
NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162
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MDM2
MDM2 proto-oncogene
susceptibility
IAGP
DNA:transversion:promoter:g.-309T>G (human)
RGD
PMID:20019189
RGD:2317357
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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ME1
malic enzyme 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr 6:83,210,402...83,431,051
Ensembl chr 6:83,210,402...83,431,051
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MECP2
methyl-CpG binding protein 2
ISO EXP
mRNA, protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26189965 PMID:11844796
RGD:2289670
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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MED1
mediator complex subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20007298
NCBI chr17:39,404,285...39,451,263
Ensembl chr17:39,404,285...39,451,272
G
MELK
maternal embryonic leucine zipper kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:36,572,895...36,677,682
Ensembl chr 9:36,572,862...36,677,683
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MET
MET proto-oncogene, receptor tyrosine kinase
susceptibility severity
ISO IAGP IEP EXP
protein:increased expression:liver (rat) ClinVar Annotator: match by term: Hepatocellular cancer protein:increased expression:liver (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver, carcinoma (human)
OMIM ClinVar CTD RGD
PMID:21774103 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28259294 PMID:28492532 PMID:29641532 PMID:29684080 PMID:32045588 PMID:34882875 PMID:35264596 PMID:17311762 PMID:29303510 PMID:29303510 PMID:17154373 PMID:9927037 More...
RGD:2317495 , RGD:152995524 , RGD:152995524 , RGD:2317575 , RGD:1600123
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
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MICA
MHC class I polypeptide-related sequence A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499248
NCBI chr 6:31,400,711...31,415,315
Ensembl chr 6:31,399,784...31,415,315
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MIR106B
microRNA 106b
severity disease_progression
IEP
miRNA:decreased expression:liver (human) miRNA:increased expression:liver (human) miRNA:increased expression:serum (human) miRNA:increased expression:plasma (human)
RGD
PMID:28958640 PMID:31406464 PMID:28611524 PMID:25894380
RGD:15042874 , RGD:15042877 , RGD:15042876 , RGD:15042875
NCBI chr 7:100,093,993...100,094,074
Ensembl chr 7:100,093,993...100,094,074
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MIR107
microRNA 107
treatment onset
IEP
RNA:increased expression:liver: RNA:decreased expression:liver:
RGD
PMID:30738047 PMID:28079796 PMID:26191213 PMID:27773820
RGD:14975277 , RGD:14975300 , RGD:11066920 , RGD:14975278
NCBI chr10:89,592,747...89,592,827
Ensembl chr10:89,592,747...89,592,827
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MIR122
microRNA 122
severity
EXP IEP IMP
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:blood (human) protein:decreased expression:liver (human) associated with hepatitis B; miRNA:decreased expression:liver
CTD RGD
PMID:16924677 PMID:27528885 PMID:19584283 PMID:25422324 PMID:25269820
RGD:151361113 , RGD:151356981 , RGD:14401603 , RGD:14394424
NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
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MIR125A
microRNA 125a
treatment severity
ISO IEP
RNA:increased expression:liver:
RGD
PMID:30257386 PMID:29951066 PMID:30257386
RGD:21403677 , RGD:21403679 , RGD:21403677
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
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MIR127
microRNA 127
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:24854842
RGD:152995355
NCBI chr14:100,882,979...100,883,075
Ensembl chr14:100,882,979...100,883,075
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MIR130B
microRNA 130b
severity
IEP
miRNA:increased expression:liver
RGD
PMID:25387077
RGD:14694845
NCBI chr22:21,653,304...21,653,385
Ensembl chr22:21,653,304...21,653,385
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MIR133A1
microRNA 133a-1
disease_progression
IEP IMP
mRNA:decreased expression:liver (human) human cells in mouse model
RGD
PMID:30086463 PMID:30086463
RGD:153344517 , RGD:153344517
NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785
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MIR133B
microRNA 133b
severity
IEP
mRNA:decreased expression:liver(human)
RGD
PMID:30391496
RGD:155804298
NCBI chr 6:52,148,923...52,149,041
Ensembl chr 6:52,148,923...52,149,041
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MIR136
microRNA 136
exacerbates
IEP
RNA:decreased expression:liver (human)
RGD
PMID:28849100
RGD:153345547
NCBI chr14:100,884,702...100,884,783
Ensembl chr14:100,884,702...100,884,783
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MIR139
microRNA 139
IEP
RNA:decreased expression:liver (human)
RGD
PMID:30710422
RGD:153344549
NCBI chr11:72,615,063...72,615,130
Ensembl chr11:72,615,063...72,615,130
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MIR145
microRNA 145
severity
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:30572504
RGD:15039395
NCBI chr 5:149,430,646...149,430,733
Ensembl chr 5:149,430,646...149,430,733
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MIR146A
microRNA 146a
sexual_dimorphism susceptibility
IAGP
associated with hepatitis B;miRNA:SNP:exon: (rs2910164) (human) associated with hepatitis B;miRNA:SNP: (human)
RGD
PMID:18711148 PMID:24615520 PMID:24816919
RGD:126925148 , RGD:126925187 , RGD:126925158
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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MIR150
microRNA 150
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:30205391
RGD:153344577
NCBI chr19:49,500,785...49,500,868
Ensembl chr19:49,500,785...49,500,868
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MIR152
microRNA 152
disease_progression
IEP
miRNA:decreased expression:liver
RGD
PMID:30967300 PMID:26531720
RGD:19165146 , RGD:21066331
NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
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MIR154
microRNA 154
IEP
RNA:decreased expression:liver (human)
RGD
PMID:33195697
RGD:152995478
NCBI chr14:101,059,755...101,059,838
Ensembl chr14:101,059,755...101,059,838
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MIR155
microRNA 155
disease_progression
IEP IAGP IMP
associated with hepatitis C;DNA:SNP: :rs767649 (human) miRNA:increased expression:serum miRNA:decreased expression:peripheral blood mononuclear cell
RGD
PMID:27035278 PMID:27531892 PMID:29528577 PMID:30710754 PMID:28074870 PMID:27035278 More...
RGD:21079433 , RGD:25671465 , RGD:24922222 , RGD:21081523 , RGD:21079477 , RGD:21079433
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR181C
microRNA 181c
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:31114379
RGD:15042894
NCBI chr19:13,874,699...13,874,808
Ensembl chr19:13,874,699...13,874,808
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MIR18A
microRNA 18a
severity
IEP
miRNA:increased expression:liver (human) associated with Hepatitis C, Chronic;miRNA:increased expression:serum (human) associated with hepatitis B;miRNA:increased expression:liver (human)
RGD
PMID:19027010 PMID:29455432 PMID:24975878 PMID:30191950 PMID:30519035
RGD:15039398 , RGD:15039404 , RGD:15039401 , RGD:15039389 , RGD:15039400
NCBI chr13:91,350,751...91,350,821
Ensembl chr13:91,350,751...91,350,821
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MIR18B
microRNA 18b
severity
IEP
miRNA:increased expression:liver (human)
RGD
PMID:23496901
RGD:15039403
NCBI chr X:134,170,041...134,170,111
Ensembl chr X:134,170,041...134,170,111
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MIR193A
microRNA 193a
disease_progression exacerbates
IEP IDA
miRNA:decreased expression:liver (human) DNA:hypomethylation RNA:increased expression:blood serum (human)
RGD
PMID:26263159 PMID:28036298 PMID:32960907 PMID:30710422
RGD:11070076 , RGD:153344564 , RGD:153344563 , RGD:153344549
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR195
microRNA 195
severity
IEP IMP
miRNA:decreased expression:liver (human) miRNA:decreased expression:liver (mouse)
RGD
PMID:25607636 PMID:25607636
RGD:15042896 , RGD:15042896
NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701
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MIR196A2
microRNA 196a-2
susceptibility
IAGP
associated with hepatitis B, chronic; DNA:SNP: : (rs12304647) DNA:SNP: : (rs11614913)
RGD
PMID:24248733 PMID:21692953
RGD:14401594 , RGD:14401595
NCBI chr12:53,991,738...53,991,847
Ensembl chr12:53,991,738...53,991,847
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MIR199B
microRNA 199b
disease_progression
IEP
miRNA:decreased expression:liver
RGD
PMID:30536310
RGD:14694833
NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830
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MIR200B
microRNA 200b
treatment disease_progression
IEP IDA IMP
mRNA:decreased expression:liver DNA:hypermethylation:promoter
RGD
PMID:26919246 PMID:28383782 PMID:28383782 PMID:28383782 PMID:26919246 PMID:26919246 More...
RGD:14928318 , RGD:14928322 , RGD:14928322 , RGD:14928322 , RGD:14928318 , RGD:14928318
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
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MIR20A
microRNA 20a
IEP
associated with Human Viral Hepatitis
RGD
PMID:30623908
RGD:25823145
NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135
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MIR21
microRNA 21
treatment severity
IEP
miRNA:increased expression:liver
RGD
PMID:20447717 PMID:21749846 PMID:24963487
RGD:14695022 , RGD:41404642 , RGD:40925952
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR212
microRNA 212
disease_progression ameliorates
IEP IDA
RGD
PMID:25965836 PMID:25965836
RGD:11054501 , RGD:11054501
NCBI chr17:2,050,271...2,050,380
Ensembl chr17:2,050,271...2,050,380
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MIR22
microRNA 22
severity disease_progression
IEP
in male; RNA:increased expression:liver:
RGD
PMID:23766411 PMID:21750200 PMID:27811373
RGD:14700874 , RGD:14700876 , RGD:14700875
NCBI chr17:1,713,903...1,713,987
Ensembl chr17:1,713,903...1,713,987
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MIR221
microRNA 221
disease_progression treatment
IEP ISO IMP
RGD
PMID:25817558 PMID:31801250 PMID:28096271 PMID:28096271 PMID:28096271 PMID:22009537 PMID:29713162 PMID:29713162 More...
RGD:11086123 , RGD:151893509 , RGD:18337275 , RGD:18337275 , RGD:18337275 , RGD:18337273 , RGD:18337267 , RGD:18337267
NCBI chr X:45,746,157...45,746,266
Ensembl chr X:45,746,157...45,746,266
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MIR222
microRNA 222
disease_progression severity
IEP
RGD
PMID:24124720 PMID:20103675
RGD:151709003 , RGD:151709004
NCBI chr X:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
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MIR223
microRNA 223
disease_progression
ISO IEP
associated with high-fat diet, RNA:increased expression:serum: associated with Chronic Hepatitis B; RNA:decreased expression:serum: associated with Chronic HepatitisC; RNA:decreased expression:serum:
RGD
PMID:30964207 PMID:21229610 PMID:24595450 PMID:25391771 PMID:28982915
RGD:21408549 , RGD:21408591 , RGD:21408583 , RGD:21408580 , RGD:21408578
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
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MIR224
microRNA 224
severity
IEP
miRNA:increased expression:liver (human) miRNA:increased expression:plasma (human) associated with hepatitis B;miRNA:increased expression:liver (human)
RGD
PMID:23922662 PMID:27462777 PMID:24923856 PMID:23913306 PMID:22459148
RGD:18182921 , RGD:18182926 , RGD:18182924 , RGD:18182923 , RGD:18182922
NCBI chr X:151,958,578...151,958,658
Ensembl chr X:151,958,578...151,958,658
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MIR23A
microRNA 23a
IEP
miRNA:increased expression:liver
RGD
PMID:22318941
RGD:14694846
NCBI chr19:13,836,587...13,836,659
Ensembl chr19:13,836,587...13,836,659
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MIR23B
microRNA 23b
IDA
DNA:hypermethylation
RGD
PMID:28036298
RGD:153344564
NCBI chr 9:95,085,208...95,085,304
Ensembl chr 9:95,085,208...95,085,304
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MIR25
microRNA 25
severity
IEP
miRNA:increased expression:liver (human) associated with hepatitis B;miRNA:increased expression:liver (human) associated with hepatitis B;miRNA:increased expression:serum (human)
RGD
PMID:30191950 PMID:27298561 PMID:21098710 PMID:24593846
RGD:15039389 , RGD:15042853 , RGD:15042899 , RGD:15042897
NCBI chr 7:100,093,560...100,093,643
Ensembl chr 7:100,093,560...100,093,643
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MIR27A
microRNA 27a
severity treatment
IMP
human cell line in a mouse model human miRNA and cell line in a mouse model
RGD
PMID:29143999 PMID:30083261
RGD:14696659 , RGD:14696660
NCBI chr19:13,836,440...13,836,517
Ensembl chr19:13,836,440...13,836,517
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MIR29A
microRNA 29a
severity
IEP
associated with hepatitis B;miRNA:increased expression:liver (human)
RGD
PMID:23285022
RGD:15042850
NCBI chr 7:130,876,747...130,876,810
Ensembl chr 7:130,876,747...130,876,810
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MIR302D
microRNA 302d
ameliorates
IMP
Human cells in mouse model
RGD
PMID:28352351
RGD:152998975
NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
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MIR31
microRNA 31
severity
IEP ISO
RNA:decreased expression:liver (human) miRNA:decreased expression:liver (rat) miRNA:decreased expression:liver (human)
RGD
PMID:28623129 PMID:25797269 PMID:25797269
RGD:152998991 , RGD:11085965 , RGD:11085965
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MIR340
microRNA 340
IEP
miRNA:decreased expression:liver
RGD
PMID:27998770
RGD:18936991
NCBI chr 5:180,015,303...180,015,397
Ensembl chr 5:180,015,303...180,015,397
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MIR34A
microRNA 34a
treatment
IMP IEP
human cell line in a mouse model miRNA:decreased expression:liver
RGD
PMID:25217526 PMID:29328457
RGD:14694835 , RGD:14694836
NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
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MIR3663
microRNA 3663
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:33838155
NCBI chr10:117,167,678...117,167,774
Ensembl chr10:117,167,678...117,167,774
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MIR411
microRNA 411
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:30086881
RGD:152999437
NCBI chr14:101,023,325...101,023,420
Ensembl chr14:101,023,325...101,023,420
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MIR432
microRNA 432
disease_progression
IEP IMP
mRNA:decreased expression:liver (human) human cells in mouse model
RGD
PMID:25797263 PMID:30086881 PMID:33675609 PMID:25797263
RGD:11087457 , RGD:152999437 , RGD:152999436 , RGD:11087457
NCBI chr14:100,884,483...100,884,576
Ensembl chr14:100,884,483...100,884,576
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MIR455
microRNA 455
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35286011
NCBI chr 9:114,209,434...114,209,529
Ensembl chr 9:114,209,434...114,209,529
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MIR494
microRNA 494
disease_progression
IEP
RGD
PMID:25820676
RGD:155900754
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
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MIR520B
microRNA 520b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29191453
NCBI chr19:53,701,227...53,701,287
Ensembl chr19:53,701,227...53,701,287
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MIR539
microRNA 539
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:27717846
NCBI chr14:101,047,321...101,047,398
Ensembl chr14:101,047,321...101,047,398
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MIR615
microRNA 615
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22819824
NCBI chr12:54,033,950...54,034,045
Ensembl chr12:54,033,950...54,034,045
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MIR637
microRNA 637
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36029209
NCBI chr19:3,961,414...3,961,512
Ensembl chr19:3,961,414...3,961,512
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MIR665
microRNA 665
disease_progression
IEP IMP IGI
mRNA:increased expression:liver (human) associated with metastasis; human cells in mouse model
RGD
PMID:30237408 PMID:30237408 PMID:30237408
RGD:151361293 , RGD:151361293 , RGD:151361293
NCBI chr14:100,875,033...100,875,104
Ensembl chr14:100,875,033...100,875,104
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MIR766
microRNA 766
IEP IMP
mRNA:decreased expression:liver (human) human cells in mouse model
RGD
PMID:32048611 PMID:32048611
RGD:153344521 , RGD:153344521
NCBI chr X:119,646,738...119,646,848
Ensembl chr X:119,646,738...119,646,848
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MIR769
microRNA 769
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36029209
NCBI chr19:46,018,932...46,019,049
Ensembl chr19:46,018,932...46,019,049
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MIR885
microRNA 885
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:27738331
NCBI chr 3:10,394,489...10,394,562
Ensembl chr 3:10,394,489...10,394,562
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MIR93
microRNA 93
severity
IEP
associated with hepatitis B;miRNA:increased expression:liver (human)
RGD
PMID:27298561 PMID:28592130
RGD:15042853 , RGD:15042900
NCBI chr 7:100,093,768...100,093,847
Ensembl chr 7:100,093,768...100,093,847
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MIR940
microRNA 940
IEP
RNA:decreased expression:liver (human)
RGD
PMID:30710422
RGD:153344549
NCBI chr16:2,271,747...2,271,840
Ensembl chr16:2,271,747...2,271,840
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MIR96
microRNA 96
severity
IEP
miRNA:increased expression:liver (human)
RGD
PMID:28892647 PMID:25813403
RGD:15042901 , RGD:15042902
NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769
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MIRLET7C
microRNA let-7c
IEP
miRNA:decreased expression:liver
RGD
PMID:22289550
RGD:14695021
NCBI chr21:16,539,828...16,539,911
Ensembl chr21:16,539,828...16,539,911
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MKI67
marker of proliferation Ki-67
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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MLXIPL
MLX interacting protein like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MME
membrane metalloendopeptidase
ISO
RGD
PMID:8302012
RGD:13801035
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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MMP14
matrix metallopeptidase 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33010264
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2
matrix metallopeptidase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20084675
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20084675 PMID:21681821
RGD:8547864
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MOGAT2
monoacylglycerol O-acyltransferase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:75,717,838...75,732,953
Ensembl chr11:75,717,838...75,732,958
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MPL
MPL proto-oncogene, thrombopoietin receptor
ISO
human cells in mouse model
RGD
PMID:23157389
RGD:126925755
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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MPO
myeloperoxidase
disease_progression susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-463G>A(human) associated with liver cirrhosis; DNA:SNP:promoter:-463G>A( rs2333227)(human)
CTD RGD
PMID:19731237 PMID:21907168 PMID:19731237
RGD:27095879 , RGD:26923907
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
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MRO
maestro
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr18:50,795,130...50,825,380
Ensembl chr18:50,795,120...50,825,402
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MSH5
mutS homolog 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:31,740,005...31,762,676
Ensembl chr 6:31,739,677...31,762,676
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
ISO
RGD
PMID:2548155
RGD:2302301
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO EXP
mRNA:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:2507335 PMID:2507335
RGD:2302316
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT1A
metallothionein 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17363595 PMID:19363144
NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087
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MT1E
metallothionein 1E
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:56,625,781...56,627,112
Ensembl chr16:56,625,475...56,627,112
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MT1F
metallothionein 1F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:56,657,959...56,659,303
Ensembl chr16:56,657,731...56,660,698
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MT2A
metallothionein 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17363595 PMID:28284560
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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MTBP
MDM2 binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29765550
NCBI chr 8:120,445,419...120,523,636
Ensembl chr 8:120,445,400...120,542,133
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MTDH
metadherin
treatment
IMP
human cells in a mouse model
RGD
PMID:26351209
RGD:11096879
NCBI chr 8:97,644,184...97,730,260
Ensembl chr 8:97,644,184...97,730,260
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MTHFD2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
mRNA:increased expression:liver
RGD
PMID:3878730
RGD:2302305
NCBI chr 2:74,198,615...74,217,565
Ensembl chr 2:74,186,172...74,217,565
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MTHFR
methylenetetrahydrofolate reductase
susceptibility onset disease_progression
IAGP
DNA:SNP,haplotype: :677C>T, 1298A>C(human) DNA:SNPs: :677C>T, 1298A>C(human) DNA:SNP: :1298A>C(human) DNA:SNP: :677C>T(human)
RGD
PMID:17503006 PMID:17659576 PMID:19035314 PMID:23996892
RGD:14696703 , RGD:14696708 , RGD:14696707 , RGD:14696704
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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MTOR
mechanistic target of rapamycin kinase
severity
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver (human)
CTD RGD
PMID:21147110 PMID:25371154
RGD:152995471
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
IAGP
DNA:SNP: :66A>G(human)
RGD
PMID:19035314
RGD:14696707
NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025
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MVK
mevalonate kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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MYBL2
MYB proto-oncogene like 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:43,667,114...43,716,482
Ensembl chr20:43,667,019...43,716,495
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MYC
MYC proto-oncogene, bHLH transcription factor
severity treatment
ISO ISS EXP IEP
OMIM:114550 CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (human) mRNA:increased expression:liver (rat)
MouseDO CTD RGD
PMID:9029167 PMID:12029619 PMID:15565109 PMID:29698666 PMID:21644509 PMID:22434528 PMID:22076107 PMID:22129741 More...
RGD:6903288 , RGD:7241004 , RGD:7240695 , RGD:7240567
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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MYD88
MYD88 innate immune signal transduction adaptor
exacerbates treatment ameliorates
IEP IMP ISO
mRNA:increased expression:liver (human) human gene and cell in a mouse model mouse cell line in a mouse model protein:increased expression:liver (human) human cell line in a mouse model protein, mRNA:decreased expression:liver (human)
RGD
PMID:29022910 PMID:24603331 PMID:31074165 PMID:26985932 PMID:31068809 PMID:32144747 PMID:33575076 PMID:17615358 PMID:28370778 More...
RGD:150520022 , RGD:150530285 , RGD:150524334 , RGD:150524330 , RGD:150524329 , RGD:150524327 , RGD:150521534 , RGD:150521532 , RGD:150520169
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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NAT2
N-acetyltransferase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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NBN
nibrin
IAGP
ClinVar Annotator: match by term: Hepatocellular cancer
ClinVar
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14973119 PMID:15185344 PMID:15279809 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22941933 PMID:23317186 PMID:24033266 PMID:24113799 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:28873162 PMID:29368341 PMID:29419426 PMID:30426508 PMID:31173646 PMID:32295079 PMID:33050356 PMID:33471974 PMID:33471991 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34544220 PMID:35309086 More...
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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NCAPG
non-SMC condensin I complex subunit G
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:17,810,979...17,844,865
Ensembl chr 4:17,810,979...17,844,865
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NCAPH
non-SMC condensin I complex subunit H
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:96,335,766...96,377,091
Ensembl chr 2:96,335,766...96,377,091
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NCOA2
nuclear receptor coactivator 2
exacerbates
ISO
RGD
PMID:28273073 PMID:22556267
RGD:153002573 , RGD:153002576
NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808
G
NDC80
NDC80 kinetochore complex component
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr18:2,571,557...2,616,635
Ensembl chr18:2,571,557...2,616,635
G
NEIL3
nei like DNA glycosylase 3
disease_progression
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (human)
CTD RGD
PMID:28284560 PMID:35693827
RGD:153344586
NCBI chr 4:177,309,874...177,371,268
Ensembl chr 4:177,309,874...177,362,936
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NEK2
NIMA related kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:211,658,256...211,675,621
Ensembl chr 1:211,658,657...211,675,630
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NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
IAGP IEP
DNA, protein:SNP, increased expression:intron, liver protein:decreased expression:liver
RGD
PMID:29130106 PMID:26443326 PMID:27289045
RGD:150530489 , RGD:11076529 , RGD:150530504
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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NFE2L1
NFE2 like bZIP transcription factor 1
ISS
OMIM:114550
MouseDO
NCBI chr17:48,048,359...48,061,545
Ensembl chr17:48,048,329...48,061,545
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NFE2L2
NFE2 like bZIP transcription factor 2
EXP IDA
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22561517 PMID:31546024
RGD:21201310
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NFKB1
nuclear factor kappa B subunit 1
disease_progression treatment
IAGP ISO
associated with Chronic Hepatitis B;DNA:insertion/deletion:3'utr: -94ins/delATTG (rs28720239) (human)
RGD
PMID:19797428 PMID:25999787
RGD:40400751 , RGD:152177911
NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
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NFKBIA
NFKB inhibitor alpha
susceptibility disease_progression
EXP IAGP
CTD Direct Evidence: therapeutic associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human) associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human)
CTD RGD
PMID:22022477 PMID:25223483 PMID:19797428
RGD:40902986 , RGD:40400751
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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NKILA
NF-kappaB interacting lncRNA
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29481769
NCBI chr20:57,710,183...57,712,780
Ensembl chr20:57,710,156...57,712,780
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NKX3-1
NK3 homeobox 1
treatment
IEP IMP
mRNA:decreased expression:liver human gene in a mouse model
RGD
PMID:28972178 PMID:28972178
RGD:14401599 , RGD:14401599
NCBI chr 8:23,678,693...23,682,938
Ensembl chr 8:23,678,697...23,682,938
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NLRC3
NLR family CARD domain containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30081150
NCBI chr16:3,539,033...3,577,403
Ensembl chr16:3,539,033...3,577,403
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NLRC5
NLR family CARD domain containing 5
IEP
protein:increased expression:liver
RGD
PMID:27338800
RGD:15003194
NCBI chr16:56,989,557...57,083,520
Ensembl chr16:56,989,485...57,083,531
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NME1
NME/NM23 nucleoside diphosphate kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428
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NNMT
nicotinamide N-methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536
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NOS2
nitric oxide synthase 2
treatment
ISO
RGD
PMID:25999787
RGD:152177911
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOTCH3
notch receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NR0B2
nuclear receptor subfamily 0 group B member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23811326
NCBI chr 1:26,911,489...26,913,975
Ensembl chr 1:26,911,489...26,913,975
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NR1H2
nuclear receptor subfamily 1 group H member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr19:50,376,457...50,383,388
Ensembl chr19:50,329,653...50,383,388
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NR1H4
nuclear receptor subfamily 1 group H member 4
EXP ISS IMP IEP ISO
CTD Direct Evidence: marker/mechanism OMIM:114550 intestinally expressed human gene in mouse model mRNA:splice variant(s):liver (human)
CTD MouseDO RGD
PMID:23811326 PMID:25496033 PMID:24954587 PMID:23213087 PMID:23811326
RGD:14928334 , RGD:14928330 , RGD:14696796
NCBI chr12:100,473,866...100,564,414
Ensembl chr12:100,473,708...100,564,414
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NRAS
NRAS proto-oncogene, GTPase
disease_progression severity
IGI IAGP
human gene in mouse model mRNA, protein:increased expression:liver (mouse, human)
RGD
PMID:21993994 PMID:30685691
RGD:14696775 , RGD:14696793
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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NRG1
neuregulin 1
disease_progression
IEP
associated with hepatitis C;mRNA:altered expression:liver (human mRNA:increased expression:liver (human)
RGD
PMID:17393520 PMID:27514687
RGD:39456104 , RGD:39456110
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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NRP1
neuropilin 1
disease_progression
IEP
protein:decreased expression:liver
RGD
PMID:25333267
RGD:126848812
NCBI chr10:33,177,493...33,334,667
Ensembl chr10:33,177,492...33,336,262
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NUF2
NUF2 component of NDC80 kinetochore complex
disease_progression treatment
EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28284560 PMID:31933938 PMID:30653265
RGD:28912742 , RGD:28867240
NCBI chr 1:163,321,954...163,355,759
Ensembl chr 1:163,266,576...163,355,764
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NUSAP1
nucleolar and spindle associated protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050
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OIT3
oncoprotein induced transcript 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:72,893,739...72,933,036
Ensembl chr10:72,893,584...72,933,036
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OLFML2A
olfactomedin like 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 9:124,777,133...124,814,882
Ensembl chr 9:124,777,133...124,814,885
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OLFML2B
olfactomedin like 2B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:161,983,192...162,023,869
Ensembl chr 1:161,983,192...162,023,869
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ORC1
origin recognition complex subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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OTC
ornithine transcarbamylase
severity
IEP
mRNA:altered expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr X:38,327,684...38,422,928
Ensembl chr X:38,327,598...38,422,908
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PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
disease_progression
IEP
mRNA,protein:decreased expression:liver:
RGD
PMID:21569763
RGD:12790589
NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615
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PAMR1
peptidase domain containing associated with muscle regeneration 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:35,431,827...35,530,300
Ensembl chr11:35,431,823...35,530,300
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PARK7
Parkinsonism associated deglycase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
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PARP1
poly(ADP-ribose) polymerase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18695907
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PBK
PDZ binding kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:27,809,624...27,837,817
Ensembl chr 8:27,809,624...27,838,082
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PCK1
phosphoenolpyruvate carboxykinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144 PMID:28284560
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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PCLAF
PCNA clamp associated factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:64,364,304...64,387,687
Ensembl chr15:64,364,304...64,387,687
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PCNA
proliferating cell nuclear antigen
treatment
ISO
protein:increased expression:liver:
RGD
PMID:23219601 PMID:25999787
RGD:10448993 , RGD:152177911
NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
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PDCD1
programmed cell death 1
disease_progression
IAGP IEP
associated with hepatitis B;DNA:SNP: : +8669 A>G (human)
RGD
PMID:27034168 PMID:21912640
RGD:40818257 , RGD:41410800
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PDGFB
platelet derived growth factor subunit B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20506153
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDGFRL
platelet derived growth factor receptor like
IAGP EXP
ClinVar Annotator: match by term: Hepatocellular carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:7898930
NCBI chr 8:17,576,433...17,643,144
Ensembl chr 8:17,576,433...17,644,071
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PDIA3
protein disulfide isomerase family A member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279
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PDK4
pyruvate dehydrogenase kinase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28003426
NCBI chr 7:95,583,499...95,596,516
Ensembl chr 7:95,583,499...95,596,516
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PFAS
phosphoribosylformylglycinamidine synthase
IEP
protein:increased expression:liver
RGD
PMID:6722784
RGD:5135276
NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491
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PFN2
profilin 2
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 3:149,964,904...149,970,895
Ensembl chr 3:149,964,904...150,050,788
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PGD
phosphogluconate dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 1:10,399,064...10,420,511
Ensembl chr 1:10,398,592...10,420,511
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PGK1
phosphoglycerate kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr X:78,104,248...78,129,295
Ensembl chr X:77,910,739...78,129,295
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PHB1
prohibitin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr17:49,404,052...49,414,882
Ensembl chr17:49,404,049...49,414,905
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PHF6
PHD finger protein 6
exacerbates
IEP
mRNA:increased expression:liver (human)
RGD
PMID:31329335 PMID:30888215
RGD:155260288 , RGD:155260308
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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PHLDA1
pleckstrin homology like domain family A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:76,025,447...76,031,776
Ensembl chr12:76,025,447...76,031,776
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
treatment susceptibility no_association severity
TAS IAGP EXP ISO
ClinVar Annotator: match by term: Hepatocellular cancer ClinVar Annotator: match by term: Hepatocellular carcinoma CTD Direct Evidence: marker/mechanism DNA:SNPs: :rs17849071,rs17849079(human) DNA:mutation:exon: DNA:mutations:exons:
ClinVar CTD OMIM RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19366826 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:22162582 PMID:22162589 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29758562 PMID:29988677 PMID:30063105 PMID:31536475 PMID:31775759 PMID:33054853 PMID:34008892 PMID:34496175 PMID:35483878 PMID:37667289 PMID:37712948 PMID:39825153 PMID:16847462 PMID:25999787 PMID:26823876 PMID:16331247 PMID:24673525 More...
RGD:2290476 , RGD:152177911 , RGD:11556371 , RGD:14402405 , RGD:14402404
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
treatment
ISO
RGD
PMID:25999787
RGD:152177911
NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,336...138,834,928
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
treatment
ISO
RGD
PMID:31801250 PMID:25999787
RGD:151893509 , RGD:152177911
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PIK3R2
phosphoinositide-3-kinase regulatory subunit 2
treatment
ISO
RGD
PMID:25999787
RGD:152177911
NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540
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PIK3R3
phosphoinositide-3-kinase regulatory subunit 3
treatment
ISO
RGD
PMID:25999787
RGD:152177911
NCBI chr 1:46,040,140...46,174,901
Ensembl chr 1:46,040,140...46,133,036
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PINX1
PIN2 (TERF1) interacting telomerase inhibitor 1
disease_progression
IAGP
associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human)
RGD
PMID:27221889
RGD:152977752
NCBI chr 8:10,764,961...10,839,875
Ensembl chr 8:10,725,399...10,839,847 Ensembl chr 8:10,725,399...10,839,847
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PITPNM3
PITPNM family member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
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PITX1
paired like homeodomain 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
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PKM
pyruvate kinase M1/2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr15:72,199,029...72,231,591
Ensembl chr15:72,199,029...72,231,819
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PKMYT1
protein kinase, membrane associated tyrosine/threonine 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:2,972,808...2,980,446
Ensembl chr16:2,968,024...2,980,479
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PKP1
plakophilin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
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PLAC8
placenta associated 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,059,493...83,137,075
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PLAU
plasminogen activator, urokinase
ISS
OMIM:114550
MouseDO
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PLCG1
phospholipase C gamma 1
ameliorates
IMP
human cell line in a mouse model
RGD
PMID:30623526
RGD:151356937
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
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PLK1
polo like kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:23,678,889...23,690,367
Ensembl chr16:23,677,656...23,690,367
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PLK4
polo like kinase 4
sexual_dimorphism
ISO IEP
DNA:hypermethylation:promoter
RGD
PMID:21324136 PMID:21324136
RGD:27226690 , RGD:27226690
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
treatment
IEP ISO
mRNA, protein:increased expression:liver (human)
RGD
PMID:29059470 PMID:29059470
RGD:155791679 , RGD:155791679
NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420
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PLVAP
plasmalemma vesicle associated protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342
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PLXDC1
plexin domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:39,063,313...39,152,967
Ensembl chr17:39,063,313...39,154,394
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PML
PML nuclear body scaffold
disease_progression ameliorates exacerbates
IEP ISO
protein:increased expression:liver (human) mRNA:increased expression:liver (mouse) associated with hepatitis C
RGD
PMID:11511788 PMID:26118777 PMID:31144474
RGD:41404685 , RGD:41404690 , RGD:41404687
NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
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PMS2
PMS1 homolog 2, mismatch repair system component
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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PNPLA3
patatin like phospholipase domain containing 3
IAGP
associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)
RGD
PMID:21319195
RGD:14981585
NCBI chr22:43,923,805...43,947,582
Ensembl chr22:43,923,792...43,964,488
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PNPT1
polyribonucleotide nucleotidyltransferase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
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POLG
DNA polymerase gamma, catalytic subunit
susceptibility
IAGP
DNA:SNPs:introns: (rs1061316, rs758130) (human)
RGD
PMID:28457473
RGD:15039387
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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PON1
paraoxonase 1
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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POT1
protection of telomeres 1
disease_progression
IAGP
associated with hepatitis B;DNA:SNP: :rs7784168(human)
RGD
PMID:23907815
RGD:152975963
NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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PPARA
peroxisome proliferator activated receptor alpha
susceptibility
IAGP
associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human)
RGD
PMID:19119483
RGD:15042881
NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755
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PPARG
peroxisome proliferator activated receptor gamma
severity
EXP IEP
CTD Direct Evidence: therapeutic protein:decreased expression:liver
CTD RGD
PMID:16374840 PMID:27451128
RGD:14694822
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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PPAT
phosphoribosyl pyrophosphate amidotransferase
ISO
protein:increased activity:hepatoma (rat)
RGD
PMID:6327016
RGD:5135035
NCBI chr 4:56,393,362...56,435,615
Ensembl chr 4:56,393,362...56,435,615
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PPP1R1A
protein phosphatase 1 regulatory inhibitor subunit 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15010824
NCBI chr12:54,579,246...54,588,659
Ensembl chr12:54,575,387...54,588,659
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PPP1R9A
protein phosphatase 1 regulatory subunit 9A
onset
ISO
protein:increased expression:liver (rat)
RGD
PMID:20935162
RGD:10002734
NCBI chr 7:94,907,236...95,296,415
Ensembl chr 7:94,907,202...95,296,415
G
PPP1R9B
protein phosphatase 1 regulatory subunit 9B
severity
IEP
mRNA, protein:decreased expression:liver (human)
RGD
PMID:23591196
RGD:10043803
NCBI chr17:50,133,737...50,150,677
Ensembl chr17:50,133,737...50,150,677
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PPP4R3C
protein phosphatase 4 regulatory subunit 3C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:27,460,207...27,463,341
Ensembl chr X:27,460,207...27,463,341
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PRC1
protein regulator of cytokinesis 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:90,966,040...90,994,535
Ensembl chr15:90,966,040...90,995,629
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PRDM1
PR/SET domain 1
disease_progression
IEP IAGP
associated with hepatitis B; associated with hepatitis B;DNA:SNP: :rs1010273(human)
RGD
PMID:31100710 PMID:31376415
RGD:150530465 , RGD:150530466
NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939
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PRDX1
peroxiredoxin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27517622
NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
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PRDX2
peroxiredoxin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
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PRDX6
peroxiredoxin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:173,477,335...173,488,815
Ensembl chr 1:173,477,330...173,488,815
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
exacerbates
IEP
mRNA:increased expression:liver (human) mRNA:decreased expression:liver (human) protein:increased expression:liver (human)
RGD
PMID:25151370 PMID:31776854 PMID:28000796 PMID:28205209
RGD:151665185 , RGD:151665343 , RGD:151665188 , RGD:151665186
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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PRKN
parkin RBR E3 ubiquitin protein ligase
severity
ISO
protein:decreased expression:liver (human)
RGD
PMID:28862485
RGD:13432206
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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PRL
prolactin
onset
IEP
protein:increased expression:serum (human)
RGD
PMID:22392353
RGD:125097525
NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826
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PROM1
prominin 1
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26569409
RGD:11344640
NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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PTCH1
patched 1
severity disease_progression
IEP
RGD
PMID:18538319 PMID:22911366
RGD:150523837 , RGD:150523842
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTEN
phosphatase and tensin homolog
severity treatment exacerbates
EXP ISS IEP ISO
CTD Direct Evidence: marker/mechanism OMIM:114550 protein:decreased expression:liver (human) associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human) associated with hepatitis B;protein:decreased expression:liver (human)
CTD MouseDO RGD
PMID:27022031 PMID:29303510 PMID:29303510 PMID:31801250 PMID:12115563 PMID:30690477 PMID:12673720 More...
RGD:152995524 , RGD:152995524 , RGD:151893509 , RGD:127285610 , RGD:127285603 , RGD:127285591
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTGS2
prostaglandin-endoperoxide synthase 2
treatment severity susceptibility
ISO IEP IAGP EXP
protein:increased expression:liver, cytosol mRNA,protein:decreased expression:liver DNA:SNP:promoter:-1195A>G (rs689466) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11872629 PMID:12024111 PMID:14563831 PMID:16374840 PMID:17510421 PMID:18373278 PMID:25999787 PMID:15800977 PMID:24759835 PMID:24720952 More...
RGD:2300283 , RGD:152177911 , RGD:14695012 , RGD:14695011 , RGD:14695010
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTH1R
parathyroid hormone 1 receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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PTK2
protein tyrosine kinase 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14578863 PMID:17203219
RGD:2292584
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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PTPN13
protein tyrosine phosphatase non-receptor type 13
disease_progression susceptibility
HEP IAGP
DNA:SNP: :p.Y2081D(human)
RGD
PMID:26801674 PMID:16489062
RGD:152176666 , RGD:152599190
NCBI chr 4:86,594,315...86,815,161
Ensembl chr 4:86,594,315...86,815,171
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PTPRB
protein tyrosine phosphatase receptor type B
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:30237408
RGD:151361293
NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
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PTTG1
PTTG1 regulator of sister chromatid separation, securin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:160,421,855...160,428,744
Ensembl chr 5:160,421,855...160,428,739
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PVT1
Pvt1 oncogene
IEP IGI IMP
mRNA:increased expression:liver (human) human cells in mouse model
RGD
PMID:30205391 PMID:30205391 PMID:30205391
RGD:153344577 , RGD:153344577 , RGD:153344577
NCBI chr 8:127,794,524...128,101,256
Ensembl chr 8:127,794,513...128,188,202
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PYCARD
PYD and CARD domain containing
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17471463
NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450
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PYGL
glycogen phosphorylase L
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:2885971
NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
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PZP
PZP alpha-2-macroglobulin like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:9,136,472...9,208,395
Ensembl chr12:9,148,840...9,208,395
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RAC1
Rac family small GTPase 1
exacerbates
EXP IEP HEP
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) mRNA:increased expression:liver (human)
CTD RGD
PMID:18506888 PMID:20522449 PMID:33482578
RGD:153350129 , RGD:153298967
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RACGAP1
Rac GTPase activating protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:49,989,162...50,033,440
Ensembl chr12:49,976,923...50,033,136
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RAD21
RAD21 cohesin complex component
treatment exacerbates susceptibility
IMP IEP HEP
human cells in a mouse model mRNA:increased expression:liver (human) protein:increased expression:liver (human) associated with hepatitis c, liver cirrhosis;mRNA:increased expression:liver (human)
RGD
PMID:33251678 PMID:32596342 PMID:28434945 PMID:30698808
RGD:150520026 , RGD:150520035 , RGD:150520030 , RGD:150520029
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAD50
RAD50 double strand break repair protein
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
PMID:16385572 PMID:18281469 PMID:19409520 PMID:24894818 PMID:25452441 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29961768 PMID:31159747 PMID:31589614 PMID:32295079 More...
NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349
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RAD52
RAD52 homolog, DNA repair protein
susceptibility onset
IAGP IEP
associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human) mRNA,protein:increased expression:liver (human)
RGD
PMID:24729511 PMID:31719794
RGD:151361199 , RGD:151361207
NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053
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RAD54L
RAD54 like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480
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RARA
retinoic acid receptor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18026104
NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
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RB1
RB transcriptional corepressor 1
treatment
EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12029619 PMID:14961299 PMID:33841550
RGD:152998960
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RBM10
RNA binding motif protein 10
disease_progression
IEP
mRNA:decreased expression:liver
RGD
PMID:32572914
RGD:151356975
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
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RCAN1
regulator of calcineurin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr21:34,516,442...34,615,113
Ensembl chr21:34,513,142...34,615,113
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RECQL
RecQ like helicase
disease_progression
IMP IEP
protein:increased expression:liver
RGD
PMID:18422747 PMID:18422747
RGD:2317370 , RGD:2317370
NCBI chr12:21,468,910...21,501,635
Ensembl chr12:21,468,910...21,501,669
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REG3A
regenerating family member 3 alpha
IEP
mRNA:increased expression:liver (human)
RGD
PMID:10550309
RGD:9831380
NCBI chr 2:79,157,006...79,159,753
Ensembl chr 2:79,157,003...79,159,753
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RET
ret proto-oncogene
severity
HEP IAGP
protein:increased expression:liver (human) ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar RGD
PMID:7784092 PMID:7845675 PMID:7911697 PMID:8807338 PMID:8918855 PMID:9111992 PMID:9242375 PMID:9263528 PMID:9506724 PMID:10445857 PMID:11230481 PMID:12116277 PMID:14715928 PMID:15184865 PMID:15271413 PMID:15855933 PMID:16736292 PMID:17047083 PMID:17097365 PMID:18062802 PMID:25810047 PMID:26046350 PMID:26467025 PMID:28492532 PMID:29656518 PMID:33340421 PMID:28350084 More...
RGD:150340602
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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RGN
regucalcin
ISO
protein:decreased expression:liver
RGD
PMID:21683810
RGD:5509919
NCBI chr X:47,078,443...47,093,313
Ensembl chr X:47,078,355...47,093,314
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RICTOR
RPTOR independent companion of MTOR complex 2
severity
IEP ISO
mRNA, protein:increased expression:liver (human)
RGD
PMID:25371154 PMID:29303510
RGD:152995471 , RGD:152995524
NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402
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RIT1
Ras like without CAAX 1
ameliorates
IMP
human cells in mouse model
RGD
PMID:31247273
RGD:152999016
NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
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RND3
Rho family GTPase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:150,468,193...150,487,695
Ensembl chr 2:150,468,195...150,539,011
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RNF157
ring finger protein 157
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:76,142,474...76,240,493
Ensembl chr17:76,142,465...76,240,493
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RNF43
ring finger protein 43
exacerbates
IMP
human cells in a mouse model
RGD
PMID:23136185
RGD:151361219
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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RNF6
ring finger protein 6
disease_progression
IEP
RGD
PMID:30496760
RGD:151665757
NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
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ROBO1
roundabout guidance receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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RPS6
ribosomal protein S6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236
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RPS6KA3
ribosomal protein S6 kinase A3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561517
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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RRM1
ribonucleotide reductase catalytic subunit M1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230555
NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932
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RRM2
ribonucleotide reductase regulatory subunit M2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230555 PMID:28284560
NCBI chr 2:10,122,568...10,211,010
Ensembl chr 2:10,120,698...10,211,725
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RSPO3
R-spondin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:127,118,671...127,199,481
Ensembl chr 6:127,118,671...127,199,481
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RTKN
rhotekin
IEP
mRNA:increased expression:liver
RGD
PMID:27922690
RGD:19165144
NCBI chr 2:74,425,835...74,441,937
Ensembl chr 2:74,425,835...74,442,422
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RTP3
receptor transporter protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17693185
NCBI chr 3:46,497,976...46,500,950
Ensembl chr 3:46,494,611...46,500,950
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RUNX1
RUNX family transcription factor 1
IEP
mRNA:decreased expression:liver
RGD
PMID:17094378
RGD:126775147
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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RUNX3
RUNX family transcription factor 3
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:decreased expression:liver
CTD RGD
PMID:28458013 PMID:17094378
RGD:126775147
NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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RYR3
ryanodine receptor 3
disease_progression
IAGP
DNA:SNP:3'UTR:rs1044129(human)
RGD
PMID:26309413
RGD:155882454
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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S100A9
S100 calcium binding protein A9
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 1:153,357,854...153,361,023
Ensembl chr 1:153,357,854...153,361,023
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SARDH
sarcosine dehydrogenase
severity
IEP
mRNA:altered expression:liver tumor (human)
RGD
PMID:30901224
RGD:152995286
NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955
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SAV1
salvador family WW domain containing protein 1
ISS
OMIM:114550
MouseDO
NCBI chr14:50,633,580...50,668,306
Ensembl chr14:50,632,058...50,668,306
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SCAP
SREBF chaperone
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14563831
NCBI chr 3:47,413,681...47,477,127
Ensembl chr 3:47,413,681...47,477,126
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SCD
stearoyl-CoA desaturase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr10:100,347,233...100,364,826
Ensembl chr10:100,347,233...100,364,826
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SERPINA1
serpin family A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6258829 PMID:21472284
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SERPINA4
serpin family A member 4
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:19709125
NCBI chr14:94,561,442...94,569,906
Ensembl chr14:94,561,442...94,569,913
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SERPINB5
serpin family B member 5
disease_progression
IEP
associated with hepatitis B;
RGD
PMID:26296971
RGD:11520929
NCBI chr18:63,476,958...63,505,085
Ensembl chr18:63,476,958...63,505,085
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SERPINF1
serpin family F member 1
IEP
associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human)
RGD
PMID:27748324
RGD:27226704
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SET
SET nuclear proto-oncogene
IAGP
ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar
PMID:26822237
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
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SF3B1
splicing factor 3b subunit 1
treatment disease_progression
ISO IMP IEP IDA
protein:increased expression:liver mRNA, protein:increased expression:liver
RGD
PMID:29954402 PMID:33038489 PMID:33038489 PMID:29954402
RGD:126790493 , RGD:126790494 , RGD:126790494 , RGD:126790493
NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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SF3B4
splicing factor 3b subunit 4
severity treatment
ISO IEP IMP
mRNA, protein:increased expression:liver (rat) mRNA, protein:increased expression:liver(human) human cells in mouse model mRNA, protein:increased expression:liver (human)
RGD
PMID:29059470 PMID:30391496 PMID:30391496 PMID:29059470 PMID:29059470
RGD:155791679 , RGD:155804298 , RGD:155804298 , RGD:155791679 , RGD:155791679
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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SFN
stratifin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
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SFRP1
secreted frizzled related protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:41,261,962...41,309,473
Ensembl chr 8:41,261,962...41,309,473
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SH3GL1
SH3 domain containing GRB2 like 1, endophilin A2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33838155
NCBI chr19:4,360,370...4,400,547
Ensembl chr19:4,360,370...4,400,547
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SHC1
SHC adaptor protein 1
ISO
protein:increased expression, increased phosphorylation:hepatocyte
RGD
PMID:15375560
RGD:1643188
NCBI chr 1:154,962,298...154,974,376
Ensembl chr 1:154,962,298...154,974,395
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SHH
sonic hedgehog signaling molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26189965
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIK2
salt inducible kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34491613
NCBI chr11:111,602,449...111,730,855
Ensembl chr11:111,602,449...111,730,855
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SIX1
SIX homeobox 1
severity
IEP
protein:increased expression:liver (human)
RGD
PMID:17008870
RGD:11561961
NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
G
SKA1
spindle and kinetochore associated complex subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr18:50,375,046...50,394,168
Ensembl chr18:50,375,040...50,394,168
G
SKA3
spindle and kinetochore associated complex subunit 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr13:21,153,595...21,176,552
Ensembl chr13:21,153,595...21,176,552
G
SKP2
S-phase kinase associated protein 2
ISO EXP
protein:increased expression:liver CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12717389 PMID:19533683
RGD:2315050
NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
G
SLC22A1
solute carrier family 22 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
G
SLC22A10
solute carrier family 22 member 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560 PMID:30705370
NCBI chr11:63,289,903...63,363,144
Ensembl chr11:63,268,022...63,311,783
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SLC25A47
solute carrier family 25 member 47
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr14:100,323,339...100,330,421
Ensembl chr14:100,323,339...100,330,421
G
SLC26A6
solute carrier family 26 member 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
G
SLC2A1
solute carrier family 2 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8364915
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
G
SLC2A2
solute carrier family 2 member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8364915
NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
G
SLC38A1
solute carrier family 38 member 1
ameliorates disease_progression
IMP IEP
RGD
PMID:26389641 PMID:26389641
RGD:151361140 , RGD:151361140
NCBI chr12:46,183,063...46,269,043
Ensembl chr12:46,183,063...46,270,017
G
SLC5A5
solute carrier family 5 member 5
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15347726 PMID:15520214
NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
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SLC7A5
solute carrier family 7 member 5
ameliorates disease_progression
IMP ISO IEP
mRNA:increased expression:liver
RGD
PMID:26389641 PMID:7532544 PMID:23696029 PMID:26389641
RGD:151361140 , RGD:634202 , RGD:151361280 , RGD:151361140
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SLCO1B3
solute carrier organic anion transporter family member 1B3
disease_progression exacerbates
IEP
protein:decreased expression:liver (human) mRNA,protein:decreased expression:liver (human)
RGD
PMID:21626360 PMID:32534581
RGD:152995417 , RGD:152995423
NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911
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SLIT2
slit guidance ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19100240
NCBI chr 4:20,251,905...20,620,561
Ensembl chr 4:20,251,905...20,620,561
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SMAD2
SMAD family member 2
ISO
RGD
PMID:18971187
RGD:12880056
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD4
SMAD family member 4
disease_progression
ISO IEP
protein:increased expression:liver: protein:decreased expression:liver
RGD
PMID:18971187 PMID:29924446 PMID:22799322 PMID:23922662
RGD:12880056 , RGD:21066342 , RGD:21066341 , RGD:18182921
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD7
SMAD family member 7
IEP
mRNA:increased expression:liver (human)
RGD
PMID:25602745
RGD:14401589
NCBI chr18:48,919,853...48,950,965
Ensembl chr18:48,919,853...48,950,965
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SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
IAGP
DNA:SNPs: :rs11879293, rs2072382 (human)
RGD
PMID:24556940
RGD:127285650
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
disease_progression
IEP
mRNA:decreased expression:liver
RGD
PMID:27111394
RGD:127285647
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCC1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ameliorates
IEP
mRNA, protein:increased expression:liver (human)
RGD
PMID:32514535
RGD:151347860
NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106
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SMC3
structural maintenance of chromosomes 3
exacerbates
IMP
mRNA:increased editing:cds:p.K96R,p.Q103R(human)
RGD
PMID:29996118
RGD:156430111
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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SMG9
SMG9 nonsense mediated mRNA decay factor
severity
IEP
RGD
PMID:34456727
RGD:155882446
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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SMO
smoothened, frizzled class receptor
disease_progression
IAGP
DNA:SNP: :rs3824 (human)
RGD
PMID:25944162
RGD:150340548
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
G
SNAI1
snail family transcriptional repressor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35841383
NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
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SNRPE
small nuclear ribonucleoprotein polypeptide E
IMP
human gene in a mouse model
RGD
PMID:21688285
RGD:10768833
NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
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SNW1
SNW domain containing 1
severity
IEP
protein:increased expression:liver (human)
RGD
PMID:23696020
RGD:11035253
NCBI chr14:77,717,599...77,761,156
Ensembl chr14:77,717,599...77,761,207
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SNX27
sorting nexin 27
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36029209
NCBI chr 1:151,612,050...151,699,080
Ensembl chr 1:151,612,006...151,699,091
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SOAT1
sterol O-acyltransferase 1
exacerbates
HEP
associated with hepatitis B;protein:increased expression:liver (human)
RGD
PMID:30814741
RGD:126925204
NCBI chr 1:179,293,797...179,358,680
Ensembl chr 1:179,293,714...179,358,680
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SOAT2
sterol O-acyltransferase 2
IDA
RGD
PMID:16274362
RGD:1581190
NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535
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SOCS1
suppressor of cytokine signaling 1
treatment
IDA ISO
associated with liver cirrhosis;DNA:altered methylation:liver: DNA:hypermethylation:CpG island, 5'untranslated region:
RGD
PMID:14614012 PMID:22318090 PMID:15235874 PMID:18843197
RGD:150573687 , RGD:150573703 , RGD:150573700 , RGD:150573689
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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SOCS2
suppressor of cytokine signaling 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:93,569,969...93,626,236
Ensembl chr12:93,569,814...93,583,487
G
SOCS3
suppressor of cytokine signaling 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16831601
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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SOD1
superoxide dismutase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33010264
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SOD2
superoxide dismutase 2
disease_progression susceptibility
IDA EXP IEP IAGP
CTD Direct Evidence: marker/mechanism protein:increased expression:saliva associated with liver cirrhosis; DNA:SNP:cds:p.Ala16Val(rs1799725)(human)
CTD RGD
PMID:16767786 PMID:18760346 PMID:19731237 PMID:21472284 PMID:33010264 PMID:15869407 PMID:31041878 PMID:27221200 PMID:19731237 More...
RGD:1581242 , RGD:27095881 , RGD:26923955 , RGD:26923907
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOX30
SRY-box transcription factor 30
disease_progression exacerbates
IEP IDA
RGD
PMID:30312695 PMID:30312695
RGD:151660341 , RGD:151660341
NCBI chr 5:157,625,679...157,671,480
Ensembl chr 5:157,625,679...157,671,480
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SPAG9
sperm associated antigen 9
IDA
associated with Human Viral Hepatitis
RGD
PMID:29344208
RGD:30296654
NCBI chr17:50,962,174...51,120,868
Ensembl chr17:50,962,174...51,120,868
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SPC25
SPC25 component of NDC80 kinetochore complex
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 2:168,861,521...168,890,430
Ensembl chr 2:168,834,132...168,913,371
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SPOCK1
SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1
ameliorates
IDA
human cells in mouse model
RGD
PMID:30710422
RGD:153344549
NCBI chr 5:136,975,298...137,499,326
Ensembl chr 5:136,975,298...137,598,379
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SPOP
speckle type BTB/POZ protein
exacerbates
IEP IMP
mRNA:decreased expression:liver (human) human cells in mouse model
RGD
PMID:26156804 PMID:33209975
RGD:11074965 , RGD:153298924
NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163
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SPP1
secreted phosphoprotein 1
disease_progression
IDA IEP
mRNA:increased expression:liver (human)
RGD
PMID:16047475 PMID:35693827
RGD:1581375 , RGD:153344586
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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SPRTN
SprT-like N-terminal domain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25261934
NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
disease_progression
IEP ISO
RGD
PMID:9581679 PMID:9581679
RGD:150521543 , RGD:150521543
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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SREBF1
sterol regulatory element binding transcription factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14563831 PMID:21147110
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
G
SREBF2
sterol regulatory element binding transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306
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SRF
serum response factor
ISO
RGD
PMID:9570363
RGD:1581428
NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
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SRPX
sushi repeat containing protein X-linked
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:38,149,339...38,220,871
Ensembl chr X:38,149,336...38,220,924
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SRSF1
serine and arginine rich splicing factor 1
ISO
mRNA:increased expression:liver (human)
RGD
PMID:23633480
RGD:9685423
NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
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SRSF2
serine and arginine rich splicing factor 2
disease_progression treatment
ISO IEP IMP
RGD
PMID:32372053 PMID:29278882 PMID:28082404
RGD:150429663 , RGD:150429692 , RGD:150429666
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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SSX1
SSX family member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:48,255,392...48,267,444
Ensembl chr X:48,255,392...48,267,444
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ST6GAL1
ST6 beta-galactoside alpha-2,6-sialyltransferase 1
ISO
protein:increased activity:liver:
RGD
PMID:9331085
RGD:10043141
NCBI chr 3:186,930,526...187,078,553
Ensembl chr 3:186,930,325...187,078,553
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STAB2
stabilin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:103,587,273...103,766,719
Ensembl chr12:103,587,273...103,766,719
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STAT1
signal transducer and activator of transcription 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22488367
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:liver (mouse)
RGD
PMID:28100771
RGD:127285675
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STAT4
signal transducer and activator of transcription 4
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human)
CTD RGD
PMID:23242368 PMID:26745093
RGD:11553302
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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STAT5A
signal transducer and activator of transcription 5A
ameliorates
ISO
RGD
PMID:28100771
RGD:127285675
NCBI chr17:42,287,439...42,311,943
Ensembl chr17:42,287,547...42,311,943
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STAT5B
signal transducer and activator of transcription 5B
exacerbates ameliorates
IEP
protein:increased expression:liver (human) mRNA:increased expression:liver (human)
RGD
PMID:17047057 PMID:31485610
RGD:153298929 , RGD:153298932
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
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STC2
stanniocalcin 2
disease_progression
IEP
mRNA:increased expression:liver (human)
RGD
PMID:35693827
RGD:153344586
NCBI chr 5:173,314,723...173,328,414
Ensembl chr 5:173,314,723...173,328,447
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STIM1
stromal interaction molecule 1
IEP
mRNA:increased expression:liver (human)
RGD
PMID:23211538
RGD:152995401
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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STMN1
stathmin 1
disease_progression
EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28284560 PMID:28982915
RGD:21408578
NCBI chr 1:25,884,179...25,906,880
Ensembl chr 1:25,884,181...25,906,991
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TACC3
transforming acidic coiled-coil containing protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 4:1,721,521...1,745,171
Ensembl chr 4:1,712,858...1,745,171
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TAGLN2
transgelin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 1:159,918,111...159,925,507
Ensembl chr 1:159,918,107...159,925,507
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TALDO1
transaldolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19436114
NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
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TATDN1
TatD DNase domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr 8:124,488,494...124,539,088
Ensembl chr 8:124,488,485...124,539,458
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TBX3
T-box transcription factor 3
ameliorates disease_progression severity
ISO IEP
human cells in mouse model protein:increased expression:liver (human)
RGD
PMID:33577921 PMID:22811581 PMID:26922018 PMID:30578408 PMID:29295731
RGD:151361112 , RGD:151361132 , RGD:151361123 , RGD:151361122 , RGD:151361114
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TCF19
transcription factor 19
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 6:31,158,589...31,164,215
Ensembl chr 6:31,158,331...31,167,159
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TCIM
transcriptional and immune response regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:40,153,482...40,155,310
Ensembl chr 8:40,153,482...40,155,310
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TEDC2
tubulin epsilon and delta complex 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr16:2,460,109...2,464,963
Ensembl chr16:2,460,086...2,464,963
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TEK
TEK receptor tyrosine kinase
ISO
protein:increased expression
RGD
PMID:16951510
RGD:1601490
NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174
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TEP1
telomerase associated protein 1
disease_progression susceptibility
IAGP
associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human) DNA:SNP:intron:rs1760893(human)
RGD
PMID:23907815 PMID:27305982
RGD:152975963 , RGD:152977750
NCBI chr14:20,365,667...20,413,501
Ensembl chr14:20,365,667...20,413,501
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TERT
telomerase reverse transcriptase
disease_progression susceptibility no_association treatment
ISO IAGP IEP IDA EXP
protein:increased expression, increased localization:nucleus ClinVar Annotator: match by term: Hepatocellular carcinoma associated with hepatitis B;DNA:SNP: :rs13167280 (human) DNA:SNPs::rs2736098(human) mRNA:increased expression:liver DNA:hypermethylation:promoter DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human) DNA:mutations:promoter: CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16651430 PMID:22634754 PMID:23000435 PMID:25362482 PMID:25741868 PMID:25822088 PMID:28492532 PMID:28677271 PMID:34019641 PMID:20353272 PMID:23907815 PMID:25339005 PMID:25683523 PMID:25683523 PMID:26575952 PMID:28416747 PMID:19184104 PMID:17175353 PMID:25123086 More...
RGD:11038673 , RGD:152975963 , RGD:150530496 , RGD:11530743 , RGD:11530743 , RGD:11564803 , RGD:14696770 , RGD:14696769 , RGD:14696768 , RGD:14696767
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TET1
tet methylcytosine dioxygenase 1
IEP
protein:decreased expression:liver
RGD
PMID:23671639
RGD:9586747
NCBI chr10:68,560,337...68,694,487
Ensembl chr10:68,560,337...68,694,487
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TET2
tet methylcytosine dioxygenase 2
severity disease_progression ameliorates
IEP HEP IMP
mRNA, protein:increased expression:liver (human) mRNA:decreased expression:liver (human) human cells in mouse model mRNA, protein:decreased expression:liver (human)
RGD
PMID:29331390 PMID:30070373 PMID:26366235 PMID:33097695 PMID:33097695 PMID:29331390 More...
RGD:150429595 , RGD:150429689 , RGD:150429684 , RGD:150429597 , RGD:150429597 , RGD:150429595
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TFPI2
tissue factor pathway inhibitor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17464989 PMID:28284560
NCBI chr 7:93,885,396...93,890,753
Ensembl chr 7:93,885,396...93,890,753
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TFRC
transferrin receptor
ISO
mRNA:increased expression:liver
RGD
PMID:16953838
RGD:2292036
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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TGFA
transforming growth factor alpha
ISO EXP
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9029167 PMID:15565109 PMID:9060843
RGD:2317471
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TGFB1
transforming growth factor beta 1
EXP ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (mouse)
CTD RGD
PMID:9029167 PMID:28100771
RGD:127285675
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFB2
transforming growth factor beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33010264
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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TGFBR2
transforming growth factor beta receptor 2
ISO
mRNA, protein:decreased expression:liver
RGD
PMID:14585397
RGD:1601598
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TGM3
transglutaminase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:2,296,001...2,341,079
Ensembl chr20:2,296,001...2,341,079
G
TH
tyrosine hydroxylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
G
THEM4
thioesterase superfamily member 4
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23392203
NCBI chr 1:151,870,866...151,909,511
Ensembl chr 1:151,870,866...151,909,637
G
THY1
Thy-1 cell surface antigen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:119,415,476...119,424,985
Ensembl chr11:119,415,476...119,424,985
G
TICRR
TOPBP1 interacting checkpoint and replication regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:89,575,469...89,628,023
Ensembl chr15:89,575,469...89,631,056
G
TIMD4
T cell immunoglobulin and mucin domain containing 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:156,919,292...156,963,226
Ensembl chr 5:156,919,292...156,963,226
G
TK1
thymidine kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:78,174,079...78,187,204
Ensembl chr17:78,174,091...78,187,233
G
TLR2
toll like receptor 2
susceptibility
IAGP ISO
associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human)
RGD
PMID:21500195 PMID:22859216 PMID:27183918
RGD:15090813 , RGD:18337266 , RGD:15090815
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR3
toll like receptor 3
disease_progression
IEP
RGD
PMID:23197495
RGD:21079421
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
G
TLR4
toll like receptor 4
susceptibility
EXP IAGP IEP
CTD Direct Evidence: marker/mechanism DNA:SNPs, haplotype: :multiples DNA:SNP: :rs1057317(human) protein:increased expression:liver:
CTD RGD
PMID:27022031 PMID:21559380 PMID:25179842 PMID:28578348
RGD:14700558 , RGD:14700557 , RGD:14700552
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TLR7
toll like receptor 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24990399
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
G
TLR9
toll like receptor 9
treatment
IEP EXP IMP
protein: increased expression:peripheral blood mononuclear cell (human) CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:24990399 PMID:18215354 PMID:24452201
RGD:18337472 , RGD:18337468
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TMEM70
transmembrane protein 70
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
G
TNF
tumor necrosis factor
disease_progression
EXP ISO IAGP
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:liver, blood serum (mouse)
CTD RGD
PMID:27022031 PMID:26569409 PMID:26890368
RGD:11344640 , RGD:14975171
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TNFAIP3
TNF alpha induced protein 3
sexual_dimorphism ameliorates
ISO IEP
mRNA:decreased expression:liver (human) mRNA,protein:increased expression:liver (human) protein:decreased expression:liver (human)
RGD
PMID:27253414 PMID:29190981 PMID:26538215 PMID:32015333
RGD:151347600 , RGD:151347622 , RGD:151347618 , RGD:151347604
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
G
TNFSF10
TNF superfamily member 10
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17326159
NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
G
TNFSF9
TNF superfamily member 9
ISO
RGD
PMID:17325342
RGD:2317348
NCBI chr19:6,531,026...6,535,924
Ensembl chr19:6,531,026...6,535,924
G
TNIK
TRAF2 and NCK interacting kinase
disease_progression
HEP
protein:increased phosphorylation:liver, nucleus (human)
RGD
PMID:25160513
RGD:151347837
NCBI chr 3:171,058,414...171,460,408
Ensembl chr 3:171,058,414...171,460,408
G
TONSL
tonsoku like, DNA repair protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
G
TOP2A
DNA topoisomerase II alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
G
TP53
tumor protein p53
treatment
ISO IAGP EXP
protein:altered localization:cytoplasm, nucleus ClinVar Annotator: match by term: Hepatocellular carcinoma ClinVar Annotator: match by term: Hepatocellular cancer mRNA:increased expression:liver (mouse) DNA:missense mutation: :p.R249S (human) CTD Direct Evidence: marker/mechanism|therapeutic
OMIM ClinVar CTD RGD
PMID:1349102 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1672732 PMID:1683921 PMID:1849234 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7881428 PMID:7887414 PMID:8001119 PMID:8023157 PMID:8033108 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8843196 PMID:9029167 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9472631 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10366100 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10557074 PMID:10589545 PMID:10713666 PMID:10753186 PMID:10754498 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11429705 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11590071 PMID:11593407 PMID:11600572 PMID:11753428 PMID:11782540 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12779080 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15077194 PMID:15121773 PMID:15161705 PMID:15308588 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15564800 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16651430 PMID:16682957 PMID:16741917 PMID:16750598 PMID:16754663 PMID:16778209 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17191126 PMID:17308077 PMID:17311302 PMID:17401428 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18477611 PMID:18511570 PMID:18628487 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:19913028 PMID:19919837 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20505364 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20538734 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21059199 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21561095 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22553460 PMID:22619358 PMID:22653678 PMID:22672556 PMID:22675488 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23625637 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25119136 PMID:25131192 PMID:25256166 PMID:25326637 PMID:25381062 PMID:25404506 PMID:25503501 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25822088 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26556299 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27533082 PMID:27601191 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28802053 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28975465 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30130155 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31159747 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32475984 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32899294 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35938033 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37179382 PMID:37653074 PMID:39060302 PMID:7704023 PMID:33841550 PMID:28100771 PMID:29429512 PMID:29749584 More...
RGD:1302543 , RGD:152998960 , RGD:127285675 , RGD:14995934 , RGD:14995503
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
TP73
tumor protein p73
exacerbates treatment
IEP
protein:decreased phosphorylation:liver (human) human cells in a mouse model mRNA:increased expression:liver (human)
RGD
PMID:27359056 PMID:25371988 PMID:19664633 PMID:14760085 PMID:31429776
RGD:151347579 , RGD:151347596 , RGD:151347594 , RGD:151347593 , RGD:151347592
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
G
TPX2
TPX2 microtubule nucleation factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:31,739,290...31,801,800
Ensembl chr20:31,739,271...31,801,805
G
TRAF7
TNF receptor associated factor 7
treatment
IEP IMP
mRNA:increased expression:liver
RGD
PMID:31730901 PMID:31730901
RGD:151356961 , RGD:151356961
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
G
TRAIP
TRAF interacting protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
G
TRIM24
tripartite motif containing 24
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18026104
NCBI chr 7:138,460,259...138,589,996
Ensembl chr 7:138,460,259...138,589,996
G
TRIP13
thyroid hormone receptor interactor 13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357
G
TROAP
trophinin associated protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr12:49,323,255...49,331,731
Ensembl chr12:49,323,236...49,331,731
G
TSC1
TSC complex subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499249
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
G
TSC2
TSC complex subunit 2
severity
IEP
protein:decreased expression:liver (human)
RGD
PMID:24119083
RGD:21079731
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
G
TSLP
thymic stromal lymphopoietin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026
G
TSPY1
testis specific protein Y-linked 1
IEP
mRNA:increased expression:liver
RGD
PMID:16106251
RGD:2315447
NCBI chr Y:9,466,955...9,469,749
Ensembl chr Y:9,466,955...9,469,749
G
TST
thiosulfate sulfurtransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472284
NCBI chr22:37,010,859...37,020,183
Ensembl chr22:37,010,859...37,020,183
G
TTC36
tetratricopeptide repeat domain 36
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr11:118,527,474...118,530,993
Ensembl chr11:118,527,472...118,531,197
G
TTK
TTK protein kinase
disease_progression
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver (human)
CTD RGD
PMID:28284560 PMID:35693827
RGD:153344586
NCBI chr 6:80,004,649...80,042,527
Ensembl chr 6:80,003,887...80,042,527
G
TTR
transthyretin
disease_progression
IEP ISO
protein:decreased expression:blood serum (human) protein:increased expression:blood serum (rat) protein:increased expression:blood serum (human)
RGD
PMID:29534342 PMID:28876464 PMID:28876464 PMID:16240287
RGD:151356736 , RGD:151664602 , RGD:151664602 , RGD:151665161
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
G
TXNIP
thioredoxin interacting protein
ISS
OMIM:114550
MouseDO
NCBI chr 1:145,992,435...145,996,579
Ensembl chr 1:145,992,435...145,996,579
G
TYMS
thymidylate synthetase
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:deletion:3'UTR:1494del6(human)
CTD RGD
PMID:18019677 PMID:18230555 PMID:17659576
RGD:14696708
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
G
UACA
uveal autoantigen with coiled-coil domains and ankyrin repeats
ISS
OMIM:114550
MouseDO
NCBI chr15:70,654,554...70,778,903
Ensembl chr15:70,654,554...70,763,558
G
UBD
ubiquitin D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19363144
NCBI chr 6:29,555,515...29,559,732
Ensembl chr 6:29,555,515...29,559,732
G
UBE2C
ubiquitin conjugating enzyme E2 C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr20:45,812,644...45,816,952
Ensembl chr20:45,812,576...45,816,957
G
UBE2E2
ubiquitin conjugating enzyme E2 E2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr 3:23,203,098...23,591,925
Ensembl chr 3:23,203,020...23,591,794
G
UBE2T
ubiquitin conjugating enzyme E2 T
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
G
UBR5
ubiquitin protein ligase E3 component n-recognin 5
treatment
ISO
RGD
PMID:32087767
RGD:151665344
NCBI chr 8:102,252,273...102,412,700
Ensembl chr 8:102,252,273...102,412,759
G
UCHL1
ubiquitin C-terminal hydrolase L1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18666234
NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
G
UHRF1
ubiquitin like with PHD and ring finger domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154
G
UMPS
uridine monophosphate synthetase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230555
NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273
G
UROC1
urocanate hydratase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:126,481,166...126,517,773
Ensembl chr 3:126,481,166...126,517,773
G
USP2
ubiquitin specific peptidase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147110
NCBI chr11:119,355,215...119,381,690
Ensembl chr11:119,355,215...119,381,711
G
USP4
ubiquitin specific peptidase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35841383
NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712
G
VASN
vasorin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25826090
NCBI chr16:4,371,848...4,383,538
Ensembl chr16:4,371,848...4,383,538
G
VAV1
vav guanine nucleotide exchange factor 1
ISO
mRNA:decreased expression:liver
RGD
PMID:2064726
RGD:2306008
NCBI chr19:6,772,708...6,857,361
Ensembl chr19:6,772,708...6,857,366
G
VCAM1
vascular cell adhesion molecule 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22922871
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
G
VDR
vitamin D receptor
susceptibility
IDA IAGP
DNA:hypermethylation:promoter ClinVar Annotator: match by term: Hepatocellular cancer ClinVar Annotator: match by term: Hepatocellular carcinoma associated with alcoholic liver cirrhosis;DNA:haplotype:: associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human)
ClinVar RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:29432829 PMID:20572305 PMID:25541958 More...
RGD:14401747 , RGD:14402026 , RGD:14402025
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VEGFA
vascular endothelial growth factor A
treatment susceptibility disease_progression
IEP ISO IAGP
protein:increased expression:liver DNA:SNP: :2578C>A (human) associated with liver cirrhosis; associated with liver cirrhosis; protein:increased expression:platelet, liver: protein:increased expression:serum: DNA:polymorphism:promoter:-2578C>A (rs699947)(human)
RGD
PMID:27338800 PMID:25999787 PMID:24445728 PMID:18392108 PMID:16835748 PMID:26930285 PMID:18544126 PMID:28147320 PMID:28147320 More...
RGD:15003194 , RGD:152177911 , RGD:126848814 , RGD:15036790 , RGD:15014783 , RGD:11527070 , RGD:15003200 , RGD:15003196 , RGD:15003196
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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VEGFC
vascular endothelial growth factor C
IEP
associated with liver cirrhosis; protein:increased expression:liver:
RGD
PMID:18544126
RGD:15003200
NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922
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VHL
von Hippel-Lindau tumor suppressor
disease_progression
IEP
RGD
PMID:31321740
RGD:155882550
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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VIPR1
vasoactive intestinal peptide receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:42,489,299...42,537,568
Ensembl chr 3:42,489,299...42,537,573
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VSIG4
V-set and immunoglobulin domain containing 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:66,021,738...66,040,080
Ensembl chr X:66,021,738...66,040,125
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WDR62
WD repeat domain 62
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108
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WDR76
WD repeat domain 76
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr15:43,827,002...43,868,412
Ensembl chr15:43,826,980...43,868,412
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WNT2
Wnt family member 2
susceptibility
IAGP
associated with hepatitis B;DNA:SNP: :rs4730775(human)
RGD
PMID:28328801
RGD:14402040
NCBI chr 7:117,275,451...117,323,058
Ensembl chr 7:117,275,451...117,323,152
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WRAP53
WD repeat containing antisense to TP53
IEP
RNA:increased expression:liver:
RGD
PMID:26551349
RGD:11096781
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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XAGE1B
X antigen family member 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr X:52,512,077...52,517,068
Ensembl chr X:52,512,077...52,520,803
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XDH
xanthine dehydrogenase
ISO
protein:decreased activity:tumor (rat)
RGD
PMID:179860
RGD:5135059
NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
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XPO1
exportin 1
ameliorates exacerbates treatment
IMP IEP ISO
human cell line in a mouse model mRNA:increased expression:liver (human)
RGD
PMID:25030088 PMID:31371628 PMID:27013579
RGD:151665796 , RGD:151667441 , RGD:151667433
NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741
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XPO5
exportin 5
severity
IAGP
DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:24676133
RGD:11041737
NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038
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XRCC1
X-ray repair cross complementing 1
severity susceptibility disease_progression no_association
IEA IAGP
associated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human) DNA:SNPs:exon 9, exon 15: c.910A>G, c.1686C>G (human) DNA:SNP:exon 13: c.1471G>A, p.E491K (human) DNA:SNPs:cds: 194C>T, 280A>G (human) associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human) associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human) associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human) DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human) DNA:missense mutation:cds:p.R399Q (rs25487) (human) DNA:SNPs:exons:c.1254C>T, c.1517G>C (human) DNA:missense mutation:cds:c.1804C>A (p.G506A) (human) DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human) DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human) DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human)
GAD RGD
PMID:15118671 PMID:32334466 PMID:24634229 PMID:24446299 PMID:28927037 PMID:29935355 PMID:29935355 PMID:23454624 PMID:19194663 PMID:23534753 PMID:14519756 PMID:23984316 PMID:22502666 PMID:24526467 PMID:26918371 PMID:29682247 PMID:23493666 PMID:24570146 PMID:28058700 More...
RGD:1331525 , RGD:150540333 , RGD:150540332 , RGD:150530624 , RGD:150530503 , RGD:15036797 , RGD:15036797 , RGD:15036794 , RGD:15014792 , RGD:15014791 , RGD:15014790 , RGD:15014789 , RGD:14985243 , RGD:14985242 , RGD:14985240 , RGD:14985238 , RGD:14696773 , RGD:14696772 , RGD:14696702
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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YAP1
Yes1 associated transcriptional regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29698666
NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
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YTHDF2
YTH N6-methyladenosine RNA binding protein F2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28104805
NCBI chr 1:28,736,624...28,769,775
Ensembl chr 1:28,736,621...28,769,775
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YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
severity
IEP
RGD
PMID:27811373
RGD:14700875
NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388
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ZC3H12D
zinc finger CCCH-type containing 12D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34545456
NCBI chr 6:149,446,795...149,485,014
Ensembl chr 6:149,446,795...149,485,014
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ZFHX3
zinc finger homeobox 3
severity disease_progression
IMP IEP
human cell line in a mouse model associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:32277050 PMID:20534899
RGD:151361162 , RGD:151361169
NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871
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ZFP36
ZFP36 ring finger protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr19:39,406,847...39,409,407
Ensembl chr19:39,406,847...39,409,407
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ZIC2
Zic family member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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ZIC4
Zic family member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr 3:147,386,046...147,406,543
Ensembl chr 3:147,386,046...147,406,809
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ZIC5
Zic family member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr13:99,962,964...99,971,909
Ensembl chr13:99,962,964...99,971,767
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ZNF23
zinc finger protein 23
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21965783
NCBI chr16:71,447,597...71,462,247
Ensembl chr16:71,447,597...71,463,095
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ZWINT
ZW10 interacting kinetochore protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28284560
NCBI chr10:56,357,227...56,361,273
Ensembl chr10:56,357,227...56,361,273
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression
IAGP
DNA:misssense mutation:cds:p.Arg132Cys(human) DNA:polymorphism: :rs12478635(human)
RGD
PMID:28403884 PMID:25355558
RGD:14974227 , RGD:14974228
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
IAGP
DNA:polymorphism: :rs11632348(human)
RGD
PMID:25355558
RGD:14974228
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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LEP
leptin
IEP
mRNA:increased expression:liver:
RGD
PMID:20723213
RGD:14696785
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
IEP
mRNA:increased expression:liver
RGD
PMID:20723213
RGD:14696785
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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TERT
telomerase reverse transcriptase
disease_progression
IEP
mRNA:increased expression:liver:
RGD
PMID:28460432 PMID:20723213
RGD:14696783 , RGD:14696785
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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APC
APC regulator of WNT signaling pathway
IAGP
ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma
ClinVar
PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28135048 PMID:28195569 PMID:28492532 PMID:32390703 More...
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARID1A
AT-rich interaction domain 1A
disease_progression exacerbates
IEP
mRNA,protein:decreased expression:intrahepatic bile duct (human)
RGD
PMID:30849962 PMID:27433094 PMID:31665232
RGD:14974231 , RGD:126775257 , RGD:126781775
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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BAP1
BRCA1 associated deubiquitinase 1
disease_progression
IEP
RGD
PMID:27864835
RGD:150340628
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BECN1
beclin 1
disease_progression
IEP
RGD
PMID:30849962
RGD:14974231
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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FAS
Fas cell surface death receptor
disease_progression
IEP
RGD
PMID:11003620
RGD:14700701
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FASLG
Fas ligand
severity
IEP
RGD
PMID:11003620
RGD:14700701
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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FOXP3
forkhead box P3
ISO
DNA:hypomethylation:liver
RGD
PMID:24291052
RGD:38599002
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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HSP90AA1
heat shock protein 90 alpha family class A member 1
disease_progression
IEP
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
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HSP90AB1
heat shock protein 90 alpha family class B member 1
disease_progression
IEP
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
no_association
IAGP
DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)
RGD
PMID:26245674
RGD:14974229
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
IAGP ISO
DNA:mutations: : mRNA:decreased expression:liver (mouse)
RGD
PMID:22824796 PMID:32463951
RGD:14985256 , RGD:149735894
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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KDM5C
lysine demethylase 5C
exacerbates
HEP
protein:decreased expression:bile duct (human)
RGD
PMID:32714863
RGD:151361175
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,277...53,225,422
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KRAS
KRAS proto-oncogene, GTPase
disease_progression
ISS IAGP
DNA:mutations::
MouseDO RGD
PMID:24139215
RGD:14398746
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LCN2
lipocalin 2
treatment
ISO IEP
Protein:increased expression:bile duct
RGD
PMID:24939880 PMID:24939880
RGD:126790491 , RGD:126790491
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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LRP1B
LDL receptor related protein 1B
exacerbates
IAGP
DNA:mutations:multiple: (human)
RGD
PMID:33014052
RGD:150429786
NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016
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MAGI1
membrane associated guanylate kinase, WW and PDZ domain containing 1
disease_progression
HEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr 3:65,353,526...66,038,918
Ensembl chr 3:65,353,525...66,038,918
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MIR152
microRNA 152
IEP
miRNA:decreased expression:intrahepatic bile duct
RGD
PMID:28921383
RGD:19165148
NCBI chr17:48,037,161...48,037,247
Ensembl chr17:48,037,161...48,037,247
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MIR200B
microRNA 200b
IEP
RNA:increased expression:liver
RGD
PMID:27685844
RGD:14928335
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
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MIR21
microRNA 21
IEP
RNA:increased expression:liver,plasma
RGD
PMID:27685844
RGD:14928335
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR221
microRNA 221
severity
IEP
RGD
PMID:27685844
RGD:14928335
NCBI chr X:45,746,157...45,746,266
Ensembl chr X:45,746,157...45,746,266
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PBRM1
polybromo 1
disease_progression
IEP HEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:27864835 PMID:30377796
RGD:150340628 , RGD:152998946
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
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PTEN
phosphatase and tensin homolog
disease_progression
IEP
protein:decreased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RNF43
ring finger protein 43
exacerbates
IEP
mRNA, protein:decreased expression:liver, bile duct epithelium (human)
RGD
PMID:26980022
RGD:151361125
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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RUNX1
RUNX family transcription factor 1
IEP
mRNA:increased expression:intrahepatic bile duct
RGD
PMID:31015363
RGD:126775143
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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S100B
S100 calcium binding protein B
disease_progression
HEP
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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SMAD4
SMAD family member 4
disease_progression
IEP
mRNA,protein:decreased expression:intrahepatic bile duct
RGD
PMID:16917866 PMID:23981608
RGD:18936999 , RGD:21066336
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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TEP1
telomerase associated protein 1
IEP
mRNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr14:20,365,667...20,413,501
Ensembl chr14:20,365,667...20,413,501
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TERC
telomerase RNA component
IEP
RNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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APC
APC regulator of WNT signaling pathway
IAGP
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARID1A
AT-rich interaction domain 1A
disease_progression
IAGP
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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GATA6
GATA binding protein 6
sexual_dimorphism
IAGP
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
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KMT2C
lysine methyltransferase 2C
onset
IAGP
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
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KRAS
KRAS proto-oncogene, GTPase
disease_progression
IAGP
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
sexual_dimorphism
IAGP
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:33387086
RGD:126848756
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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ABCA1
ATP binding cassette subfamily A member 1
severity
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:30580964
RGD:24922199
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCB11
ATP binding cassette subfamily B member 11
ISO
mRNA:decreased expression:liver
RGD
PMID:29651702
RGD:14402411
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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ACOT12
acyl-CoA thioesterase 12
ISO
RGD
PMID:2566591
RGD:13831129
NCBI chr 5:81,308,609...81,394,134
Ensembl chr 5:81,329,996...81,394,179
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ADAM28
ADAM metallopeptidase domain 28
IEP
mRNA:increased expression:liver
RGD
PMID:32782619
RGD:153297784
NCBI chr 8:24,294,069...24,359,014
Ensembl chr 8:24,294,069...24,359,014
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ALDH2
aldehyde dehydrogenase 2 family member
ISO
DNA:missense mutation:cds:p.E487K (mouse)
RGD
PMID:26150517
RGD:14696779
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
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ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:19919837
RGD:150340702
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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CCND1
cyclin D1
disease_progression
ISO
protein:increased expression:liver (rat)
RGD
PMID:11797828
RGD:151356973
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CCND2
cyclin D2
disease_progression
IDA
RGD
PMID:30308939
RGD:151665105
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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CCNE1
cyclin E1
disease_progression
ISO
protein:increased expression:liver (rat)
RGD
PMID:11797828
RGD:151356973
NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
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CDH1
cadherin 1
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:25319454
RGD:152995431
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CES1
carboxylesterase 1
treatment
ISO
RGD
PMID:27523631
RGD:152995275
NCBI chr16:55,802,851...55,833,096
Ensembl chr16:55,802,851...55,833,337
G
CHUK
component of inhibitor of nuclear factor kappa B kinase complex
IMP
human cells in mouse model
RGD
PMID:27367027
RGD:153305911
NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
G
GPT
glutamic--pyruvic transaminase
treatment
IEP
RGD
PMID:22922605
RGD:14975251
NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
G
GPT2
glutamic--pyruvic transaminase 2
treatment
IEP
RGD
PMID:22922605
RGD:14975251
NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
G
HRAS
HRas proto-oncogene, GTPase
ISO
DNA:missense mutations:cds:p.Q61L, p.Q61K, p.Q61R (mouse)
RGD
PMID:9142214
RGD:14688053
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
G
IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
IMP
human cells in mouse model
RGD
PMID:27367027
RGD:153305911
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
G
IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
IMP
human cells in mouse model
RGD
PMID:27367027
RGD:153305911
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
G
IL10
interleukin 10
IEP
RGD
PMID:30610790
RGD:14975253
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
JAG1
jagged canonical Notch ligand 1
treatment
ISO
miRNA:decreased expression:liver
RGD
PMID:25311838
RGD:14694834
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
G
JAK2
Janus kinase 2
severity
IEP IMP
mRNA:increased expression:liver,serum (human) human cell line in a mouse model
RGD
PMID:27788478 PMID:27788478
RGD:18182929 , RGD:18182929
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
G
KRT18
keratin 18
severity
ISO
associated with fatty liver disease
RGD
PMID:27689336
RGD:18337485
NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906
G
MAPK14
mitogen-activated protein kinase 14
exacerbates
ISO
RGD
PMID:17468757
RGD:151665350
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,752...36,122,511
G
PCNA
proliferating cell nuclear antigen
disease_progression
ISO
protein:increased expression:liver (rat)
RGD
PMID:11797828
RGD:151356973
NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
susceptibility
ISO
RGD
PMID:20583210
RGD:14402407
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
G
SETD2
SET domain containing 2, histone lysine methyltransferase
IEP
protein:decreased expression:liver (human)
RGD
PMID:26172293
RGD:11530741
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
G
SLCO1B1
solute carrier organic anion transporter family member 1B1
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:21625523
RGD:152995425
NCBI chr12:21,131,194...21,239,796
Ensembl chr12:21,131,194...21,239,796
G
SLCO1B3
solute carrier organic anion transporter family member 1B3
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:25319454
RGD:152995431
NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911
G
SLCO2B1
solute carrier organic anion transporter family member 2B1
disease_progression
IEP
mRNA:decreased expression:liver (human)
RGD
PMID:21625523
RGD:152995425
NCBI chr11:75,151,107...75,206,549
Ensembl chr11:75,100,563...75,206,549
G
XRCC1
X-ray repair cross complementing 1
severity
IEP
mRNA:increased expression:liver (human)
RGD
PMID:30088263
RGD:15036795
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
G
ATP7B
ATPase copper transporting beta
ISO
RGD
PMID:11509115
RGD:1302456
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
G
DDR2
discoidin domain receptor tyrosine kinase 2
ameliorates
ISO
DNA:deletion:exons:
RGD
PMID:24293323
RGD:150429711
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
G
HMBS
hydroxymethylbilane synthase
sexual_dimorphism
ISO
Protein:increased activity:liver (rat)
RGD
PMID:1781034
RGD:25440495
NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
G
HRAS
HRas proto-oncogene, GTPase
ISO
DNA:hypomethylation
RGD
PMID:3345576
RGD:14694848
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
G
IL10
interleukin 10
IAGP
DNA:SNP:promoter:-592C>A (rs1800872) (human)
RGD
PMID:28763918
RGD:14975157
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
NRAS
NRAS proto-oncogene, GTPase
IEP
mRNA:increased expression:liver (human)
RGD
PMID:3018923
RGD:14975106
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
G
PDCD10
programmed cell death 10
IEP
protein:increased expression:liver (human)
RGD
PMID:32186778
RGD:401827111
NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
G
ACE
angiotensin I converting enzyme
ISO
associated with colorectal cancer;mRNA:increased expression:liver (mouse)
RGD
PMID:20380732
RGD:25671446
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
severity
IAGP
associated with colorectal cancer;DNA:mutation:cds: associated with colorectal cancer;DNA:mutations:multiple associated with skin melanoma;DNA:missense mutations:cds: associated with colorectal cancer;DNA:missense mutations:cds:pV599E,p.V600E (human) associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:27737491 PMID:26775732 PMID:28787433 PMID:22331825 PMID:23010994
RGD:18337264 , RGD:11554843 , RGD:14696791 , RGD:18337265 , RGD:15039394
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
G
CCL2
C-C motif chemokine ligand 2
disease_progression
IEP
associated with colorectal cancer
RGD
PMID:27058904
RGD:14995463
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL5
C-C motif chemokine ligand 5
treatment
ISO
associated with Animal Mammary Neoplasms;
RGD
PMID:15692764
RGD:14995455
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
G
CCND2
cyclin D2
IEP
associated with colorectal cancer;protein:increased expression:colorectum
RGD
PMID:19508551
RGD:151665111
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
G
CCNG1
cyclin G1
treatment
IMP
human cells in mouse model
RGD
PMID:10910035
RGD:151356987
NCBI chr 5:163,437,571...163,457,640
Ensembl chr 5:163,437,569...163,448,199
G
CD44
CD44 molecule (IN blood group)
IEP
associated with Breast Neoplasm;protein:increased expression:liver
RGD
PMID:17991717
RGD:2289349
NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
G
CHD4
chromodomain helicase DNA binding protein 4
ameliorates
IMP
associated with human colon adenocarcinoma cells in a mouse model
RGD
PMID:28486105
RGD:153323299
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
G
CXCL10
C-X-C motif chemokine ligand 10
treatment
ISO
associated with colon carcinoma;
RGD
PMID:30381616
RGD:27095891
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
G
CXCL12
C-X-C motif chemokine ligand 12
ameliorates
IEP
associated with colorectal cancer; human cells in mouse model
RGD
PMID:30789971
RGD:151893289
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
G
CXCL8
C-X-C motif chemokine ligand 8
IMP
associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model
RGD
PMID:29679563
RGD:26884358
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
CXCR4
C-X-C motif chemokine receptor 4
ameliorates
IEP IMP
associated with colorectal cancer; human cells in mouse model human cells in mouse model; associated with colorectal cancer
RGD
PMID:30789971 PMID:29436696
RGD:151893289 , RGD:152023643
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
G
DAXX
death domain associated protein
exacerbates
IEP IAGP
associated with colon cancer; mRNA:decreased expression:liver (human) associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human) associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human)
RGD
PMID:31942198 PMID:30339629 PMID:30342802
RGD:152025194 , RGD:152025203 , RGD:152025199
NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
G
DDR1
discoidin domain receptor tyrosine kinase 1
treatment
ISO IMP
mRNA:increased expression:liver (mouse) human cells in mouse model; nilotinib
RGD
PMID:33110221 PMID:30666650 PMID:29438985
RGD:151347537 , RGD:151347840 , RGD:151347685
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
G
DDR2
discoidin domain receptor tyrosine kinase 2
ameliorates
ISO IMP
associated with colon carcinoma associated with melanoma;
RGD
PMID:22071959 PMID:21701781
RGD:150429701 , RGD:150429713
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
G
DOCK6
dedicator of cytokinesis 6
ameliorates
IMP
associated with stomach cancer;
RGD
PMID:29587866
RGD:155791564
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
G
FBXW7
F-box and WD repeat domain containing 7
disease_progression
IEP
associated with colorectal cancer;
RGD
PMID:28846828
RGD:21408566
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
G
FGFR1
fibroblast growth factor receptor 1
IEP
associated with colorectal cancer;mRNA:increased expression:colorectal mucosa:
RGD
PMID:19082464
RGD:25330357
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
G
FOSL2
FOS like 2, AP-1 transcription factor subunit
IMP
human cells in mouse model
RGD
PMID:30114390
RGD:153344554
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
G
GPC3
glypican 3
IEP
protein:increased expression:blood serum (human)
RGD
PMID:28801286
RGD:243065135
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
G
HMBS
hydroxymethylbilane synthase
ISO
associated with colon adenocarcinoma;protein:decreased activity:liver(rat)
RGD
PMID:1386052
RGD:25440496
NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
G
IL2
interleukin 2
treatment
IDA
associated with Colorectal Neoplasms, Carcinoma, Hepatocellular; associated with colon carcinoma
RGD
PMID:11591892 PMID:9354462
RGD:8663446 , RGD:14928215
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
G
IQSEC1
IQ motif and Sec7 domain ArfGEF 1
IMP
human cells in mouse model
RGD
PMID:22662237
RGD:153344589
NCBI chr 3:12,897,043...13,283,257
Ensembl chr 3:12,897,043...13,283,281
G
MAP2K7
mitogen-activated protein kinase kinase 7
IEP
associated with colon cancer;protein:increased expression:colon (human)
RGD
PMID:24533778
RGD:155259116
NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478
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MIR141
microRNA 141
IEP
associated with colorectal cancer;RNA:increased expression:liver:
RGD
PMID:28617555
RGD:14928321
NCBI chr12:6,964,097...6,964,191
Ensembl chr12:6,964,097...6,964,191
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MIR148B
microRNA 148b
exacerbates
IMP
associated with stomach cancer;
RGD
PMID:29587866
RGD:155791564
NCBI chr12:54,337,216...54,337,314
Ensembl chr12:54,337,216...54,337,314
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MIR155
microRNA 155
IEP
RGD
PMID:26885061
RGD:21079444
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
G
MIR200B
microRNA 200b
IEP
associated with colorectal cancer;RNA:increased expression:liver:
RGD
PMID:28617555
RGD:14928321
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
G
MIR200C
microRNA 200c
IEP
associated with colorectal cancer;RNA:increased expression:liver:
RGD
PMID:28617555
RGD:14928321
NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766
G
MIR223
microRNA 223
disease_progression
IEP
associated with colorectal cancer;
RGD
PMID:28846828
RGD:21408566
NCBI chr X:66,018,870...66,018,979
Ensembl chr X:66,018,870...66,018,979
G
MIR494
microRNA 494
exacerbates
IMP
associated with pancreatic ductal adenocarcinoma;
RGD
PMID:24859161
RGD:156430321
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
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MIR597
microRNA 597
IMP
human cells in mouse model
RGD
PMID:31245295
RGD:153344552
NCBI chr 8:9,741,672...9,741,768
Ensembl chr 8:9,741,672...9,741,768
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MPL
MPL proto-oncogene, thrombopoietin receptor
severity exacerbates
ISO IEP
associated with pancreatic ductal adenocarcinoma; human cells in mouse model associated with colorectal carcinoma;protein:increased expression:colorectum (human) associated with pancreatic cancer; protein:increased expression:liver, pancreas (human)
RGD
PMID:30770989 PMID:23747337 PMID:30770989
RGD:126925751 , RGD:126925752 , RGD:126925751
NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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NRAS
NRAS proto-oncogene, GTPase
susceptibility
IAGP
human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human) associated with colorectal cancer;DNA:mutations:exons (human) associated with melanoma;DNA:mutations: exons (human)
RGD
PMID:26799184 PMID:28011498 PMID:28787433
RGD:14696774 , RGD:14696792 , RGD:14696791
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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PTPRB
protein tyrosine phosphatase receptor type B
treatment
ISO
mouse tumor cells in mouse recipient
RGD
PMID:31348125
RGD:151660353
NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
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RICTOR
RPTOR independent companion of MTOR complex 2
disease_progression
ISO IEP
mRNA:increased expression:liver (human)
RGD
PMID:30404068 PMID:30404068
RGD:152995463 , RGD:152995463
NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402
G
RNF43
ring finger protein 43
IEP
associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human)
RGD
PMID:28789449
RGD:151361221
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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SLC3A2
solute carrier family 3 member 2
severity
ISO
associated with colon adenocarcinoma
RGD
PMID:11745822
RGD:151361130
NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880
G
SLC7A5
solute carrier family 7 member 5
severity
ISO
associated with colon cancer associated with colon adenocarcinoma
RGD
PMID:11718450 PMID:11745822
RGD:151361129 , RGD:151361130
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
G
SMAD4
SMAD family member 4
treatment
IAGP IEP
associated with colorectal carcinoma; DNA:mutations: : associated with colorectal carcinoma;protein:decreased expression:colorectum:
RGD
PMID:29551247 PMID:17390050
RGD:18937000 , RGD:21066338
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
G
SOX30
SRY-box transcription factor 30
ameliorates
ISO
RGD
PMID:29739711
RGD:151660333
NCBI chr 5:157,625,679...157,671,480
Ensembl chr 5:157,625,679...157,671,480
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
disease_progression
IEP
associated with colon cancer;protein:increased activity:colon
RGD
PMID:7678609
RGD:150521542
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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VEGFA
vascular endothelial growth factor A
IEP
associated with colorectal carcinoma;mRNA,protein:increased expression:liver:
RGD
PMID:22156924
RGD:15014782
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
G
PRKACA
protein kinase cAMP-activated catalytic subunit alpha
susceptibility
ISO
RGD
PMID:28923495
RGD:151347843
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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SPRTN
SprT-like N-terminal domain
IAGP
ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome ClinVar Annotator: match by term: SPRTN-related condition ClinVar Annotator: match by term: Progeroid features-hepatocellular carcinoma predisposition syndrome | ClinVar Annotator: match by term: SPRTN-related condition
ClinVar OMIM
PMID:12503110 PMID:25261934 PMID:25741868 PMID:28492532
NCBI chr 1:231,338,293...231,355,023
Ensembl chr 1:231,337,104...231,355,023
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