hepatobiliary system cancer - Ontology Report

discoidin domain receptor tyrosine kinase 2

disease_progression

ISO

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

IFITM1

interferon induced transmembrane protein 1

disease_progression

ISO

NCBI chr11:309,930...311,177
Ensembl chr11:353,236...354,986

aflatoxins-related hepatocellular carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

EPHX1

epoxide hydrolase 1

ISO

associated with estrogen excess;protein:increased activity;liver (rat)

PMID:6133380

RGD:152998935

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

GGT1

gamma-glutamyltransferase 1

ISO

associated with estrogen excess;protein:increased activity;liver (rat)

PMID:6133380

RGD:152998935

NCBI chr22:5,424,334...5,469,705

bile duct adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

solute carrier family 7 member 5

disease_progression

ISO

PMID:24131658

RGD:151361287

NCBI chr16:68,512,407...68,552,763

bile duct cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APOB

apolipoprotein B

susceptibility

ISO

DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human)

PMID:18296645

RGD:2317550

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

APOE

apolipoprotein E

susceptibility

ISO

DNA:SNP:intron:rs440446 (human)

PMID:18296645

RGD:2317550

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

ATM serine/threonine kinase

ISO

ClinVar Annotator: match by term: Bile duct cancer

PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

MLH1

mutL homolog 1

ISO

ClinVar Annotator: match by term: Bile duct cancer

PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More...

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

MSH2

mutS homolog 2

ISO

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:33357406

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

PALB2

partner and localizer of BRCA2

ISO

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

PKD1

polycystin 1, transient receptor potential channel interacting

ISO

ClinVar Annotator: match by term: Bile duct cancer

PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More...

NCBI chr16:604,366...605,560

POLD1

DNA polymerase delta 1, catalytic subunit

ISO

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

STK11

serine/threonine kinase 11

ISO

ClinVar Annotator: match by term: Bile duct cancer

Ensembl chr19:1,188,537...1,210,677

TJP1

tight junction protein 1

ISO

protein:decreased expression:bile duct

PMID:19184677

RGD:2325030

NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878

bile duct carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MSLN

mesothelin

ISO

protein:increased expression:bile duct

PMID:17276942

RGD:2326059

Ensembl chr16:777,146...783,449

solute carrier family 7 member 5

disease_progression

ISO

PMID:24890221

RGD:151361210

NCBI chr16:68,512,407...68,552,763

biliary tract cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APOB

apolipoprotein B

ISO

protein:increased expression:serum

PMID:18076041

RGD:2325763

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

CYP1A1

cytochrome P450 family 1 subfamily A member 1

ISO

DNA:polymorphism:exon:rs2606345 (human)

PMID:19168589

RGD:2317210

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

PPARD

peroxisome proliferator activated receptor delta

ISO

PMID:18497548

RGD:2324871

NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132

childhood hepatocellular carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MET proto-oncogene, receptor tyrosine kinase

ISO

ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma

PMID:9927037

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

cholangiocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC2

ATP binding cassette subfamily C member 2

susceptibility

ISO

DNA:polymorphism:exon:c.3972C>T (human)

PMID:19451719

RGD:2317508

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

ADRB2

adrenoceptor beta 2

ISO

protein:decreased expression:liver

PMID:16292515

RGD:2325640

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

ALB

albumin

disease_progression

ISO

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325679 RGD:2325680 RGD:2325682

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

ALOX5

arachidonate 5-lipoxygenase

ISO

protein:increased expression:bile duct

PMID:18507031

RGD:2317521

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

ANXA2

annexin A2

disease_progression

ISO

PMID:20493868

RGD:2325728

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

APC regulator of WNT signaling pathway

ISO

DNA:hypermethylation:promoter
DNA:loss of heterozygosity

PMID:10212000 PMID:15467712

RGD:2317198 RGD:2317205

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

APOA1

apolipoprotein A1

ISO

protein:decreased expression:serum

PMID:19486127

RGD:2325756

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

AT-rich interaction domain 1A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

ASPH

aspartate beta-hydroxylase

ISO

PMID:21898484

RGD:6902945

NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658

ATG101

autophagy related 101

disease_progression

ISO

PMID:35592424

RGD:153350091

NCBI chr12:36,685,897...36,693,613
Ensembl chr12:37,462,533...37,470,062

BAP1

BRCA1 associated deubiquitinase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

BIRC6

baculoviral IAP repeat containing 6

ameliorates

ISO

mRNA:increased expression:bile duct (human)

PMID:31964418

RGD:153344516

NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245

B-Raf proto-oncogene, serine/threonine kinase

ISO

DNA:missense mutation:cds:p.V600E (human)

PMID:12692057

RGD:11073239

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

CDKN2A

cyclin dependent kinase inhibitor 2A

onset

ISO

protein:decreased expression:liver

PMID:15619210

RGD:2317417

NCBI chr 9:21,803,862...21,831,322

CXCL8

C-X-C motif chemokine ligand 8

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

CXCR1

C-X-C motif chemokine receptor 1

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890

CYP24A1

cytochrome P450 family 24 subfamily A member 1

ISO

protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)

PMID:23375797

RGD:151361187

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

EGF

epidermal growth factor

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868 PMID:28492532

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

EGFR

epidermal growth factor receptor

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

EPO

erythropoietin

ISO

mRNA, protein:increased expression:liver

PMID:23052842

RGD:10400912

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

EPOR

erythropoietin receptor

ISO

mRNA, protein:increased expression:liver

PMID:23052842

RGD:10400912

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

ERBB2

erb-b2 receptor tyrosine kinase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:16818635

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

no_association
disease_progression

ISO

DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
DNA:SNP: :g.148505302C>T (rs887569) (human)

PMID:24179546

RGD:126779604

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

FASLG

Fas ligand

ISO

PMID:11029528

RGD:2317746

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

FGF2

fibroblast growth factor 2

ISO

protein:increased expression:bile

PMID:11478488

RGD:2317765

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

FGFR2

fibroblast growth factor receptor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:26258846

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

FSCN1

fascin actin-bundling protein 1

disease_progression

ISO

protein:increased expression:bile ducts

PMID:19721413

RGD:2317780

NCBI chr 7:5,848,902...5,862,756

GNAS

GNAS complex locus

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:393T>C (human)

PMID:17356712 PMID:22561520

RGD:1601377

NCBI chr20:55,190,607...55,262,245

GSTM1

glutathione S-transferase mu 1

ISO

PMID:24049014

RGD:14700980

Ensembl chr 1:127,979,238...128,010,411

GSTP1

glutathione S-transferase pi 1

treatment

ISO

human cell line in a mouse model
DNA:hypermethylation:promoter

PMID:12805482 PMID:15467712

RGD:14401711 RGD:2317198

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

HDAC6

histone deacetylase 6

ISO

protein:increased expression:liver:

PMID:23370327

RGD:9681560

NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

HGF

hepatocyte growth factor

ISO

mRNA, protein:increased expression: :
protein:increased expression:serum

PMID:10827151 PMID:16974053

RGD:2317909 RGD:2317925

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

HIF1A

hypoxia inducible factor 1 subunit alpha

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

HNF1B

HNF1 homeobox B

ISO

CTD Direct Evidence: marker/mechanism

PMID:39887605

NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863

isocitrate dehydrogenase (NADP(+)) 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

isocitrate dehydrogenase (NADP(+)) 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

interleukin 10

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More...

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

IL19

interleukin 19

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 More...

NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748

IL1B

interleukin 1 beta

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

IL1R2

interleukin 1 receptor type 2

disease_progression

ISO

mRNA:altered expression:liver (human)

Ensembl chr2A:103,042,328...103,078,190

IL4R

interleukin 4 receptor

ISO

mRNA:increased expression:bile duct

PMID:18798553

RGD:2317263

Ensembl chr16:27,642,702...27,737,445

IL6

interleukin 6

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

NCBI chr 7:23,415,922...23,420,767

INS

insulin

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

KCND2

potassium voltage-gated channel subfamily D member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:34418280

NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430

KIT

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

KMT2C

lysine methyltransferase 2C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

KRAS proto-oncogene, GTPase

ISO

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

KRT7

keratin 7

ISO

PMID:18393293

RGD:2317308

NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341

LOC100986481

cytochrome c

ISO

PMID:19788692

RGD:2317615

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

LOC100987733

paternally-expressed gene 3 protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:53,830,193...53,860,760
Ensembl chr19:62,588,511...62,654,661

LOC100991392

serine protease 2

ISO

protein:increased expression:serum

PMID:8621252

RGD:2324908

NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587

MDM2

MDM2 proto-oncogene

disease_progression

ISO

protein:increased expression:intrahepatic bile duct (human)

PMID:15619210

RGD:2317417

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

MET proto-oncogene, receptor tyrosine kinase

disease_progression

ISO

protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)

PMID:14656942 PMID:16818635

RGD:2317578 RGD:2317601

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

MFSD4A

major facilitator superfamily domain containing 4A

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408

MGMT

O-6-methylguanine-DNA methyltransferase

ISO

DNA:hypermethylation:promoter (human)

PMID:17550320

RGD:2317632

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

MKI67

marker of proliferation Ki-67

disease_progression

ISO

PMID:12903495

RGD:2317705

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

MMP2

matrix metallopeptidase 2

disease_progression

ISO

protein:increased expression:bile duct

PMID:15213623 PMID:19629755

RGD:2324667 RGD:2325769

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

MMP9

matrix metallopeptidase 9

ISO

protein:increased expression:bile duct
mRNA:increased expression:bile duct

PMID:15213623 PMID:16463672

RGD:2324667 RGD:2325856

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

MSLN

mesothelin

ISO

CTD Direct Evidence: marker/mechanism

PMID:14576474

Ensembl chr16:777,146...783,449

MTHFR

methylenetetrahydrofolate reductase

susceptibility

ISO

DNA:polymorphism (human)

PMID:17201138

RGD:2317119

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

MUC1

mucin 1, cell surface associated

disease_progression

ISO

mRNA:increased expression:bile duct
protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:

PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217

RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

MUC16

mucin 16, cell surface associated

ISO

associated with Opisthorchiasis;protein:increased expression:serum

PMID:1653472

RGD:2325142

NCBI chr19:8,416,393...8,568,418

MUC2

mucin 2, oligomeric mucus/gel-forming

ISO

mRNA:decreased expression:bile duct

PMID:11680592

RGD:2324948

NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741

MUC3A

mucin 3A, cell surface associated

ISO

mRNA:decreased expression:bile duct

PMID:11680592

RGD:2324948

NCBI chr 7:92,974,006...92,993,990

MUC4

mucin 4, cell surface associated

disease_progression

ISO

protein:increased expression:bile duct

PMID:14752841 PMID:19082442

RGD:2303602 RGD:2324944

NCBI chr 3:193,050,895...193,114,931

MUC5AC

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

ISO

mRNA:increased expression:bile duct
protein:increased expression:serum

PMID:11680592 PMID:14508831

RGD:2324948 RGD:2324990

NCBI chr11:1,191,223...1,234,373

MUC5B

mucin 5B, oligomeric mucus/gel-forming

ISO

mRNA:decreased expression:bile duct

mucin 6, oligomeric mucus/gel-forming

ISO

protein:increased expression: :

PMID:10209489

RGD:2325167

NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927

NAT2

N-acetyltransferase 2

ISO

DNA:polymorphisms (human)

PMID:15901993

RGD:2317172

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

NCAM1

neural cell adhesion molecule 1

ISO

associated with hepatitis

PMID:12031086

RGD:2326079

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

NOS2

nitric oxide synthase 2

ISO

protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism

PMID:16094703 PMID:16818635

RGD:2325280

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

NOTCH1

notch receptor 1

ISO

protein:increased expression:cholangiocyte

PMID:15887117

RGD:2325330

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

NR1H4

nuclear receptor subfamily 1 group H member 4

disease_progression

ISO

mRNA:decreased expression:liver (rat)

PMID:24255171

RGD:15090822

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

OGG1

8-oxoguanine DNA glycosylase

disease_progression

ISO

DNA:loss of heterozygosity (human)

PMID:11260864 PMID:11866974

RGD:2317134 RGD:2317136

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

OSBP2

oxysterol binding protein 2

ISO

mRNA:increased expression:blood

PMID:21763455

RGD:41404644

NCBI chr22:11,719,017...11,933,841
Ensembl chr22:29,520,479...29,733,061

OSBPL7

oxysterol binding protein like 7

ISO

mRNA:increased expression:blood

PMID:21763455

RGD:41404644

NCBI chr17:9,715,464...9,729,950
Ensembl chr17:9,897,768...9,912,065

PANX2

pannexin 2

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045

PAWR

pro-apoptotic WT1 regulator

ISO

mRNA,protein:decreased expression:cholangiocyte:

PMID:20724592

RGD:9835357

NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796

PBRM1

polybromo 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

PES1

pescadillo ribosomal biogenesis factor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:34845814

NCBI chr22:11,604,897...11,620,187
Ensembl chr22:29,406,095...29,420,868

PIR

pirin

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr X:8,011,382...8,121,994
Ensembl chr X:15,294,099...15,404,004

PPIA

peptidylprolyl isomerase A

ameliorates

ISO

human cell line and construct in a mouse model

PMID:21871105

RGD:150429623

NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

PPP3CA

protein phosphatase 3 catalytic subunit alpha

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394

PREX2

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

sexual_dimorphism

ISO

DNA:substitutions, insertion/deletions: (human)

PMID:28000796

RGD:151665188

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

PRKACA

protein kinase cAMP-activated catalytic subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:26258846

NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205

PRKACB

protein kinase cAMP-activated catalytic subunit beta

ISO

CTD Direct Evidence: marker/mechanism

PMID:26258846

NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253

PRRG4

proline rich and Gla domain 4

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr11:32,790,274...32,816,067
Ensembl chr11:32,678,175...32,702,862

PRSS56

serine protease 56

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839

PTEN

phosphatase and tensin homolog

ISO

CTD Direct Evidence: marker/mechanism

PMID:23376645 PMID:27022031

RGD:12802341

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

PTGS2

prostaglandin-endoperoxide synthase 2

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

RASSF8

Ras association domain family member 8

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr12:60,246,885...60,361,888
Ensembl chr12:62,867,015...62,880,512

RNF39

ring finger protein 39

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 6:29,848,055...29,853,659

ring finger protein 43

exacerbates

ISO

CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human)

RGD:151361227

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

ROBO2

roundabout guidance receptor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309

RUNX3

RUNX family transcription factor 3

ISO

protein:decreased expression:bile duct

PMID:19827872

RGD:2324955

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

SLC4A4

solute carrier family 4 member 4

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 4:52,659,221...52,994,053
Ensembl chr 4:59,002,200...59,385,608

SLC5A5

solute carrier family 5 member 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:17408651

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

solute carrier family 7 member 5

disease_progression
treatment

ISO

PMID:24131658 PMID:25475870 PMID:28347255

RGD:151361214 RGD:151361287 RGD:151361294

NCBI chr16:68,512,407...68,552,763

SMAD family member 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

SOCS3

suppressor of cytokine signaling 3

severity

ISO

protein:decreased expression:bile duct (human)

PMID:26485275

RGD:11250478

NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066

SOX17

SRY-box transcription factor 17

severity

ISO

PMID:20816680

RGD:4889598

NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808

SOX2

SRY-box transcription factor 2

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

TGFB1

transforming growth factor beta 1

disease_progression

ISO

protein:increased expression:pancreas

PMID:12632524 PMID:16083599

RGD:1299231 RGD:2325020

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

TGFBR2

transforming growth factor beta receptor 2

ISO

mRNA:increased expression:bile duct

PMID:12632524

RGD:1299231

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

THBS1

thrombospondin 1

disease_progression

ISO

DNA:hypermethylation (human)

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325024 RGD:2325026 RGD:2325027

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

TNC

tenascin C

severity

ISO

PMID:20816680

RGD:4889598

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

TNFAIP3

TNF alpha induced protein 3

severity

ISO

protein:increased expression:bile duct (human)

PMID:26485275

RGD:11250478

NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819

tumor protein p53

ISO

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TTR

transthyretin

ISO

protein:decreased expression:blood serum (human)

PMID:18275060

RGD:151660506

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

VEGFA

vascular endothelial growth factor A

ISO

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

WDHD1

WD repeat and HMG-box DNA binding protein 1

ameliorates

ISO

PMID:30314946

RGD:156420141

NCBI chr14:35,528,981...35,614,145
Ensembl chr14:53,807,684...53,889,703

WNT9A

Wnt family member 9A

disease_progression

ISO

mRNA:altered expression:liver (human)

NCBI chr 1:203,320,990...203,350,599
Ensembl chr 1:208,300,609...208,327,191

extrahepatic bile duct adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BAP1

BRCA1 associated deubiquitinase 1

disease_progression

ISO

PMID:25536104

RGD:150340631

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

PBRM1

polybromo 1

disease_progression

ISO

PMID:25536104

RGD:150340631

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

RAC1

Rac family small GTPase 1

ISO

protein:increased expression:mucosa (human)

PMID:21537609

RGD:153350126

NCBI chr 7:7,039,379...7,068,866

solute carrier family 7 member 5

disease_progression

ISO

PMID:24890221

RGD:151361210

NCBI chr16:68,512,407...68,552,763

extrahepatic bile duct carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PKD1

polycystin 1, transient receptor potential channel interacting

ISO

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868

NCBI chr16:604,366...605,560

POLD1

DNA polymerase delta 1, catalytic subunit

ISO

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

XPO1

exportin 1

disease_progression

ISO

protein:increased expression:extrahepatic bile duct (human)

PMID:27279267

RGD:151665800

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

fibrolamellar carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

CA12

carbonic anhydrase 12

ISO

mRNA:increased expression:liver

PMID:28304380

RGD:153352326

NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008

catenin beta 1

ISO

protein:increased tyrosine phosphorylation:exon:

PMID:19101982

RGD:14402052

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

FGFR1

fibroblast growth factor receptor 1

ISO

protein:increased expression:liver:

PMID:24925055

RGD:11055933

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

PRKACA

protein kinase cAMP-activated catalytic subunit alpha

ISO

mRNA,protein:increased expression:liver (human)

PMID:27027723

RGD:151347845

NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205

gallbladder adenocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACE

angiotensin I converting enzyme

ISO

DNA:polymorphism: :rs4646994 (human)

PMID:20438364

RGD:2325207

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

CDK1

cyclin dependent kinase 1

ISO

protein:increased expression:gallbladder

PMID:15017593

RGD:2722465

NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434

discoidin domain receptor tyrosine kinase 2

disease_progression

ISO

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

IFITM1

interferon induced transmembrane protein 1

disease_progression

ISO

NCBI chr11:309,930...311,177
Ensembl chr11:353,236...354,986

gallbladder cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC regulator of WNT signaling pathway

disease_progression

ISO

DNA:SNP::rs11954856(human)

PMID:26715268

RGD:151356500

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

APOB

apolipoprotein B

susceptibility

ISO

DNA:SNP: :rs693 (human)

PMID:17696941 PMID:20082485

RGD:2325761 RGD:2325764

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

APOE

apolipoprotein E

susceptibility

ISO

DNA:SNP:intron:rs440446 (human)

PMID:18296645

RGD:2317550

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

AXIN2

axin 2

disease_progression

ISO

DNA:SNP::s4791171(human)

PMID:26715268

RGD:151356500

NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

B-Raf proto-oncogene, serine/threonine kinase

ISO

ClinVar Annotator: match by term: Gallbladder cancer

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

ISO

mRNA:increased expression:gallbladder

PMID:18497548

RGD:2324871

NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648

CALR

calreticulin

exacerbates

ISO

mRNA, protein:increased expression:gall bladder (human)

PMID:33591948

RGD:150521682

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

CCR5

C-C motif chemokine receptor 5

onset

ISO

DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)

PMID:18405329

RGD:2317570

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

catenin beta 1

ISO

ClinVar Annotator: match by term: Gallbladder cancer

PMID:10435629 PMID:26822237

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

CYP17A1

cytochrome P450 family 17 subfamily A member 1

susceptibility

ISO

DNA:transition:5' utr:-34T>C rs743572 (human)

PMID:16381022

RGD:2317619

NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514

CYP1A1

cytochrome P450 family 1 subfamily A member 1

ISO

DNA:polymorphism: :p.I462V (human)
DNA:transition: :6235T>C (human)

PMID:18287863 PMID:18990008

RGD:2317211 RGD:2317212

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

DPYD

dihydropyrimidine dehydrogenase

disease_progression

ISO

PMID:16619549

RGD:2317631

NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100

EGF

epidermal growth factor

susceptibility

ISO

DNA:SNP: :+61A>G (rs4444903)(human)

PMID:8093356 PMID:18571008

RGD:2317641 RGD:2317646

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

GLI1

GLI family zinc finger 1

disease_progression

ISO

DNA:SNP::rs2228226(human)

PMID:26715268

RGD:151356500

NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473

GSTM1

glutathione S-transferase mu 1

ISO

PMID:26925680

RGD:14700928

Ensembl chr 1:127,979,238...128,010,411

JUNB

JunB proto-oncogene, AP-1 transcription factor subunit

exacerbates

ISO

protein:increased expression:gall bladder (human)

PMID:26318166

RGD:11528126

NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974

KEAP1

kelch like ECH associated protein 1

ISO

DNA:missense mutations, frameshift mutations:cds:multiple (human)

PMID:18692501

RGD:6893398

NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604

KRAS proto-oncogene, GTPase

ISO

ClinVar Annotator: match by term: Gallbladder cancer

PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

LRP1B

LDL receptor related protein 1B

ameliorates

ISO

DNA:mutations:multiple: (human)

PMID:32898339

RGD:150429787

NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

ISO

ClinVar Annotator: match by term: Gallbladder cancer

PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

RBP4

retinol binding protein 4

disease_progression

ISO

associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human)

PMID:37273108

RGD:329849105

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

RICTOR

RPTOR independent companion of MTOR complex 2

ISO

DNA:CNV, amplification:exon (human)

PMID:24508317

RGD:152995522

NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830

SMAD family member 4

ISO

ClinVar Annotator: match by term: Gallbladder cancer

PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 More...

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

tumor protein p53

ISO

ClinVar Annotator: match by term: Gallbladder cancer

PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

XRCC1

X-ray repair cross complementing 1

susceptibility

ISO

DNA:polymorphisms: :p.R194W, p.R399Q (human)

PMID:19266243

RGD:2317128

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

gallbladder carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABO

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

ISO

PMID:7795450

RGD:2317512

NCBI chr 9:104,354,115...104,399,057
Ensembl chr 9:132,989,574...133,010,324

ACTR3

actin related protein 3

severity

ISO

Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)

PMID:23320827

RGD:11571623

NCBI chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729

ANTXR1

ANTXR cell adhesion molecule 1

severity

ISO

PMID:21545221

RGD:9684943

NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454

BIRC3

baculoviral IAP repeat containing 3

exacerbates

ISO

mRNA:increased expression:gall bladder (human)

PMID:28295868

RGD:153297817

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

CFL1

cofilin 1

severity

ISO

Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human)

PMID:23320827

RGD:11571623

NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806

CLPTM1L

CLPTM1 like

susceptibility

ISO

DNA:SNP, haplotype: :rs401681(human)

PMID:29450669

RGD:150530629

Ensembl chr 5:1,361,571...1,388,415

GPX3

glutathione peroxidase 3

severity

ISO

protein:decreased expression:gallbladder (human)

PMID:24167362

RGD:151665515

NCBI chr 5:146,447,939...146,456,476

interleukin 10

susceptibility

ISO

associated with Cholelithiasis

PMID:19065724

RGD:2317654

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

MTUS1

microtubule associated scaffold protein 1

disease_progression

ISO

PMID:31882471

RGD:25330344

NCBI chr 8:16,863,307...17,020,684

PTCH1

patched 1

disease_progression

ISO

PMID:22407314

RGD:150523794

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

RAC1

Rac family small GTPase 1

exacerbates

ISO

protein:increased expression:gallbladder (human)

PMID:21853342

RGD:155230819

NCBI chr 7:7,039,379...7,068,866

TERT

telomerase reverse transcriptase

susceptibility

ISO

DNA:SNP, haplotype: :rs2736100(human)

PMID:29450669

RGD:150530629

Ensembl chr 5:1,300,960...1,338,872

TGFA

transforming growth factor alpha

ISO

PMID:9542514

RGD:2317470

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

TJP1

tight junction protein 1

ISO

protein:decreased expression:gallbladder

PMID:19184677

RGD:2325030

NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878

TYMP

thymidine phosphorylase

disease_progression

ISO

PMID:18946757

RGD:2325157

NCBI chr22:30,772,088...30,776,618

UBR5

ubiquitin protein ligase E3 component n-recognin 5

ameliorates

ISO

human cell line in a mouse model

PMID:30775814

RGD:151665192

NCBI chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913

hepatoblastoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC regulator of WNT signaling pathway

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

APOA1

apolipoprotein A1

ISO

mRNA, protein:decreased expression:serum (human)

PMID:27974108

RGD:25671440

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

AT-rich interaction domain 1A

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:26822237

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

ATM serine/threonine kinase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

AXIN2

axin 2

ISO

protein:increased expression:liver:

PMID:11809809

RGD:151356508

NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

BARD1

BRCA1 associated RING domain 1

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 More...

NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145

BRCA2

BRCA2 DNA repair associated

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

C9H11orf65

chromosome 9 C11orf65 homolog

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 More...

NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886

CDH1

cadherin 1

ISO

protein:increased expression:liver

PMID:16465411

RGD:14402053

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CLDN1

claudin 1

severity

ISO

mRNA,protein:decreased expression:liver, embryonic tissue (human)

PMID:16647953

RGD:26884349

NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248

COL7A1

collagen type VII alpha 1 chain

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919

catenin beta 1

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

DHCR7

7-dehydrocholesterol reductase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 More...

NCBI chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715

DIS3L2

DIS3 like 3'-5' exoribonuclease 2

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:28492532 PMID:35495172

NCBI chr2B:119,187,659...119,558,347
Ensembl chr2B:238,030,931...238,347,570

DOCK8

dedicator of cytokinesis 8

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910

DPEP1

dipeptidase 1

ameliorates

ISO

human cells in mouse model

PMID:31541079

RGD:153344539

NCBI chr16:70,365,900...70,392,377
Ensembl chr16:89,975,105...89,997,978

DROSHA

drosha ribonuclease III

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 5:78,813,923...78,945,149
Ensembl chr 5:84,194,546...84,322,310

EP300

E1A binding protein p300

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

ERCC5

ERCC excision repair 5, endonuclease

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182

EXT2

exostosin glycosyltransferase 2

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447

FAH

fumarylacetoacetate hydrolase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098

FANCA

FA complementation group A

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147

FANCD2

FA complementation group D2

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

FANCD2OS

FANCD2 opposite strand

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702

FANCM

FA complementation group M

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 More...

NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958

FAS

Fas cell surface death receptor

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

FGFR3

fibroblast growth factor receptor 3

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:28492532 PMID:35495172

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

fumarate hydratase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

FLCN

folliculin

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172

NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160

FLNA

filamin A

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr X:143,799,088...143,825,282

FRMPD1

FERM and PDZ domain containing 1

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 9:37,497,210...37,595,867
Ensembl chr 9:38,421,706...38,519,025

GBA1

glucosylceramidase beta 1

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868

NCBI chr 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851

GLI3

GLI family zinc finger 3

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865

GPC3

glypican 3

ISO

protein:increased expression:liver (human)

PMID:23530909

RGD:243065128

NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441

IGF2

insulin like growth factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:23958494

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

JAG1

jagged canonical Notch ligand 1

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:25741868 PMID:36965188

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

JMJD1C

jumonji domain containing 1C

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332

KDR

kinase insert domain receptor

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

MET proto-oncogene, receptor tyrosine kinase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:25741868 PMID:27666373 PMID:28492532

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

MKI67

marker of proliferation Ki-67

ameliorates

ISO

human cells in mouse model

PMID:31541079

RGD:153344539

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

MSH2

mutS homolog 2

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

MSH6

mutS homolog 6

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

MUTYH

mutY DNA glycosylase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645

NAP1L1

nucleosome assembly protein 1 like 1

ISO

mRNA:increased expression:liver (human)

PMID:12935928

RGD:9590075

NCBI chr12:73,549,887...73,589,621
Ensembl chr12:76,402,906...76,441,815

NDRG4

NDRG family member 4

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr16:38,729,616...38,780,173
Ensembl chr16:57,857,414...57,907,557

NYNRIN

NYN domain and retroviral integrase containing

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905

PCNA

proliferating cell nuclear antigen

ISO

CTD Direct Evidence: marker/mechanism

PMID:11560253

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

RECQL

RecQ like helicase

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr12:64,796,383...64,829,165
Ensembl chr12:67,400,315...67,432,724

RECQL4

RecQ like helicase 4

ISO

ClinVar Annotator: match by term: Hepatoblastoma

Ensembl chr 8:144,267,101...144,276,985

REN

renin

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393

RHBDF2

rhomboid 5 homolog 2

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr17:70,418,630...70,449,510
Ensembl chr17:75,968,187...75,987,768

RPS19

ribosomal protein S19

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:12586610 PMID:25741868 PMID:28492532 PMID:37897121

NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953

SALL1

spalt like transcription factor 1

ISO

embryonal subtype;protein:increased expression:liver, nucleus (human)

PMID:23822878

RGD:11556217

NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819

SALL4

spalt like transcription factor 4

ISO

Embryonal Hepatoblastoma;protein:increased expression:liver (human)

PMID:23822878

RGD:11556217

NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589

SH2B3

SH2B adaptor protein 3

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:20404132 PMID:25741868

NCBI chr12:108,977,344...109,024,029

SLX4

SLX4 structure-specific endonuclease subunit

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

SMO

smoothened, frizzled class receptor

ISO

protein:increased expression:liver

PMID:21159571

RGD:150521618

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

SPOP

speckle type BTB/POZ protein

ISO

mRNA:decreased expression:liver (human)

PMID:24912477

RGD:153298925

NCBI chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623

STK11

serine/threonine kinase 11

ISO

ClinVar Annotator: match by term: Hepatoblastoma

Ensembl chr19:1,188,537...1,210,677

TGFA

transforming growth factor alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:11560253

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

TGFBR2

transforming growth factor beta receptor 2

ISO

ClinVar Annotator: match by term: Hepatoblastoma

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

tumor protein p53

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

VHL

von Hippel-Lindau tumor suppressor

ISO

ClinVar Annotator: match by term: Hepatoblastoma

PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 More...

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

ZFHX3

zinc finger homeobox 3

ISO

protein:increased expression:liver (human)

PMID:33368532

RGD:151361168

NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360

hepatocellular carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AADAT

aminoadipate aminotransferase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:162,283,569...162,313,720
Ensembl chr 4:174,353,766...174,383,471

ABCA1

ATP binding cassette subfamily A member 1

severity

ISO

mRNA:decreased expression:liver (human)

PMID:16941710 PMID:30580964

RGD:1598532 RGD:24922199

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

ABCB1

ATP binding cassette subfamily B member 1

susceptibility

ISO

DNA:polymorphism: :c.3751G>A(human)
DNA:polymorphism: : c.1465C > T(human)
CTD Direct Evidence: marker/mechanism

PMID:17510421 PMID:23488625 PMID:24175826 PMID:25625052

RGD:11041138 RGD:14700904 RGD:14700905

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

ABCB4

ATP binding cassette subfamily B member 4

ISO

CTD Direct Evidence: marker/mechanism
OMIM:114550

PMID:22022477

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

ABCC3

ATP binding cassette subfamily C member 3

ISO

mRNA:increased expression:liver

PMID:25842354

RGD:11535155

Ensembl chr17:49,603,268...49,659,318

ABCE1

ATP binding cassette subfamily E member 1

ISO

mRNA:increased expression:liver (human)

PMID:21932399

RGD:11041873

NCBI chr 4:137,445,210...137,476,309
Ensembl chr 4:149,105,912...149,137,028

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

ISO

PMID:32171747

RGD:126907997

NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941

ACACA

acetyl-CoA carboxylase alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651

ACE

angiotensin I converting enzyme

susceptibility

ISO

CTD Direct Evidence: therapeutic
DNA:insertion/deletion:intron 16:

PMID:16328049 PMID:25208933

RGD:11343535

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

ACER3

alkaline ceramidase 3

disease_progression

ISO

PMID:30097213

RGD:35673325

NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586

ACLY

ATP citrate lyase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:15,385,335...15,447,269
Ensembl chr17:15,615,994...15,664,800

ACO2

aconitase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200

ACOX1

acyl-CoA oxidase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:12771043 PMID:15565109

NCBI chr17:69,890,817...69,928,342
Ensembl chr17:75,445,923...75,479,571

ACSL4

acyl-CoA synthetase long chain family member 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:98,731,109...98,841,067
Ensembl chr X:109,206,964...109,310,914

ACTB

actin beta

ISO

CTD Direct Evidence: marker/mechanism

PMID:19363144 PMID:21472284

ADAMTS1

ADAM metallopeptidase with thrombospondin type 1 motif 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:19514085

NCBI chr21:13,270,668...13,279,217
Ensembl chr21:26,656,370...26,665,485

ADAMTS13

ADAM metallopeptidase with thrombospondin type 1 motif 13

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,541,051...104,582,574
Ensembl chr 9:133,156,761...133,193,707

ADD1

adducin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

ADGRG7

adhesion G protein-coupled receptor G7

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:97,702,101...97,788,046
Ensembl chr 3:104,381,736...104,468,487

ADH4

alcohol dehydrogenase 4 (class II), pi polypeptide

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:91,522,444...91,543,086
Ensembl chr 4:102,183,956...102,206,923

ADIPOQ

adiponectin, C1Q and collagen domain containing

susceptibility

ISO

DNA:SNP:intron:+276T>G (rs1501299) (human)

PMID:23740135

RGD:14401720

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

ADRA1A

adrenoceptor alpha 1A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:25,947,996...26,138,022
Ensembl chr 8:22,853,677...23,044,388

ADRA2B

adrenoceptor alpha 2B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472

AFP

alpha fetoprotein

severity
treatment
disease_progression

ISO

protein:increased expression:serum (human)
CTD Direct Evidence: marker/mechanism
associated with hepatitis B

RGD:125097525 RGD:126790579 RGD:126790583 RGD:14401581 RGD:152177911

PMID:9029167 PMID:15276417 PMID:22147961 PMID:22392353 PMID:24012840 More...

NCBI chr 4:50,739,197...50,758,459
Ensembl chr 4:56,571,519...56,590,391

AICDA

activation induced cytidine deaminase

ISO

PMID:18997814

RGD:127285629

NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917

AK3

adenylate kinase 3

ISO

protein:decreased expression:liver

PMID:17203974

RGD:13842477

NCBI chr 9:4,541,984...4,576,341
Ensembl chr 9:4,732,847...4,762,900

AKR1A1

aldo-keto reductase family 1 member A1

ISO

CTD Direct Evidence: marker/mechanism

PMID:32805337

NCBI chr 1:44,853,867...44,871,764
Ensembl chr 1:46,211,859...46,230,072

AKR1B1

aldo-keto reductase family 1 member B

ISO

protein:increased expression:liver (human)
protein:increased expression:liver (rat)

PMID:19422879 PMID:21683810

RGD:5509919 RGD:8548685

NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095

AKR1B10

aldo-keto reductase family 1 member B10

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:126,486,012...126,499,852
Ensembl chr 7:138,992,835...139,006,003

AKT1

AKT serine/threonine kinase 1

treatment
exacerbates

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver

PMID:25999787 PMID:31801250 PMID:32045588 PMID:37460115

RGD:151893509 RGD:152177911 RGD:408364960

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

AKT2

AKT serine/threonine kinase 2

ISO

protein:increased phosphorylation:liver cancer cell (rat)
protein:increased phosphorylation:liver (mouse)

PMID:19309364 PMID:28100771

RGD:127285675 RGD:2313299

NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271

ALB

albumin

susceptibility

ISO

associated with hepatitis C;protein:decreased expression:serum
protein:decreased expression:serum (human)

PMID:22392353 PMID:23892757 PMID:29040987

RGD:11035269 RGD:125097525 RGD:14694841

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

ALDH2

aldehyde dehydrogenase 2 family member

susceptibility
no_association
severity

ISO

associated with alcoholic liver cirrhosis;DNA:missense mutation:cds:p.E487K (human)
associated with alcohol use disorder;DNA:missense mutation:cds: (human)
protein:decreased expression: liver (human)
associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human)
associated with hepatitis C:DNA:SNP:exon 12 (human)
DNA:missense mutation:exon 12: (human)
DNA:missense mutation:cds, exon 12:p.E487K (human)
DNA:missense mutation:cds: (rs671) (human)
mRNA, protein:decreased expression:liver (human)

RGD:11054822 RGD:14696699 RGD:14696778 RGD:14696779 RGD:14700899 RGD:15036809 RGD:15042857 RGD:15042859 RGD:15042862

PMID:1916152 PMID:10737710 PMID:12940444 PMID:18439068 PMID:25778454 More...

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

ALDH7A1

aldehyde dehydrogenase 7 family member A1

severity

ISO

mRNA:altered expression:liver tumor (human)

NCBI chr 5:121,946,527...122,000,273
Ensembl chr 5:127,718,978...127,771,047

ALDOC

aldolase, fructose-bisphosphate C

ISO

mRNA:increased expression:liver

PMID:3830170

RGD:2301136

NCBI chr17:28,198,895...28,202,950
Ensembl chr17:28,700,976...28,706,507

ALX4

ALX homeobox 4

ameliorates

ISO

mRNA, protein:decreased expression:liver

PMID:28081728 PMID:31132711

RGD:153323329 RGD:153323330

NCBI chr11:44,219,865...44,269,597

ANGPTL6

angiopoietin like 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:9,641,164...9,651,909

ANK3

ankyrin 3

ISO

protein:decreased expression:liver

PMID:26652480

RGD:153344559

NCBI chr10:56,560,589...57,269,952
Ensembl chr10:58,790,696...59,602,954

ANLN

anillin, actin binding protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137

ANTXR1

ANTXR cell adhesion molecule 1

treatment

ISO

PMID:20650339

RGD:9684932

NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454

ANXA10

annexin A10

disease_progression

ISO

mRNA:decreased expression:liver (human)

NCBI chr 4:160,297,246...160,394,825
Ensembl chr 4:172,412,718...172,472,033

ANXA2

annexin A2

ISO

mRNA, protein:increased expression:liver (human)

PMID:33675609

RGD:152999436

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

ANXA4

annexin A4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:69,686,651...69,869,340
Ensembl chr2A:70,902,260...70,986,917

ANXA6

annexin A6

disease_progression

ISO

associated with tumor vascularization; protein:decreased expression:liver tumor (human)

NCBI chr 5:146,528,446...146,585,186
Ensembl chr 5:152,530,445...152,652,231

APC regulator of WNT signaling pathway

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma

OMIM
ClinVar

PMID:1316610 PMID:8381579 PMID:8381580 PMID:8395941 PMID:9101302 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

APCS

amyloid P component, serum

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,937,472...134,938,512
Ensembl chr 1:138,734,046...138,735,093

APEX1

apurinic/apyrimidinic endodeoxyribonuclease 1

treatment

ISO

CTD Direct Evidence: marker/mechanism

PMID:25109342 PMID:33841550

NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542

APLN

apelin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:118,775,509...118,785,224

APOA1

apolipoprotein A1

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
associated with hepatitis B;
protein:decreased expression:plasma (human)

PMID:21472284 PMID:23935864 PMID:31211449

RGD:153350082 RGD:25671438

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

APOA2

apolipoprotein A2

ISO

associated with hepatitis B; mRNA:increased expression:liver

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

APOA4

apolipoprotein A4

disease_progression

ISO

associated with hepatitis B;

NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382

APOC1

apolipoprotein C1

disease_progression

ISO

associated with hepatitis B;

apolipoprotein C2

ISO

associated with hepatitis B; mRNA:increased expression:liver

NCBI chr19:41,892,954...41,896,461

APOC3

apolipoprotein C3

susceptibility
disease_progression

ISO

associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human)
associated with hepatitis B;

PMID:27547913 PMID:31211449

RGD:153344620 RGD:153350082

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

APOC4

apolipoprotein C4

disease_progression

ISO

associated with hepatitis B;

NCBI chr19:41,889,099...41,892,546

APOE

apolipoprotein E

ISO

protein:increased expression:liver, serum (mouse)

PMID:21644509

RGD:6903288

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

APOF

apolipoprotein F

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,552,589...32,554,943
Ensembl chr12:32,806,130...32,807,641

APRT

adenine phosphoribosyltransferase

ISO

protein:increased activity:hepatoma (rat)

PMID:6327016

RGD:5135035

NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504

androgen receptor

ISO

CTD Direct Evidence: therapeutic

PMID:18639551

NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357

ARG1

arginase 1

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)

PMID:17210712 PMID:30901224

RGD:152995286 RGD:4140476

NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162

ARHGAP11A

Rho GTPase activating protein 11A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:11,109,968...11,134,362
Ensembl chr15:29,947,018...29,972,748

ARHGAP44

Rho GTPase activating protein 44

exacerbates

ISO

protein:decreased expression:liver (human)

PMID:31136984

RGD:401901276

NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457

ARHGEF39

Rho guanine nucleotide exchange factor 39

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732

AT-rich interaction domain 1A

treatment
exacerbates

ISO

mRNA, protein:increased expression:liver (human)
mRNA, protein:decreased expression:liver (human)
CTD Direct Evidence: marker/mechanism
human gene in mouse model
associated with non-alcoholic steatohepatitis

RGD:11344640 RGD:125097485 RGD:125097495 RGD:125097519 RGD:126790634

PMID:22561517 PMID:22634756 PMID:22922871 PMID:25975202 PMID:26569409 More...

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

ARID1B

AT-rich interaction domain 1B

ISO

CTD Direct Evidence: marker/mechanism

PMID:22634756

NCBI chr 6:154,581,148...155,018,706

ARID2

AT-rich interaction domain 2

exacerbates
disease_progression

ISO

associated with hepatitis B;protein:decreased expression:liver
CTD Direct Evidence: marker/mechanism

RGD:150340708 RGD:150340711 RGD:150340712 RGD:150429631

PMID:21822264 PMID:22634756 PMID:25701229 PMID:27351279 PMID:28498550 More...

NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564

ARID3A

AT-rich interaction domain 3A

ISO

CTD Direct Evidence: marker/mechanism

PMID:35179300

NCBI chr19:157,094...207,676

ARRB2

arrestin beta 2

treatment

ISO

PMID:33841550

NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517

ASF1B

anti-silencing function 1B histone chaperone

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,685,617...13,702,367
Ensembl chr19:14,411,127...14,428,917

ASL

argininosuccinate lyase

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)

NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472

ASNS

asparagine synthetase (glutamine-hydrolyzing)

ISO

protein:increased activity:serum (rat)

PMID:10081

RGD:2316006

NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046

ASPG

asparaginase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:84,711,400...84,739,769
Ensembl chr14:104,517,278...104,544,589

ASPM

assembly factor for spindle microtubules

disease_progression

ISO

CTD Direct Evidence: marker/mechanism

PMID:18676753 PMID:28284560

RGD:13439743

NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810

ASS1

argininosuccinate synthase 1

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)

PMID:12359751 PMID:30901224

RGD:152995286 RGD:4140479

NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036

ATG101

autophagy related 101

disease_progression

ISO

PMID:35592424

RGD:153350091

NCBI chr12:36,685,897...36,693,613
Ensembl chr12:37,462,533...37,470,062

ATG7

autophagy related 7

ISO

CTD Direct Evidence: marker/mechanism

PMID:29191453

NCBI chr 3:11,208,600...11,488,757
Ensembl chr 3:11,554,100...11,833,398

ATM serine/threonine kinase

exacerbates

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (human)

PMID:12866955 PMID:19919837

RGD:126781750

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

ATP5PB

ATP synthase peripheral stalk-membrane subunit b

ISO

associated with hepatitis C

PMID:18932288

RGD:14696822

NCBI chr 1:114,110,749...114,122,715
Ensembl chr 1:126,224,725...126,235,897

ATP5PD

ATP synthase peripheral stalk subunit d

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,986,362...68,994,246
Ensembl chr17:74,541,363...74,549,700

AURKA

aurora kinase A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339

AURKB

aurora kinase B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129

AXIN1

axin 1

disease_progression

ISO

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)

RGD:14402039 RGD:150530482

PMID:10700176 PMID:25741868 PMID:26968103 PMID:28492532 PMID:31514071 More...

Ensembl chr16:278,239...337,891

AXIN2

axin 2

ISO

protein:increased expression:liver:

PMID:11809809

RGD:151356508

NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

AZIN1

antizyme inhibitor 1

disease_progression

ISO

RNA:increased editing:liver

PMID:23291631

RGD:14700705

NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604

BANF1

barrier to autointegration nuclear assembly factor 1

treatment

ISO

mRNA, protein:increased expression:liver (human)
mRNA, protein:increased expression:liver (rat)

PMID:29059470

RGD:155791679

NCBI chr11:61,366,480...61,368,547
Ensembl chr11:64,693,447...64,695,509

BAX

BCL2 associated X, apoptosis regulator

treatment

ISO

PMID:33841550

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

BCL2

BCL2 apoptosis regulator

treatment

ISO

mRNA:increased expression:liver (mouse)

PMID:28100771 PMID:33841550

RGD:127285675 RGD:152998960

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

BCL2L1

BCL2 like 1

treatment

ISO

CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:increased expression:liver (mouse)

PMID:10629087 PMID:11509945 PMID:28100771 PMID:33841550

RGD:127285675 RGD:152998960

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

BCO2

beta-carotene oxygenase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:107,056,525...107,105,358
Ensembl chr11:110,899,703...110,942,547

BCORL1

BCL6 corepressor like 1

disease_progression

ISO

PMID:26879601 PMID:29679906

RGD:11556159 RGD:150340705

NCBI chr X:119,108,049...119,185,165
Ensembl chr X:129,403,888...129,479,297

BHMT

betaine--homocysteine S-methyltransferase

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)

NCBI chr 5:36,181,183...36,201,833
Ensembl chr 5:36,670,854...36,728,993

BHMT2

betaine--homocysteine S-methyltransferase 2

severity

ISO

mRNA:altered expression:liver tumor (human)

NCBI chr 5:36,223,429...36,242,187
Ensembl chr 5:36,670,854...36,728,993

BID

BH3 interacting domain death agonist

ISO

CTD Direct Evidence: marker/mechanism

PMID:15289866

NCBI chr22:1,164,787...1,205,051
Ensembl chr22:16,594,186...16,632,844

BIRC3

baculoviral IAP repeat containing 3

exacerbates
treatment
ameliorates

ISO

associated with hepatitis B;mRNA, protein:increased expression:liver (human)
human cell line in a mouse model

PMID:22682366 PMID:22820591 PMID:30210622 PMID:30368883 PMID:33310033

RGD:152998937 RGD:152998984 RGD:152998986 RGD:152998988 RGD:152999010

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

BIRC5

baculoviral IAP repeat containing 5

disease_progression

ISO

CTD Direct Evidence: marker/mechanism|therapeutic
mRNA:increased expression:liver (human)

PMID:16086872 PMID:20514400 PMID:31964418

RGD:153344516

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

BIRC7

baculoviral IAP repeat containing 7

exacerbates

ISO

mRNA:increased expression:liver (human)

PMID:31964418

RGD:153344516

NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932

BLZF1

basic leucine zipper nuclear factor 1

disease_progression

ISO

PMID:26342799

RGD:14398326

NCBI chr 1:144,850,261...144,870,672
Ensembl chr 1:148,572,418...148,592,827

BMI1

BMI1 proto-oncogene, polycomb ring finger

treatment

ISO

PMID:26919246

RGD:14928318

NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479

BMPER

BMP binding endothelial regulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:34,508,583...34,759,860
Ensembl chr 7:34,903,178...35,152,110

B-Raf proto-oncogene, serine/threonine kinase

ISO

CTD Direct Evidence: marker/mechanism

PMID:27222248

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

BSG

basigin (Ok blood group)

ISO

CTD Direct Evidence: marker/mechanism

PMID:36574092

Ensembl chr19:539,815...551,456

BTG2

BTG anti-proliferation factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:18393292

NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:91,393,317...91,433,579
Ensembl chr2A:111,793,236...111,858,392

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648

C15H14orf180

chromosome 15 C14orf180 homolog

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:85,226,995...85,242,300
Ensembl chr14:105,023,477...105,033,370

complement C3

ISO

PMID:23245919

RGD:11040806

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

complement C9

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725

CA12

carbonic anhydrase 12

ameliorates
disease_progression

ISO

mRNA:altered expression:liver

PMID:29900055 PMID:31934040 PMID:35362480

RGD:153352325 RGD:153352328 RGD:155226869

NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008

CA2

carbonic anhydrase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580

CA9

carbonic anhydrase 9

ISO

mRNA:altered expression:liver

PMID:29900055

RGD:155226869

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

CAB39

calcium binding protein 39

disease_progression

ISO

PMID:28605041

RGD:14398832

NCBI chr2B:117,965,688...118,074,063
Ensembl chr2B:236,809,549...236,870,646

CAD

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

ISO

mRNA:increased expression:liver
DNA:amplification:cds (rat)

PMID:2888462 PMID:2914957 PMID:7053379

RGD:10755426 RGD:2303530 RGD:5132587

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

CADM1

cell adhesion molecule 1

ISO

DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver

PMID:17428255

RGD:2289095

NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324

CADM2

cell adhesion molecule 2

disease_progression

ISO

mRNA, protein:decreased expression:liver

PMID:24240726

RGD:15092075

NCBI chr 3:85,076,738...86,200,515
Ensembl chr 3:87,200,482...88,310,438

CALML3

calmodulin like 3

severity

ISO

protein:decreased expression:liver (human)

PMID:29445139

RGD:151665319

NCBI chr10:5,565,223...5,567,471
Ensembl chr10:5,551,906...5,552,355

CALR

calreticulin

treatment
exacerbates

ISO

human cells and recombinant gene in a mouse model
protein:increased expression:liver (human)

PMID:12096119 PMID:24997628 PMID:27055635

RGD:150521681 RGD:150521690 RGD:150521691

NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416

CAMK2N1

calcium/calmodulin dependent protein kinase II inhibitor 1

ISO

PMID:23651211

RGD:18337283

NCBI chr 1:19,437,761...19,441,573
Ensembl chr 1:20,479,562...20,482,600

CAP2

cyclase associated actin cytoskeleton regulatory protein 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,248,751...17,411,593
Ensembl chr 6:17,608,046...17,770,160

CARM1

coactivator associated arginine methyltransferase 1

ISO

mRNA,protein:increased expression:liver:

PMID:23912631

RGD:9586718

NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948

CASP3

caspase 3

treatment

ISO

PMID:29133031 PMID:33841550

RGD:13782296 RGD:152998960

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

CASP8

caspase 8

severity
treatment

ISO

associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human)

OMIM
RGD

PMID:28643196 PMID:29133031

RGD:13782296 RGD:14695027

NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468

CASP9

caspase 9

treatment

ISO

PMID:29133031

RGD:13782296

NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266

CAT

catalase

disease_progression

ISO

associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human)
CTD Direct Evidence: marker/mechanism

PMID:21907168 PMID:33010264

RGD:27095879

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

CBFB

core-binding factor subunit beta

ISO

mRNA:decreased expression:liver

PMID:17094378

RGD:126775147

NCBI chr16:47,373,543...47,446,783

CBL

Cbl proto-oncogene

disease_progression

ISO

PMID:26474280

RGD:11536137

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

CBR1

carbonyl reductase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:21056497

NCBI chr21:22,440,726...22,443,950
Ensembl chr21:35,800,177...35,803,458

CBX2

chromobox 2

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545

CBX4

chromobox 4

disease_progression

ISO

protein:increased expression:cytoplasm:

PMID:23943028 PMID:24838576

RGD:9586738 RGD:9586739

NCBI chr17:73,913,264...73,919,540
Ensembl chr17:79,449,919...79,458,866

CBX7

chromobox 7

ISO

mRNA:decreased expression:liver

PMID:22041561

RGD:9587355

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

CCBE1

collagen and calcium binding EGF domains 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222

CCL1

C-C motif chemokine ligand 1

ISO

mRNA:increased expression:liver (mouse)

NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341

CCL13

C-C motif chemokine ligand 13

ISO

mRNA:increased expression:liver (mouse)

NCBI chr17:22,430,633...22,432,893
Ensembl chr17:22,723,888...22,726,381

CCL14

C-C motif chemokine ligand 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,809,234...20,812,370
Ensembl chr17:21,104,695...21,107,844

CCL2

C-C motif chemokine ligand 2

treatment

ISO

RNA:increased expression:liver

PMID:12679798 PMID:22402625 PMID:27980102

RGD:14995459 RGD:14995468 RGD:14995927

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

CCL23

C-C motif chemokine ligand 23

ISO

mRNA:increased expression:liver (mouse)

NCBI chr17:20,778,008...20,782,929
Ensembl chr17:21,073,882...21,078,794

CCL5

C-C motif chemokine ligand 5

susceptibility
treatment

ISO

DNA:polymorphisms:promoter:-403G>A,-28C>G (human)
associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human)

PMID:21610221 PMID:22374185 PMID:28011329

RGD:14995306 RGD:14995333 RGD:14995338

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

CCN1

cellular communication network factor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:17699798

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

CCNA1

cyclin A1

ISO

CTD Direct Evidence: marker/mechanism

PMID:12029619

NCBI chr13:17,649,064...17,660,550
Ensembl chr13:36,080,331...36,092,078

CCNB1

cyclin B1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332

CCNB2

cyclin B2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:38,075,106...38,095,699
Ensembl chr15:56,382,391...56,402,299

CCND1

cyclin D1

susceptibility

ISO

associated with Hepatitis B, Chronic;DNA:SNP:splice-site mutation:870G>A (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (mouse)

RGD:127285675 RGD:14401586

PMID:12029619 PMID:19919837 PMID:22649188 PMID:25822088 PMID:25851350 More...

NCBI chr11:64,737,006...64,750,353

CCND2

cyclin D2

disease_progression
susceptibility
severity

ISO

associated with hepatitis B
associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human)
DNA:hypermethylation:CpG site

PMID:22004425 PMID:31059558 PMID:33320844

RGD:151664743 RGD:151665109 RGD:151665169

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

CCNE1

cyclin E1

ameliorates

ISO

CTD Direct Evidence: marker/mechanism

PMID:12029619 PMID:17196522 PMID:22634754 PMID:28100771 PMID:29551768

RGD:127285675 RGD:153297807 RGD:2289277

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

CCNF

cyclin F

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438

CCNG1

cyclin G1

severity
treatment
disease_progression

ISO

protein:decreased expression:liver (human)
human cells in mouse model
protein:increased expression:liver (human)

RGD:151356922 RGD:151356932 RGD:151356933 RGD:151356967 RGD:151356970 RGD:151356981 RGD:151361198 RGD:151361200

PMID:19584283 PMID:22835824 PMID:23804702 PMID:24034575 PMID:25431954 More...

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

CCNG2

cyclin G2

ISO

PMID:27982046

RGD:151361200

NCBI chr 4:47,034,502...47,044,475
Ensembl chr 4:52,870,692...52,882,330

CCR1

C-C motif chemokine receptor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:16284949

NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755

CD163

CD163 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

CD274

CD274 molecule

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
associated with hepatitis B
associated with hepatitis B

PMID:21912640 PMID:22396772 PMID:30267213

RGD:40818240 RGD:41410800

NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402

CD276

CD276 molecule

ISO

CTD Direct Evidence: therapeutic

PMID:16217749

NCBI chr15:52,594,719...52,625,047

CD34

CD34 molecule

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:183,459,028...183,489,583
Ensembl chr 1:188,272,551...188,297,384

CD40LG

CD40 ligand

ISO

PMID:19016771

RGD:2313413

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

CD5L

CD5 molecule like

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:133,192,387...133,203,293
Ensembl chr 1:136,985,701...136,996,263

CD68

CD68 molecule

severity

ISO

protein:increased expression:liver (human)

PMID:28656201

RGD:40924686

NCBI chr17:7,610,725...7,613,696
Ensembl chr17:7,596,947...7,599,981

CDC20

cell division cycle 20

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:42,660,338...42,664,618
Ensembl chr 1:44,039,971...44,044,497

CDC25C

cell division cycle 25C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698

CDC27

cell division cycle 27

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma

NCBI chr17:10,259,194...10,331,011
Ensembl chr17:10,473,646...10,545,549

CDC45

cell division cycle 45

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195

CDC6

cell division cycle 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972

CDCA2

cell division cycle associated 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:24,739,705...24,788,898
Ensembl chr 8:21,650,086...21,697,584

CDCA3

cell division cycle associated 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364

CDCA8

cell division cycle associated 8

disease_progression

ISO

mRNA:increased expression:liver (human)
CTD Direct Evidence: marker/mechanism

PMID:28284560 PMID:35693827

NCBI chr 1:36,965,470...36,982,761
Ensembl chr 1:38,314,597...38,331,625

CDH1

cadherin 1

severity

ISO

DNA:hypermethylation
protein:decreased expression:liver
mRNA:increased expression:liver

PMID:17295234 PMID:18837082 PMID:24840851 PMID:30697077

RGD:14402045 RGD:14402046 RGD:14402047 RGD:2289638

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CDH13

cadherin 13

ISO

CTD Direct Evidence: marker/mechanism

PMID:18425332 PMID:18553387 PMID:28284560

NCBI chr16:63,255,482...64,418,053
Ensembl chr16:82,883,184...83,808,996

CDK1

cyclin dependent kinase 1

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (human)

PMID:19136513 PMID:28284560

RGD:2316317

NCBI chr10:57,314,692...57,331,261
Ensembl chr10:59,647,993...59,664,434

CDK12

cyclin dependent kinase 12

exacerbates

ISO

mRNA, protein:increased expression:liver (human)

PMID:31519701

RGD:151361172

NCBI chr17:17,721,266...17,826,521
Ensembl chr17:17,970,248...18,040,763

CDK13

cyclin dependent kinase 13

onset

ISO

DNA:amplification: :

PMID:22912832

RGD:155641228

NCBI chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683

CDK14

cyclin dependent kinase 14

ISO

CTD Direct Evidence: marker/mechanism

PMID:22922871

NCBI chr 7:82,609,791...83,216,851
Ensembl chr 7:96,211,305...96,731,767

CDK4

cyclin dependent kinase 4

treatment

ISO

CTD Direct Evidence: marker/mechanism

PMID:26189965 PMID:33841550

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

CDKN1A

cyclin dependent kinase inhibitor 1A

ISO

OMIM:114550

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

CDKN1B

cyclin dependent kinase inhibitor 1B

ISO

CTD Direct Evidence: marker/mechanism

PMID:20698225

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

CDKN1C

cyclin dependent kinase inhibitor 1C

severity

ISO

protein:decreased expression:liver (human)

PMID:26606000

RGD:11354707

NCBI chr11:2,908,537...2,911,134

CDKN2A

cyclin dependent kinase inhibitor 2A

severity

ISO

Protein:decreased expression:liver
ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:9185756 PMID:14508519 PMID:16317707 PMID:25741868 PMID:25780468 More...

RGD:1600816

NCBI chr 9:21,803,862...21,831,322

CDKN2B

cyclin dependent kinase inhibitor 2B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156

CDKN2C

cyclin dependent kinase inhibitor 2C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,214,767...50,221,465
Ensembl chr 1:51,704,528...51,718,374

CDKN3

cyclin dependent kinase inhibitor 3

severity
treatment

ISO

mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
associated with alcoholism; protein:increased expression:liver
protein:decreased expression:liver

PMID:22390936 PMID:23292002 PMID:27314282 PMID:28284560

RGD:15090800 RGD:15090801 RGD:15090802

NCBI chr14:34,984,819...35,008,807
Ensembl chr14:53,263,584...53,287,113

CDT1

chromatin licensing and DNA replication factor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823

CEBPA

CCAAT enhancer binding protein alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:16288022 PMID:21785164

NCBI chr19:30,223,567...30,226,204

CEBPB

CCAAT enhancer binding protein beta

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (human)

PMID:14563831 PMID:30659195

RGD:40903042

NCBI chr20:46,533,163...46,535,282

CEBPD

CCAAT enhancer binding protein delta

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,167,256...44,168,545

CELSR3

cadherin EGF LAG seven-pass G-type receptor 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:48,557,976...48,586,051
Ensembl chr 3:49,639,942...49,667,335

CENPA

centromere protein A

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (human)

PMID:21956590 PMID:28284560

RGD:36947377

NCBI chr2A:26,785,301...26,800,178

CENPE

centromere protein E

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:95,562,005...95,654,397
Ensembl chr 4:106,185,283...106,277,229

CENPF

centromere protein F

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518

CENPM

centromere protein M

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:22,831,313...22,839,947
Ensembl chr22:40,915,404...40,923,765

CENPU

centromere protein U

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:176,858,733...176,899,867
Ensembl chr 4:189,085,238...189,124,453

CENPW

centromere protein W

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,125,492...124,272,450
Ensembl chr 6:128,242,724...128,251,528

CEP131

centrosomal protein 131

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:75,614,593...75,648,730
Ensembl chr17:81,343,396...81,376,891

CEP164

centrosomal protein 164

susceptibility

ISO

associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human)

PMID:22004425

RGD:151665169

NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516

CEP55

centrosomal protein 55

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:90,239,770...90,275,156
Ensembl chr10:93,750,177...93,784,890

CETP

cholesteryl ester transfer protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:37,239,756...37,261,859
Ensembl chr16:56,374,363...56,396,103

CFP

complement factor properdin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,060,106...40,066,720
Ensembl chr X:47,956,191...47,961,965

CHAF1B

chromatin assembly factor 1 subunit B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575

CHD4

chromodomain helicase DNA binding protein 4

exacerbates

ISO

mRNA:increased expression:liver (human)
protein:increased expression:liver (human)

PMID:26095183 PMID:28486105 PMID:32070428

RGD:11571740 RGD:153323299 RGD:153323308

NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076

CHD5

chromodomain helicase DNA binding protein 5

ISO

mRNA:decreased expression:liver

PMID:26517514

RGD:11537550

NCBI chr 1:4,867,636...4,947,401
Ensembl chr 1:6,125,525...6,191,991

CKAP2L

cytoskeleton associated protein 2 like

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,293,727...89,322,182
Ensembl chr2A:113,747,536...113,775,619

CKAP4

cytoskeleton associated protein 4

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human)

NCBI chr12:103,817,736...103,827,575
Ensembl chr12:107,212,467...107,221,842

CLDN1

claudin 1

severity

ISO

protein:decreased expression:liver (human)
protein:increased expression:liver (human)
associated with liver cirrhosis;protein:increased expression:liver (human)

PMID:17270214 PMID:24696415 PMID:24815833

RGD:26884345 RGD:26884348 RGD:26884352

NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248

CLEC1B

C-type lectin domain family 1 member B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,037,928...10,045,945
Ensembl chr12:10,286,838...10,293,153

CLEC4G

C-type lectin domain family 4 member G

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:7,015,848...7,019,396
Ensembl chr19:7,870,730...7,873,631

CLPTM1L

CLPTM1 like

susceptibility
disease_progression

ISO

DNA:SNPs::rs401681(human)
DNA:SNP: :rs401681(human)

PMID:25339005 PMID:29042796

RGD:150530496 RGD:150537100

Ensembl chr 5:1,361,571...1,388,415

CLTRN

collectrin, amino acid transport regulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:8,255,666...8,293,354
Ensembl chr X:15,535,069...15,575,268

CNDP1

carnosine dipeptidase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879

CNTNAP4

contactin associated protein family member 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:56,512,541...57,138,499
Ensembl chr16:76,199,706...76,484,466

COL15A1

collagen type XV alpha 1 chain

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:70,033,818...70,160,659
Ensembl chr 9:98,153,379...98,278,663

COL18A1

collagen type XVIII alpha 1 chain

severity

ISO

Protein:increased expression

PMID:15739185

RGD:1600906

NCBI chr21:31,720,358...31,834,470

COLEC10

collectin subfamily member 10

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:115,758,592...115,798,548
Ensembl chr 8:118,277,484...118,317,271

COMT

catechol-O-methyltransferase

ISO

CTD Direct Evidence: marker/mechanism

PMID:15341023

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

COPS5

COP9 signalosome subunit 5

severity

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (human)

PMID:20698225 PMID:26606000

RGD:11354707

NCBI chr 8:63,586,062...63,605,213
Ensembl chr 8:65,247,950...65,266,511

ceruloplasmin

ISO

CTD Direct Evidence: marker/mechanism

PMID:19229483

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

CPEB3

cytoplasmic polyadenylation element binding protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:88,794,186...89,038,808
Ensembl chr10:92,320,240...92,506,089

CPS1

carbamoyl-phosphate synthase 1

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)

NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728

CREBBP

CREB binding protein

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA

PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More...

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

CRHBP

corticotropin releasing hormone binding protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:38,327,305...38,343,901
Ensembl chr 5:38,845,925...38,869,549

CRP

C-reactive protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:135,062,102...135,064,402

CSF1R

colony stimulating factor 1 receptor

severity
exacerbates

ISO

protein:increased expression: liver (human)
DNA:hypomethylation:promoter (human)
protein:increased expression:liver (human)
mRNA:increased expression:liver (human)

PMID:11412385 PMID:14969845 PMID:20551429 PMID:32724427 PMID:32760707

RGD:150524279 RGD:150524282 RGD:150524286 RGD:150524301 RGD:150524302

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

CSF2

colony stimulating factor 2

treatment

ISO

PMID:12731087

RGD:10450243

NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146

CSK

C-terminal Src kinase

ISO

protein:decreased expression:liver

PMID:9918913

RGD:5134372

NCBI chr15:53,724,814...53,745,710
Ensembl chr15:73,342,703...73,363,476

CSMD1

CUB and Sushi multiple domains 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:2,282,763...4,351,724
Ensembl chr 8:2,838,803...4,923,373

CSPG4

chondroitin sulfate proteoglycan 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498

CSRNP1

cysteine and serine rich nuclear protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:39,038,039...39,050,754
Ensembl chr 3:39,318,438...39,331,228

CTLA4

cytotoxic T-lymphocyte associated protein 4

susceptibility

ISO

protein:increased expression:CD4+ and CD8+ T cells:
DNA:SNPs: :rs231775,rs231725(human)

PMID:23432218 PMID:28648905

RGD:14398741 RGD:14398742

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

catenin beta 1

exacerbates
susceptibility
severity

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar Annotator: match by term: AXIN1-related condition | ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA
DNA:missense mutations:exon 3:multiple (human)
associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human)
associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human)
DNA:Mutations:exon:

RGD:14402039 RGD:14402040 RGD:14402052 RGD:150429592

PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

CTSB

cathepsin B

ISO

PMID:15641152

RGD:2315605

NCBI chr 8:7,333,498...7,359,264

CTSD

cathepsin D

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,789,326...1,800,524

CTSL

cathepsin L

ISO

PMID:15641152

RGD:2315605

NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303

CUX1

cut like homeobox 1

ISO

mRNA:increased expression:liver (human)

PMID:30561038

RGD:152985541

NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940

CXCL10

C-X-C motif chemokine ligand 10

treatment
disease_progression

ISO

PMID:27245433 PMID:28592115 PMID:28638480

RGD:27095889 RGD:27095898 RGD:27095899

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

CXCL11

C-X-C motif chemokine ligand 11

ISO

mRNA:increased expression:liver (mouse)

NCBI chr 4:48,169,954...48,172,455
Ensembl chr 4:54,007,818...54,010,336

CXCL12

C-X-C motif chemokine ligand 12

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

CXCL14

C-X-C motif chemokine ligand 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,960,143...130,967,365
Ensembl chr 5:137,100,019...137,108,336

CXCL8

C-X-C motif chemokine ligand 8

disease_progression
susceptibility

ISO

mRNA:increased expression:liver (human)
CTD Direct Evidence: marker/mechanism|therapeutic
protein:increased expression:liver (human)
DNA:SNPs, haplotype:multiple

PMID:12432545 PMID:24381110 PMID:26078356 PMID:30523154 PMID:35776891

RGD:11526468 RGD:26884364 RGD:26884366

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

CXCR4

C-X-C motif chemokine receptor 4

severity
treatment

ISO

protein:increased expression:liver (human)
human cells in mouse model

PMID:30034941 PMID:33574707

RGD:151665327 RGD:151665331

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

CYLD

CYLD lysine 63 deubiquitinase

ISO

CTD Direct Evidence: marker/mechanism

PMID:21109933

NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629

CYP17A1

cytochrome P450 family 17 subfamily A member 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:15341023

NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514

CYP1A1

cytochrome P450 family 1 subfamily A member 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:15341023

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

CYP1A2

cytochrome P450 family 1 subfamily A member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447

CYP26B1

cytochrome P450 family 26 subfamily B member 1

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr2A:72,172,658...72,191,410
Ensembl chr2A:73,670,830...73,686,433

CYP2B6

cytochrome P450 family 2 subfamily B member 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672

CYP2C19

cytochrome P450 family 2 subfamily C member 19

susceptibility

ISO

associated with hepatitis C; DNA:polymorphisms: :

PMID:11021356

RGD:124713413

NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065

CYP2C8

cytochrome P450 family 2 subfamily C member 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,646,387...91,679,998
Ensembl chr10:95,157,661...95,186,620

CYP2E1

cytochrome P450 family 2 subfamily E member 1

ISO

CTD Direct Evidence: marker/mechanism
DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human)
associated with alcohol dependence

PMID:15162526 PMID:20364586 PMID:29765251

RGD:14700882 RGD:14700899

Ensembl chr10:134,839,025...134,852,719

CYP39A1

cytochrome P450 family 39 subfamily A member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:46,132,584...46,235,578
Ensembl chr 6:47,404,969...47,507,600

CYP4A11

cytochrome P450 family 4 subfamily A member 11

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:46,228,434...46,240,736
Ensembl chr 1:47,583,564...47,594,870

DAB2IP

DAB2 interacting protein

severity

ISO

protein:decreased expression:liver (human)
mRNA:decreased expression:liver (human)

PMID:22168621 PMID:31176165

RGD:151665110 RGD:151665148

NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336

DBH

dopamine beta-hydroxylase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697

DCAF4L2

DDB1 and CUL4 associated factor 4 like 2

ISO

CTD Direct Evidence: marker/mechanism

DCN

decorin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413

DDR1

discoidin domain receptor tyrosine kinase 1

severity

ISO

mRNA:increased expression:liver (human)

PMID:33173221

RGD:151347691

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

discoidin domain receptor tyrosine kinase 2

disease_progression
treatment

ISO

PMID:26362312 PMID:33969575

RGD:11086753 RGD:150429748

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

DDX3X

DEAD-box helicase 3 X-linked

sexual_dimorphism
exacerbates

ISO

associated with hepatitis B; mRNA,protein:decreased expression:liver (human)

PMID:16301996 PMID:30297359

RGD:151356499 RGD:151356660

NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837

DEPDC1

DEP domain containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:67,711,907...67,734,986
Ensembl chr 1:69,668,899...69,692,143

DEPDC1B

DEP domain containing 1B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:53,300,423...53,406,947
Ensembl chr 5:54,951,596...55,045,820

DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

ISO

CTD Direct Evidence: marker/mechanism

PMID:21725309

NCBI chr22:12,774,147...12,929,261
Ensembl chr22:30,630,110...30,781,578

DHFR

dihydrofolate reductase

ISO

ClinVar Annotator: match by term: Hepatocellular cancer

NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003

DICER1

dicer 1, ribonuclease III

susceptibility

ISO

associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human)

PMID:23868705

RGD:149735346

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

DIPK2B

divergent protein kinase domain 2B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:37,587,189...37,639,862
Ensembl chr X:45,398,721...45,451,579

DIRAS3

DIRAS family GTPase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:67,283,556...67,288,561
Ensembl chr 1:69,240,117...69,240,806

DLGAP5

DLG associated protein 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:35,734,973...35,778,569
Ensembl chr14:54,009,127...54,052,437

DLK1

delta like non-canonical Notch ligand 1

ISO

mRNA:increased expression:liver (mouse)

NCBI chr14:81,348,380...81,356,607
Ensembl chr14:100,654,965...100,668,019

DMGDH

dimethylglycine dehydrogenase

disease_progression

ISO

associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)

NCBI chr 5:36,241,341...36,313,995
Ensembl chr 5:36,732,005...36,805,883

DNAJC6

DnaJ heat shock protein family (Hsp40) member C6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,501,805...64,662,999
Ensembl chr 1:66,399,968...66,550,879

DNASE1L3

deoxyribonuclease 1L3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:58,127,491...58,146,177
Ensembl chr 3:59,542,243...59,560,363

DNMT1

DNA methyltransferase 1

ISO

mRNA, protein:increased expression:liver

PMID:11844796

RGD:2289670

NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972

DNMT3A

DNA methyltransferase 3 alpha

ISO

mRNA, protein:increased expression:liver
protein:increased expression:liver:

PMID:11844796 PMID:15885882

RGD:2289670 RGD:9588598

NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605

DNMT3B

DNA methyltransferase 3 beta

ISO

mRNA:increased expression:liver:
mRNA, protein:increased expression:liver

PMID:11844796 PMID:15885882

RGD:2289670 RGD:9588598

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

DPYD

dihydropyrimidine dehydrogenase

ISO

CTD Direct Evidence: marker/mechanism

PMID:18019677

NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100

DSN1

DSN1 component of MIS12 kinetochore complex

disease_progression

ISO

PMID:30136646

RGD:27372884

NCBI chr20:33,083,222...33,105,563
Ensembl chr20:34,202,053...34,223,729

DTL

denticleless E3 ubiquitin protein ligase homolog

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:187,603,600...187,672,006
Ensembl chr 1:192,466,408...192,535,071

DYNLRB1

dynein light chain roadblock-type 1

ISO

PMID:11750132

RGD:13208527

NCBI chr20:30,845,447...30,869,776
Ensembl chr20:31,976,941...32,001,199

DYNLRB2

dynein light chain roadblock-type 2

ISO

PMID:11750132

RGD:13208527

NCBI chr16:61,138,632...61,148,817
Ensembl chr16:80,566,963...80,577,609

E2F1

E2F transcription factor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:12029619 PMID:15565109 PMID:28284560

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

E2F8

E2F transcription factor 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:19,250,045...19,267,629
Ensembl chr11:19,162,837...19,179,744

EAF2

ELL associated factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:20564326

NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416

ECM1

extracellular matrix protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:125,853,337...125,858,904
Ensembl chr 1:129,502,041...129,507,819

ECT2

epithelial cell transforming 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:169,756,885...169,828,087
Ensembl chr 3:177,938,164...178,008,381

EEF2

eukaryotic translation elongation factor 2

exacerbates

ISO

protein:increased expression, increased phosphorylation:liver (human)

PMID:28060762

RGD:153298915

NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172

EFEMP1

EGF containing fibulin extracellular matrix protein 1

disease_progression

ISO

protein:decreased expression:liver:

PMID:23936443

RGD:10401793

NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500

EFTUD2

elongation factor Tu GTP binding domain containing 2

ameliorates
severity

ISO

PMID:34282556

RGD:155791664

NCBI chr17:12,423,198...12,472,462
Ensembl chr17:12,595,715...12,644,147

EGF

epidermal growth factor

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
associated with hepatitis B;DNA:SNP:exon: (rs11569017) (human)
associated with liver cirrhosis;DNA:SNP:5'UTR: (rs4444903) (human)

PMID:9029167 PMID:18167406 PMID:23790025

RGD:14695013 RGD:14695014

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

EGFR

epidermal growth factor receptor

disease_progression

ISO

CTD Direct Evidence: marker/mechanism

PMID:9029167 PMID:11355950

RGD:126781769

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

EGR1

early growth response 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260

EGR2

early growth response 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:59,320,073...59,326,869
Ensembl chr10:61,648,364...61,652,846

EHD3

EH domain containing 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:31,245,908...31,280,485
Ensembl chr2A:31,317,432...31,353,312

EIF3H

eukaryotic translation initiation factor 3 subunit H

ISO

CTD Direct Evidence: marker/mechanism

PMID:14578863

NCBI chr 8:113,320,059...113,440,769
Ensembl chr 8:115,863,490...115,973,872

ENAH

ENAH actin regulator

disease_progression

ISO

mRNA:increased expression:liver (human)

PMID:35030977

RGD:155791678

NCBI chr 1:200,956,988...201,113,242
Ensembl chr 1:205,963,247...206,115,672

ENG

endoglin

ISO

protein:increased expression:liver (rat)

PMID:20368095

RGD:7257538

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

ENO1

enolase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215

EP300

E1A binding protein p300

ISO

protein:increased expression:liver (rat)

PMID:17083329

RGD:2312274

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

EPAS1

endothelial PAS domain protein 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:26735578

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

EPCAM

epithelial cell adhesion molecule

severity

ISO

protein:increased expression:liver

PMID:24616575

RGD:14695007

NCBI chr2A:47,490,748...47,508,418
Ensembl chr2A:48,413,520...48,432,038

EPHB1

EPH receptor B1

ISO

protein:increased phosphorylation:liver (mouse)

PMID:28100771

NCBI chr 3:131,841,459...132,309,082
Ensembl chr 3:139,313,387...139,776,802

EPHX1

epoxide hydrolase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:7892276

NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581

EPO

erythropoietin

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

EPS8L3

EPS8 signaling adaptor L3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:112,394,042...112,407,909

ERBB3

erb-b2 receptor tyrosine kinase 3

disease_progression

ISO

PMID:11355950

RGD:126781769

NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994

ERBB4

erb-b2 receptor tyrosine kinase 4

ISO

DNA:insertion/deletion:3'UTR:rs6147150 (human)

PMID:22294845

RGD:126781763

NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

ISO

mRNA, protein:increased expression:liver (human)

PMID:15922480

RGD:155598683

NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility
disease_progression

ISO

DNA:SNPs:exon 23: p.K751Q (rs13181) (human)
DNA:SNP:cd: 312A>G (human)
DNA:SNPs:exon 23: p.K751Q (human)
DNA:SNPs:exon 23: p.K751Q (human)

PMID:19919686 PMID:25531380 PMID:28598207 PMID:28927037

RGD:150530503 RGD:25671459 RGD:25671460 RGD:25671461

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

EREG

epiregulin

ISO

CTD Direct Evidence: marker/mechanism

PMID:35776891

NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568

ERN1

endoplasmic reticulum to nucleus signaling 1

ISO

DNA:hypomethylation: CpG islands:

PMID:20165882

RGD:14694974

NCBI chr17:58,132,889...58,224,012
Ensembl chr17:63,226,949...63,317,825

ERP29

endoplasmic reticulum protein 29

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:109,610,692...109,620,390
Ensembl chr12:113,004,125...113,013,674

ESM1

endothelial cell specific molecule 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:59,043,366...59,051,332
Ensembl chr 5:60,665,279...60,673,129

ESR1

estrogen receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

ETFA

electron transfer flavoprotein subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:55,128,686...55,227,369
Ensembl chr15:74,720,198...74,818,494

EXO1

exonuclease 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

susceptibility

ISO

mRNA:increased expression:liver (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple

RGD:10755339 RGD:11537550 RGD:126779595 RGD:126779608

PMID:24040354 PMID:24211739 PMID:25226601 PMID:26517514 PMID:28284560 More...

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

coagulation factor II, thrombin

severity

ISO

CTD Direct Evidence: marker/mechanism
associated with liver cirrhosis;protein:altered expression, altered processing:liver (human)

PMID:2821104 PMID:7620113

RGD:14975114

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

FABP5

fatty acid binding protein 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:77,803,369...77,807,630
Ensembl chr 8:79,426,684...79,430,879

FAM111B

FAM111 trypsin like peptidase B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:54,324,217...54,344,439
Ensembl chr11:57,779,138...57,795,819

FAM180A

family with sequence similarity 180 member A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,701,469...127,721,048
Ensembl chr 7:140,202,736...140,217,950

FAM83D

family with sequence similarity 83 member D

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:35,251,338...35,278,057
Ensembl chr20:36,357,610...36,384,355

FANCD2

FA complementation group D2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190

FANCI

FA complementation group I

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271

FAS

Fas cell surface death receptor

treatment

ISO

protein:increased expression:liver:

PMID:11274632 PMID:29634416 PMID:30737368

RGD:13792608 RGD:14700677 RGD:14700700

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

FASLG

Fas ligand

ISO

protein:increased expression:liver:

PMID:11274632

RGD:14700677

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

FASN

fatty acid synthase

ISO

CTD Direct Evidence: marker/mechanism

PMID:14563831 PMID:15543204 PMID:21147110

NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647

FAT1

FAT atypical cadherin 1

disease_progression

ISO

mRNA,protein:increased expression:liver (human)

PMID:24590895

RGD:151347630

NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357

FATE1

fetal and adult testis expressed 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:15580283

NCBI chr X:141,274,799...141,303,329
Ensembl chr X:151,251,944...151,260,686

FBP1

fructose-bisphosphatase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:22039417

NCBI chr 9:65,695,082...65,731,628
Ensembl chr 9:93,825,150...93,860,968

FBXL18

F-box and leucine rich repeat protein 18

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:5,734,703...5,770,942
Ensembl chr 7:5,751,134...5,789,134

FBXO11

F-box protein 11

exacerbates
ameliorates

ISO

mRNA:increased expression:liver (human)
protein:increased expression:liver (human)

PMID:29518611 PMID:29603830 PMID:32657545

RGD:152025259 RGD:152025263 RGD:152025266

NCBI chr2A:47,926,629...48,026,245
Ensembl chr2A:48,830,780...48,886,300

FCN3

ficolin 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861

FDFT1

farnesyl-diphosphate farnesyltransferase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:7,363,250...7,399,863

FES

FES proto-oncogene, tyrosine kinase

exacerbates

ISO

DNA:hypermethylation:promoter (human)

PMID:31038805

RGD:153323297

NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965

FGF19

fibroblast growth factor 19

ISO

CTD Direct Evidence: marker/mechanism

PMID:25822088

NCBI chr11:64,794,157...64,800,512
Ensembl chr11:68,085,306...68,090,028

FGF3

fibroblast growth factor 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:25822088

NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042

FGF4

fibroblast growth factor 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:25822088

NCBI chr11:64,866,649...64,871,031

FGFR1

fibroblast growth factor receptor 1

treatment

ISO

CTD Direct Evidence: marker/mechanism

PMID:16452204 PMID:20155451 PMID:21573021 PMID:36029209

RGD:25330358 RGD:25440476 RGD:25440478

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

FGFR2

fibroblast growth factor receptor 2

severity

ISO

associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human)

PMID:30952770

RGD:38501096

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

FGFR4

fibroblast growth factor receptor 4

treatment

ISO

PMID:32677805

RGD:150520166

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

fumarate hydratase

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:10896297 PMID:15221078 PMID:16876016 PMID:17182618 PMID:18313410 More...

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

FHIT

fragile histidine triad diadenosine triphosphatase

ISO

PMID:12112319

RGD:632723

NCBI chr 3:59,670,777...61,177,974

FLT3

fms related receptor tyrosine kinase 3

ameliorates

ISO

human cells in mouse model

PMID:27511526

RGD:149735514

NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940

FLVCR1

FLVCR choline and heme transporter 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554

FOS

Fos proto-oncogene, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

PMID:9029167 PMID:28284560

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

FOSB

FosB proto-oncogene, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:42,416,781...42,424,003
Ensembl chr19:51,013,350...51,020,570

FOSL2

FOS like 2, AP-1 transcription factor subunit

ISO

mRNA:increased expression:liver (human)

PMID:30086463 PMID:32048611

RGD:153344517 RGD:153344521

NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397

FOXA1

forkhead box A1

disease_progression
sexual_dimorphism
susceptibility

ISO

protein:decreased expression:liver
DNA:VNTR, SNPs, haplotypes:multiple:

PMID:25965836 PMID:29208003 PMID:31400761

RGD:11054501 RGD:151665752 RGD:151665820

NCBI chr14:18,347,284...18,352,705

FOXM1

forkhead box M1

ISO

CTD Direct Evidence: marker/mechanism
OMIM:114550

PMID:15082532 PMID:17173139 PMID:28284560

NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503

FOXO1

forkhead box O1

ISO

mRNA:decreased expression:liver

PMID:28972178

RGD:14401599

NCBI chr13:21,763,729...21,874,279

FOXP1

forkhead box P1

treatment

ISO

PMID:25156538

RGD:9587823

NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173

FOXP3

forkhead box P3

ISO

protein:increased expression:liver

PMID:21086571

RGD:38548919

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

FST

follistatin

ISO

CTD Direct Evidence: marker/mechanism

PMID:12203361 PMID:19363144

NCBI chr 5:60,544,495...60,550,516

FTH1

ferritin heavy chain 1

ISO

mRNA:increased expression:liver (rat)

PMID:9054589

RGD:632698

NCBI chr11:57,329,163...57,332,248

FUBP1

far upstream element binding protein 1

ameliorates
exacerbates

ISO

associated with Chronic Hepatitis C;mRNA:increased expression:liver (human)
human cell line in a mouse model

PMID:19637194 PMID:25995247 PMID:31587040

RGD:151361188 RGD:151361194 RGD:151361196

NCBI chr 1:77,162,675...77,198,486

G6PC1

glucose-6-phosphatase catalytic subunit 1

treatment

ISO

associated with Glycogen Storage Disease IA, human gene in a mouse model

PMID:28096054

RGD:14695537

NCBI chr17:14,407,355...14,419,660
Ensembl chr17:14,635,667...14,646,674

G6PD

glucose-6-phosphate dehydrogenase

disease_progression

ISO

mRNA:increased expression:liver (human)

PMID:25473368 PMID:35693827

RGD:10449118 RGD:153344586

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

GABRD

gamma-aminobutyric acid type A receptor subunit delta

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

GAPDH

glyceraldehyde-3-phosphate dehydrogenase

ISO

CTD Direct Evidence: marker/mechanism

PMID:16767786 PMID:21472284

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

GC vitamin D binding protein

susceptibility

ISO

protein:increased expression:liver
associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human)

PMID:21683810 PMID:25541958

RGD:14402025 RGD:5509919

NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073

GDF15

growth differentiation factor 15

ISO

CTD Direct Evidence: marker/mechanism

PMID:20512989

NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470

GDF2

growth differentiation factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:23936038 PMID:28284560

NCBI chr10:46,520,808...46,526,414

GGT1

gamma-glutamyltransferase 1

disease_progression

ISO

HBV associated
RNA,protein:increased expression, activity:liver:

PMID:10572675 PMID:11940314 PMID:27793641

RGD:14701040 RGD:14701041 RGD:14701048

NCBI chr22:5,424,334...5,469,705

GHR

growth hormone receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

GINS1

GINS complex subunit 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:25,352,711...25,393,926
Ensembl chr20:25,757,555...25,797,829

GJB1

gap junction protein beta 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:17978847

NCBI chr X:60,490,579...60,492,606
Ensembl chr X:70,547,110...70,547,961

GJB2

gap junction protein beta 2

ISO

DNA, mRNA:promoter hypermethylation, decreased expression:liver

PMID:17295234

RGD:2289638

NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954

GLI1

GLI family zinc finger 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:26189965

NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473

GLUL

glutamate-ammonia ligase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411

GMNN

geminin DNA replication inhibitor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:24,612,864...24,624,010
Ensembl chr 6:24,944,377...24,955,575

GMPS

guanine monophosphate synthase

ISO

protein:increased activity:hepatoma (rat)

PMID:6861338

RGD:5135537

NCBI chr 3:152,925,905...152,999,180
Ensembl chr 3:160,977,222...161,045,214

GNAO1

G protein subunit alpha o1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619

GNAZ

G protein subunit alpha z

ISO

CTD Direct Evidence: marker/mechanism

Ensembl chr22:21,719,169...21,746,851

GNMT

glycine N-methyltransferase

ISO

CTD Direct Evidence: marker/mechanism
OMIM:114550

PMID:19146867 PMID:31086990

NCBI chr 6:42,550,631...42,554,385
Ensembl chr 6:43,846,560...43,849,679

GOLM1

golgi membrane protein 1

severity

ISO

mRNA, protein:increased expression:liver
protein:increased expression:serum

PMID:21140449 PMID:21443671

RGD:401827118 RGD:401827119

NCBI chr 9:38,823,820...38,910,984
Ensembl chr 9:83,005,832...83,080,202

GPC1

glypican 1

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr2B:127,684,839...127,717,294
Ensembl chr2B:246,511,082...246,523,569

GPC3

glypican 3

severity
disease_progression
exacerbates
treatment

ISO

protein:increased expression:liver
mRNA:increased expression:Peripheral Blood (human)
protein:increased expression:liver (human)
protein:increased expression:blood serum (human)
mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

RGD:14695019 RGD:14695020 RGD:243065125 RGD:243065131 RGD:243065134 RGD:243065135 RGD:243065139

PMID:16698587 PMID:19496787 PMID:21438004 PMID:22883669 PMID:23558072 More...

NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441

GPM6A

glycoprotein M6A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:167,826,285...168,194,244
Ensembl chr 4:180,059,938...180,428,459

GPR158

G protein-coupled receptor 158

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:25,352,131...25,777,652
Ensembl chr10:25,722,127...26,140,997

GPR182

G protein-coupled receptor 182

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,929,288...31,933,243
Ensembl chr12:32,184,592...32,185,806

GPX1

glutathione peroxidase 1

severity
no_association
susceptibility

ISO

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)

PMID:16510607 PMID:19929244 PMID:25894370 PMID:26990426

RGD:11533013 RGD:151708729 RGD:152995483 RGD:152998906

NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826

GPX3

glutathione peroxidase 3

severity
disease_progression

ISO

mRNA,protein:decreased expression:liver, blood plasma (human)
DNA:hypermethylation

PMID:25333265 PMID:25445749 PMID:27570561

RGD:151665355 RGD:151665509 RGD:401827855

NCBI chr 5:146,447,939...146,456,476

GRB7

growth factor receptor bound protein 7

exacerbates

ISO

protein:increased expression:liver (human)

PMID:17634422

RGD:151347655

NCBI chr17:17,541,771...17,551,049
Ensembl chr17:17,758,992...17,768,290

GSTM1

glutathione S-transferase mu 1

no_association
susceptibility

ISO

CTD Direct Evidence: marker/mechanism
DNA:deletion:cds (human)

PMID:7892276 PMID:11859714 PMID:20672314 PMID:20683151

RGD:14700951 RGD:14700979 RGD:7488953

Ensembl chr 1:127,979,238...128,010,411

GSTP1

glutathione S-transferase pi 1

ISO

DNA:increased methylation:promoter
CTD Direct Evidence: marker/mechanism

PMID:9029167 PMID:22536438

RGD:14401712

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

GTSE1

G2 and S-phase expressed 1

ISO

CTD Direct Evidence: marker/mechanism

Ensembl chr22:45,362,777...45,394,920

GYS2

glycogen synthase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:64,693,285...64,761,855
Ensembl chr12:67,297,131...67,365,773

HAMP

hepcidin antimicrobial peptide

ISO

DNA:hypermethylation,hypomethylation:promoter
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:liver (human)

PMID:28284560 PMID:29235098

RGD:15042879

NCBI chr19:32,228,701...32,231,494
Ensembl chr19:40,964,445...40,968,861

HAO2

hydroxyacid oxidase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,160,326...83,185,688
Ensembl chr 1:118,157,037...118,182,957

HAVCR1

hepatitis A virus cellular receptor 1

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481

HAVCR2

hepatitis A virus cellular receptor 2

disease_progression

ISO

associated with hepatitis B;DNA:SNP: : ��1516 G>T (human)

PMID:27034168

RGD:40818257

NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007

HDAC2

histone deacetylase 2

disease_progression

ISO

mRNA:increased expression:liver:

PMID:24448241

RGD:9590206

NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004

HDAC4

histone deacetylase 4

ISO

mRNA:increased expression:liver:

PMID:21837748

RGD:9681451

NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054

HERC5

HECT and RLD domain containing E3 ubiquitin protein ligase 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:28919514

NCBI chr 4:80,747,400...80,795,722
Ensembl chr 4:91,470,572...91,518,177

HFE

homeostatic iron regulator

disease_progression

ISO

associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human)

PMID:20019189 PMID:29642405

RGD:14746967 RGD:2317357

NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591

HGF

hepatocyte growth factor

ISO

CTD Direct Evidence: marker/mechanism

PMID:9932610 PMID:11896611

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

HGFAC

HGF activator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436

HHIP

hedgehog interacting protein

ISO

CTD Direct Evidence: marker/mechanism

PMID:18559595

NCBI chr 4:136,989,818...137,085,407
Ensembl chr 4:148,651,597...148,744,619

HIF1A

hypoxia inducible factor 1 subunit alpha

treatment
disease_progression

ISO

protein:increased expression:liver (human)

PMID:19335982 PMID:26078356 PMID:31321740

RGD:11526468 RGD:155882550 RGD:9068886

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

HILPDA

hypoxia inducible lipid droplet associated

disease_progression

ISO

mRNA:increased expression:liver (human)
human cells in mouse model
mRNA, protein:increased expression:liver (human)

PMID:30205391 PMID:31142329 PMID:35693827

RGD:153344574 RGD:153344577 RGD:153344586

NCBI chr 7:120,446,572...120,449,174
Ensembl chr 7:133,100,523...133,100,714

HJURP

Holliday junction recognition protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:121,076,314...121,096,783
Ensembl chr2B:239,950,984...239,967,955

HMGB2

high mobility group box 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:20851854

NCBI chr 4:165,559,848...165,562,625
Ensembl chr 4:177,797,457...177,800,952

HMGCR

3-hydroxy-3-methylglutaryl-CoA reductase

ISO

CTD Direct Evidence: marker/mechanism

PMID:9207284 PMID:21147110

NCBI chr 5:39,936,630...39,961,519
Ensembl chr 5:40,548,919...40,573,785

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2

disease_progression

ISO

PMID:28867541

RGD:14975299

NCBI chr 1:82,778,489...82,798,987
Ensembl chr 1:117,775,770...117,796,679

HMMR

hyaluronan mediated motility receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:158,837,511...158,868,800
Ensembl chr 5:165,614,127...165,645,478

HNF1A

HNF1 homeobox A

treatment

ISO

human cell line in mouse model

PMID:29466992

RGD:14700664

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

HNF4A

hepatocyte nuclear factor 4 alpha

ISO

protein:decreased expression:liver:

PMID:20876809

RGD:12904747

NCBI chr20:40,684,450...40,763,824
Ensembl chr20:41,779,034...41,856,536

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

ISO

protein:increased expression:liver (human)

PMID:23633480

RGD:9685423

NCBI chr12:34,456,900...34,463,317
Ensembl chr12:35,184,943...35,188,443

HNRNPA2B1

heterogeneous nuclear ribonucleoprotein A2/B1

ISO

protein:increased expression:liver (human)
mRNA:increased expression:liver (rat)

PMID:20604928 PMID:23633480

RGD:9685422 RGD:9685423

NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985

HNRNPAB

heterogeneous nuclear ribonucleoprotein A/B

severity

ISO

human gene in a mouse model

PMID:24638979

RGD:10059322

NCBI chr 5:173,364,301...173,370,974

HNRNPD

heterogeneous nuclear ribonucleoprotein D

ISO

protein:increased expression:liver (rat)
protein:increased expression:liver (human)

PMID:20102719 PMID:22318685

RGD:10042969 RGD:10042977

NCBI chr 4:41,825,518...41,846,166
Ensembl chr 4:47,676,599...47,696,894

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

ISO

protein:increased expression:liver (human)

PMID:23633480

RGD:9685423

NCBI chr 5:174,764,771...174,775,201
Ensembl chr 5:182,044,549...182,053,635

HNRNPL

heterogeneous nuclear ribonucleoprotein L

ISO

associated with Hepatitis B

PMID:24125732

RGD:9999429

NCBI chr19:35,943,720...35,959,795

HOXA10

homeobox A10

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,815,112...27,818,829
Ensembl chr 7:27,415,833...27,423,580

HOXA13

homeobox A13

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:27,838,656...27,844,562

HOXD9

homeobox D9

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:63,401,813...63,404,731
Ensembl chr2B:181,112,002...181,113,415

HPRT1

hypoxanthine phosphoribosyltransferase 1

ISO

protein:increased activity:hepatoma (rat)

PMID:6327016

RGD:5135035

NCBI chr X:123,609,248...123,650,102
Ensembl chr X:133,916,681...133,948,197

HRAS

HRas proto-oncogene, GTPase

treatment

ISO

human cells in a mouse model
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:10791191 PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 More...

RGD:14688055

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:83,130,065...83,156,996
Ensembl chr 1:118,128,493...118,153,124

HSPA5

heat shock protein family A (Hsp70) member 5

ISO

CTD Direct Evidence: marker/mechanism

PMID:21472284 PMID:29698666

NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458

HSPA9

heat shock protein family A (Hsp70) member 9

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551

HSPB1

heat shock protein family B (small) member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

HTATIP2

HIV-1 Tat interactive protein 2

ISO

CTD Direct Evidence: therapeutic

PMID:16799960

NCBI chr11:20,388,475...20,408,633
Ensembl chr11:20,300,528...20,320,271

HTRA1

HtrA serine peptidase 1

disease_progression
exacerbates

ISO

mRNA:decreased expression:liver (human)
protein:decreased expression:liver (human)

PMID:20943460 PMID:26403966

RGD:152985524 RGD:152985529

NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733

ICAM1

intercellular adhesion molecule 1

severity

ISO

protein:increased expression:serum

PMID:26109813

RGD:11056752

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

isocitrate dehydrogenase (NADP(+)) 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

ISO

PMID:24716838

RGD:14985249

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

IER2

immediate early response 2

ISO

human cells in mouse model

PMID:32009420

RGD:153323326

NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910

IFNG

interferon gamma

ISO

mRNA:increased expression:liver (mouse)

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

IGBP1

immunoglobulin binding protein 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:21339737

NCBI chr X:59,401,426...59,434,363
Ensembl chr X:69,460,734...69,493,616

IGF1

insulin like growth factor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

IGF1R

insulin like growth factor 1 receptor

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
DNA:SNPs, haplotype: :

PMID:17441810 PMID:23958494 PMID:24758241

RGD:14985227

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

IGF2

insulin like growth factor 2

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human)

PMID:12532445 PMID:16092956 PMID:16750516 PMID:17554210

RGD:14401723 RGD:2311523

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

IGF2BP1

insulin like growth factor 2 mRNA binding protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,479,806...8,538,336
Ensembl chr17:8,468,240...8,519,552

IGF2BP3

insulin like growth factor 2 mRNA binding protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473

IGF2R

insulin like growth factor 2 receptor

disease_progression
treatment
no_association

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma
DNA:loss of heterozygosity:liver
DNA:loss of heterozygosity,mutations:liver:

PMID:9722161 PMID:10347113 PMID:18322954 PMID:25741868 PMID:30720132

RGD:14985219 RGD:14985220 RGD:14985221

NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762

IGFALS

insulin like growth factor binding protein acid labile subunit

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

treatment

ISO

protein:decreased expression:liver (human)

RGD:11079569 RGD:153297807 RGD:153297813 RGD:153305943 RGD:153305945 RGD:153305947

PMID:17292824 PMID:22176836 PMID:22922425 PMID:24971483 PMID:25173965 More...

NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092

IKZF1

IKAROS family zinc finger 1

ameliorates

ISO

protein:increased expression:liver (human)

PMID:25301737

RGD:150540326

NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245

interleukin 10

treatment

ISO

PMID:23822114 PMID:26890368

RGD:14975171 RGD:7365006

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

IL12A

interleukin 12A

susceptibility

ISO

associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human)
associated with hepatitis B; DNA:SNP, haplotype:3′UTR :rs568408(human)

PMID:20521253 PMID:26631030 PMID:27819525

RGD:25440490 RGD:25440491 RGD:25440501

NCBI chr 3:157,011,675...157,019,897
Ensembl chr 3:165,061,505...165,068,666

IL15RA

interleukin 15 receptor subunit alpha

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr10:5,993,583...6,019,967

IL18

interleukin 18

disease_progression
susceptibility
severity

ISO

DNA:SNP:promoter:-137G>C(rs187238)(human)
associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human)
associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human)

PMID:26893476 PMID:27429592 PMID:27470888 PMID:29341496

RGD:11538094 RGD:14695526 RGD:14695540 RGD:14696663

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

IL18R1

interleukin 18 receptor 1

ISO

mRNA:decreased expression:liver

PMID:26893476

RGD:11538094

NCBI chr2A:99,419,686...99,462,650

IL1B

interleukin 1 beta

susceptibility

ISO

DNA:polymorphism:promoter:-31T>C (human)

PMID:21653279

RGD:7401222

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

IL1RAP

interleukin 1 receptor accessory protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:187,535,880...187,680,628
Ensembl chr 3:196,089,208...196,231,379

IL1RN

interleukin 1 receptor antagonist

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

IL2

interleukin 2

treatment

ISO

PMID:9449371 PMID:10933975

RGD:14747035 RGD:8693323

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

IL21

interleukin 21

ISO

associated with hepatitis B;DNA:SNPS, haplotype:(rs13143866, rs2221903, rs907715) (human)

PMID:25892873

RGD:127285359

NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915

IL32

interleukin 32

ISO

associated with hepatitis C, liver cirrhosis:mRNA:increased expression:liver (human)

PMID:17696935

RGD:150340754

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

IL6

interleukin 6

treatment
disease_progression

ISO

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:liver, blood serum (mouse)
DNA:SNP: :rs2069852 (human)

RGD:11344640 RGD:127285672 RGD:14975289

PMID:17615358 PMID:20818158 PMID:26297436 PMID:26569409 PMID:27022031 More...

NCBI chr 7:23,415,922...23,420,767

IL6ST

interleukin 6 cytokine family signal transducer

ISO

PMID:15780071

RGD:1626706

NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817

ING3

inhibitor of growth family member 3

treatment

ISO

PMID:25156538

RGD:9587823

NCBI chr 7:112,955,848...112,984,473
Ensembl chr 7:125,643,332...125,671,566

INMT

indolethylamine N-methyltransferase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661

INPP4B

inositol polyphosphate-4-phosphatase type II B

ISO

CTD Direct Evidence: marker/mechanism

PMID:29415082

NCBI chr 4:134,405,934...135,213,851
Ensembl chr 4:145,706,307...146,141,029

INS

insulin

ISO

associated with Chronic Hepatitis C;mRNA:decreased expression:liver (human)

PMID:33132693

RGD:150340613

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

INSR

insulin receptor

ISO

human cells in a mouse model
mRNA, protein:increased expression:liver (human, rat)

PMID:23633480 PMID:29610518

RGD:14700930 RGD:9685423

NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889

IQGAP1

IQ motif containing GTPase activating protein 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:20977743

NCBI chr15:69,076,025...69,190,082
Ensembl chr15:88,276,851...88,388,594

IQGAP2

IQ motif containing GTPase activating protein 2

ISO

CTD Direct Evidence: marker/mechanism
OMIM:114550

PMID:20977743

NCBI chr 5:38,593,574...38,900,327
Ensembl chr 5:39,138,359...39,516,596

IQGAP3

IQ motif containing GTPase activating protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:131,869,002...131,916,554
Ensembl chr 1:135,695,602...135,740,564

IRF2

interferon regulatory factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:22561517

NCBI chr 4:176,554,979...176,641,827
Ensembl chr 4:188,779,134...188,865,764

IRS1

insulin receptor substrate 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:1311924 PMID:23958494

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

IRS2

insulin receptor substrate 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:16127164

NCBI chr13:90,886,095...90,917,724

ISG15

ISG15 ubiquitin like modifier

ISO

CTD Direct Evidence: marker/mechanism

PMID:28919514

Ensembl chr 1:927,418...928,491

ITIH3

inter-alpha-trypsin inhibitor heavy chain 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,733,966...52,750,198
Ensembl chr 3:53,961,451...53,976,065

ITIH4

inter-alpha-trypsin inhibitor heavy chain 4

disease_progression

ISO

associated with hepatitis B;protein:decreased expression:serum

PMID:24836184

RGD:40903002

NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038

JAG1

jagged canonical Notch ligand 1

ISO

protein:increased expression:liver

PMID:30660174

RGD:14694832

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

JAK1

Janus kinase 1

ISO

PMID:23788652

RGD:150524353

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991

JAK2

Janus kinase 2

severity
treatment
ameliorates
exacerbates

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:125097525 RGD:127285621 RGD:127285655 RGD:127285672 RGD:127285675 RGD:18182928

PMID:22392353 PMID:22821478 PMID:25420511 PMID:28100771 PMID:29486150 More...

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

JDP2

Jun dimerization protein 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:20214788

NCBI chr14:55,982,051...56,024,816
Ensembl chr14:74,828,944...74,870,087

JUN

Jun proto-oncogene, AP-1 transcription factor subunit

ISO

CTD Direct Evidence: marker/mechanism

PMID:20214788

NCBI chr 1:58,042,794...58,045,536

JUND

JunD proto-oncogene, AP-1 transcription factor subunit

ISO

associated with HBV;protein:increased expression:liver (human)

PMID:15927205

RGD:153297768

NCBI chr19:17,755,331...17,757,164

KAT2B

lysine acetyltransferase 2B

severity

ISO

protein:decreased expression:liver (human)

PMID:23643089

RGD:9590314

NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770

KBTBD11

kelch repeat and BTB domain containing 11

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:5,334,954...5,368,004

KCNH1

potassium voltage-gated channel subfamily H member 1

ISO

protein:increased expression:liver (human)

PMID:17022810

RGD:9693723

NCBI chr 1:186,233,881...186,696,509
Ensembl chr 1:191,107,256...191,562,766

KCNN2

potassium calcium-activated channel subfamily N member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079

KDM1A

lysine demethylase 1A

severity

ISO

mRNA, protein:increased expression:liver (human)

PMID:23236241

RGD:9681002

NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692

KDM3A

lysine demethylase 3A

ISO

mRNA:increased expression:liver (human)

PMID:21607773

RGD:9590222

NCBI chr2A:86,497,531...86,548,772

KDM5C

lysine demethylase 5C

exacerbates

ISO

protein:increased expression:liver (human)

PMID:26503415

RGD:11530160

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

KDM6A

lysine demethylase 6A

ameliorates

ISO

human cells in a mouse model

PMID:32765772

RGD:150429729

NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029

KDM8

lysine demethylase 8

ISO

CTD Direct Evidence: marker/mechanism

Ensembl chr16:27,577,230...27,595,164

KDR

kinase insert domain receptor

treatment
disease_progression

ISO

DNA:SNPs: :rs1870377, rs2071559, rs2305948 (human)
protein:increased expression:liver
associated with alcoholic liver cirrhosis;DNA:SNP: :1416A>T (human)
protein:decreased expression:liver

PMID:19177438 PMID:23660204 PMID:24445728 PMID:25182707 PMID:25333267

RGD:126848806 RGD:126848810 RGD:126848812 RGD:126848813 RGD:126848814

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

KIF11

kinesin family member 11

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440

KIF14

kinesin family member 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323

KIF15

kinesin family member 15

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700

KIF18A

kinesin family member 18A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:27,989,506...28,076,078
Ensembl chr11:27,888,435...27,976,429

KIF18B

kinesin family member 18B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:12,374,072...12,398,006
Ensembl chr17:12,558,976...12,569,899

KIF1B

kinesin family member 1B

severity
susceptibility

ISO

mRNA, protein:decreased expression:liver (human)
DNA:snp:intron:c.2537+518A>G (rs17401966) (human)

PMID:26217094 PMID:27122668

RGD:11052488 RGD:12738461

NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577

KIF20A

kinesin family member 20A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,557,456...133,566,089
Ensembl chr 5:139,690,517...139,699,446

KIF23

kinesin family member 23

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:48,364,891...48,399,038
Ensembl chr15:67,135,401...67,169,531

KIF2C

kinesin family member 2C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:44,042,565...44,070,922
Ensembl chr 1:45,408,734...45,436,844

KIF4A

kinesin family member 4A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:59,558,491...59,688,711
Ensembl chr X:69,618,244...69,746,235

KIFC1

kinesin family member C1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,971,033...32,989,129
Ensembl chr 6:34,078,842...34,100,373

KLF4

KLF transcription factor 4

disease_progression
treatment

ISO

PMID:22677193

RGD:14402023

NCBI chr 9:78,634,545...78,639,447
Ensembl chr 9:106,820,954...106,825,797

KLRF1

killer cell lectin like receptor F1

disease_progression

ISO

mRNA:decreased expression:liver (human)

NCBI chr12:9,875,505...9,893,012
Ensembl chr12:10,124,779...10,142,237

KMT2A

lysine methyltransferase 2A

ISO

CTD Direct Evidence: marker/mechanism

PMID:22634756

NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100

KMT2B

lysine methyltransferase 2B

ISO

CTD Direct Evidence: marker/mechanism
DNA:insertions, translocations:intron:IVS3, multiple (human)

PMID:18320596 PMID:22634754

RGD:9588597

NCBI chr19:32,647,815...32,668,656
Ensembl chr19:41,382,458...41,402,695

KMT2C

lysine methyltransferase 2C

ISO

CTD Direct Evidence: marker/mechanism

PMID:22634756

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

KRAS proto-oncogene, GTPase

induced

ISO

aflatoxin B1 induced:DNA:transversion,transition mutations:cds:
CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:liver

PMID:8446626 PMID:11286481 PMID:11563603 PMID:29275358

RGD:11568697 RGD:14398750

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

KRT18

keratin 18

ISO

OMIM:114550

NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196

LCAT

lecithin-cholesterol acyltransferase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:48,278,137...48,285,305
Ensembl chr16:67,668,646...67,673,127

LECT2

leukocyte cell derived chemotaxin 2

ameliorates

ISO

human cells in mouse model
protein:increased expression:blood serum (mouse)
protein:increased expression:blood serum (human)

PMID:21394108 PMID:24892551

RGD:153323333 RGD:153323335

NCBI chr 5:131,338,344...131,347,323
Ensembl chr 5:137,478,111...137,486,448

LEP

leptin

susceptibility
severity

ISO

DNA:SNP:enhancer:-2548G>A (rs7799039) (human)
protein:increased expression:liver (human)

PMID:18573568 PMID:28452232

RGD:15039399 RGD:25330348

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

LEPR

leptin receptor

susceptibility

ISO

associated with Hepatitis B, Chronic;DNA:missense mutations:cds:p.Q223R, p.K109R (human)

PMID:23090836

RGD:21079466

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

ISO

CTD Direct Evidence: therapeutic

PMID:23392203

NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901

LIFR

LIF receptor subunit alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267

LILRB5

leukocyte immunoglobulin like receptor B5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,189,520...51,211,511

LOC100967331

ubiquitin carboxyl-terminal hydrolase 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:35841383

NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903

LOC100971374

thioredoxin-interacting protein

ISO

OMIM:114550

NCBI chr 1:90,007,878...90,012,055

LOC100972354

interferon alpha-2

susceptibility

ISO

associated with hepatitis B; DNA:SNP:enhancer: (rs649053) (human)

PMID:29080269

RGD:21406429

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

LOC100972994

HLA class II histocompatibility antigen, DQ beta 1 chain

treatment

ISO

associated with hepatitis C;DNA:SNPs,haplotypes
associated with hepatitis B

PMID:27288300 PMID:28921602

RGD:14928325 RGD:14974233

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

LOC100974185

solute carrier family 22 member 10

ISO

CTD Direct Evidence: marker/mechanism

PMID:28284560 PMID:30705370

NCBI chr11:58,573,286...58,668,946
Ensembl chr11:61,997,429...62,018,738

LOC100976419

interferon lambda-1

ameliorates

ISO

human protein and cells in mouse model

PMID:24769671

RGD:126848750

NCBI chr19:36,394,462...36,397,363
Ensembl chr19:44,942,186...44,944,519

LOC100976982

solute carrier organic anion transporter family member 1B3

exacerbates
disease_progression

ISO

mRNA,protein:decreased expression:liver (human)

PMID:21626360 PMID:32534581

RGD:152995417 RGD:152995423

NCBI chr12:65,386,042...65,492,240

LOC100978434

C-type lectin domain family 4 member M

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:7,062,961...7,069,381

LOC100979269

alpha-2-macroglobulin

ISO

mRNA,protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism

PMID:15509519

RGD:1358261

NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979

LOC100980965

zinc-alpha-2-glycoprotein

disease_progression

ISO

mRNA:decreased expression:liver
associated with hepatitis B;mRNA:decreased expression:liver

PMID:22625427 PMID:26902423 PMID:27993894

RGD:153350130 RGD:153350132 RGD:153350133

NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219

LOC100982199

cytochrome c oxidase subunit 7B2, mitochondrial

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:75,248,761...75,419,165
Ensembl chr 4:86,148,780...86,149,025

LOC100984344

calpain-3

ISO

mRNA:decreased expression:skeletal muscle

PMID:10806331

RGD:1600777

NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
Ensembl chr15:39,476,302...39,528,820

LOC100986475

metallothionein-2

ISO

CTD Direct Evidence: marker/mechanism

PMID:17363595 PMID:28284560

NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093

LOC100986809

metallothionein-1E

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,910,968...36,912,599
Ensembl chr16:56,043,244...56,044,885

LOC100988550

signal transducer and activator of transcription 5A

ameliorates

ISO

PMID:28100771

NCBI chr17:15,005,025...15,029,110
Ensembl chr17:15,228,465...15,251,783

LOC100989105

signal transducer and activator of transcription 5B

ameliorates
exacerbates

ISO

mRNA:increased expression:liver (human)
protein:increased expression:liver (human)

PMID:17047057 PMID:31485610

RGD:153298929 RGD:153298932

NCBI chr17:15,040,303...15,116,682
Ensembl chr17:15,306,418...15,336,463

LOC100994627

ficolin-2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992

LOC100995577

HLA class II histocompatibility antigen, DP alpha 1 chain

ISO

DNA:hypomethylation: CpG islands:

PMID:20165882

RGD:14694974

NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417

LOXL3

lysyl oxidase like 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:35841383

NCBI chr2A:74,598,870...74,622,502
Ensembl chr2A:76,105,957...76,128,495

LPA

lipoprotein(a)

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:158,434,394...158,628,028

LPAR1

lysophosphatidic acid receptor 1

ISO

PMID:19000703

RGD:2317680

NCBI chr 9:82,013,960...82,179,227
Ensembl chr 9:110,179,600...110,279,038

LRAT

lecithin retinol acyltransferase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747

LRP1B

LDL receptor related protein 1B

exacerbates

ISO

protein:increased expression:liver (human)
DNA:mutations:multiple: (human)

PMID:33324588 PMID:33391418

RGD:150429776 RGD:150429785

NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243

LRRC1

leucine rich repeat containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:53,352,000...53,480,508
Ensembl chr 6:54,987,147...55,115,866

LRRC56

leucine rich repeat containing 56

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 More...

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

LRRC59

leucine rich repeat containing 59

ISO

CTD Direct Evidence: marker/mechanism

PMID:30705370

NCBI chr17:44,475,661...44,492,021
Ensembl chr17:49,349,738...49,366,039

LYVE1

lymphatic vessel endothelial hyaluronan receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:10,690,086...10,702,785
Ensembl chr11:10,417,223...10,428,170

LZTR1

leucine zipper like post translational regulator 1

ISO

DNA:missense mutation:cds, liver (human)

PMID:28622513

RGD:151893487

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

MAD2L1

mitotic arrest deficient 2 like 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:28284560 PMID:39316419

NCBI chr 4:112,247,808...112,255,202
Ensembl chr 4:123,397,355...123,405,535

MAGEA1

MAGE family member A1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:142,727,982...142,732,563

MAP2K2

mitogen-activated protein kinase kinase 2

exacerbates

ISO

mRNA:increased expression:liver (human)
protein:increased expression:liver, cytosol (rat)

PMID:9397988 PMID:33553243

RGD:150530475 RGD:150530477

NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933

MAP2K4

mitogen-activated protein kinase kinase 4

ISO

protein:decreased expression:liver (human)

PMID:32850377

RGD:150429765

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

MAP3K1

mitogen-activated protein kinase kinase kinase 1

exacerbates

ISO

mRNA:decreased expression:liver (human)

PMID:31310010

RGD:150573714

NCBI chr 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959

MAP3K8

mitogen-activated protein kinase kinase kinase 8

ameliorates

ISO

PMID:26560698

RGD:11342977

NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824

MAP4K4

mitogen-activated protein kinase kinase kinase kinase 4

severity
ameliorates
treatment

ISO

human recombinant gene and cell line in a mouse model
human cell line in a mouse model

PMID:21196414 PMID:27010469 PMID:31922225

RGD:151347673 RGD:151347674 RGD:151347839

Ensembl chr2A:102,750,221...102,945,263

MAPK1

mitogen-activated protein kinase 1

ISO

protein:increased expression:liver

PMID:27468214

RGD:401976278

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

MAPK14

mitogen-activated protein kinase 14

exacerbates
treatment

ISO

PMID:23271722 PMID:25216638

RGD:151665347 RGD:151665348

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

MAPK8

mitogen-activated protein kinase 8

ameliorates

ISO

protein:decreased phosphorylation:liver (human)

PMID:33875785

RGD:150340688

NCBI chr10:45,806,748...45,936,362

MAPT

microtubule associated protein tau

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129

MARCO

macrophage receptor with collagenous structure

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385

MAT1A

methionine adenosyltransferase 1A

ISO

CTD Direct Evidence: marker/mechanism

PMID:12060674

NCBI chr10:76,677,815...76,697,512
Ensembl chr10:80,280,063...80,298,291

MBL2

mannose binding lectin 2

susceptibility
no_association
severity

ISO

associated with hepatitis B;DNA:SNP:exon:
associated with viral hepatitis;DNA:polymorphisms:exon:
DNA:SNPs:promoter:rs7096206(human)
associated with hepatitis C;DNA:SNP: :221C>G(rs709620)(human)
protein:decreased expression:plasma
associated with hepatitis B-related cirrhosis;DNA:SNP: :rs11003123(G>A)(human)

RGD:14696813 RGD:14696814 RGD:14696829 RGD:14696833 RGD:14696835 RGD:14696836

PMID:18221301 PMID:21733090 PMID:25787238 PMID:26857650 PMID:27298104 More...

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

MBTPS1

membrane bound transcription factor peptidase, site 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:64,719,971...64,783,119
Ensembl chr16:84,063,508...84,126,000

MBTPS2

membrane bound transcription factor peptidase, site 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:14,470,268...14,529,854
Ensembl chr X:21,825,780...21,883,550

MCM10

minichromosome maintenance 10 replication initiation factor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:13,165,811...13,215,024
Ensembl chr10:13,138,824...13,187,991

MCM2

minichromosome maintenance complex component 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:124,643,362...124,667,121
Ensembl chr 3:131,950,887...131,974,641

MCM7

minichromosome maintenance complex component 7

susceptibility

ISO

associated with hepatitis B;DNA:SNP:promoter: (rs999885) (human)
associated with hepatitis B;miRNA:increased expression:liver (human)

PMID:24416400 PMID:27298561

RGD:15042853 RGD:15042885

NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720

MCM9

minichromosome maintenance 9 homologous recombination repair factor

ISO

OMIM:114550

NCBI chr 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865

MDM2

MDM2 proto-oncogene

susceptibility

ISO

DNA:transversion:promoter:g.-309T>G (human)

PMID:20019189

RGD:2317357

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

ME1

malic enzyme 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:81,107,569...81,320,050
Ensembl chr 6:84,382,732...84,595,701

MECP2

methyl-CpG binding protein 2

ISO

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver

PMID:11844796 PMID:26189965

RGD:2289670

NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854

MED1

mediator complex subunit 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:20007298

NCBI chr17:17,836,350...17,883,610
Ensembl chr17:18,050,474...18,095,118

MELK

maternal embryonic leucine zipper kinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:36,419,974...36,522,584
Ensembl chr 9:37,219,170...37,321,318

MET proto-oncogene, receptor tyrosine kinase

severity

ISO

protein:increased expression:liver (human)
ClinVar Annotator: match by term: Hepatocellular cancer

RGD
ClinVar
OMIM

PMID:21774103 PMID:21970370 PMID:22703879 PMID:24728327 PMID:25741868 More...

RGD:152995524

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:39,244,438...39,259,156
Ensembl chr 1:40,569,706...40,584,438

MKI67

marker of proliferation Ki-67

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

MLXIPL

MLX interacting protein like

ISO

CTD Direct Evidence: marker/mechanism

Ensembl chr 7:80,745,765...80,776,153

MME

membrane metalloendopeptidase

ISO

PMID:8302012

RGD:13801035

NCBI chr 3:152,085,694...152,240,148
Ensembl chr 3:160,197,566...160,292,119

MMP14

matrix metallopeptidase 14

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

MMP2

matrix metallopeptidase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:20084675

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

MMP9

matrix metallopeptidase 9

ISO

CTD Direct Evidence: marker/mechanism

PMID:20084675 PMID:21681821

RGD:8547864

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

MOGAT2

monoacylglycerol O-acyltransferase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,779,443...70,792,409
Ensembl chr11:74,079,287...74,092,710

MPL

MPL proto-oncogene, thrombopoietin receptor

ISO

human cells in mouse model

PMID:23157389

RGD:126925755

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

MPO

myeloperoxidase

susceptibility
disease_progression

ISO

associated with liver cirrhosis; DNA:SNP:promoter:-463G>A( rs2333227)(human)
CTD Direct Evidence: marker/mechanism
associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-463G>A(human)

PMID:19731237 PMID:21907168

RGD:26923907 RGD:27095879

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

MRO

maestro

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:44,172,007...44,202,095
Ensembl chr18:47,522,590...47,543,216

MSH3

mutS homolog 3

ISO

ClinVar Annotator: match by term: Hepatocellular cancer

NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469

MSH5

mutS homolog 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,401,343...31,424,665
Ensembl chr 6:32,290,511...32,311,085

MTBP

MDM2 binding protein

ISO

CTD Direct Evidence: marker/mechanism

PMID:29765550

NCBI chr 8:117,135,172...117,213,360
Ensembl chr 8:119,903,633...119,980,911

MTDH

metadherin

treatment

ISO

human cells in a mouse model

PMID:26351209

RGD:11096879

NCBI chr 8:94,282,432...94,368,516
Ensembl chr 8:96,473,247...96,551,341

MTHFD2

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase

ISO

mRNA:increased expression:liver

PMID:3878730

RGD:2302305

NCBI chr2A:74,270,161...74,285,790
Ensembl chr2A:75,777,028...75,792,699

MTHFR

methylenetetrahydrofolate reductase

disease_progression
susceptibility
onset

ISO

DNA:SNP: :677C>T(human)
DNA:SNPs: :677C>T, 1298A>C(human)
DNA:SNP,haplotype: :677C>T, 1298A>C(human)
DNA:SNP: :1298A>C(human)

PMID:17503006 PMID:17659576 PMID:19035314 PMID:23996892

RGD:14696703 RGD:14696704 RGD:14696707 RGD:14696708

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

MTOR

mechanistic target of rapamycin kinase

severity

ISO

CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver (human)

PMID:21147110 PMID:25371154

RGD:152995471

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

susceptibility

ISO

DNA:SNP: :66A>G(human)

PMID:19035314

RGD:14696707

NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322

MVK

mevalonate kinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524

MYBL2

MYB proto-oncogene like 2

ISO

CTD Direct Evidence: marker/mechanism

RGD:6903288 RGD:7240567 RGD:7240695 RGD:7241004

NCBI chr20:40,005,482...40,053,324
Ensembl chr20:41,099,368...41,146,423

MYC

MYC proto-oncogene, bHLH transcription factor

treatment
severity

ISO

OMIM:114550
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (human)
mRNA:increased expression:liver (rat)

RGD
MouseDO
CTD

PMID:9029167 PMID:12029619 PMID:15565109 PMID:21644509 PMID:22076107 More...

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

MYD88

MYD88 innate immune signal transduction adaptor

exacerbates
treatment
ameliorates

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:150520022 RGD:150520169 RGD:150521532 RGD:150521534 RGD:150524327 RGD:150524329 RGD:150524330 RGD:150524334 RGD:150530285

PMID:17615358 PMID:24603331 PMID:26985932 PMID:28370778 PMID:29022910 More...

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

NAT2

N-acetyltransferase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

NBN

nibrin

ISO

ClinVar Annotator: match by term: Hepatocellular cancer

PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More...

NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307

NCAPG

non-SMC condensin I complex subunit G

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:12,232,614...12,265,320
Ensembl chr 4:17,524,826...17,571,798

NCAPH

non-SMC condensin I complex subunit H

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:102,939,357...102,980,091
Ensembl chr2A:97,258,412...97,299,906

NCOA2

nuclear receptor coactivator 2

exacerbates

ISO

PMID:22556267 PMID:28273073

RGD:153002573 RGD:153002576

NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479

NDC80

NDC80 kinetochore complex component

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:11,666,099...11,711,456
Ensembl chr18:13,972,637...14,018,261

NEIL3

nei like DNA glycosylase 3

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (human)

PMID:28284560 PMID:35693827

NCBI chr 4:169,503,942...169,556,654
Ensembl chr 4:181,738,803...181,795,082

NEK2

NIMA related kinase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:187,225,947...187,243,605
Ensembl chr 1:192,092,885...192,105,737

NF2

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

disease_progression

ISO

DNA, protein:SNP, increased expression:intron, liver
protein:decreased expression:liver

PMID:26443326 PMID:27289045 PMID:29130106

RGD:11076529 RGD:150530489 RGD:150530504

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

NFE2L1

NFE2 like bZIP transcription factor 1

ISO

OMIM:114550

NCBI chr17:9,476,482...9,489,661
Ensembl chr17:9,657,847...9,671,040

NFE2L2

NFE2 like bZIP transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:22561517 PMID:31546024

RGD:21201310

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

NFKB1

nuclear factor kappa B subunit 1

disease_progression
treatment

ISO

associated with Chronic Hepatitis B;DNA:insertion/deletion:3'utr: -94ins/delATTG (rs28720239) (human)

PMID:19797428 PMID:25999787

RGD:152177911 RGD:40400751

NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098

NFKBIA

NFKB inhibitor alpha

susceptibility
disease_progression

ISO

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)

PMID:19797428 PMID:22022477 PMID:25223483

RGD:40400751 RGD:40902986

NCBI chr14:16,155,331...16,158,588

NKX3-1

NK3 homeobox 1

treatment

ISO

mRNA:decreased expression:liver
human gene in a mouse model

PMID:28972178

RGD:14401599

NCBI chr 8:22,926,145...22,930,396
Ensembl chr 8:19,863,275...19,864,942

NLRC3

NLR family CARD domain containing 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:30081150

NCBI chr16:2,463,940...2,487,961
Ensembl chr16:3,637,612...3,674,088

NLRC5

NLR family CARD domain containing 5

ISO

protein:increased expression:liver

PMID:27338800

RGD:15003194

NCBI chr16:37,267,541...37,361,369
Ensembl chr16:56,433,204...56,494,027

NME1

NME/NM23 nucleoside diphosphate kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636

NNMT

nicotinamide N-methyltransferase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:109,174,490...109,186,758
Ensembl chr11:113,016,613...113,029,581

NOS2

nitric oxide synthase 2

treatment

ISO

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

NOTCH3

notch receptor 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

NR0B2

nuclear receptor subfamily 0 group B member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:23811326

NCBI chr 1:26,174,055...26,176,689
Ensembl chr 1:27,230,362...27,232,942

NR1H2

nuclear receptor subfamily 1 group H member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:23213087 PMID:23811326 PMID:24954587 PMID:25496033

NCBI chr19:47,340,077...47,346,737
Ensembl chr19:56,243,124...56,250,024

NR1H4

nuclear receptor subfamily 1 group H member 4

ISO

mRNA:splice variant(s):liver (human)
OMIM:114550
CTD Direct Evidence: marker/mechanism
intestinally expressed human gene in mouse model

RGD
MouseDO
CTD

RGD:14696796 RGD:14928330 RGD:14928334

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

NRAS

NRAS proto-oncogene, GTPase

severity
disease_progression

ISO

mRNA, protein:increased expression:liver (mouse, human)
human gene in mouse model

PMID:21993994 PMID:30685691

RGD:14696775 RGD:14696793

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

NRG1

neuregulin 1

disease_progression

ISO

associated with hepatitis C;mRNA:altered expression:liver (human
mRNA:increased expression:liver (human)

PMID:17393520 PMID:27514687

RGD:39456104 RGD:39456110

NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977

NRP1

neuropilin 1

disease_progression

ISO

protein:decreased expression:liver

PMID:25333267

RGD:126848812

NCBI chr10:33,298,918...33,456,466
Ensembl chr10:33,883,173...34,039,648

NUF2

NUF2 component of NDC80 kinetochore complex

disease_progression
treatment

ISO

CTD Direct Evidence: marker/mechanism

PMID:28284560 PMID:30653265 PMID:31933938

RGD:28867240 RGD:28912742

NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364

NUSAP1

nucleolar and spindle associated protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:20,273,953...20,322,512
Ensembl chr15:38,517,591...38,564,695

OIT3

oncoprotein induced transcript 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:69,440,607...69,480,590
Ensembl chr10:71,904,656...71,943,418

OLFML2A

olfactomedin like 2A

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:95,897,823...95,936,218
Ensembl chr 9:124,424,301...124,453,168

OLFML2B

olfactomedin like 2B

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:137,401,323...137,442,611
Ensembl chr 1:141,200,355...141,241,629

ORC1

origin recognition complex subunit 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653

OTC

ornithine transcarbamylase

severity

ISO

mRNA:altered expression:liver tumor (human)

NCBI chr X:30,796,828...30,868,144
Ensembl chr X:38,505,232...38,575,819

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

disease_progression

ISO

mRNA,protein:decreased expression:liver:

PMID:21569763

RGD:12790589

NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994

PAMR1

peptidase domain containing associated with muscle regeneration 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:35,404,636...35,498,705
Ensembl chr11:35,279,225...35,373,862

PARK7

Parkinsonism associated deglycase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271

PARP1

poly(ADP-ribose) polymerase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:18695907

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

PBK

PDZ binding kinase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:27,084,789...27,112,986
Ensembl chr 8:24,285,395...24,313,658

PCK1

phosphoenolpyruvate carboxykinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920

PCLAF

PCNA clamp associated factor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:43,311,115...43,331,979
Ensembl chr15:61,602,830...61,617,303

PCNA

proliferating cell nuclear antigen

treatment

ISO

protein:increased expression:liver:

PMID:23219601 PMID:25999787

RGD:10448993 RGD:152177911

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

PDCD1

programmed cell death 1

disease_progression

ISO

associated with hepatitis B
associated with hepatitis B;DNA:SNP: : +8669 A>G (human)

PMID:21912640 PMID:27034168

RGD:40818257 RGD:41410800

NCBI chr12:130,849,353...130,858,776

PDGFB

platelet derived growth factor subunit B

ISO

CTD Direct Evidence: marker/mechanism

PMID:20506153

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

PDGFRL

platelet derived growth factor receptor like

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma

OMIM
ClinVar

PMID:7898930

NCBI chr 8:16,795,211...16,862,637
Ensembl chr 8:13,747,164...13,816,294

PDIA3

protein disulfide isomerase family A member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,706,520...22,731,672
Ensembl chr15:40,794,144...40,821,763

PDK4

pyruvate dehydrogenase kinase 4

ISO

CTD Direct Evidence: marker/mechanism

PMID:28003426

NCBI chr 7:87,540,600...87,553,673
Ensembl chr 7:101,128,060...101,141,157

PFAS

phosphoribosylformylglycinamidine synthase

ISO

protein:increased activity:hepatoma (rat)
protein:increased expression:liver

PMID:6722784

RGD:5135276

NCBI chr17:43,389,389...43,409,454
Ensembl chr17:48,121,606...48,141,720

PFN2

profilin 2

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr 3:146,986,364...146,992,558

PGK1

phosphoglycerate kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:67,280,269...67,302,307
Ensembl chr X:77,391,805...77,414,459

PHB1

prohibitin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:8,189,555...8,200,491
Ensembl chr17:8,175,968...8,186,790

PHF6

PHD finger protein 6

exacerbates

ISO

mRNA:increased expression:liver (human)

PMID:30888215 PMID:31329335

RGD:155260288 RGD:155260308

NCBI chr X:123,521,956...123,578,256
Ensembl chr X:133,822,260...133,873,990

PHLDA1

pleckstrin homology like domain family A member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:73,530,456...73,543,951
Ensembl chr12:76,387,313...76,388,502

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

treatment
no_association
susceptibility
severity

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma
DNA:mutation:exon:
DNA:SNPs: :rs17849071,rs17849079(human)
DNA:mutations:exons:

RGD:11556371 RGD:14402404 RGD:14402405 RGD:152177911

PMID:15016963 PMID:15520168 PMID:15608678 PMID:16331247 PMID:17376864 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

PIK3CB

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

treatment

ISO

NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

treatment

ISO

PMID:25999787 PMID:31801250

RGD:151893509 RGD:152177911

NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

treatment

ISO

NCBI chr19:17,632,265...17,649,664
Ensembl chr19:18,611,179...18,624,177

PIK3R3

phosphoinositide-3-kinase regulatory subunit 3

treatment

ISO

NCBI chr 1:45,345,946...45,481,031
Ensembl chr 1:46,700,153...46,792,920

PINX1

PIN2 (TERF1) interacting telomerase inhibitor 1

disease_progression

ISO

associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human)

PMID:27221889

RGD:152977752

NCBI chr 8:8,366,819...8,443,359

PITPNM3

PITPNM family member 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379

PITX1

paired like homeodomain 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350

PKM

pyruvate kinase M1/2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832

PKMYT1

protein kinase, membrane associated tyrosine/threonine 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,914,651...1,946,407
Ensembl chr16:3,082,265...3,094,477

PKP1

plakophilin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,881,154...176,930,814
Ensembl chr 1:181,182,829...181,232,347

PLAC8

placenta associated 8

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:41,089,847...41,115,061
Ensembl chr 4:46,943,940...46,964,131

PLAU

plasminogen activator, urokinase

ISO

OMIM:114550

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

PLCG1

phospholipase C gamma 1

ameliorates

ISO

human cell line in a mouse model

PMID:30623526

RGD:151356937

NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145

PLK1

polo like kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:14,420,972...14,432,821
Ensembl chr16:23,928,773...23,940,779

PLK4

polo like kinase 4

sexual_dimorphism

ISO

DNA:hypermethylation:promoter

PMID:21324136

RGD:27226690

NCBI chr 4:120,044,423...120,062,544
Ensembl chr 4:131,349,562...131,371,054

PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

treatment

ISO

mRNA, protein:increased expression:liver (human)

PMID:29059470

RGD:155791679

NCBI chr 7:93,347,335...93,358,921
Ensembl chr 7:106,587,858...106,599,605

PLVAP

plasmalemma vesicle associated protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:16,840,151...16,864,334
Ensembl chr19:17,814,574...17,838,271

PLXDC1

plexin domain containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:18,117,840...18,208,788
Ensembl chr17:18,395,119...18,484,094

PML

PML nuclear body scaffold

disease_progression
ameliorates
exacerbates

ISO

protein:increased expression:liver (human)
mRNA:increased expression:liver (mouse)
associated with hepatitis C

PMID:11511788 PMID:26118777 PMID:31144474

RGD:41404685 RGD:41404687 RGD:41404690

NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883

PMS2

PMS1 homolog 2, mismatch repair system component

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma

NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984

PNPLA3

patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase

ISO

associated with Hepatitis C, Chronic;DNA:SNP: :rs738409 (p.I148M) (human)

PMID:21319195

RGD:14981585

NCBI chr22:24,812,831...24,836,161
Ensembl chr22:43,004,499...43,027,003

PNPT1

polyribonucleotide nucleotidyltransferase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2A:55,792,412...55,848,242
Ensembl chr2A:56,931,365...56,986,326

POLG

DNA polymerase gamma, catalytic subunit

susceptibility

ISO

DNA:SNPs:introns: (rs1061316, rs758130) (human)

PMID:28457473

RGD:15039387

NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739

PON1

paraoxonase 1

disease_progression

ISO

mRNA:decreased expression:liver (human)

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

POT1

protection of telomeres 1

disease_progression

ISO

associated with hepatitis B;DNA:SNP: :rs7784168(human)

PMID:23907815

RGD:152975963

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

PPARA

peroxisome proliferator activated receptor alpha

susceptibility

ISO

associated with hepatitis B;DNA:missense mutation:cds:p.L162V (human)

PMID:19119483

RGD:15042881

Ensembl chr22:45,218,364...45,302,970

PPARG

peroxisome proliferator activated receptor gamma

severity

ISO

CTD Direct Evidence: therapeutic
protein:decreased expression:liver

PMID:16374840 PMID:27451128

RGD:14694822

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

PPAT

phosphoribosyl pyrophosphate amidotransferase

ISO

protein:increased activity:hepatoma (rat)

PMID:6327016

RGD:5135035

NCBI chr 4:67,491,407...67,533,822
Ensembl chr 4:74,059,966...74,102,002

PPP1R1A

protein phosphatase 1 regulatory inhibitor subunit 1A

ISO

CTD Direct Evidence: marker/mechanism

PMID:15010824

NCBI chr12:34,158,956...34,167,350
Ensembl chr12:34,882,975...34,898,218

PPP1R9A

protein phosphatase 1 regulatory subunit 9A

onset

ISO

protein:increased expression:liver (rat)

PMID:20935162

RGD:10002734

NCBI chr 7:86,863,919...87,251,634
Ensembl chr 7:100,455,357...100,833,220

PPP1R9B

protein phosphatase 1 regulatory subunit 9B

severity

ISO

mRNA, protein:decreased expression:liver (human)

PMID:23591196

RGD:10043803

NCBI chr17:44,224,007...44,240,906
Ensembl chr17:49,098,089...49,126,932

PPP4R3C

protein phosphatase 4 regulatory subunit 3C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:20,054,934...20,058,418
Ensembl chr X:27,411,142...27,414,318

PRC1

protein regulator of cytokinesis 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071

PRDM1

PR/SET domain 1

disease_progression

ISO

associated with hepatitis B;
associated with hepatitis B;DNA:SNP: :rs1010273(human)

PMID:31100710 PMID:31376415

RGD:150530465 RGD:150530466

NCBI chr 6:103,899,410...103,923,389
Ensembl chr 6:107,773,229...107,796,815

PRDX1

peroxiredoxin 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:27517622

NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018

PRDX2

peroxiredoxin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369

PRDX6

peroxiredoxin 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:148,988,836...149,000,345

PREX2

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

exacerbates

ISO

mRNA:decreased expression:liver (human)
mRNA:increased expression:liver (human)
protein:increased expression:liver (human)

PMID:25151370 PMID:28000796 PMID:28205209 PMID:31776854

RGD:151665185 RGD:151665186 RGD:151665188 RGD:151665343

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

PRKN

parkin RBR E3 ubiquitin protein ligase

severity

ISO

protein:decreased expression:liver (human)

PMID:28862485

RGD:13432206

NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770

PRL

prolactin

onset

ISO

protein:increased expression:serum (human)

PMID:22392353

RGD:125097525

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

PROM1

prominin 1

ISO

mRNA:increased expression:liver (mouse)

NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454

PTCH1

patched 1

disease_progression
severity

ISO

PMID:18538319 PMID:22911366

RGD:150523837 RGD:150523842

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

PTEN

phosphatase and tensin homolog

severity
treatment
exacerbates

ISO

CTD Direct Evidence: marker/mechanism
OMIM:114550
protein:decreased expression:liver (human)
associated with hepatitis B;protein:decreased expression:liver (human)
associated with hepatitis C, liver cirrhosis;protein:decreased expression:liver (human)

CTD
MouseDO
RGD

PMID:12115563 PMID:12673720 PMID:27022031 PMID:29303510 PMID:30690477 More...

RGD:127285591 RGD:127285603 RGD:127285610 RGD:151893509 RGD:152995524

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

PTGS2

prostaglandin-endoperoxide synthase 2

treatment
susceptibility
severity

ISO

CTD Direct Evidence: marker/mechanism
mRNA,protein:decreased expression:liver
DNA:SNP:promoter:-1195A>G (rs689466) (human)
protein:increased expression:liver, cytosol

RGD:14695010 RGD:14695011 RGD:14695012 RGD:152177911 RGD:2300283

PMID:11872629 PMID:12024111 PMID:14563831 PMID:15800977 PMID:16374840 More...

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

PTH1R

parathyroid hormone 1 receptor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431

PTK2

protein tyrosine kinase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:14578863 PMID:17203219

RGD:2292584

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

PTPN13

protein tyrosine phosphatase non-receptor type 13

susceptibility
disease_progression

ISO

DNA:SNP: :p.Y2081D(human)

PMID:16489062 PMID:26801674

RGD:152176666 RGD:152599190

NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616

PTPRB

protein tyrosine phosphatase receptor type B

disease_progression

ISO

mRNA:decreased expression:liver (human)

PMID:30237408

RGD:151361293

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

PTTG1

PTTG1 regulator of sister chromatid separation, securin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:155,812,745...155,819,684
Ensembl chr 5:162,506,832...162,513,869

PYCARD

PYD and CARD domain containing

ISO

CTD Direct Evidence: marker/mechanism

PMID:17471463

NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828

PYGL

glycogen phosphorylase L

ISO

CTD Direct Evidence: marker/mechanism

PMID:2885971

NCBI chr14:31,494,172...31,533,545
Ensembl chr14:49,746,309...49,832,786

RAC1

Rac family small GTPase 1

exacerbates

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver (human)
mRNA:increased expression:liver (human)

PMID:18506888 PMID:20522449 PMID:33482578

RGD:153298967 RGD:153350129

NCBI chr 7:7,039,379...7,068,866

RACGAP1

Rac GTPase activating protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:38,729,885...38,766,063
Ensembl chr12:39,625,796...39,672,256

RAD21

RAD21 cohesin complex component

exacerbates
susceptibility
treatment

ISO

protein:increased expression:liver (human)
associated with hepatitis c, liver cirrhosis;mRNA:increased expression:liver (human)
human cells in a mouse model

PMID:28434945 PMID:30698808 PMID:32596342 PMID:33251678

RGD:150520026 RGD:150520029 RGD:150520030 RGD:150520035

NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421

RAD50

RAD50 double strand break repair protein

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:16385572 PMID:18281469 PMID:19409520 PMID:24894818 PMID:25452441 More...

NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261

RAD52

RAD52 homolog, DNA repair protein

onset
susceptibility

ISO

mRNA,protein:increased expression:liver (human)
associated with hepatitis B;DNA:SNP:3'utr: (rs7963551) (human)

PMID:24729511 PMID:31719794

RGD:151361199 RGD:151361207

NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668

RAD54L

RAD54 like

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:45,549,586...45,581,711
Ensembl chr 1:46,905,598...46,936,259

RARA

retinoic acid receptor alpha

ISO

CTD Direct Evidence: marker/mechanism

PMID:18026104

NCBI chr17:16,932,485...16,980,958

RB1

RB transcriptional corepressor 1

treatment

ISO

CTD Direct Evidence: marker/mechanism

PMID:12029619 PMID:14961299 PMID:33841550

NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575

RBM10

RNA binding motif protein 10

disease_progression

ISO

mRNA:decreased expression:liver

PMID:32572914

RGD:151356975

NCBI chr X:39,582,480...39,623,749
Ensembl chr X:47,440,815...47,481,204

RCAN1

regulator of calcineurin 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:20,889,123...20,987,964
Ensembl chr21:34,258,355...34,267,025

RECQL

RecQ like helicase

disease_progression

ISO

protein:increased expression:liver

PMID:18422747

RGD:2317370

NCBI chr12:64,796,383...64,829,165
Ensembl chr12:67,400,315...67,432,724

RET

ret proto-oncogene

severity

ISO

protein:increased expression:liver (human)
ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:7784092 PMID:7845675 PMID:7911697 PMID:8807338 PMID:8918855 More...

RGD:150340602

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

RGN

regucalcin

ISO

protein:decreased expression:liver

PMID:21683810

RGD:5509919

NCBI chr X:39,513,135...39,530,188
Ensembl chr X:47,371,226...47,388,881

RICTOR

RPTOR independent companion of MTOR complex 2

severity

ISO

mRNA, protein:increased expression:liver (human)

PMID:25371154 PMID:29303510

RGD:152995471 RGD:152995524

NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830

RIT1

Ras like without CAAX 1

ameliorates

ISO

human cells in mouse model

PMID:31247273

RGD:152999016

NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942

RND3

Rho family GTPase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:9,387,338...9,406,785
Ensembl chr2B:154,810,039...154,832,768

RNF157

ring finger protein 157

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,091,033...70,188,768
Ensembl chr17:75,645,101...75,740,002

ring finger protein 43

exacerbates

ISO

human cells in a mouse model

PMID:23136185

RGD:151361219

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

RNF6

ring finger protein 6

disease_progression

ISO

PMID:30496760

RGD:151665757

NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629

ROBO1

roundabout guidance receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308

RPS6

ribosomal protein S6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 9:19,185,455...19,189,504
Ensembl chr 9:19,674,380...19,677,722

RPS6KA3

ribosomal protein S6 kinase A3

ISO

CTD Direct Evidence: marker/mechanism

PMID:22561517

NCBI chr X:12,772,368...12,893,062
Ensembl chr X:20,133,898...20,251,244

RRM1

ribonucleotide reductase catalytic subunit M1

ISO

CTD Direct Evidence: marker/mechanism

PMID:18230555

NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474

RRM2

ribonucleotide reductase regulatory subunit M2

ISO

CTD Direct Evidence: marker/mechanism

PMID:18230555 PMID:28284560

NCBI chr2A:10,119,508...10,128,318
Ensembl chr2A:10,275,598...10,284,640

RSPO3

R-spondin 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:124,906,783...124,985,758
Ensembl chr 6:129,023,450...129,101,695

RTKN

rhotekin

ISO

mRNA:increased expression:liver

PMID:27922690

RGD:19165144

NCBI chr2A:74,492,520...74,509,037
Ensembl chr2A:75,998,494...76,015,046

RTP3

receptor transporter protein 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:17693185

NCBI chr 3:46,397,231...46,400,221
Ensembl chr 3:47,502,087...47,505,062

RUNX3

RUNX family transcription factor 3

ISO

CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:liver

PMID:17094378 PMID:28458013

RGD:126775147

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

RYR3

ryanodine receptor 3

disease_progression

ISO

DNA:SNP:3'UTR:rs1044129(human)

PMID:26309413

RGD:155882454

NCBI chr15:11,816,430...12,379,101
Ensembl chr15:30,817,428...31,214,494

S100A9

S100 calcium binding protein A9

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr 1:128,709,175...128,712,461
Ensembl chr 1:132,338,246...132,341,497

SARDH

sarcosine dehydrogenase

severity

ISO

mRNA:altered expression:liver tumor (human)

NCBI chr 9:104,786,774...104,864,480
Ensembl chr 9:133,398,806...133,473,642

SAV1

salvador family WW domain containing protein 1

ISO

OMIM:114550

NCBI chr14:31,223,140...31,257,871
Ensembl chr14:49,525,687...49,560,347

SCAP

SREBF chaperone

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:47,314,535...47,379,455
Ensembl chr 3:48,414,012...48,479,845

SCD

stearoyl-CoA desaturase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:96,948,212...96,965,633
Ensembl chr10:100,429,615...100,442,776

SERPINA1

serpin family A member 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:6258829 PMID:21472284

NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419

SERPINA4

serpin family A member 4

ISO

CTD Direct Evidence: therapeutic

PMID:19709125

NCBI chr14:75,185,501...75,194,061
Ensembl chr14:94,517,341...94,525,820

SERPINB5

serpin family B member 5

disease_progression

ISO

associated with hepatitis B;

PMID:26296971

RGD:11520929

NCBI chr18:56,836,403...56,864,533
Ensembl chr18:60,148,552...60,176,624

SERPINF1

serpin family F member 1

ISO

associated with Human Viral Hepatitis, liver cirrhosis;protein:increased expression:serum (human)

PMID:27748324

RGD:27226704

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

SET

SET nuclear proto-oncogene

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma

PMID:26822237

NCBI chr 9:99,806,876...99,819,825
Ensembl chr 9:128,473,806...128,484,563

SF3B1

splicing factor 3b subunit 1

disease_progression
treatment

ISO

mRNA, protein:increased expression:liver

PMID:29954402 PMID:33038489

RGD:126790493 RGD:126790494

NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346

SF3B4

splicing factor 3b subunit 4

severity
treatment

ISO

mRNA, protein:increased expression:liver (human)
human cells in mouse model
mRNA, protein:increased expression:liver(human)
mRNA, protein:increased expression:liver (rat)

PMID:29059470 PMID:30391496

RGD:155791679 RGD:155804298

NCBI chr 1:125,268,113...125,273,405
Ensembl chr 1:128,924,317...128,929,610

SFN

stratifin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580

SFRP1

secreted frizzled related protein 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:40,507,027...40,555,053

SH3GL1

SH3 domain containing GRB2 like 1, endophilin A2

ISO

CTD Direct Evidence: marker/mechanism

PMID:33838155

NCBI chr19:3,383,267...3,423,165
Ensembl chr19:4,329,750...4,340,121

SHC1

SHC adaptor protein 1

ISO

protein:increased expression, increased phosphorylation:hepatocyte

PMID:15375560

RGD:1643188

NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008

SHH

sonic hedgehog signaling molecule

ISO

CTD Direct Evidence: marker/mechanism

PMID:26189965

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

SIK2

salt inducible kinase 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:34491613

NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543

SIX1

SIX homeobox 1

severity

ISO

protein:increased expression:liver (human)

PMID:17008870

RGD:11561961

NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494

SKA1

spindle and kinetochore associated complex subunit 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr18:43,745,560...43,764,452
Ensembl chr18:47,093,115...47,111,996

SKA3

spindle and kinetochore associated complex subunit 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:2,481,513...2,503,849
Ensembl chr13:20,790,516...20,812,554

SKP2

S-phase kinase associated protein 2

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver

PMID:12717389 PMID:19533683

RGD:2315050

NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311

SLC22A1

solute carrier family 22 member 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681

SLC25A47

solute carrier family 25 member 47

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr14:80,927,765...80,952,992
Ensembl chr14:100,258,391...100,265,448

SLC26A6

solute carrier family 26 member 6

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:48,547,277...48,557,099
Ensembl chr 3:49,629,237...49,639,039

SLC2A1

solute carrier family 2 member 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:8364915

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

SLC2A2

solute carrier family 2 member 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:8364915

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

SLC38A1

solute carrier family 38 member 1

ameliorates
disease_progression

ISO

PMID:26389641

RGD:151361140

NCBI chr12:42,464,360...42,550,324
Ensembl chr12:43,362,597...43,413,616

SLC5A5

solute carrier family 5 member 5

ISO

CTD Direct Evidence: therapeutic

PMID:15347726 PMID:15520214

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

solute carrier family 7 member 5

ameliorates
disease_progression

ISO

mRNA:increased expression:liver

PMID:7532544 PMID:23696029 PMID:26389641

RGD:151361140 RGD:151361280 RGD:634202

NCBI chr16:68,512,407...68,552,763

SLIT2

slit guidance ligand 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:19100240

NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656

SMAD2

SMAD family member 2

ISO

PMID:18971187

RGD:12880056

NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530

SMAD family member 4

disease_progression

ISO

protein:decreased expression:liver
protein:increased expression:liver:

PMID:18971187 PMID:22799322 PMID:23922662 PMID:29924446

RGD:12880056 RGD:18182921 RGD:21066341 RGD:21066342

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

SMAD7

SMAD family member 7

ISO

mRNA:increased expression:liver (human)

PMID:25602745

RGD:14401589

NCBI chr18:42,306,324...42,337,214

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ISO

DNA:SNPs: :rs11879293, rs2072382 (human)

PMID:24556940

RGD:127285650

NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952

SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

disease_progression

ISO

mRNA:decreased expression:liver

PMID:27111394

RGD:127285647

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

SMARCC1

SWI/SNF related BAF chromatin remodeling complex subunit C1

ameliorates

ISO

mRNA, protein:increased expression:liver (human)

PMID:32514535

RGD:151347860

NCBI chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248

SMC3

structural maintenance of chromosomes 3

exacerbates

ISO

mRNA:increased editing:cds:p.K96R,p.Q103R(human)

PMID:29996118

RGD:156430111

NCBI chr10:107,164,086...107,201,220
Ensembl chr10:110,613,824...110,653,075

SMG9

SMG9 nonsense mediated mRNA decay factor

severity

ISO

PMID:34456727

RGD:155882446

NCBI chr19:40,679,952...40,704,104
Ensembl chr19:49,285,796...49,309,980

SMO

smoothened, frizzled class receptor

disease_progression

ISO

DNA:SNP: :rs3824 (human)

PMID:25944162

RGD:150340548

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

SNAI1

snail family transcriptional repressor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:35841383

NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733

SNRPE

small nuclear ribonucleoprotein polypeptide E

ISO

human gene in a mouse model

PMID:21688285

RGD:10768833

NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937

SNW1

SNW domain containing 1

severity

ISO

protein:increased expression:liver (human)

PMID:23696020

RGD:11035253

NCBI chr14:58,271,830...58,315,773
Ensembl chr14:77,472,387...77,517,315

SNX27

sorting nexin 27

ISO

CTD Direct Evidence: marker/mechanism

PMID:36029209

NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863

SOAT1

sterol O-acyltransferase 1

exacerbates

ISO

associated with hepatitis B;protein:increased expression:liver (human)

PMID:30814741

RGD:126925204

NCBI chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909

SOAT2

sterol O-acyltransferase 2

ISO

PMID:16274362

RGD:1581190

NCBI chr12:35,632,018...35,653,227
Ensembl chr12:36,413,954...36,434,074

SOCS1

suppressor of cytokine signaling 1

treatment

ISO

DNA:hypermethylation:CpG island, 5'untranslated region:
associated with liver cirrhosis;DNA:altered methylation:liver:

PMID:14614012 PMID:15235874 PMID:18843197 PMID:22318090

RGD:150573687 RGD:150573689 RGD:150573700 RGD:150573703

NCBI chr16:10,196,432...10,198,205

SOCS2

suppressor of cytokine signaling 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:91,115,319...91,134,191
Ensembl chr12:94,514,455...94,520,748

SOCS3

suppressor of cytokine signaling 3

ISO

CTD Direct Evidence: marker/mechanism

PMID:16831601

NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066

SOD1

superoxide dismutase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr21:18,029,831...18,037,526

SOD2

superoxide dismutase 2

susceptibility
disease_progression

ISO

associated with liver cirrhosis; DNA:SNP:cds:p.Ala16Val(rs1799725)(human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:saliva

RGD:1581242 RGD:26923907 RGD:26923955 RGD:27095881

PMID:15869407 PMID:16767786 PMID:18760346 PMID:19731237 PMID:21472284 More...

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

SOX30

SRY-box transcription factor 30

exacerbates
disease_progression

ISO

PMID:30312695

RGD:151660341

NCBI chr 5:153,022,109...153,067,734
Ensembl chr 5:159,640,126...159,737,776

SPAG9

sperm associated antigen 9

ISO

associated with Human Viral Hepatitis

PMID:29344208

RGD:30296654

NCBI chr17:45,053,292...45,211,488
Ensembl chr17:49,924,650...50,081,918

SPC25

SPC25 component of NDC80 kinetochore complex

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr2B:56,148,325...56,190,851
Ensembl chr2B:173,613,457...173,655,791

SPOCK1

SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1

ameliorates

ISO

human cells in mouse model

PMID:30710422

RGD:153344549

NCBI chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416

SPOP

speckle type BTB/POZ protein

exacerbates

ISO

mRNA:decreased expression:liver (human)
human cells in mouse model

PMID:26156804 PMID:33209975

RGD:11074965 RGD:153298924

NCBI chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623

SPP1

secreted phosphoprotein 1

disease_progression

ISO

mRNA:increased expression:liver (human)

PMID:16047475 PMID:35693827

RGD:153344586 RGD:1581375

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

SPRTN

SprT-like N-terminal domain

ISO

CTD Direct Evidence: marker/mechanism

PMID:25261934

NCBI chr 1:206,889,897...206,906,047
Ensembl chr 1:211,914,082...211,931,093

SRC

SRC proto-oncogene, non-receptor tyrosine kinase

disease_progression

ISO

PMID:9581679

RGD:150521543

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

SREBF1

sterol regulatory element binding transcription factor 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:14563831 PMID:21147110

NCBI chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045

SREBF2

sterol regulatory element binding transcription factor 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

SRF

serum response factor

ISO

PMID:9570363

RGD:1581428

NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768

SRPX

sushi repeat containing protein X-linked

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:30,598,574...30,670,464
Ensembl chr X:38,303,313...38,378,770

SRSF1

serine and arginine rich splicing factor 1

ISO

mRNA:increased expression:liver (human)

PMID:23633480

RGD:9685423

NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425

SRSF2

serine and arginine rich splicing factor 2

treatment
disease_progression

ISO

PMID:28082404 PMID:29278882 PMID:32372053

RGD:150429663 RGD:150429666 RGD:150429692

NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759

ST6GAL1

ST6 beta-galactoside alpha-2,6-sialyltransferase 1

ISO

protein:increased activity:liver:

PMID:9331085

RGD:10043141

NCBI chr 3:183,955,462...184,104,537
Ensembl chr 3:192,488,087...192,569,970

STAB2

stabilin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:101,165,854...101,343,144
Ensembl chr12:104,561,264...104,738,599

STAT1

signal transducer and activator of transcription 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:22488367

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

STAT3

signal transducer and activator of transcription 3

ISO

protein:increased phosphorylation:liver (mouse)

PMID:28100771

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

STAT4

signal transducer and activator of transcription 4

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
Hepatitis B, Chronic; DNA:SNP: intron 3: (rs7574865) (human)

PMID:23242368 PMID:26745093

RGD:11553302

NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011

STC2

stanniocalcin 2

disease_progression

ISO

mRNA:increased expression:liver (human)

NCBI chr 5:168,668,851...168,681,274
Ensembl chr 5:175,575,419...175,587,832

STIM1

stromal interaction molecule 1

ISO

mRNA:increased expression:liver (human)

PMID:23211538

RGD:152995401

NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224

STMN1

stathmin 1

disease_progression

ISO

CTD Direct Evidence: marker/mechanism

PMID:28284560 PMID:28982915

RGD:21408578

NCBI chr 1:25,159,241...25,165,535
Ensembl chr 1:26,208,731...26,230,925

TACC3

transforming acidic coiled-coil containing protein 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019

TAGLN2

transgelin 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:135,269,954...135,277,421
Ensembl chr 1:139,190,519...139,197,953

TALDO1

transaldolase 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:19436114

NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744

TATDN1

TatD DNase domain containing 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:121,172,652...121,223,898
Ensembl chr 8:123,925,580...123,975,908

TBX3

T-box transcription factor 3

disease_progression
severity
ameliorates

ISO

protein:increased expression:liver (human)
human cells in mouse model

PMID:22811581 PMID:26922018 PMID:29295731 PMID:30578408 PMID:33577921

RGD:151361112 RGD:151361114 RGD:151361122 RGD:151361123 RGD:151361132

NCBI chr12:112,240,050...112,254,299
Ensembl chr12:115,620,002...115,631,316

TCF19

transcription factor 19

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:30,904,470...30,909,912
Ensembl chr 6:31,769,893...31,775,236

TCIM

transcriptional and immune response regulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:39,347,441...39,348,795
Ensembl chr 8:36,855,045...36,855,365

TEDC2

tubulin epsilon and delta complex 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,316,181...1,321,075
Ensembl chr16:2,559,493...2,564,370

TEK

TEK receptor tyrosine kinase

ISO

protein:increased expression

PMID:16951510

RGD:1601490

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

TEP1

telomerase associated protein 1

disease_progression
susceptibility

ISO

associated with hepatitis B;DNA:SNPs: :rs1713449,rs1760898, rs872072 (human)
DNA:SNP:intron:rs1760893(human)

PMID:23907815 PMID:27305982

RGD:152975963 RGD:152977750

NCBI chr14:1,240,370...1,285,787
Ensembl chr14:19,293,452...19,332,960

TERT

telomerase reverse transcriptase

no_association
disease_progression
susceptibility
treatment

ISO

ClinVar Annotator: match by term: Hepatocellular carcinoma
DNA:SNP,mutations:promoter:rs2853669 (-245T >C), (-124C > T),(-146C > T)human
DNA:mutations, polymorphisms:promoter,intron, exon:rs2736100,rs2736098(human)
associated with hepatitis B;DNA:SNP: :rs13167280 (human)
DNA:SNPs::rs2736098(human)
DNA:mutations:promoter:

RGD:11564803 RGD:14696767 RGD:14696768 RGD:14696769 RGD:14696770 RGD:150530496 RGD:152975963

PMID:17175353 PMID:19184104 PMID:23000435 PMID:23907815 PMID:25123086 More...

Ensembl chr 5:1,300,960...1,338,872

TET1

tet methylcytosine dioxygenase 1

ISO

protein:decreased expression:liver

PMID:23671639

RGD:9586747

NCBI chr10:65,036,313...65,168,051
Ensembl chr10:67,586,586...67,703,160

TET2

tet methylcytosine dioxygenase 2

ameliorates
severity
disease_progression

ISO

human cells in mouse model
mRNA, protein:increased expression:liver (human)
mRNA, protein:decreased expression:liver (human)
mRNA:decreased expression:liver (human)

PMID:26366235 PMID:29331390 PMID:30070373 PMID:33097695

RGD:150429595 RGD:150429597 RGD:150429684 RGD:150429689

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

TFPI2

tissue factor pathway inhibitor 2

ISO

CTD Direct Evidence: marker/mechanism

PMID:17464989 PMID:28284560

NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099

TFRC

transferrin receptor

ISO

mRNA:increased expression:liver

PMID:16953838

RGD:2292036

NCBI chr 3:193,384,817...193,417,532
Ensembl chr 3:203,333,953...203,373,998

TGFA

transforming growth factor alpha

ISO

associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism

PMID:9029167 PMID:9060843 PMID:15565109

RGD:2317471

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

TGFB1

transforming growth factor beta 1

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (mouse)

PMID:9029167 PMID:28100771

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

TGFB2

transforming growth factor beta 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041

TGFBR2

transforming growth factor beta receptor 2

ISO

mRNA, protein:decreased expression:liver

PMID:14585397

RGD:1601598

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

TGM3

transglutaminase 3

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:2,328,145...2,455,842
Ensembl chr20:2,175,160...2,219,561

tyrosine hydroxylase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

THEM4

thioesterase superfamily member 4

ISO

CTD Direct Evidence: therapeutic

PMID:23392203

NCBI chr 1:127,229,378...127,268,884
Ensembl chr 1:130,876,364...130,912,751

THY1

Thy-1 cell surface antigen

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:114,253,535...114,259,495
Ensembl chr11:118,180,717...118,186,901

TICRR

TOPBP1 interacting checkpoint and replication regulator

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,270,029...68,322,201
Ensembl chr15:87,476,738...87,528,870

TIMD4

T cell immunoglobulin and mucin domain containing 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:152,321,962...152,365,717
Ensembl chr 5:158,305,721...158,349,336

TK1

thymidine kinase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:72,251,416...72,265,308
Ensembl chr17:77,803,749...77,816,747

TLR2

toll like receptor 2

susceptibility

ISO

associated with Hepatitis C, Chronic;DNA:deletion:promoter:-196 to -174(human)

PMID:21500195 PMID:22859216 PMID:27183918

RGD:15090813 RGD:15090815 RGD:18337266

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

TLR3

toll like receptor 3

disease_progression

ISO

PMID:23197495

RGD:21079421

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

TLR4

toll like receptor 4

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
protein:increased expression:liver:
DNA:SNPs, haplotype: :multiples
DNA:SNP: :rs1057317(human)

PMID:21559380 PMID:25179842 PMID:27022031 PMID:28578348

RGD:14700552 RGD:14700557 RGD:14700558

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

TLR7

toll like receptor 7

ISO

CTD Direct Evidence: marker/mechanism

PMID:24990399

NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517

TMEM70

transmembrane protein 70

ISO

CTD Direct Evidence: marker/mechanism

PMID:27914986

NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239

TNF

tumor necrosis factor

disease_progression

ISO

mRNA, protein:increased expression:liver, blood serum (mouse)
CTD Direct Evidence: marker/mechanism

PMID:26569409 PMID:26890368 PMID:27022031

RGD:11344640 RGD:14975171

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

TNFAIP3

TNF alpha induced protein 3

sexual_dimorphism
ameliorates

ISO

mRNA:decreased expression:liver (human)
protein:decreased expression:liver (human)
mRNA,protein:increased expression:liver (human)

PMID:26538215 PMID:27253414 PMID:29190981 PMID:32015333

RGD:151347600 RGD:151347604 RGD:151347618 RGD:151347622

NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819

TNFSF10

TNF superfamily member 10

ISO

CTD Direct Evidence: therapeutic

PMID:17326159

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

TNFSF9

TNF superfamily member 9

ISO

PMID:17325342

RGD:2317348

NCBI chr19:5,558,021...5,562,901
Ensembl chr19:6,476,941...6,483,352

TNIK

TRAF2 and NCK interacting kinase

disease_progression

ISO

protein:increased phosphorylation:liver, nucleus (human)

PMID:25160513

RGD:151347837

NCBI chr 3:168,067,839...168,466,290
Ensembl chr 3:176,255,547...176,650,795

TONSL

tonsoku like, DNA repair protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 8:141,195,959...141,211,849
Ensembl chr 8:144,185,674...144,201,040

TOP2A

DNA topoisomerase II alpha

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207

tumor protein p53

treatment

ISO

ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA

RGD
OMIM
ClinVar

PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 PMID:1359493 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

TP73

tumor protein p73

treatment
exacerbates

ISO

human cells in a mouse model
protein:decreased phosphorylation:liver (human)
mRNA:increased expression:liver (human)

PMID:14760085 PMID:19664633 PMID:25371988 PMID:27359056 PMID:31429776

RGD:151347579 RGD:151347592 RGD:151347593 RGD:151347594 RGD:151347596

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

TPX2

TPX2 microtubule nucleation factor

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:28,032,663...28,095,223
Ensembl chr20:29,163,312...29,225,860

TRAF7

TNF receptor associated factor 7

treatment

ISO

mRNA:increased expression:liver

PMID:31730901

RGD:151356961

NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031

TRAIP

TRAF interacting protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:49,760,528...49,789,637
Ensembl chr 3:50,996,647...51,025,241

TRIM24

tripartite motif containing 24

ISO

CTD Direct Evidence: marker/mechanism

PMID:18026104

NCBI chr 7:130,420,334...130,547,489
Ensembl chr 7:142,909,009...143,036,526

TRIP13

thyroid hormone receptor interactor 13

ISO

CTD Direct Evidence: marker/mechanism

TROAP

trophinin associated protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr12:39,420,106...39,428,676
Ensembl chr12:40,305,833...40,314,800

TSC1

TSC complex subunit 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:21499249

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

TSC2

TSC complex subunit 2

severity

ISO

protein:decreased expression:liver (human)

PMID:24119083

RGD:21079731

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

TSLP

thymic stromal lymphopoietin

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130

TST

thiosulfate sulfurtransferase

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr22:17,925,215...17,933,919
Ensembl chr22:35,761,073...35,768,992

TTC36

tetratricopeptide repeat domain 36

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928

TTK

TTK protein kinase

disease_progression

ISO

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:liver (human)

PMID:28284560 PMID:35693827

NCBI chr 6:77,887,382...77,925,737
Ensembl chr 6:81,158,143...81,196,478

TTR

transthyretin

disease_progression

ISO

protein:decreased expression:blood serum (human)
protein:increased expression:blood serum (rat)
protein:increased expression:blood serum (human)

PMID:16240287 PMID:28876464 PMID:29534342

RGD:151356736 RGD:151664602 RGD:151665161

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

TYMS

thymidylate synthetase

susceptibility

ISO

DNA:deletion:3'UTR:1494del6(human)
CTD Direct Evidence: marker/mechanism

PMID:17659576 PMID:18019677 PMID:18230555

RGD:14696708

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

UACA

uveal autoantigen with coiled-coil domains and ankyrin repeats

ISO

OMIM:114550

NCBI chr15:49,607,308...49,711,188
Ensembl chr15:68,375,939...68,477,395

UBD

ubiquitin D

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 6:29,359,680...29,364,014
Ensembl chr 6:30,018,444...30,022,814

UBE2C

ubiquitin conjugating enzyme E2 C

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,152,219...42,156,246
Ensembl chr20:43,239,382...43,243,464

UBE2E2

ubiquitin conjugating enzyme E2 E2

ISO

CTD Direct Evidence: marker/mechanism

PMID:27914986

NCBI chr 3:23,121,699...23,502,329
Ensembl chr 3:23,446,158...23,825,277

UBE2T

ubiquitin conjugating enzyme E2 T

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,929,298...177,939,027
Ensembl chr 1:182,227,166...182,236,712

UBR5

ubiquitin protein ligase E3 component n-recognin 5

treatment

ISO

PMID:32087767

RGD:151665344

NCBI chr 8:98,904,557...99,064,121
Ensembl chr 8:101,067,435...101,224,913

UCHL1

ubiquitin C-terminal hydrolase L1

ISO

CTD Direct Evidence: marker/mechanism

PMID:18666234

NCBI chr 4:35,580,755...35,592,314
Ensembl chr 4:41,428,759...41,440,129

UHRF1

ubiquitin like with PHD and ring finger domains 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:3,926,583...3,979,163
Ensembl chr19:4,872,753...4,925,330

UMPS

uridine monophosphate synthetase

ISO

CTD Direct Evidence: marker/mechanism

PMID:18230555

NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029

UROC1

urocanate hydratase 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:123,530,644...123,569,337
Ensembl chr 3:130,846,775...130,882,119

USP2

ubiquitin specific peptidase 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr11:114,196,725...114,223,411
Ensembl chr11:118,124,350...118,150,868

VASN

vasorin

ISO

CTD Direct Evidence: marker/mechanism

PMID:25826090

NCBI chr16:3,298,836...3,310,548
Ensembl chr16:4,475,506...4,477,527

VAV1

vav guanine nucleotide exchange factor 1

ISO

mRNA:decreased expression:liver

PMID:2064726

RGD:2306008

NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112

VCAM1

vascular cell adhesion molecule 1

ISO

CTD Direct Evidence: marker/mechanism

PMID:22922871

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

VDR

vitamin D receptor

susceptibility

ISO

associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human)
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma
associated with alcoholic liver cirrhosis;DNA:haplotype::

PMID:20572305 PMID:24033266 PMID:25541958 PMID:25741868 PMID:28492532

RGD:14402025 RGD:14402026

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

VEGFA

vascular endothelial growth factor A

treatment
susceptibility
disease_progression

ISO

associated with liver cirrhosis;
DNA:SNP: :2578C>A (human)
associated with liver cirrhosis; protein:increased expression:platelet, liver:
protein:increased expression:serum:
protein:increased expression:liver
DNA:polymorphism:promoter:-2578C>A (rs699947)(human)

RGD:11527070 RGD:126848814 RGD:15003194 RGD:15003196 RGD:15003200 RGD:15014783 RGD:15036790 RGD:152177911

PMID:16835748 PMID:18392108 PMID:18544126 PMID:24445728 PMID:25999787 More...

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

VEGFC

vascular endothelial growth factor C

ISO

associated with liver cirrhosis; protein:increased expression:liver:

PMID:18544126

RGD:15003200

NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030

VHL

von Hippel-Lindau tumor suppressor

disease_progression

ISO

PMID:31321740

RGD:155882550

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

VIPR1

vasoactive intestinal peptide receptor 1

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:42,407,591...42,442,565
Ensembl chr 3:42,670,195...42,705,170

VSIG4

V-set and immunoglobulin domain containing 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr X:55,137,938...55,155,569
Ensembl chr X:65,211,313...65,229,332

WDR62

WD repeat domain 62

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:32,973,725...33,030,297
Ensembl chr19:41,721,281...41,777,038

WDR76

WD repeat domain 76

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr15:22,786,956...22,828,496
Ensembl chr15:40,877,721...40,918,519

WNT2

Wnt family member 2

susceptibility

ISO

associated with hepatitis B;DNA:SNP: :rs4730775(human)

PMID:28328801

RGD:14402040

NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862

WRAP53

WD repeat containing antisense to TP53

ISO

RNA:increased expression:liver:

PMID:26551349

RGD:11096781

NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394

XDH

xanthine dehydrogenase

ISO

protein:decreased activity:tumor (rat)

PMID:179860

RGD:5135059

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

XPO1

exportin 1

ameliorates
treatment
exacerbates

ISO

human cell line in a mouse model
mRNA:increased expression:liver (human)

PMID:25030088 PMID:27013579 PMID:31371628

RGD:151665796 RGD:151667433 RGD:151667441

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

XPO5

exportin 5

severity

ISO

DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)

PMID:24676133

RGD:11041737

NCBI chr 6:43,114,408...43,168,113
Ensembl chr 6:44,406,765...44,458,029

XRCC1

X-ray repair cross complementing 1

susceptibility
severity
disease_progression
no_association

ISO

DNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human)
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)
DNA:SNPs:exons:c.1254C>T, c.1517G>C (human)
associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human)
DNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human)
associated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human)
DNA:missense mutation:cds:p.R399Q (rs25487) (human)
DNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human)
DNA:missense mutation:cds:p.R399Q (human)
DNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human)
associated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human)
DNA:missense mutation:cds:c.1804C>A (p.G506A) (human)

RGD:14696702 RGD:14696772 RGD:14696773 RGD:14985238 RGD:14985240 RGD:14985242 RGD:14985243 RGD:15014789 RGD:15014790 RGD:15014791 RGD:15014792 RGD:15036794 RGD:15036797 RGD:150530503 RGD:150530624 RGD:150540332 RGD:150540333

PMID:14519756 PMID:19194663 PMID:22502666 PMID:23454624 PMID:23493666 More...

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

YAP1

Yes1 associated transcriptional regulator

ISO

CTD Direct Evidence: marker/mechanism

PMID:29698666

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

YTHDF2

YTH N6-methyladenosine RNA binding protein F2

ISO

CTD Direct Evidence: marker/mechanism

PMID:28104805

NCBI chr 1:28,007,592...28,041,179
Ensembl chr 1:29,038,831...29,070,533

YWHAZ

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta

severity

ISO

PMID:27811373

RGD:14700875

NCBI chr 8:97,560,251...97,595,117
Ensembl chr 8:99,730,393...99,762,990

ZC3H12D

zinc finger CCCH-type containing 12D

ISO

CTD Direct Evidence: marker/mechanism

PMID:34545456

NCBI chr 6:147,266,039...147,304,289
Ensembl chr 6:151,974,485...151,999,898

ZFHX3

zinc finger homeobox 3

disease_progression
severity

ISO

associated with Chronic Hepatitis B;protein:decreased expression:blood serum (human)
human cell line in a mouse model

PMID:20534899 PMID:32277050

RGD:151361162 RGD:151361169

NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360

ZFP36

ZFP36 ring finger protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr19:36,505,056...36,507,693
Ensembl chr19:45,052,801...45,055,390

ZIC2

Zic family member 2

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:81,151,669...81,156,648

ZIC4

Zic family member 4

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr 3:144,411,069...144,437,019
Ensembl chr 3:151,995,375...152,016,777

ZIC5

Zic family member 5

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr13:81,132,841...81,149,539

ZNF23

zinc finger protein 23

ISO

CTD Direct Evidence: marker/mechanism

PMID:21965783

NCBI chr16:53,548,640...53,563,433
Ensembl chr16:71,284,714...71,299,418

ZWINT

ZW10 interacting kinetochore protein

ISO

CTD Direct Evidence: marker/mechanism

NCBI chr10:52,978,892...52,986,797
Ensembl chr10:55,202,383...55,206,450

hepatocellular clear cell carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

isocitrate dehydrogenase (NADP(+)) 1

disease_progression

ISO

DNA:polymorphism: :rs12478635(human)
DNA:misssense mutation:cds:p.Arg132Cys(human)

PMID:25355558 PMID:28403884

RGD:14974227 RGD:14974228

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

ISO

DNA:polymorphism: :rs11632348(human)

PMID:25355558

RGD:14974228

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

LEP

leptin

ISO

mRNA:increased expression:liver:

PMID:20723213

RGD:14696785

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

LEPR

leptin receptor

ISO

mRNA:increased expression:liver

PMID:20723213

RGD:14696785

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

TERT

telomerase reverse transcriptase

disease_progression

ISO

mRNA:increased expression:liver:

PMID:20723213 PMID:28460432

RGD:14696783 RGD:14696785

Ensembl chr 5:1,300,960...1,338,872

intrahepatic cholangiocarcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC regulator of WNT signaling pathway

ISO

ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma

PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

AT-rich interaction domain 1A

disease_progression
exacerbates

ISO

mRNA,protein:decreased expression:intrahepatic bile duct (human)

PMID:27433094 PMID:30849962 PMID:31665232

RGD:126775257 RGD:126781775 RGD:14974231

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

BAP1

BRCA1 associated deubiquitinase 1

disease_progression

ISO

PMID:27864835

RGD:150340628

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

BECN1

beclin 1

disease_progression

ISO

PMID:30849962

RGD:14974231

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

B-Raf proto-oncogene, serine/threonine kinase

severity

ISO

DNA:missense mutation:cds:p.V600E (human)

PMID:24139215

RGD:14398746

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

FAS

Fas cell surface death receptor

disease_progression

ISO

PMID:11003620

RGD:14700701

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

FASLG

Fas ligand

severity

ISO

PMID:11003620

RGD:14700701

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

FOXP3

forkhead box P3

ISO

DNA:hypomethylation:liver

PMID:24291052

RGD:38599002

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

HSP90AA1

heat shock protein 90 alpha family class A member 1

disease_progression

ISO

protein:increased expression:liver (human)

PMID:24796583

RGD:152177907

NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723

HSP90AB1

heat shock protein 90 alpha family class B member 1

disease_progression

ISO

protein:increased expression:liver (human)

PMID:24796583

RGD:152177907

NCBI chr 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872

isocitrate dehydrogenase (NADP(+)) 1

no_association

ISO

DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)

PMID:26245674

RGD:14974229

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

ISO

DNA:mutations: :
mRNA:decreased expression:liver (mouse)

PMID:22824796 PMID:32463951

RGD:149735894 RGD:14985256

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

KDM5C

lysine demethylase 5C

exacerbates

ISO

protein:decreased expression:bile duct (human)

PMID:32714863

RGD:151361175

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

KRAS proto-oncogene, GTPase

disease_progression

ISO

DNA:mutations::

RGD
MouseDO

PMID:24139215

RGD:14398746

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

LCN2

lipocalin 2

treatment

ISO

Protein:increased expression:bile duct

PMID:24939880

RGD:126790491

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

LRP1B

LDL receptor related protein 1B

exacerbates

ISO

DNA:mutations:multiple: (human)

PMID:33014052

RGD:150429786

NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243

MAGI1

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

ISO

protein:increased expression:intrahepatic bile duct (human)

PMID:30377796

RGD:152998946

NCBI chr 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358

PBRM1

polybromo 1

disease_progression

ISO

protein:increased expression:intrahepatic bile duct (human)

PMID:27864835 PMID:30377796

RGD:150340628 RGD:152998946

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

PTEN

phosphatase and tensin homolog

disease_progression

ISO

protein:decreased expression:liver (human)

PMID:24796583

RGD:152177907

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

ring finger protein 43

exacerbates

ISO

mRNA, protein:decreased expression:liver, bile duct epithelium (human)

PMID:26980022

RGD:151361125

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

S100B

S100 calcium binding protein B

disease_progression

ISO

protein:increased expression:intrahepatic bile duct (human)

PMID:30377796

RGD:152998946

NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953

SMAD family member 4

disease_progression

ISO

mRNA,protein:decreased expression:intrahepatic bile duct

PMID:16917866 PMID:23981608

RGD:18936999 RGD:21066336

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

TEP1

telomerase associated protein 1

ISO

mRNA:increased expression:hepatocyte,biliary epithelium.

PMID:10498642

RGD:152977753

NCBI chr14:1,240,370...1,285,787
Ensembl chr14:19,293,452...19,332,960

Klatskin's tumor

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

APC regulator of WNT signaling pathway

ISO

ClinVar Annotator: match by term: Klatskin tumor

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

AT-rich interaction domain 1A

disease_progression

ISO

DNA:deletions

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

GATA6

GATA binding protein 6

sexual_dimorphism

ISO

DNA:mutations

NCBI chr18:15,411,764...15,444,402

KMT2C

lysine methyltransferase 2C

onset

ISO

DNA:mutations

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

KRAS proto-oncogene, GTPase

disease_progression

ISO

DNA:mutations

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

PREX2

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

sexual_dimorphism

ISO

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

liver cancer

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCA1

ATP binding cassette subfamily A member 1

severity

ISO

mRNA:decreased expression:liver (mouse)

PMID:30580964

RGD:24922199

NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188

ABCB11

ATP binding cassette subfamily B member 11

ISO

mRNA:decreased expression:liver

PMID:29651702

RGD:14402411

NCBI chr2B:56,199,434...56,311,773
Ensembl chr2B:173,664,518...173,776,379

ACOT12

acyl-CoA thioesterase 12

ISO

PMID:2566591

RGD:13831129

NCBI chr 5:33,885,302...33,950,075
Ensembl chr 5:34,196,504...34,260,254

ADAM28

ADAM metallopeptidase domain 28

ISO

mRNA:increased expression:liver

PMID:32782619

RGD:153297784

NCBI chr 8:23,549,892...23,623,859
Ensembl chr 8:20,474,029...20,540,692

ALDH2

aldehyde dehydrogenase 2 family member

ISO

DNA:missense mutation:cds:p.E487K (mouse)

PMID:26150517

RGD:14696779

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

ATM serine/threonine kinase

ameliorates

ISO

PMID:19919837

RGD:150340702

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

CCND1

cyclin D1

disease_progression

ISO

protein:increased expression:liver (rat)

PMID:11797828

RGD:151356973

NCBI chr11:64,737,006...64,750,353

CCND2

cyclin D2

disease_progression

ISO

PMID:30308939

RGD:151665105

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

CCNE1

cyclin E1

disease_progression

ISO

protein:increased expression:liver (rat)

PMID:11797828

RGD:151356973

NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295

CDH1

cadherin 1

ISO

mRNA:increased expression:liver (mouse)

PMID:25319454

RGD:152995431

NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488

CHUK

component of inhibitor of nuclear factor kappa B kinase complex

ISO

human cells in mouse model

PMID:27367027

RGD:153305911

NCBI chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918

GPT

glutamic--pyruvic transaminase

treatment

ISO

PMID:22922605

RGD:14975251

Ensembl chr 8:144,259,991...144,263,737

GPT2

glutamic--pyruvic transaminase 2

treatment

ISO

PMID:22922605

RGD:14975251

NCBI chr16:27,150,159...27,197,006
Ensembl chr16:46,040,439...46,086,840

HRAS

HRas proto-oncogene, GTPase

ISO

DNA:missense mutations:cds:p.Q61L, p.Q61K, p.Q61R (mouse)

PMID:9142214

RGD:14688053

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

IKBKB

inhibitor of nuclear factor kappa B kinase subunit beta

ISO

human cells in mouse model

PMID:27367027

RGD:153305911

NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ISO

human cells in mouse model

PMID:27367027

RGD:153305911

NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092

interleukin 10

ISO

PMID:30610790

RGD:14975253

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

JAG1

jagged canonical Notch ligand 1

treatment

ISO

miRNA:decreased expression:liver

PMID:25311838

RGD:14694834

NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383

JAK2

Janus kinase 2

severity

ISO

human cell line in a mouse model
mRNA:increased expression:liver,serum (human)

PMID:27788478

RGD:18182929

NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626

KRT18

keratin 18

severity

ISO

associated with fatty liver disease

PMID:27689336

RGD:18337485

NCBI chr12:35,807,660...35,811,691
Ensembl chr12:36,587,149...36,591,196

LOC100976982

solute carrier organic anion transporter family member 1B3

ISO

mRNA:decreased expression:liver (mouse)

PMID:25319454

RGD:152995431

NCBI chr12:65,386,042...65,492,240

MAPK14

mitogen-activated protein kinase 14

exacerbates

ISO

PMID:17468757

RGD:151665350

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

PCNA

proliferating cell nuclear antigen

disease_progression

ISO

protein:increased expression:liver (rat)

PMID:11797828

RGD:151356973

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

susceptibility

ISO

PMID:20583210

RGD:14402407

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

SETD2

SET domain containing 2, histone lysine methyltransferase

ISO

protein:decreased expression:liver (human)

PMID:26172293

RGD:11530741

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

SLCO1B1

solute carrier organic anion transporter family member 1B1

disease_progression

ISO

mRNA:decreased expression:liver (human)

PMID:21625523

RGD:152995425

NCBI chr12:65,052,177...65,169,075
Ensembl chr12:67,656,212...67,771,073

SLCO2B1

solute carrier organic anion transporter family member 2B1

disease_progression

ISO

mRNA:decreased expression:liver (human)

PMID:21625523

RGD:152995425

NCBI chr11:70,211,124...70,266,513
Ensembl chr11:73,515,433...73,570,410

XRCC1

X-ray repair cross complementing 1

severity

ISO

mRNA:increased expression:liver (human)

PMID:30088263

RGD:15036795

NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520

liver carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP7B

ATPase copper transporting beta

ISO

PMID:11509115

RGD:1302456

NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

discoidin domain receptor tyrosine kinase 2

ameliorates

ISO

DNA:deletion:exons:

PMID:24293323

RGD:150429711

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

HMBS

hydroxymethylbilane synthase

sexual_dimorphism

ISO

Protein:increased activity:liver (rat)

PMID:1781034

RGD:25440495

NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757

HRAS

HRas proto-oncogene, GTPase

ISO

DNA:hypomethylation

PMID:3345576

RGD:14694848

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

interleukin 10

ISO

DNA:SNP:promoter:-592C>A (rs1800872) (human)

PMID:28763918

RGD:14975157

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

NRAS

NRAS proto-oncogene, GTPase

ISO

mRNA:increased expression:liver (human)

PMID:3018923

RGD:14975106

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

PDCD10

programmed cell death 10

ISO

protein:increased expression:liver (human)

PMID:32186778

RGD:401827111

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

Liver Metastasis

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACE

angiotensin I converting enzyme

ISO

associated with colorectal cancer;mRNA:increased expression:liver (mouse)

PMID:20380732

RGD:25671446

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

B-Raf proto-oncogene, serine/threonine kinase

severity

ISO

associated with colorectal cancer;DNA:missense mutation:cds:p.V600E (human)
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)

PMID:22331825 PMID:23010994 PMID:26775732 PMID:27737491 PMID:28787433

RGD:11554843 RGD:14696791 RGD:15039394 RGD:18337264 RGD:18337265

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

CCL2

C-C motif chemokine ligand 2

disease_progression

ISO

associated with colorectal cancer

PMID:27058904

RGD:14995463

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

CCL5

C-C motif chemokine ligand 5

treatment

ISO

associated with Animal Mammary Neoplasms;

PMID:15692764

RGD:14995455

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

CCND2

cyclin D2

ISO

associated with colorectal cancer;protein:increased expression:colorectum

PMID:19508551

RGD:151665111

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

CCNG1

cyclin G1

treatment

ISO

human cells in mouse model

PMID:10910035

RGD:151356987

NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728

CD44

CD44 molecule (IN blood group)

ISO

associated with Breast Neoplasm;protein:increased expression:liver

PMID:17991717

RGD:2289349

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

CHD4

chromodomain helicase DNA binding protein 4

ameliorates

ISO

associated with human colon adenocarcinoma cells in a mouse model

PMID:28486105

RGD:153323299

NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076

CXCL10

C-X-C motif chemokine ligand 10

treatment

ISO

associated with colon carcinoma;

PMID:30381616

RGD:27095891

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

CXCL12

C-X-C motif chemokine ligand 12

ameliorates

ISO

associated with colorectal cancer; human cells in mouse model

PMID:30789971

RGD:151893289

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

CXCL8

C-X-C motif chemokine ligand 8

ISO

associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model

PMID:29679563

RGD:26884358

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

CXCR4

C-X-C motif chemokine receptor 4

ameliorates

ISO

associated with colorectal cancer; human cells in mouse model
human cells in mouse model; associated with colorectal cancer

PMID:29436696 PMID:30789971

RGD:151893289 RGD:152023643

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

DAXX

death domain associated protein

exacerbates

ISO

associated with colon cancer; mRNA:decreased expression:liver (human)
associated with neuroendocrine tumor;DNA:mutations:CDS:multiple (human)
associated with pancreatic endocrine carcinoma;DNA:mutations:CDS:multiple (human)

PMID:30339629 PMID:30342802 PMID:31942198

RGD:152025194 RGD:152025199 RGD:152025203

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

DDR1

discoidin domain receptor tyrosine kinase 1

treatment

ISO

mRNA:increased expression:liver (mouse)
human cells in mouse model; nilotinib

PMID:29438985 PMID:30666650 PMID:33110221

RGD:151347537 RGD:151347685 RGD:151347840

NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455

discoidin domain receptor tyrosine kinase 2

ameliorates

ISO

associated with colon carcinoma
associated with melanoma;

PMID:21701781 PMID:22071959

RGD:150429701 RGD:150429713

NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766

DOCK6

dedicator of cytokinesis 6

ameliorates

ISO

associated with stomach cancer;

PMID:29587866

RGD:155791564

NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220

FBXW7

F-box and WD repeat domain containing 7

disease_progression

ISO

associated with colorectal cancer;

PMID:28846828

RGD:21408566

NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351

FGFR1

fibroblast growth factor receptor 1

ISO

associated with colorectal cancer;mRNA:increased expression:colorectal mucosa:

PMID:19082464

RGD:25330357

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

FOSL2

FOS like 2, AP-1 transcription factor subunit

ISO

human cells in mouse model

PMID:30114390

RGD:153344554

NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397

GPC3

glypican 3

ISO

protein:increased expression:blood serum (human)

PMID:28801286

RGD:243065135

NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441

HMBS

hydroxymethylbilane synthase

ISO

associated with colon adenocarcinoma;protein:decreased activity:liver(rat)

PMID:1386052

RGD:25440496

NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757

IL2

interleukin 2

treatment

ISO

associated with Colorectal Neoplasms, Carcinoma, Hepatocellular;
associated with colon carcinoma

PMID:9354462 PMID:11591892

RGD:14928215 RGD:8663446

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

IQSEC1

IQ motif and Sec7 domain ArfGEF 1

ISO

human cells in mouse model

PMID:22662237

RGD:153344589

NCBI chr 3:12,820,552...13,202,925
Ensembl chr 3:13,167,299...13,235,285

MAP2K7

mitogen-activated protein kinase kinase 7

ISO

associated with colon cancer;protein:increased expression:colon (human)

PMID:24533778

RGD:155259116

NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512

MPL

MPL proto-oncogene, thrombopoietin receptor

exacerbates
severity

ISO

associated with pancreatic cancer; protein:increased expression:liver, pancreas (human)
associated with pancreatic ductal adenocarcinoma; human cells in mouse model
associated with colorectal carcinoma;protein:increased expression:colorectum (human)

PMID:23747337 PMID:30770989

RGD:126925751 RGD:126925752

NCBI chr 1:42,639,191...42,654,738
Ensembl chr 1:44,018,395...44,034,492

NRAS

NRAS proto-oncogene, GTPase

susceptibility

ISO

associated with melanoma;DNA:mutations: exons (human)
associated with colorectal cancer;DNA:mutations:exons (human)
human gene in a mouse model;DNA:missense mutations:cds:p.G12V, p.Q61K (human)

PMID:26799184 PMID:28011498 PMID:28787433

RGD:14696774 RGD:14696791 RGD:14696792

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

PTPRB

protein tyrosine phosphatase receptor type B

treatment

ISO

mouse tumor cells in mouse recipient

PMID:31348125

RGD:151660353

NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308

RICTOR

RPTOR independent companion of MTOR complex 2

disease_progression

ISO

mRNA:increased expression:liver (human)

PMID:30404068

RGD:152995463

NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830

ring finger protein 43

ISO

associated with colorectal adenocarcinoma;mRNA:increased expression:liver (human)

PMID:28789449

RGD:151361221

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

SLC3A2

solute carrier family 3 member 2

severity

ISO

associated with colon adenocarcinoma

PMID:11745822

RGD:151361130

NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579

solute carrier family 7 member 5

severity

ISO

associated with colon cancer
associated with colon adenocarcinoma

PMID:11718450 PMID:11745822

RGD:151361129 RGD:151361130

NCBI chr16:68,512,407...68,552,763

SMAD family member 4

treatment

ISO

associated with colorectal carcinoma; DNA:mutations: :
associated with colorectal carcinoma;protein:decreased expression:colorectum:

PMID:17390050 PMID:29551247

RGD:18937000 RGD:21066338

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

SOX30

SRY-box transcription factor 30

ameliorates

ISO

PMID:29739711

RGD:151660333

NCBI chr 5:153,022,109...153,067,734
Ensembl chr 5:159,640,126...159,737,776

SRC

SRC proto-oncogene, non-receptor tyrosine kinase

disease_progression

ISO

associated with colon cancer;protein:increased activity:colon

PMID:7678609

RGD:150521542

NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634

VEGFA

vascular endothelial growth factor A

ISO

associated with colorectal carcinoma;mRNA,protein:increased expression:liver:

PMID:22156924

RGD:15014782

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

mixed fibrolamellar hepatocellular carcinoma

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

PRKACA

protein kinase cAMP-activated catalytic subunit alpha

susceptibility

ISO