RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | hepatobiliary system cancer |
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Accession: | DOID:0080355
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browse the term
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Definition: | A gastrointestinal system cancer that is located_in the hepatobiliary system. (DO) |
Synonyms: | xref: | EFO:0008550 |
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Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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Ifitm1 |
interferon induced transmembrane protein 1 |
disease_progression |
ISO |
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RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr 1:205,496,757...205,498,796
Ensembl chr 1:196,067,963...196,069,169
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Ephx1 |
epoxide hydrolase 1 |
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IEP |
associated with estrogen excess;protein:increased activity;liver (rat) |
RGD |
PMID:6133380 |
RGD:152998935 |
NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235
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Ggt1 |
gamma-glutamyltransferase 1 |
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IEP |
associated with estrogen excess;protein:increased activity;liver (rat) |
RGD |
PMID:6133380 |
RGD:152998935 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24131658 |
RGD:151361287 |
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Apob |
apolipoprotein B |
susceptibility |
ISO |
DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:SNP:intron:rs440446 (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 PMID:28492532 More...
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NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Mir31 |
microRNA 31 |
exacerbates |
ISO |
RNA:increased expression:bile duct (human) |
RGD |
PMID:29860474 |
RGD:152998990 |
NCBI chr 5:108,714,849...108,714,954
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Mlh1 |
mutL homolog 1 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:33357406 |
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NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823 |
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 PMID:27782177 More...
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NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
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Pold1 |
DNA polymerase delta 1, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:95,025,499...95,036,465
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Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Bile duct cancer |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Tjp1 |
tight junction protein 1 |
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ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19184677 |
RGD:2325030 |
NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:118,849,838...119,094,432
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Msln |
mesothelin |
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ISO |
protein:increased expression:bile duct |
RGD |
PMID:17276942 |
RGD:2326059 |
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:24890221 |
RGD:151361210 |
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Apob |
apolipoprotein B |
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ISO |
protein:increased expression:serum |
RGD |
PMID:18076041 |
RGD:2325763 |
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
DNA:polymorphism:exon:rs2606345 (human) |
RGD |
PMID:19168589 |
RGD:2317210 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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Ppard |
peroxisome proliferator-activated receptor delta |
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ISO |
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RGD |
PMID:18497548 |
RGD:2324871 |
NCBI chr20:6,300,527...6,365,707
Ensembl chr20:6,298,785...6,363,968
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Pediatric hepatocellular carcinoma |
ClinVar |
PMID:9927037 |
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NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Abcc2 |
ATP binding cassette subfamily C member 2 |
susceptibility |
ISO |
DNA:polymorphism:exon:c.3972C>T (human) |
RGD |
PMID:19451719 |
RGD:2317508 |
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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Adrb2 |
adrenoceptor beta 2 |
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ISO |
protein:decreased expression:liver |
RGD |
PMID:16292515 |
RGD:2325640 |
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
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Alb |
albumin |
disease_progression |
ISO |
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RGD |
PMID:10776430 PMID:20431764 PMID:17545000 |
RGD:2325682, RGD:2325679, RGD:2325680 |
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
protein:increased expression:bile duct |
RGD |
PMID:18507031 |
RGD:2317521 |
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Anxa2 |
annexin A2 |
disease_progression |
ISO |
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RGD |
PMID:20493868 |
RGD:2325728 |
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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Anxa8 |
annexin A8 |
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ISO |
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RGD |
PMID:19376120 |
RGD:2325733 |
NCBI chr16:9,403,267...9,418,317
Ensembl chr16:9,397,113...9,412,043
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
DNA:hypermethylation:promoter DNA:loss of heterozygosity |
RGD |
PMID:15467712 PMID:10212000 |
RGD:2317198, RGD:2317205 |
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Apoa1 |
apolipoprotein A1 |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:19486127 |
RGD:2325756 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Asph |
aspartate-beta-hydroxylase |
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ISO |
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RGD |
PMID:21898484 |
RGD:6902945 |
NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:22,603,486...22,813,876
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Atg101 |
autophagy related 101 |
disease_progression |
ISO |
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RGD |
PMID:35592424 |
RGD:153350091 |
NCBI chr 7:132,398,477...132,407,643
Ensembl chr 7:132,398,483...132,407,633
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Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 PMID:25231345 |
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NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Birc6 |
baculoviral IAP repeat-containing 6 |
ameliorates |
ISO |
mRNA:increased expression:bile duct (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:12692057 |
RGD:11073239 |
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
onset |
ISO |
protein:decreased expression:liver |
RGD |
PMID:15619210 |
RGD:2317417 |
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cxcr1 |
C-X-C motif chemokine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chr 9:83,216,040...83,220,225
Ensembl chr 9:75,766,770...75,771,084
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Cycs |
cytochrome c, somatic |
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ISO |
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RGD |
PMID:19788692 |
RGD:2317615 |
NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
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ISO |
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human) |
RGD |
PMID:23375797 |
RGD:151361187 |
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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Egf |
epidermal growth factor |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 PMID:25741868 PMID:28492532 |
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NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064
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Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Cholangiocarcinoma |
CTD ClinVar |
PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Epo |
erythropoietin |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:23052842 |
RGD:10400912 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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Epor |
erythropoietin receptor |
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IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:23052842 |
RGD:10400912 |
NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257
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Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 |
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NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression no_association |
ISO |
DNA:SNP: :g.148505302C>T (rs887569) (human) DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human) |
RGD |
PMID:24179546 PMID:24179546 |
RGD:126779604, RGD:126779604 |
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Faslg |
Fas ligand |
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ISO |
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RGD |
PMID:11029528 |
RGD:2317746 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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Fgf2 |
fibroblast growth factor 2 |
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ISO |
protein:increased expression:bile |
RGD |
PMID:11478488 |
RGD:2317765 |
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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Fscn1 |
fascin actin-bundling protein 1 |
disease_progression |
ISO |
protein:increased expression:bile ducts |
RGD |
PMID:19721413 |
RGD:2317780 |
NCBI chr12:16,710,601...16,723,734
Ensembl chr12:11,597,048...11,610,211
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Gnas |
GNAS complex locus |
disease_progression |
ISO |
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22561520 PMID:17356712 |
RGD:1601377 |
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
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RGD |
PMID:24049014 |
RGD:14700980 |
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1 |
glutathione S-transferase pi 1 |
treatment |
ISO |
DNA:hypermethylation:promoter human cell line in a mouse model |
RGD |
PMID:15467712 PMID:12805482 |
RGD:2317198, RGD:14401711 |
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Hdac6 |
histone deacetylase 6 |
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ISO |
protein:increased expression:liver: |
RGD |
PMID:23370327 |
RGD:9681560 |
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:14,551,044...14,572,441
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Hgf |
hepatocyte growth factor |
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IEP ISO |
mRNA, protein:increased expression: : protein:increased expression:serum |
RGD |
PMID:10827151 PMID:16974053 |
RGD:2317925, RGD:2317909 |
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868 |
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NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Il10 |
interleukin 10 |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
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NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il19 |
interleukin 19 |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
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NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473
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Il1b |
interleukin 1 beta |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
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NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1r2 |
interleukin 1 receptor type 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:42,384,433...42,424,725
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Il4r |
interleukin 4 receptor |
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ISO |
mRNA:increased expression:bile duct |
RGD |
PMID:18798553 |
RGD:2317263 |
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
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Il6 |
interleukin 6 |
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ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17621267 PMID:17623760 PMID:18550579 PMID:15011822 PMID:28925763 More...
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RGD:2317167, RGD:14975292 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Ins2 |
insulin 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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Kcnd2 |
potassium voltage-gated channel subfamily D member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34418280 |
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NCBI chr 4:50,741,595...51,243,540
Ensembl chr 4:49,776,246...50,277,728
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Kmt2c |
lysine methyltransferase 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8968066 PMID:22561520 |
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NCBI chr 4:179,916,255...179,949,613
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G |
Krt7 |
keratin 7 |
|
ISO |
|
RGD |
PMID:18393293 |
RGD:2317308 |
NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:132,528,895...132,545,052
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G |
Mdm2 |
MDM2 proto-oncogene |
disease_progression |
ISO |
protein:increased expression:intrahepatic bile duct (human) |
RGD |
PMID:15619210 |
RGD:2317417 |
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
disease_progression |
IEP ISO |
protein:increased expression:liver, biliary epithelium (rat) protein:increased phosphorylation:liver, carcinoma (human) |
RGD |
PMID:14656942 PMID:16818635 |
RGD:2317601, RGD:2317578 |
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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G |
Mfsd4a |
major facilitator superfamily domain containing 4A |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:17550320 |
RGD:2317632 |
NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:serum |
RGD |
PMID:30653586 |
RGD:21081530 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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G |
Mir192 |
microRNA 192 |
|
ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr 1:212,994,209...212,994,318
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir21 |
microRNA 21 |
|
ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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G |
Mir23b |
microRNA 23b |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34418280 |
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NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763
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G |
Mir494 |
microRNA 494 |
severity exacerbates |
ISO |
|
RGD |
PMID:30314946 PMID:30314946 |
RGD:156420141, RGD:156420141 |
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793
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G |
Mki67 |
marker of proliferation Ki-67 |
disease_progression |
ISO |
|
RGD |
PMID:12903495 |
RGD:2317705 |
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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G |
Mmp2 |
matrix metallopeptidase 2 |
disease_progression |
IEP ISO |
protein:increased expression:bile duct |
RGD |
PMID:15213623 PMID:19629755 |
RGD:2324667, RGD:2325769 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
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ISO IEP |
mRNA:increased expression:bile duct protein:increased expression:bile duct |
RGD |
PMID:16463672 PMID:15213623 PMID:15213623 |
RGD:2325856, RGD:2324667, RGD:2324667 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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G |
Msln |
mesothelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14576474 |
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NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:polymorphism (human) |
RGD |
PMID:17201138 |
RGD:2317119 |
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G |
Muc1 |
mucin 1, cell surface associated |
disease_progression |
ISO IEP |
protein:increased secretion:bile protein:increased expression:serum protein:increased expression:bile duct: mRNA:increased expression:bile duct |
RGD |
PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217 |
RGD:2324622, RGD:2324664, RGD:2324667, RGD:2324638, RGD:2317986 |
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733
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G |
Muc16 |
mucin 16, cell surface associated |
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ISO |
associated with Opisthorchiasis;protein:increased expression:serum |
RGD |
PMID:1653472 |
RGD:2325142 |
NCBI chr 8:24,440,840...24,644,494
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G |
Muc17 |
mucin 17, cell surface associated |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr12:25,139,076...25,175,249
Ensembl chr12:19,527,321...19,538,522
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:196,799,517...196,831,756
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G |
Muc3a |
mucin 3A, cell surface associated |
|
ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr12:19,450,679...19,454,753
Ensembl chr12:19,446,094...19,460,522
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G |
Muc4 |
mucin 4, cell surface associated |
disease_progression |
ISO IEP |
protein:increased expression:bile duct |
RGD |
PMID:14752841 PMID:19082442 |
RGD:2324944, RGD:2303602 |
NCBI chr11:68,008,245...68,053,242
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
disease_progression |
ISO |
protein:increased expression:serum mRNA:increased expression:bile duct |
RGD |
PMID:14508831 PMID:11680592 |
RGD:2324990, RGD:2324948 |
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
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ISO |
mRNA:decreased expression:bile duct |
RGD |
PMID:11680592 |
RGD:2324948 |
NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:196,916,825...196,949,250
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
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ISO |
protein:increased expression: : |
RGD |
PMID:10209489 |
RGD:2325167 |
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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G |
Nat2 |
N-acetyltransferase 2 |
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ISO |
DNA:polymorphisms (human) |
RGD |
PMID:15901993 |
RGD:2317172 |
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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G |
Ncam1 |
neural cell adhesion molecule 1 |
|
ISO |
associated with hepatitis |
RGD |
PMID:12031086 |
RGD:2326079 |
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16818635 PMID:16094703 |
RGD:2325280 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Notch1 |
notch receptor 1 |
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ISO |
protein:increased expression:cholangiocyte |
RGD |
PMID:15887117 |
RGD:2325330 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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G |
Nr1h4 |
nuclear receptor subfamily 1, group H, member 4 |
disease_progression |
IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:24255171 |
RGD:15090822 |
NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:23,846,122...23,942,047
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
disease_progression |
ISO |
DNA:loss of heterozygosity (human) |
RGD |
PMID:11866974 PMID:11260864 |
RGD:2317134, RGD:2317136 |
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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G |
Osbp2 |
oxysterol binding protein 2 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:21763455 |
RGD:41404644 |
NCBI chr14:82,808,693...82,970,386
Ensembl chr14:78,585,089...78,746,786
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G |
Osbpl7 |
oxysterol binding protein-like 7 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:21763455 |
RGD:41404644 |
NCBI chr10:82,035,995...82,053,566
Ensembl chr10:82,036,042...82,053,557
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G |
Panx2 |
pannexin 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 7:122,018,937...122,032,009
Ensembl chr 7:120,139,294...120,152,361
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G |
Pawr |
pro-apoptotic WT1 regulator |
|
ISO |
mRNA,protein:decreased expression:cholangiocyte: |
RGD |
PMID:20724592 |
RGD:9835357 |
NCBI chr 7:45,531,480...45,611,492
Ensembl chr 7:43,645,084...43,725,028
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G |
Pbrm1 |
polybromo 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24185509 |
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NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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G |
Peg3 |
paternally expressed 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
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G |
Pes1 |
pescadillo ribosomal biogenesis factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34845814 |
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NCBI chr14:83,074,346...83,090,726
Ensembl chr14:78,850,709...78,867,134
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G |
Pir |
pirin |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr X:33,740,428...33,851,049
Ensembl chr X:30,108,538...30,219,218
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G |
Ppia |
peptidylprolyl isomerase A |
ameliorates |
ISO |
human cell line and construct in a mouse model |
RGD |
PMID:21871105 |
RGD:150429623 |
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:81,275,091...81,299,601
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G |
Ppp3ca |
protein phosphatase 3 catalytic subunit alpha |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:225,165,766...225,438,974
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G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
sexual_dimorphism |
ISO |
DNA:substitutions, insertion/deletions: (human) |
RGD |
PMID:28000796 |
RGD:151665188 |
NCBI chr 5:12,720,683...13,036,077
Ensembl chr 5:7,942,573...8,253,068
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430
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G |
Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26258846 |
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NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198
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G |
Prrg4 |
proline rich and Gla domain 4 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 3:111,669,508...111,698,205
Ensembl chr 3:91,214,653...91,243,273
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G |
Prss2 |
protease, serine, 2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:8621252 |
RGD:2324908 |
NCBI chr 4:70,278,304...70,283,385
Ensembl chr 4:70,278,304...70,283,385
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G |
Prss56 |
serine protease 56 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:27022031 PMID:23376645 |
RGD:12802341 |
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:bile duct ClinVar Annotator: match by term: Cholangiocarcinoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16818635 PMID:19621664 |
RGD:2317180 |
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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G |
Rassf8 |
Ras association domain family member 8 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 4:180,447,050...180,528,792
Ensembl chr 4:178,719,992...178,796,690
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G |
Reg1a |
regenerating family member 1 alpha |
susceptibility |
ISO |
mRNA, protein:increased expression:liver (human) |
RGD |
PMID:11343228 |
RGD:10044031 |
NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570
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G |
Rnf39 |
ring finger protein 39 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr20:1,610,027...1,615,516
Ensembl chr20:1,604,794...1,610,283
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G |
Rnf43 |
ring finger protein 43 |
exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human) |
CTD RGD |
PMID:22561520 PMID:22561520 |
RGD:151361227 |
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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G |
Robo2 |
roundabout guidance receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
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NCBI chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536
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G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
protein:decreased expression:bile duct |
RGD |
PMID:19827872 |
RGD:2324955 |
NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156
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G |
Slc4a4 |
solute carrier family 4 member 4 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr14:19,125,394...19,577,379
Ensembl chr14:18,845,159...19,272,883
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G |
Slc5a5 |
solute carrier family 5 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17408651 |
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NCBI chr16:18,580,705...18,590,692
Ensembl chr16:18,546,709...18,556,697
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression treatment |
ISO |
|
RGD |
PMID:25475870 PMID:28347255 PMID:24131658 |
RGD:151361214, RGD:151361294, RGD:151361287 |
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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G |
Smad4 |
SMAD family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
Socs3 |
suppressor of cytokine signaling 3 |
severity |
ISO |
protein:decreased expression:bile duct (human) |
RGD |
PMID:26485275 |
RGD:11250478 |
NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,193,537...103,197,787
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G |
Sox17 |
SRY-box transcription factor 17 |
severity |
IEP |
|
RGD |
PMID:20816680 |
RGD:4889598 |
NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:15,016,731...15,022,228
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G |
Sox2 |
SRY-box transcription factor 2 |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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G |
Tgfb1 |
transforming growth factor, beta 1 |
disease_progression |
ISO IEP |
protein:increased expression:pancreas |
RGD |
PMID:16083599 PMID:12632524 |
RGD:2325020, RGD:1299231 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
IEP |
mRNA:increased expression:bile duct |
RGD |
PMID:12632524 |
RGD:1299231 |
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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G |
Thbs1 |
thrombospondin 1 |
disease_progression |
ISO |
DNA:hypermethylation (human) |
RGD |
PMID:11927969 PMID:12213730 PMID:16465407 |
RGD:2325027, RGD:2325026, RGD:2325024 |
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
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G |
Tnc |
tenascin C |
severity |
IEP |
|
RGD |
PMID:20816680 |
RGD:4889598 |
NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnfaip3 |
TNF alpha induced protein 3 |
severity |
ISO |
protein:increased expression:bile duct (human) |
RGD |
PMID:26485275 |
RGD:11250478 |
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16818635 PMID:22561520 |
|
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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G |
Ttr |
transthyretin |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:18275060 |
RGD:151660506 |
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
|
ISO |
|
RGD |
PMID:9230212 |
RGD:2325161 |
NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
ClinVar Annotator: match by term: Cholangiocarcinoma |
ClinVar |
PMID:18550579 |
|
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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G |
Wdhd1 |
WD repeat and HMG-box DNA binding protein 1 |
ameliorates |
ISO |
|
RGD |
PMID:30314946 |
RGD:156420141 |
NCBI chr15:22,957,492...23,002,820
Ensembl chr15:20,489,291...20,523,096
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G |
Wnt9a |
Wnt family member 9A |
disease_progression |
ISO |
mRNA:altered expression:liver (human) |
RGD |
PMID:31687280 |
RGD:152998978 |
NCBI chr10:44,593,691...44,620,682
Ensembl chr10:44,094,140...44,121,133
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|
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
disease_progression |
ISO |
|
RGD |
PMID:25536104 |
RGD:150340631 |
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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G |
Pbrm1 |
polybromo 1 |
disease_progression |
ISO |
|
RGD |
PMID:25536104 |
RGD:150340631 |
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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G |
Rac1 |
Rac family small GTPase 1 |
|
ISO |
protein:increased expression:mucosa (human) |
RGD |
PMID:21537609 |
RGD:153350126 |
NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251
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|
G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
|
RGD |
PMID:24890221 |
RGD:151361210 |
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Extrahepatic bile duct cancer |
ClinVar |
PMID:25741868 |
|
NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
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G |
Pold1 |
DNA polymerase delta 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Extrahepatic bile duct cancer |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:95,025,499...95,036,465
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|
G |
Xpo1 |
exportin 1 |
disease_progression |
ISO |
protein:increased expression:extrahepatic bile duct (human) |
RGD |
PMID:27279267 |
RGD:151665800 |
NCBI chr14:101,434,450...101,476,705
Ensembl chr14:97,233,270...97,275,498
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|
G |
Car12 |
carbonic anhydrase 12 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:28304380 |
RGD:153352326 |
NCBI chr 8:76,169,723...76,225,465
Ensembl chr 8:67,274,359...67,330,440
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
protein:increased tyrosine phosphorylation:exon: |
RGD |
PMID:19101982 |
RGD:14402052 |
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:24925055 |
RGD:11055933 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
|
ISO |
mRNA,protein:increased expression:liver (human) |
RGD |
PMID:27027723 |
RGD:151347845 |
NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
DNA:polymorphism: :rs4646994 (human) |
RGD |
PMID:20438364 |
RGD:2325207 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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|
G |
Cdk1 |
cyclin-dependent kinase 1 |
|
ISO |
protein:increased expression:gallbladder |
RGD |
PMID:15017593 |
RGD:2722465 |
NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408
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|
G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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|
G |
Ifitm1 |
interferon induced transmembrane protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr 1:205,496,757...205,498,796
Ensembl chr 1:196,067,963...196,069,169
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|
|
G |
Apc |
APC regulator of WNT signaling pathway |
disease_progression |
ISO |
DNA:SNP::rs11954856(human) |
RGD |
PMID:26715268 |
RGD:151356500 |
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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|
G |
Apob |
apolipoprotein B |
susceptibility |
ISO |
DNA:SNP: :rs693 (human) |
RGD |
PMID:20082485 PMID:17696941 |
RGD:2325761, RGD:2325764 |
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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|
G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:SNP:intron:rs440446 (human) |
RGD |
PMID:18296645 |
RGD:2317550 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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|
G |
Axin2 |
axin 2 |
disease_progression |
ISO |
DNA:SNP::s4791171(human) |
RGD |
PMID:26715268 |
RGD:151356500 |
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
|
|
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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|
G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
mRNA:increased expression:gallbladder |
RGD |
PMID:18497548 |
RGD:2324871 |
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547
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|
G |
Calr |
calreticulin |
exacerbates |
ISO |
mRNA, protein:increased expression:gall bladder (human) |
RGD |
PMID:33591948 |
RGD:150521682 |
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414
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|
G |
Ccr5 |
C-C motif chemokine receptor 5 |
onset |
ISO |
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human) |
RGD |
PMID:18405329 |
RGD:2317570 |
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
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|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:10435629 PMID:26822237 |
|
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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|
G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
susceptibility |
ISO |
DNA:transition:5' utr:-34T>C rs743572 (human) |
RGD |
PMID:16381022 |
RGD:2317619 |
NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:245,535,462...245,541,573
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|
G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
DNA:transition: :6235T>C (human) DNA:polymorphism: :p.I462V (human) |
RGD |
PMID:18287863 PMID:18990008 |
RGD:2317212, RGD:2317211 |
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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|
G |
Dpyd |
dihydropyrimidine dehydrogenase |
disease_progression |
ISO |
|
RGD |
PMID:16619549 |
RGD:2317631 |
NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982
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|
G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
DNA:SNP: :+61A>G (rs4444903)(human) |
RGD |
PMID:8093356 PMID:18571008 |
RGD:2317646, RGD:2317641 |
NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064
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|
G |
Gli1 |
GLI family zinc finger 1 |
disease_progression |
ISO |
DNA:SNP::rs2228226(human) |
RGD |
PMID:26715268 |
RGD:151356500 |
NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
|
ISO |
|
RGD |
PMID:26925680 |
RGD:14700928 |
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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|
G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
exacerbates |
ISO |
protein:increased expression:gall bladder (human) |
RGD |
PMID:26318166 |
RGD:11528126 |
NCBI chr19:40,081,126...40,082,910
Ensembl chr19:23,176,294...23,178,035
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|
G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
DNA:missense mutations, frameshift mutations:cds:multiple (human) |
RGD |
PMID:18692501 |
RGD:6893398 |
NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 PMID:25741868 PMID:26242988 PMID:28492532 PMID:31666701 PMID:35658005 More...
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NCBI chr 4:179,916,255...179,949,613
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|
G |
Lrp1b |
LDL receptor related protein 1B |
ameliorates |
ISO |
DNA:mutations:multiple: (human) |
RGD |
PMID:32898339 |
RGD:150429787 |
NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:24,594,991...26,715,505
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|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:21078999 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23946963 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26627007 PMID:26637981 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:37712948 More...
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NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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G |
Rbp4 |
retinol binding protein 4 |
disease_progression |
ISO |
associated with type 2 diabetes mellitus; protein:decreased expression:blood serum (human) |
RGD |
PMID:37273108 |
RGD:329849105 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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|
G |
Rictor |
RPTOR independent companion of MTOR, complex 2 |
|
ISO |
DNA:CNV, amplification:exon (human) |
RGD |
PMID:24508317 |
RGD:152995522 |
NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:55,811,322...55,901,426
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G |
Smad4 |
SMAD family member 4 |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:10479724 PMID:10764709 PMID:16152648 PMID:16436638 PMID:21465659 PMID:22810475 PMID:23239472 PMID:25931195 PMID:26467025 PMID:26689913 PMID:28492532 PMID:30851333 PMID:31949278 PMID:32561076 PMID:32719554 PMID:34393517 PMID:35982159 PMID:36158166 PMID:36451132 PMID:37319387 More...
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NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Gallbladder cancer |
ClinVar |
PMID:1631137 PMID:1978757 PMID:7478555 PMID:7791795 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8276238 PMID:8425176 PMID:8527048 PMID:8688334 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11370630 PMID:11782540 PMID:11793474 PMID:12406399 PMID:12506399 PMID:12826609 PMID:14673037 PMID:14743206 PMID:15925506 PMID:15993273 PMID:16199547 PMID:16818505 PMID:16861262 PMID:16969106 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17881637 PMID:18978813 PMID:19378321 PMID:19556618 PMID:19711436 PMID:19714490 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20436704 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21601526 PMID:21665182 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24382691 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25293557 PMID:25544776 PMID:25587027 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26718964 PMID:26787237 PMID:26911350 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28160093 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29324801 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30322717 PMID:30327374 PMID:30720243 PMID:31105275 PMID:31127191 PMID:31742824 PMID:31775759 PMID:32187361 PMID:32817165 PMID:33300245 PMID:33471991 PMID:34240179 PMID:36988593 More...
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NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:polymorphisms: :p.R194W, p.R399Q (human) |
RGD |
PMID:19266243 |
RGD:2317128 |
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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G |
Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
|
RGD |
PMID:7795450 |
RGD:2317512 |
NCBI chr 3:30,560,172...30,604,758
Ensembl chr 3:10,162,096...10,191,423
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G |
Actr3 |
actin related protein 3 |
severity |
ISO |
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) |
RGD |
PMID:23320827 |
RGD:11571623 |
NCBI chr13:39,353,413...39,396,509
Ensembl chr13:36,800,093...36,844,124
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
severity |
ISO |
|
RGD |
PMID:21545221 |
RGD:9684943 |
NCBI chr 4:121,148,102...121,335,549
Ensembl chr 4:119,590,771...119,778,232
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
exacerbates |
ISO |
mRNA:increased expression:gall bladder (human) |
RGD |
PMID:28295868 |
RGD:153297817 |
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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G |
Cfl1 |
cofilin 1 |
severity |
ISO |
Squamous Cell/Adenosquamous Carcinoma and Adenocarcinoma;protein:increased expression:gall bladder (human) |
RGD |
PMID:23320827 |
RGD:11571623 |
NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587
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G |
Clptm1l |
CLPTM1-like |
susceptibility |
ISO |
DNA:SNP, haplotype: :rs401681(human) |
RGD |
PMID:29450669 |
RGD:150530629 |
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530
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G |
Gpx3 |
glutathione peroxidase 3 |
severity |
ISO |
protein:decreased expression:gallbladder (human) |
RGD |
PMID:24167362 |
RGD:151665515 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
associated with Cholelithiasis |
RGD |
PMID:19065724 |
RGD:2317654 |
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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G |
Mir155 |
microRNA 155 |
disease_progression |
ISO |
miRNA:increased expression:gall bladder |
RGD |
PMID:26885061 |
RGD:21079444 |
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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G |
Mtus1 |
microtubule associated scaffold protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:31882471 |
RGD:25330344 |
NCBI chr16:57,905,991...58,051,466
Ensembl chr16:51,253,562...51,347,793
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G |
Ptch1 |
patched 1 |
disease_progression |
ISO |
|
RGD |
PMID:22407314 |
RGD:150523794 |
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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G |
Rac1 |
Rac family small GTPase 1 |
exacerbates |
ISO |
protein:increased expression:gallbladder (human) |
RGD |
PMID:21853342 |
RGD:155230819 |
NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251
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G |
Tert |
telomerase reverse transcriptase |
susceptibility |
ISO |
DNA:SNP, haplotype: :rs2736100(human) |
RGD |
PMID:29450669 |
RGD:150530629 |
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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G |
Tgfa |
transforming growth factor alpha |
|
ISO |
|
RGD |
PMID:9542514 |
RGD:2317470 |
NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894
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G |
Tjp1 |
tight junction protein 1 |
|
ISO |
protein:decreased expression:gallbladder |
RGD |
PMID:19184677 |
RGD:2325030 |
NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:118,849,838...119,094,432
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G |
Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
|
RGD |
PMID:18946757 |
RGD:2325157 |
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Ubr5 |
ubiquitin protein ligase E3 component n-recognin 5 |
ameliorates |
ISO |
human cell line in a mouse model |
RGD |
PMID:30775814 |
RGD:151665192 |
NCBI chr 7:71,000,197...71,109,841
Ensembl chr 7:69,116,761...69,224,903
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:1316610 PMID:8381579 PMID:8764128 PMID:9824584 PMID:15311282 PMID:17293347 PMID:20685668 PMID:22135120 PMID:27081525 PMID:28492532 PMID:35495172 More...
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NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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G |
Apoa1 |
apolipoprotein A1 |
|
ISO |
mRNA, protein:decreased expression:serum (human) |
RGD |
PMID:27974108 |
RGD:25671440 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:26822237 |
|
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 PMID:21665257 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26837699 PMID:27913932 PMID:28492532 PMID:28779002 PMID:29522266 PMID:29659569 PMID:30256826 PMID:30303537 PMID:30995915 PMID:31780696 PMID:32325837 PMID:33128190 PMID:33359728 PMID:33436325 PMID:33471991 PMID:34262154 PMID:34646395 PMID:35264596 PMID:35495172 PMID:35980532 PMID:36099812 PMID:37436117 PMID:39085400 More...
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NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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G |
Axin2 |
axin 2 |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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G |
Bard1 |
BRCA1 associated RING domain 1 |
|
ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:35264596 PMID:35495172 PMID:35534704 PMID:36187937 More...
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NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:72,623,155...72,694,265
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Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 PMID:21120943 PMID:21769658 PMID:23056405 PMID:23893897 PMID:24884479 PMID:25085752 PMID:25348012 PMID:25741868 PMID:26467025 PMID:26933808 PMID:27741520 PMID:28492532 PMID:30212499 PMID:31131967 PMID:31911673 PMID:33471991 PMID:33643918 PMID:35039564 PMID:35495172 PMID:35980532 More...
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NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 PMID:28492532 PMID:29522266 PMID:33471991 PMID:35495172 PMID:36099812 PMID:39085400 More...
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NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
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Cdh1 |
cadherin 1 |
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ISO |
protein:increased expression:liver |
RGD |
PMID:16465411 |
RGD:14402053 |
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cldn1 |
claudin 1 |
severity |
IEP |
mRNA,protein:decreased expression:liver, embryonic tissue (human) |
RGD |
PMID:16647953 |
RGD:26884349 |
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
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Col7a1 |
collagen type VII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:109,604,861...109,637,252
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Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatoblastoma protein:increased expression:cytoplasm,nucleus: |
CTD ClinVar RGD |
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:21237236 PMID:23265383 PMID:25741868 PMID:26822237 PMID:10398436 More...
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RGD:14402054 |
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 PMID:24813812 PMID:25741868 PMID:27401223 PMID:28250423 PMID:28492532 PMID:29300326 More...
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NCBI chr 1:208,444,434...208,460,408
Ensembl chr 1:199,015,081...199,031,055
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Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 PMID:35495172 |
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NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:87,356,457...87,736,616
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Dock8 |
dedicator of cytokinesis 8 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:222,649,309...222,842,474
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Dpep1 |
dipeptidase 1 |
ameliorates |
ISO |
human cells in mouse model |
RGD |
PMID:31541079 |
RGD:153344539 |
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Drosha |
drosha ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:61,864,970...61,976,688
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Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624 |
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NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc5 |
ERCC excision repair 5, endonuclease |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Ext2 |
exostosin glycosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:79,665,415...79,798,059
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Fah |
fumarylacetoacetate hydrolase |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 1:147,957,931...147,980,708
Ensembl chr 1:138,548,834...138,571,505
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Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancd2 |
FA complementation group D2 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 |
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NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os |
FANCD2 opposite strand |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Fancm |
FA complementation group M |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 PMID:29351780 PMID:32522261 PMID:35495172 More...
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NCBI chr 6:88,862,898...88,916,701
Ensembl chr 6:83,127,093...83,180,028
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Fas |
Fas cell surface death receptor |
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ISO |
mRNA,protein:increased expression:hepatocyte: ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar RGD |
PMID:28492532 PMID:10398166 |
RGD:14700699 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 PMID:35495172 |
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NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Fh |
fumarate hydratase |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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Flcn |
folliculin |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 |
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NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769
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Flna |
filamin A |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr X:157,159,051...157,185,559
Ensembl chr X:152,007,758...152,031,052
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Frmpd1 |
FERM and PDZ domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
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Gba1 |
glucosylceramidase beta 1 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 |
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NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:174,609,403...174,618,263
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Gli3 |
GLI family zinc finger 3 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712
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Gpc3 |
glypican 3 |
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ISO |
protein:increased expression:liver (human) |
RGD |
PMID:23530909 |
RGD:243065128 |
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
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Igf2 |
insulin-like growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23958494 |
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NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:36965188 |
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NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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Jmjd1c |
jumonji domain containing 1C |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122
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Kdr |
kinase insert domain receptor |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:27666373 PMID:28492532 |
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NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mir193a |
microRNA 193a |
exacerbates |
ISO |
RNA:decreased expression:liver (human) |
RGD |
PMID:31541079 |
RGD:153344539 |
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mir21 |
microRNA 21 |
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ISO |
miRNA:increased expression:plasma, extracellular exosome |
RGD |
PMID:27601233 |
RGD:14695023 |
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mir34a |
microRNA 34a |
severity |
ISO |
miRNA:increased expression:liver |
RGD |
PMID:27046304 |
RGD:14695006 |
NCBI chr 5:165,815,952...165,816,053
Ensembl chr 5:160,533,002...160,533,103
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G |
Mki67 |
marker of proliferation Ki-67 |
ameliorates |
ISO |
human cells in mouse model |
RGD |
PMID:31541079 |
RGD:153344539 |
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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G |
Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 PMID:35264596 |
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NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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Mutyh |
mutY DNA glycosylase |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
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Nap1l1 |
nucleosome assembly protein 1-like 1 |
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ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:12935928 |
RGD:9590075 |
NCBI chr 7:48,819,464...48,844,108
Ensembl chr 7:46,933,356...46,956,593
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G |
Ndrg4 |
NDRG family member 4 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr19:9,357,470...9,393,465
Ensembl chr19:9,351,404...9,386,914
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Nynrin |
NYN domain and retroviral integrase containing |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr15:33,302,778...33,325,120
Ensembl chr15:29,332,869...29,355,215
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Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11560253 |
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NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Recql |
RecQ like helicase |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 4:177,039,351...177,063,968
Ensembl chr 4:175,304,117...175,332,945
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Recql4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619
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Ren |
renin |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
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G |
Rhbdf2 |
rhomboid 5 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr10:102,331,991...102,359,117
Ensembl chr10:101,833,157...101,860,283
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Rps19 |
ribosomal protein S19 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:12586610 PMID:25741868 PMID:28492532 PMID:37897121 |
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NCBI chr 1:89,608,408...89,614,390
Ensembl chr 1:80,480,951...80,486,508 Ensembl chr 7:80,480,951...80,486,508
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G |
Sall1 |
spalt-like transcription factor 1 |
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ISO |
embryonal subtype;protein:increased expression:liver, nucleus (human) |
RGD |
PMID:23822878 |
RGD:11556217 |
NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705
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G |
Sall4 |
spalt-like transcription factor 4 |
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ISO |
Embryonal Hepatoblastoma;protein:increased expression:liver (human) |
RGD |
PMID:23822878 |
RGD:11556217 |
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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G |
Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:20404132 PMID:25741868 |
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NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616
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G |
Slx4 |
SLX4 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
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G |
Smo |
smoothened, frizzled class receptor |
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ISO |
protein:increased expression:liver |
RGD |
PMID:21159571 |
RGD:150521618 |
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
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G |
Spop |
speckle type BTB/POZ protein |
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ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:24912477 |
RGD:153298925 |
NCBI chr10:80,854,890...80,935,781
Ensembl chr10:80,358,124...80,483,955
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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G |
Tgfa |
transforming growth factor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11560253 |
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NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
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NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 PMID:19556618 PMID:20128691 PMID:20586629 PMID:21343334 PMID:22887876 PMID:23031740 PMID:23259501 PMID:25584008 PMID:25741868 PMID:26467025 PMID:26585234 PMID:26911350 PMID:27189670 PMID:28279309 PMID:28492532 PMID:28975465 PMID:29070607 PMID:29979965 PMID:30224644 PMID:31775759 PMID:32475984 PMID:32817165 PMID:33087929 More...
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NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Hepatoblastoma |
ClinVar |
PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 PMID:9829911 PMID:9829912 PMID:10340905 PMID:10567493 PMID:10612827 PMID:10761708 PMID:11106358 PMID:11257211 PMID:11739384 PMID:12056827 PMID:12202531 PMID:12414898 PMID:15177666 PMID:15300849 PMID:19228690 PMID:19574279 PMID:19906784 PMID:20447124 PMID:22234250 PMID:23990664 PMID:23990666 PMID:24033266 PMID:24055113 PMID:24969085 PMID:25637381 PMID:25741868 PMID:26211615 PMID:26467025 PMID:27051783 PMID:27146957 PMID:27527340 PMID:27930734 PMID:28492532 PMID:28503092 PMID:29790589 PMID:29871882 PMID:30877234 PMID:30898898 PMID:30943211 PMID:31087189 PMID:34628056 PMID:35495172 PMID:36175619 PMID:36480544 PMID:36515470 PMID:36813923 PMID:37273678 PMID:37937776 More...
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NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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G |
Zfhx3 |
zinc finger homeobox 3 |
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ISO |
protein:increased expression:liver (human) |
RGD |
PMID:33368532 |
RGD:151361168 |
NCBI chr19:52,789,146...53,795,664
Ensembl chr19:36,630,254...36,881,771
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G |
A2m |
alpha-2-macroglobulin |
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IEP ISO |
mRNA,protein:increased expression:liver: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15509519 PMID:15509519 |
RGD:1358261 |
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
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G |
Aadat |
aminoadipate aminotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr16:34,520,236...34,566,388
Ensembl chr16:29,509,394...29,544,332
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
severity |
IEP ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:16941710 PMID:30580964 |
RGD:1598532, RGD:24922199 |
NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
IEP ISO |
DNA:polymorphism: :c.3751G>A(human) DNA:polymorphism: : c.1465C > T(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17510421 PMID:25625052 PMID:24175826 PMID:23488625 |
RGD:11041138, RGD:14700905, RGD:14700904 |
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcb4 |
ATP binding cassette subfamily B member 4 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:114550 |
CTD MouseDO |
PMID:22022477 |
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NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:25842354 |
RGD:11535155 |
NCBI chr10:79,793,571...79,839,528
Ensembl chr10:79,296,693...79,342,595
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G |
Abce1 |
ATP binding cassette subfamily E member 1 |
|
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:21932399 |
RGD:11041873 |
NCBI chr19:45,109,880...45,134,819
Ensembl chr19:28,205,555...28,230,489
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
|
RGD |
PMID:32171747 |
RGD:126907997 |
NCBI chr 3:35,377,587...35,480,843
Ensembl chr 3:14,979,853...15,083,065
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G |
Acaca |
acetyl-CoA carboxylase alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21147110 |
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NCBI chr10:69,511,627...69,773,888
Ensembl chr10:69,014,170...69,276,457
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G |
Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
CTD Direct Evidence: therapeutic DNA:insertion/deletion:intron 16: |
CTD RGD |
PMID:16328049 PMID:25208933 |
RGD:11343535 |
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Acer3 |
alkaline ceramidase 3 |
disease_progression |
ISO |
|
RGD |
PMID:30097213 |
RGD:35673325 |
NCBI chr 1:161,915,397...162,017,802
Ensembl chr 1:152,504,186...152,606,591
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G |
Acly |
ATP citrate lyase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21147110 |
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NCBI chr10:85,912,402...85,964,605
Ensembl chr10:85,412,049...85,463,320
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G |
Aco2 |
aconitase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
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NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:113,385,646...113,428,261
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G |
Acox1 |
acyl-CoA oxidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12771043 PMID:15565109 |
|
NCBI chr10:101,905,083...101,930,136
Ensembl chr10:101,406,197...101,431,232
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G |
Acsl4 |
acyl-CoA synthetase long-chain family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 |
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NCBI chr X:110,739,633...110,803,416
Ensembl chr X:105,942,799...106,006,427
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G |
Actb |
actin, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 PMID:21472284 |
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NCBI chr12:16,776,664...16,779,634
Ensembl chr12:11,663,109...11,672,877
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G |
Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19514085 |
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NCBI chr11:38,418,565...38,427,384
Ensembl chr11:24,931,761...24,941,103
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G |
Adamts13 |
ADAM metallopeptidase with thrombospondin type 1 motif, 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:30,697,354...30,736,539
Ensembl chr 3:10,300,028...10,346,687
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G |
Add1 |
adducin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 |
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NCBI chr14:80,333,242...80,401,641
Ensembl chr14:76,108,654...76,167,182
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G |
Adgrg7 |
adhesion G protein-coupled receptor G7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr11:57,282,904...57,345,417
Ensembl chr11:43,813,801...43,876,316
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G |
Adh4 |
alcohol dehydrogenase 4 (class II), pi polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:229,622,092...229,640,120
Ensembl chr 2:226,947,466...226,987,591
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
susceptibility |
ISO |
DNA:SNP:intron:+276T>G (rs1501299) (human) |
RGD |
PMID:23740135 |
RGD:14401720 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G |
Adra1a |
adrenoceptor alpha 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr15:45,005,648...45,111,416
Ensembl chr15:40,832,534...40,927,500
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G |
Adra2b |
adrenoceptor alpha 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:135,038,481...135,042,527
Ensembl chr 3:114,585,169...114,589,355
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G |
Afp |
alpha-fetoprotein |
severity disease_progression treatment |
ISO IEP |
protein:increased expression:serum (human) associated with hepatitis B CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9029167 PMID:15276417 PMID:24012840 PMID:28284560 PMID:32961231 PMID:22147961 PMID:28611981 PMID:25968302 PMID:22392353 PMID:25999787 More...
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RGD:14401581, RGD:126790579, RGD:126790583, RGD:125097525, RGD:152177911 |
NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,573,412...17,591,480
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G |
Aicda |
activation-induced cytidine deaminase |
|
ISO |
|
RGD |
PMID:18997814 |
RGD:127285629 |
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:155,774,132...155,783,972
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G |
Ak3 |
adenylate kinase 3 |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:17203974 |
RGD:13842477 |
NCBI chr 1:236,151,012...236,178,689
Ensembl chr 1:226,739,318...226,764,625
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G |
Akr1a1 |
aldo-keto reductase family 1 member A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32805337 |
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NCBI chr 5:135,329,605...135,367,037
Ensembl chr 5:130,092,732...130,113,674
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G |
Akr1b1 |
aldo-keto reductase family 1 member B1 |
|
ISO IEP |
protein:increased expression:liver (human) protein:increased expression:liver (rat) |
RGD |
PMID:19422879 PMID:21683810 |
RGD:8548685, RGD:5509919 |
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
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G |
Akr1b10 |
aldo-keto reductase family 1 member B10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
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NCBI chr 4:64,005,632...64,027,860
Ensembl chr 4:63,040,169...63,053,852
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G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
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NCBI chr17:70,669,684...70,717,935
Ensembl chr17:65,759,788...65,775,764
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G |
Akt1 |
AKT serine/threonine kinase 1 |
treatment exacerbates |
ISO IEP |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:liver |
CTD RGD |
PMID:32045588 PMID:31801250 PMID:25999787 PMID:37460115 |
RGD:151893509, RGD:152177911, RGD:408364960 |
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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G |
Akt2 |
AKT serine/threonine kinase 2 |
|
IEP ISO |
protein:increased phosphorylation:liver cancer cell (rat) protein:increased phosphorylation:liver (mouse) |
RGD |
PMID:19309364 PMID:28100771 |
RGD:2313299, RGD:127285675 |
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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G |
Alb |
albumin |
susceptibility |
ISO |
associated with hepatitis C;protein:decreased expression:serum protein:decreased expression:serum (human) |
RGD |
PMID:23892757 PMID:29040987 PMID:22392353 |
RGD:11035269, RGD:14694841, RGD:125097525 |
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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G |
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) DNA:missense mutation:exon 12: (human) associated with hepatitis B;DNA;missense mutation, haplotype:cds: (rs671) (human) DNA:missense mutation:cds: (rs671) (human) mRNA, protein:decreased expression:liver (human) protein:decreased expression: liver (human) associated with hepatitis C:DNA:SNP:exon 12 (human) DNA:missense mutation:cds, exon 12:p.E487K (human) |
RGD |
PMID:25778454 PMID:18439068 PMID:10737710 PMID:26827895 PMID:29765251 PMID:28027570 PMID:26150517 PMID:12940444 PMID:1916152 More...
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RGD:11054822, RGD:15042862, RGD:15042859, RGD:15042857, RGD:14700899, RGD:15036809, RGD:14696779, RGD:14696778, RGD:14696699 |
NCBI chr12:40,610,244...40,643,220
Ensembl chr12:34,901,219...34,982,521
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G |
Aldh7a1 |
aldehyde dehydrogenase 7 family, member A1 |
severity |
ISO |
mRNA:altered expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr18:52,208,035...52,240,293
Ensembl chr18:50,009,934...50,042,193
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G |
Aldoc |
aldolase, fructose-bisphosphate C |
|
IEP |
mRNA:increased expression:liver |
RGD |
PMID:3830170 |
RGD:2301136 |
NCBI chr10:63,715,544...63,719,133
Ensembl chr10:63,217,451...63,221,066
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G |
Alx4 |
ALX homeobox 4 |
ameliorates |
ISO IEP |
mRNA, protein:decreased expression:liver |
RGD |
PMID:28081728 PMID:31132711 PMID:31132711 |
RGD:153323329, RGD:153323330, RGD:153323330 |
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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G |
Angptl6 |
angiopoietin-like 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:19,413,617...19,419,925
Ensembl chr 8:19,413,619...19,419,925
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G |
Ank3 |
ankyrin 3 |
|
ISO |
protein:decreased expression:liver |
RGD |
PMID:26652480 |
RGD:153344559 |
NCBI chr20:18,601,307...19,224,790
Ensembl chr20:18,602,786...19,086,300
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G |
Anln |
anillin, actin binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:20,858,228...20,921,538
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
treatment |
ISO |
|
RGD |
PMID:20650339 |
RGD:9684932 |
NCBI chr 4:121,148,102...121,335,549
Ensembl chr 4:119,590,771...119,778,232
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G |
Anxa10 |
annexin A10 |
disease_progression |
ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:35693827 |
RGD:153344586 |
NCBI chr16:32,505,025...32,571,961
Ensembl chr16:27,738,712...27,805,648
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G |
Anxa2 |
annexin A2 |
|
ISO |
mRNA, protein:increased expression:liver (human) |
RGD |
PMID:33675609 |
RGD:152999436 |
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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G |
Anxa4 |
annexin A4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
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NCBI chr 4:120,741,750...120,798,534
Ensembl chr 4:119,184,374...119,241,161
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G |
Anxa6 |
annexin A6 |
disease_progression |
ISO |
associated with tumor vascularization; protein:decreased expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr10:39,602,106...39,657,183
Ensembl chr10:39,097,109...39,156,433
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO ISS |
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma DNA:hypermethylation CTD Direct Evidence: marker/mechanism OMIM:114550 |
OMIM ClinVar CTD MouseDO RGD |
PMID:1316610 PMID:8381579 PMID:8381580 PMID:8395941 PMID:9101302 PMID:9536098 PMID:9585611 PMID:9824584 PMID:10713886 PMID:11001924 PMID:11247896 PMID:11317365 PMID:11466687 PMID:11748858 PMID:14961559 PMID:15311282 PMID:15459959 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17576681 PMID:17963004 PMID:18199528 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20685668 PMID:21859464 PMID:21901162 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22703879 PMID:23159591 PMID:23460355 PMID:23484150 PMID:24033266 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25479140 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25925381 PMID:25980754 PMID:26207792 PMID:26447891 PMID:26467025 PMID:26508446 PMID:26530882 PMID:26580448 PMID:26690363 PMID:26845104 PMID:26900293 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27600092 PMID:27852271 PMID:28051113 PMID:28127413 PMID:28135048 PMID:28135145 PMID:28195569 PMID:28492532 PMID:28526081 PMID:28726808 PMID:28828701 PMID:28873162 PMID:29510987 PMID:29641532 PMID:29684080 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30458888 PMID:30897307 PMID:31111538 PMID:31159747 PMID:31175917 PMID:31422818 PMID:31428572 PMID:31937788 PMID:32187665 PMID:32390703 PMID:33294277 PMID:34250417 PMID:34426522 PMID:35189564 PMID:35264596 PMID:37038467 PMID:38136308 PMID:38504345 PMID:28203651 More...
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RGD:14402050 |
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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G |
Apcs |
amyloid P component, serum |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 |
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NCBI chr13:87,905,532...87,906,508
Ensembl chr13:85,373,220...85,374,298
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G |
Apex1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25109342 PMID:33841550 |
RGD:152998960 |
NCBI chr15:26,618,146...26,620,330
Ensembl chr15:24,144,362...24,146,785
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G |
Apln |
apelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr X:132,058,739...132,091,518
Ensembl chr X:127,203,823...127,213,391
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G |
Apoa1 |
apolipoprotein A1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism associated with hepatitis B; protein:decreased expression:plasma (human) |
CTD RGD |
PMID:21472284 PMID:31211449 PMID:23935864 |
RGD:153350082, RGD:25671438 |
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
associated with hepatitis B; mRNA:increased expression:liver |
RGD |
PMID:31211449 |
RGD:153350082 |
NCBI chr13:86,176,767...86,178,819
Ensembl chr13:83,644,470...83,646,355
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G |
Apoa4 |
apolipoprotein A4 |
disease_progression |
ISO |
associated with hepatitis B; |
RGD |
PMID:31211449 |
RGD:153350082 |
NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoc1 |
apolipoprotein C1 |
disease_progression |
ISO |
associated with hepatitis B; |
RGD |
PMID:31211449 |
RGD:153350082 |
NCBI chr 1:88,475,018...88,479,052
Ensembl chr 1:79,346,136...79,350,375
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G |
Apoc2 |
apolipoprotein C2 |
|
ISO |
associated with hepatitis B; mRNA:increased expression:liver |
RGD |
PMID:31211449 |
RGD:153350082 |
NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:79,329,428...79,334,476
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G |
Apoc3 |
apolipoprotein C3 |
susceptibility disease_progression |
ISO |
associated with Chronic Hepatitis B;DNA:SNP: :rs2854116(human) associated with hepatitis B; |
RGD |
PMID:27547913 PMID:31211449 |
RGD:153344620, RGD:153350082 |
NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583
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G |
Apoc4 |
apolipoprotein C4 |
disease_progression |
ISO |
associated with hepatitis B; |
RGD |
PMID:31211449 |
RGD:153350082 |
NCBI chr 1:79,335,745...79,339,942
Ensembl chr 1:79,335,745...79,339,981
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G |
Apoe |
apolipoprotein E |
|
ISO |
protein:increased expression:liver, serum (mouse) |
RGD |
PMID:21644509 |
RGD:6903288 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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G |
Apof |
apolipoprotein F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 7:1,285,222...1,286,659
Ensembl chr 7:700,762...701,946
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G |
Aprt |
adenine phosphoribosyl transferase |
|
IEP |
protein:increased activity:hepatoma (rat) |
RGD |
PMID:6327016 |
RGD:5135035 |
NCBI chr19:67,534,737...67,537,027
Ensembl chr19:50,626,202...50,628,431
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G |
Ar |
androgen receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18639551 |
|
NCBI chr X:67,135,317...67,304,476
Ensembl chr X:63,104,771...63,273,925
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G |
Arg1 |
arginase 1 |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) |
RGD |
PMID:17210712 PMID:30901224 |
RGD:4140476, RGD:152995286 |
NCBI chr 1:22,295,093...22,307,720
Ensembl chr 1:20,475,968...20,488,422
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G |
Arhgap11a |
Rho GTPase activating protein 11A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:100,590,865...100,607,146
Ensembl chr 3:100,590,865...100,607,559
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G |
Arhgap44 |
Rho GTPase activating protein 44 |
exacerbates |
ISO |
protein:decreased expression:liver (human) |
RGD |
PMID:31136984 |
RGD:401901276 |
NCBI chr10:50,154,724...50,322,027
Ensembl chr10:49,655,584...49,824,297
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G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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G |
Arid1a |
AT-rich interaction domain 1A |
exacerbates treatment |
ISO |
CTD Direct Evidence: marker/mechanism human gene in mouse model associated with non-alcoholic steatohepatitis mRNA, protein:decreased expression:liver (human) mRNA, protein:increased expression:liver (human) |
CTD RGD |
PMID:22561517 PMID:22634756 PMID:22922871 PMID:29136504 PMID:29136504 PMID:26569409 PMID:29113912 PMID:25975202 PMID:26589513 More...
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RGD:126790634, RGD:126790634, RGD:11344640, RGD:125097519, RGD:125097495, RGD:125097485 |
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22634756 |
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NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:45,563,623...45,923,493
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G |
Arid2 |
AT-rich interaction domain 2 |
disease_progression exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism associated with hepatitis B;protein:decreased expression:liver |
CTD RGD |
PMID:21822264 PMID:22634756 PMID:25701229 PMID:28498550 PMID:27351279 PMID:32071245 More...
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RGD:150429631, RGD:150340712, RGD:150340711, RGD:150340708 |
NCBI chr 7:129,326,371...129,443,813
Ensembl chr 7:127,447,278...127,563,512
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G |
Arid3a |
AT-rich interaction domain 3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35179300 |
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NCBI chr 7:10,403,161...10,431,551
Ensembl chr 7:9,755,294...9,780,599
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G |
Arrb2 |
arrestin, beta 2 |
treatment |
IEP |
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RGD |
PMID:33841550 |
RGD:152998960 |
NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,146,818...55,154,850
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G |
Asf1b |
anti-silencing function 1B histone chaperone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr19:41,085,786...41,100,352
Ensembl chr19:24,181,028...24,195,549
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G |
Asl |
argininosuccinate lyase |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr12:32,295,779...32,313,257
Ensembl chr12:26,659,565...26,679,662
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G |
Asns |
asparagine synthetase (glutamine-hydrolyzing) |
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IEP |
protein:increased activity:serum (rat) |
RGD |
PMID:10081 |
RGD:2316006 |
NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:35,785,237...35,803,423
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G |
Aspg |
asparaginase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 6:136,997,832...137,017,417
Ensembl chr 6:131,176,874...131,196,268
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G |
Aspm |
assembly factor for spindle microtubules |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28284560 PMID:18676753 |
RGD:13439743 |
NCBI chr13:53,625,584...53,674,489
Ensembl chr13:51,074,849...51,123,755
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G |
Ass1 |
argininosuccinate synthase 1 |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) |
RGD |
PMID:12359751 PMID:30901224 |
RGD:4140479, RGD:152995286 |
NCBI chr 3:35,144,765...35,194,632
Ensembl chr 3:14,747,368...14,796,903
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G |
Atg101 |
autophagy related 101 |
disease_progression |
ISO |
|
RGD |
PMID:35592424 |
RGD:153350091 |
NCBI chr 7:132,398,477...132,407,643
Ensembl chr 7:132,398,483...132,407,633
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G |
Atg7 |
autophagy related 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29191453 |
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NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593
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G |
Atm |
ATM serine/threonine kinase |
exacerbates |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) |
CTD RGD |
PMID:12866955 PMID:19919837 |
RGD:126781750 |
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp5pb |
ATP synthase peripheral stalk-membrane subunit b |
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ISO |
associated with hepatitis C |
RGD |
PMID:18932288 |
RGD:14696822 |
NCBI chr 2:196,112,459...196,123,737
Ensembl chr 2:193,424,047...193,435,418
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G |
Atp5pd |
ATP synthase peripheral stalk subunit d |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
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NCBI chr10:101,156,673...101,161,926
Ensembl chr10:100,657,708...100,663,479
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G |
Aurka |
aurora kinase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:161,128,313...161,144,390
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G |
Aurkb |
aurora kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr10:54,243,116...54,249,675
Ensembl chr10:53,745,142...53,750,837
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G |
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) CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:10700176 PMID:25741868 PMID:25822088 PMID:28492532 PMID:37582359 PMID:10700176 PMID:31514071 PMID:22960659 PMID:26968103 More...
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RGD:1300371, RGD:150530482, RGD:150530481, RGD:14402039 |
NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615
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G |
Axin2 |
axin 2 |
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ISO |
protein:increased expression:liver: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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G |
Azgp1 |
alpha-2-glycoprotein 1, zinc-binding |
disease_progression |
ISO IEP |
mRNA:decreased expression:liver |
RGD |
PMID:22625427 PMID:26902423 PMID:27993894 |
RGD:153350130, RGD:153350133, RGD:153350132 |
NCBI chr12:22,044,685...22,051,248
Ensembl chr12:16,931,024...16,939,091
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G |
Azin1 |
antizyme inhibitor 1 |
disease_progression |
ISO |
RNA:increased editing:liver |
RGD |
PMID:23291631 |
RGD:14700705 |
NCBI chr 7:71,539,711...71,566,515
Ensembl chr 7:69,654,663...69,681,578
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G |
Banf1 |
barrier to autointegration nuclear assembly factor 1 |
treatment |
IEP ISO |
mRNA, protein:increased expression:liver (rat) mRNA, protein:increased expression:liver (human) |
RGD |
PMID:29059470 PMID:29059470 PMID:29059470 |
RGD:155791679, RGD:155791679, RGD:155791679 |
NCBI chr 1:212,101,523...212,103,568
Ensembl chr 1:202,671,305...202,674,188
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP |
|
RGD |
PMID:33841550 |
RGD:152998960 |
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
ISO IEP |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:28100771 PMID:33841550 |
RGD:127285675, RGD:152998960 |
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Bcl2l1 |
Bcl2-like 1 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism|therapeutic mRNA:increased expression:liver (mouse) |
CTD RGD |
PMID:10629087 PMID:11509945 PMID:33841550 PMID:28100771 |
RGD:152998960, RGD:127285675 |
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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G |
Bco2 |
beta-carotene oxygenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:59,778,571...59,803,597
Ensembl chr 8:50,882,181...50,915,467
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G |
Bcorl1 |
BCL6 co-repressor-like 1 |
disease_progression |
ISO |
|
RGD |
PMID:29679906 PMID:26879601 |
RGD:150340705, RGD:11556159 |
NCBI chr X:132,394,703...132,462,414
Ensembl chr X:127,537,538...127,584,087
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G |
Bhmt |
betaine-homocysteine S-methyltransferase |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr 2:26,594,852...26,614,429
Ensembl chr 2:24,859,873...24,879,742
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G |
Bhmt2 |
betaine-homocysteine S-methyltransferase 2 |
severity |
ISO |
mRNA:altered expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475
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G |
Bid |
BH3 interacting domain death agonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15289866 |
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NCBI chr 4:155,785,366...155,808,775
Ensembl chr 4:154,113,198...154,134,720
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
ameliorates treatment exacerbates |
ISO |
human cell line in a mouse model mRNA, protein:increased expression:liver (human) associated with hepatitis B;mRNA, protein:increased expression:liver (human) |
RGD |
PMID:30368883 PMID:30210622 PMID:33310033 PMID:22820591 PMID:22682366 |
RGD:152998937, RGD:152999010, RGD:152998988, RGD:152998986, RGD:152998984 |
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic mRNA:increased expression:liver (human) |
CTD RGD |
PMID:16086872 PMID:20514400 PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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G |
Birc7 |
baculoviral IAP repeat-containing 7 |
exacerbates |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606
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G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:26342799 |
RGD:14398326 |
NCBI chr13:79,174,898...79,190,116
Ensembl chr13:76,641,515...76,656,999
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
treatment |
ISO |
|
RGD |
PMID:26919246 |
RGD:14928318 |
NCBI chr17:86,240,683...86,250,044
Ensembl chr17:81,332,214...81,388,690
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G |
Bmper |
BMP-binding endothelial regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:21,732,225...21,977,261
Ensembl chr 8:21,732,225...21,977,256
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27222248 |
|
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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G |
Bsg |
basigin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36574092 |
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NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387
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G |
Btg2 |
BTG anti-proliferation factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18393292 |
|
NCBI chr13:48,083,931...48,087,690
Ensembl chr13:45,531,925...45,535,628
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G |
Bub1 |
BUB1 mitotic checkpoint serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 3:135,473,525...135,504,921
Ensembl chr 3:115,020,254...115,051,650
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547
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G |
C3 |
complement C3 |
|
IEP |
|
RGD |
PMID:23245919 |
RGD:11040806 |
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429
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G |
C6h14orf180 |
similar to human chromosome 14 open reading frame 180 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 6:131,557,193...131,568,245
Ensembl chr 6:131,559,690...131,567,342
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G |
C9 |
complement C9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 PMID:28284560 |
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NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338
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G |
Cab39 |
calcium binding protein 39 |
disease_progression |
ISO |
|
RGD |
PMID:28605041 PMID:28605041 |
RGD:14398832, RGD:14398832 |
NCBI chr 9:93,911,099...93,972,542
Ensembl chr 9:86,463,095...86,524,544
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
IEP IAGP |
mRNA:increased expression:liver DNA:amplification:cds (rat) |
RGD |
PMID:2888462 PMID:7053379 PMID:2914957 |
RGD:2303530, RGD:10755426, RGD:5132587 |
NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861
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G |
Cadm1 |
cell adhesion molecule 1 |
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IEP |
DNA, mRNA, protein:hypermethylation, decreased expression:promoter:liver |
RGD |
PMID:17428255 |
RGD:2289095 |
NCBI chr 8:56,744,374...57,075,264
Ensembl chr 8:47,847,325...48,182,833
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G |
Cadm2 |
cell adhesion molecule 2 |
disease_progression |
ISO |
mRNA, protein:decreased expression:liver |
RGD |
PMID:24240726 |
RGD:15092075 |
NCBI chr11:17,994,856...18,971,895
Ensembl chr11:4,555,159...5,525,400
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G |
Calml3 |
calmodulin-like 3 |
severity |
ISO |
protein:decreased expression:liver (human) |
RGD |
PMID:29445139 |
RGD:151665319 |
NCBI chr17:71,329,438...71,333,068
Ensembl chr17:66,419,882...66,423,175
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G |
Calr |
calreticulin |
exacerbates treatment |
ISO |
protein:increased expression:liver (human) human cells and recombinant gene in a mouse model |
RGD |
PMID:27055635 PMID:24997628 PMID:12096119 |
RGD:150521681, RGD:150521691, RGD:150521690 |
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:23,308,351...23,313,414
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G |
Camk2n1 |
calcium/calmodulin-dependent protein kinase II inhibitor 1 |
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ISO |
|
RGD |
PMID:23651211 |
RGD:18337283 |
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:150,673,507...150,676,600
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G |
Cap2 |
cyclase associated actin cytoskeleton regulatory protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr17:18,260,462...18,409,681
Ensembl chr17:18,054,431...18,203,373
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G |
Capn3 |
calpain 3 |
|
IEP |
mRNA:decreased expression:skeletal muscle |
RGD |
PMID:10806331 |
RGD:1600777 |
NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858
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G |
Car12 |
carbonic anhydrase 12 |
disease_progression ameliorates |
ISO |
mRNA:altered expression:liver |
RGD |
PMID:35362480 PMID:29900055 PMID:31934040 PMID:35362480 |
RGD:153352325, RGD:155226869, RGD:153352328, RGD:153352325 |
NCBI chr 8:76,169,723...76,225,465
Ensembl chr 8:67,274,359...67,330,440
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G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
|
NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:86,741,626...86,756,818
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G |
Car9 |
carbonic anhydrase 9 |
|
ISO |
mRNA:altered expression:liver |
RGD |
PMID:29900055 |
RGD:155226869 |
NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838
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G |
Carm1 |
coactivator-associated arginine methyltransferase 1 |
|
IEP |
mRNA,protein:increased expression:liver: |
RGD |
PMID:23912631 |
RGD:9586718 |
NCBI chr 8:20,097,262...20,141,950
Ensembl chr 8:20,097,254...20,147,689
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:29133031 PMID:33841550 |
RGD:13782296, RGD:152998960 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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G |
Casp8 |
caspase 8 |
severity treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism associated with hepatitis B;DNA:insertion/deletion:promoter: (rs3834129) (human) |
OMIM CTD RGD |
PMID:28643196 PMID:29133031 |
RGD:14695027, RGD:13782296 |
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:60,264,075...60,312,542
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G |
Casp9 |
caspase 9 |
treatment |
IEP |
|
RGD |
PMID:29133031 |
RGD:13782296 |
Ensembl chr 5:154,109,046...154,126,626
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G |
Cat |
catalase |
disease_progression |
ISO |
associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:33010264 PMID:21907168 |
RGD:27095879 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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G |
Cbfb |
core-binding factor subunit beta |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:17094378 |
RGD:126775147 |
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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G |
Cbl |
Cbl proto-oncogene |
disease_progression |
ISO |
|
RGD |
PMID:26474280 |
RGD:11536137 |
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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G |
Cbr1 |
carbonyl reductase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21056497 |
|
NCBI chr11:46,346,405...46,348,815
Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393 Ensembl chr11:32,908,950...32,911,393
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G |
Cbx2 |
chromobox 2 |
disease_progression |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:35693827 |
RGD:153344586 |
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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G |
Cbx4 |
chromobox 4 |
disease_progression |
ISO |
protein:increased expression:cytoplasm: |
RGD |
PMID:24838576 PMID:23943028 |
RGD:9586738, RGD:9586739 |
NCBI chr10:104,337,140...104,343,210
Ensembl chr10:104,336,876...104,356,706
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G |
Cbx7 |
chromobox 7 |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:22041561 |
RGD:9587355 |
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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G |
Ccbe1 |
collagen and calcium binding EGF domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr18:61,849,821...62,093,876
Ensembl chr18:59,580,768...59,824,400
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:26569409 |
RGD:11344640 |
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl12 |
C-C motif chemokine ligand 12 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:26569409 |
RGD:11344640 |
NCBI chr10:67,567,876...67,569,426
Ensembl chr10:67,070,230...67,071,780
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
RNA:increased expression:liver |
RGD |
PMID:27980102 PMID:22402625 PMID:12679798 PMID:27980102 |
RGD:14995459, RGD:14995927, RGD:14995468, RGD:14995459 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16284949 |
|
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
treatment susceptibility |
ISO |
associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human) DNA:polymorphisms:promoter:-403G>A,-28C>G (human) |
RGD |
PMID:28011329 PMID:21610221 PMID:22374185 |
RGD:14995306, RGD:14995338, RGD:14995333 |
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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G |
Ccn1 |
cellular communication network factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17699798 |
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NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484
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G |
Ccna1 |
cyclin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12029619 |
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NCBI chr 2:141,383,352...141,428,205
Ensembl chr 2:139,201,074...139,243,157
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G |
Ccnb1 |
cyclin B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172
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G |
Ccnb2 |
cyclin B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 8:79,968,459...79,981,717
Ensembl chr 8:71,087,595...71,100,874
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G |
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) |
CTD RGD |
PMID:12029619 PMID:19919837 PMID:22649188 PMID:25822088 PMID:26189965 PMID:25851350 PMID:28100771 More...
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RGD:14401586, RGD:127285675 |
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccnd2 |
cyclin D2 |
severity susceptibility disease_progression |
ISO |
associated with hepatitis B associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human) DNA:hypermethylation:CpG site |
RGD |
PMID:33320844 PMID:22004425 PMID:31059558 PMID:33320844 |
RGD:151664743, RGD:151665169, RGD:151665109, RGD:151664743 |
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
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G |
Ccne1 |
cyclin E1 |
ameliorates |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12029619 PMID:22634754 PMID:17196522 PMID:29551768 PMID:28100771 |
RGD:2289277, RGD:153297807, RGD:127285675 |
NCBI chr 1:99,918,672...99,927,986
Ensembl chr 1:90,781,949...90,791,101
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G |
Ccnf |
cyclin F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101
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G |
Ccng1 |
cyclin G1 |
severity treatment disease_progression |
IGI ISO IEP |
protein:decreased expression:liver (human) protein:increased expression:liver (human) human cells in mouse model |
RGD |
PMID:25431954 PMID:27982046 PMID:22835824 PMID:19584283 PMID:33543294 PMID:23804702 PMID:23804702 PMID:26345095 PMID:24034575 More...
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RGD:151356922, RGD:151361200, RGD:151361198, RGD:151356981, RGD:151356970, RGD:151356967, RGD:151356967, RGD:151356933, RGD:151356932 |
NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,176,234...25,181,641
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G |
Ccng2 |
cyclin G2 |
|
ISO |
|
RGD |
PMID:27982046 |
RGD:151361200 |
NCBI chr14:15,088,694...15,097,190
Ensembl chr14:14,804,322...14,812,830
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16284949 |
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NCBI chr 8:132,433,711...132,439,266
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G |
Cd163 |
CD163 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd274 |
CD274 molecule |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism associated with hepatitis B associated with hepatitis B |
CTD RGD |
PMID:22396772 PMID:21912640 PMID:30267213 |
RGD:41410800, RGD:40818240 |
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd276 |
Cd276 molecule |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16217749 |
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NCBI chr 8:67,833,587...67,863,918
Ensembl chr 8:58,937,751...58,968,380
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G |
Cd34 |
CD34 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr13:109,008,786...109,029,317
Ensembl chr13:106,480,043...106,499,832
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:19016771 |
RGD:2313413 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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G |
Cd5l |
Cd5 molecule-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 2:175,088,915...175,099,928
Ensembl chr 2:172,790,934...172,829,753
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G |
Cd68 |
Cd68 molecule |
severity |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:28656201 |
RGD:40924686 |
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697
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G |
Cdc20 |
cell division cycle 20 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 5:137,251,596...137,255,799
Ensembl chr 5:131,966,215...131,970,512
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G |
Cdc25c |
cell division cycle 25C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,335,834...26,356,185
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G |
Cdc27 |
cell division cycle 27 |
|
ISO |
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma |
ClinVar |
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NCBI chr10:89,900,676...89,949,770
Ensembl chr10:89,400,940...89,449,736
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G |
Cdc45 |
cell division cycle 45 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr11:95,689,702...95,714,980
Ensembl chr11:82,185,473...82,210,619
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G |
Cdc6 |
cell division cycle 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr10:84,360,361...84,374,239
Ensembl chr10:83,864,638...83,878,011
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G |
Cdca2 |
cell division cycle associated 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr15:41,895,946...41,942,226
Ensembl chr15:41,895,901...41,941,611
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G |
Cdca3 |
cell division cycle associated 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:157,634,928...157,638,799
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G |
Cdca5 |
cell division cycle associated 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 1:212,807,863...212,821,313
Ensembl chr 1:203,378,577...203,392,023
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G |
Cdca8 |
cell division cycle associated 8 |
disease_progression |
ISO |
mRNA:increased expression:liver (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28284560 PMID:35693827 |
RGD:153344586 |
NCBI chr 5:142,461,082...142,483,336
Ensembl chr 5:137,176,417...137,198,629
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G |
Cdh1 |
cadherin 1 |
severity |
IDA ISO |
DNA:hypermethylation protein:decreased expression:liver mRNA:increased expression:liver |
RGD |
PMID:17295234 PMID:18837082 PMID:24840851 PMID:30697077 PMID:30697077 |
RGD:2289638, RGD:14402047, RGD:14402046, RGD:14402045, RGD:14402045 |
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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G |
Cdh13 |
cadherin 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18425332 PMID:18553387 PMID:28284560 |
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NCBI chr19:63,258,251...64,296,122
Ensembl chr19:46,349,430...47,387,459
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G |
Cdk1 |
cyclin-dependent kinase 1 |
|
ISO |
protein:increased expression:liver (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:28284560 PMID:19136513 |
RGD:2316317 |
NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,266,248...19,281,408
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G |
Cdk12 |
cyclin-dependent kinase 12 |
exacerbates |
ISO |
mRNA, protein:increased expression:liver (human) |
RGD |
PMID:31519701 |
RGD:151361172 |
NCBI chr10:83,697,174...83,793,676
Ensembl chr10:83,201,211...83,280,888 Ensembl chr10:83,201,211...83,280,888
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G |
Cdk13 |
cyclin-dependent kinase 13 |
onset |
ISO |
DNA:amplification: : |
RGD |
PMID:22912832 |
RGD:155641228 |
NCBI chr17:51,945,975...52,040,218
Ensembl chr17:47,251,163...47,341,721
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|
G |
Cdk14 |
cyclin-dependent kinase 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22922871 |
|
NCBI chr 4:29,619,237...30,213,651
Ensembl chr 4:28,666,843...29,258,861
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G |
Cdk4 |
cyclin-dependent kinase 4 |
treatment |
ISO IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26189965 PMID:33841550 |
RGD:152998960 |
NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISS |
OMIM:114550 |
MouseDO |
|
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NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20698225 |
|
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn1c |
cyclin-dependent kinase inhibitor 1C |
severity |
ISO |
protein:decreased expression:liver (human) |
RGD |
PMID:26606000 |
RGD:11354707 |
NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:198,655,407...198,658,048
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
severity |
IEP ISO IDA |
Protein:increased expression:liver ClinVar Annotator: match by term: Hepatocellular carcinoma CTD Direct Evidence: marker/mechanism Protein:decreased expression:liver DNA:hypermethylation:exon DNA:hypermethylation:promoter |
ClinVar CTD RGD |
PMID:9185756 PMID:14508519 PMID:16317707 PMID:25741868 PMID:25780468 PMID:25822088 PMID:26225579 PMID:26467025 PMID:28284560 PMID:28492532 PMID:33010264 PMID:16317707 PMID:11301474 PMID:12359353 More...
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RGD:1600816, RGD:1600816, RGD:8552680, RGD:1600822 |
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
|
IEP |
Protein:decreased expression:liver |
RGD |
PMID:16317707 |
RGD:1600816 |
|
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33010264 |
|
NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:104,010,680...104,019,050
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G |
Cdkn2c |
cyclin-dependent kinase inhibitor 2C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 5:129,639,736...129,645,564
Ensembl chr 5:124,411,124...124,416,278
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G |
Cdkn3 |
cyclin-dependent kinase inhibitor 3 |
treatment severity |
ISO |
CTD Direct Evidence: marker/mechanism associated with alcoholism; protein:increased expression:liver protein:decreased expression:liver mRNA:increased expression:liver |
CTD RGD |
PMID:28284560 PMID:23292002 PMID:23292002 PMID:27314282 PMID:22390936 |
RGD:15090802, RGD:15090802, RGD:15090801, RGD:15090800 |
NCBI chr15:22,502,299...22,513,725
Ensembl chr15:20,022,664...20,033,945
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G |
Cdt1 |
chromatin licensing and DNA replication factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr19:67,529,249...67,534,195
Ensembl chr19:50,620,713...50,625,659
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16288022 PMID:21785164 |
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NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:87,759,433...87,762,412
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA: increased expression:liver (human) |
CTD RGD |
PMID:14563831 PMID:30659195 |
RGD:40903042 |
NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:156,397,052...156,399,473
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G |
Cebpd |
CCAAT/enhancer binding protein delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14563831 |
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NCBI chr11:98,268,856...98,269,994
Ensembl chr11:84,764,565...84,765,829
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G |
Celsr3 |
cadherin, EGF LAG seven-pass G-type receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 8:118,409,136...118,438,593
Ensembl chr 8:109,530,641...109,558,354
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G |
Cenpa |
centromere protein A |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) |
CTD RGD |
PMID:28284560 PMID:21956590 |
RGD:36947377 |
NCBI chr 6:31,420,062...31,431,703
Ensembl chr 6:25,700,142...25,711,675
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G |
Cenpe |
centromere protein E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:226,310,970...226,369,636
Ensembl chr 2:223,636,998...223,695,669
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G |
Cenpf |
centromere protein F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr13:103,715,344...103,760,931
Ensembl chr13:101,184,127...101,229,669
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G |
Cenpm |
centromere protein M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 7:113,748,026...113,759,296
Ensembl chr 7:113,747,516...113,764,258
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G |
Cenpu |
centromere protein U |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr16:45,715,821...45,739,038
Ensembl chr16:45,714,294...45,738,823
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G |
Cenpw |
centromere protein W |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 1:29,353,939...29,359,109
Ensembl chr 1:27,525,324...27,530,464
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G |
Cep131 |
centrosomal protein 131 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr10:105,844,433...105,868,811
Ensembl chr10:105,346,015...105,370,380
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G |
Cep164 |
centrosomal protein 164 |
susceptibility |
ISO |
associated with Chronic Hepatitis C;DNA:SNP: :rs573455 (human) |
RGD |
PMID:22004425 |
RGD:151665169 |
NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:46,071,076...46,134,336
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G |
Cep55 |
centrosomal protein 55 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
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G |
Ces1d |
carboxylesterase 1D |
disease_progression |
ISO |
protein:decreased expression:liver (human) associated with tumor vascularization; protein:decreased expression:liver tumor (human) mRNA, protein:decreased expression:liver tumor (human) |
RGD |
PMID:24259486 PMID:30901224 PMID:19658107 |
RGD:152995276, RGD:152995286, RGD:152995279 |
NCBI chr19:30,046,494...30,085,039
Ensembl chr19:13,796,623...13,912,035
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G |
Cfp |
complement factor properdin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr X:3,715,551...3,721,113
Ensembl chr X:1,161,979...1,167,573
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr11:46,670,560...46,690,739
Ensembl chr11:33,200,981...33,221,070
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
exacerbates |
ISO |
mRNA:increased expression:liver (human) protein:increased expression:liver (human) |
RGD |
PMID:28486105 PMID:26095183 |
RGD:153323299, RGD:11571740 |
NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:157,899,391...157,931,541
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G |
Chd5 |
chromodomain helicase DNA binding protein 5 |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:26517514 |
RGD:11537550 |
NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
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G |
Ckap2l |
cytoskeleton associated protein 2-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 3:136,950,390...136,977,503
Ensembl chr 3:116,498,022...116,524,366
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G |
Ckap4 |
cytoskeleton-associated protein 4 |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:increased expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr 7:19,230,814...19,238,914
Ensembl chr 7:19,230,203...19,238,914
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G |
Cldn1 |
claudin 1 |
severity |
IEP |
protein:increased expression:liver (human) associated with liver cirrhosis;protein:increased expression:liver (human) protein:decreased expression:liver (human) |
RGD |
PMID:24815833 PMID:24696415 PMID:17270214 |
RGD:26884345, RGD:26884352, RGD:26884348 |
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
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G |
Clec1b |
C-type lectin domain family 1, member B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 4:164,533,987...164,542,320
Ensembl chr 4:162,848,010...162,856,291
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G |
Clec4g |
C-type lectin domain family 4, member G |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr12:6,578,266...6,582,913
Ensembl chr12:1,780,371...1,784,985
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G |
Clec4m |
C-type lectin domain family 4 member M |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr12:6,713,795...6,722,414
Ensembl chr12:1,915,919...1,924,539
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G |
Clptm1l |
CLPTM1-like |
susceptibility disease_progression |
ISO |
DNA:SNPs::rs401681(human) DNA:SNP: :rs401681(human) |
RGD |
PMID:25339005 PMID:29042796 |
RGD:150530496, RGD:150537100 |
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:29,667,545...29,683,530
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G |
Cltrn |
collectrin, amino acid transport regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr X:33,993,825...34,027,124
Ensembl chr X:30,361,967...30,395,349
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G |
Cndp1 |
carnosine dipeptidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr18:80,254,499...80,305,845
Ensembl chr18:77,984,907...78,007,765
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G |
Cntnap4 |
contactin associated protein family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr19:57,477,447...57,765,173
Ensembl chr19:40,568,684...40,854,656
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G |
Col15a1 |
collagen type XV alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 5:66,297,546...66,403,172
Ensembl chr 5:61,501,963...61,607,591
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
severity |
IDA |
Protein:increased expression |
RGD |
PMID:15739185 |
RGD:1600906 |
NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
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G |
Colec10 |
collectin subfamily member 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 7:87,634,686...87,695,465
Ensembl chr 7:85,744,895...85,805,675
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341023 |
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NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
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G |
Cops5 |
COP9 signalosome subunit 5 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) |
CTD RGD |
PMID:20698225 PMID:26606000 |
RGD:11354707 |
NCBI chr 5:13,975,198...13,993,391
Ensembl chr 5:9,192,100...9,210,731
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G |
Cox7b2 |
cytochrome c oxidase subunit 7B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr14:36,693,120...36,805,323
Ensembl chr14:36,693,105...36,805,523
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G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19229483 |
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NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075
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G |
Cpeb3 |
cytoplasmic polyadenylation element binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 1:234,749,138...234,931,219
Ensembl chr 1:234,751,733...234,931,560
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr 9:76,063,863...76,186,739
Ensembl chr 9:68,614,153...68,737,033
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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G |
Crhbp |
corticotropin releasing hormone binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:26,692,403...26,704,710
Ensembl chr 2:26,692,403...26,704,710
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G |
Crp |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 |
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NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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G |
Csf1r |
colony stimulating factor 1 receptor |
severity exacerbates |
ISO |
DNA:hypomethylation:promoter (human) protein:increased expression:liver (human) protein:increased expression: liver (human) |
RGD |
PMID:32724427 PMID:14969845 PMID:11412385 PMID:32760707 |
RGD:150524282, RGD:150524302, RGD:150524301, RGD:150524286 |
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
|
RGD |
PMID:12731087 |
RGD:10450243 |
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,386,945...38,389,199
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G |
Csk |
C-terminal Src kinase |
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IEP |
protein:decreased expression:liver |
RGD |
PMID:9918913 |
RGD:5134372 |
NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:58,029,749...58,048,292
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G |
Csmd1 |
CUB and Sushi multiple domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr16:72,218,189...73,818,380
Ensembl chr16:72,218,503...73,817,614
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G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010
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G |
Csrnp1 |
cysteine and serine rich nuclear protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:128,582,364...128,594,163
Ensembl chr 8:119,704,713...119,718,183
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
protein:increased expression:CD4+ and CD8+ T cells: DNA:SNPs: :rs231775,rs231725(human) |
RGD |
PMID:28648905 PMID:23432218 |
RGD:14398741, RGD:14398742 |
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctnnb1 |
catenin beta 1 |
exacerbates severity susceptibility |
ISO |
DNA:mutation:exon 3 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) DNA:Mutations:exon: protein:increased expression:liver: associated with hepatitis B;DNA:SNPs: :rs3864004,rs11564475(human) associated with Hepatitis B, Chronic,DNA:SNP, haplotype: :rs3864004 (human) CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:20118494 PMID:21147764 PMID:21903672 PMID:23033978 PMID:23265383 PMID:24614104 PMID:24728327 PMID:24788118 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:25822088 PMID:26350204 PMID:26502894 PMID:26619011 PMID:26822237 PMID:27738331 PMID:27915094 PMID:27959697 PMID:28284560 PMID:28333917 PMID:28492532 PMID:28575650 PMID:29682453 PMID:30640974 PMID:31526516 PMID:10435629 PMID:27276713 PMID:19101982 PMID:19101982 PMID:28328801 PMID:26968103 More...
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RGD:734850, RGD:150429592, RGD:14402052, RGD:14402052, RGD:14402040, RGD:14402039 |
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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G |
Ctsb |
cathepsin B |
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IDA |
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RGD |
PMID:15641152 |
RGD:2315605 |
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsd |
cathepsin D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
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NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:197,527,467...197,539,488
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G |
Ctsl |
cathepsin L |
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IDA |
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RGD |
PMID:15641152 |
RGD:2315605 |
NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548
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G |
Cux1 |
cut-like homeobox 1 |
|
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:30561038 |
RGD:152985541 |
NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866 Ensembl chr 4:20,107,311...20,425,866
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
disease_progression treatment |
ISO |
|
RGD |
PMID:28592115 PMID:27245433 PMID:28638480 |
RGD:27095889, RGD:27095899, RGD:27095898 |
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
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ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:26569409 |
RGD:11344640 |
NCBI chr14:15,973,728...15,976,503
Ensembl chr14:15,689,424...15,692,271
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 PMID:28284560 |
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NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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G |
Cxcl14 |
C-X-C motif chemokine ligand 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr17:8,323,150...8,331,176
Ensembl chr17:8,317,933...8,324,839
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
treatment severity |
ISO |
human cells in mouse model protein:increased expression:liver (human) |
RGD |
PMID:30034941 PMID:33574707 |
RGD:151665331, RGD:151665327 |
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
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G |
Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21109933 |
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NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341023 |
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NCBI chr 1:255,476,861...255,484,547
Ensembl chr 1:245,535,462...245,541,573
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341023 |
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NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 8:66,971,261...66,978,149
Ensembl chr 8:58,075,367...58,082,312
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G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
disease_progression |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:35693827 |
RGD:153344586 |
NCBI chr 4:118,599,356...118,616,176
Ensembl chr 4:117,041,808...117,058,628
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 1:90,780,468...90,859,852
Ensembl chr 1:81,652,787...81,732,143
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
susceptibility |
ISO |
associated with hepatitis C; DNA:polymorphisms: : |
RGD |
PMID:11021356 |
RGD:124713413 |
NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:237,693,094...238,057,596
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G |
Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human) associated with alcohol dependence |
CTD RGD |
PMID:15162526 PMID:29765251 PMID:20364586 |
RGD:14700899, RGD:14700882 |
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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G |
Cyp39a1 |
cytochrome P450, family 39, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 9:17,230,455...17,306,775
Ensembl chr 9:17,230,455...17,306,775
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G |
Dab2ip |
DAB2 interacting protein |
severity |
ISO |
mRNA:decreased expression:liver (human) protein:decreased expression:liver (human) |
RGD |
PMID:31176165 PMID:22168621 |
RGD:151665110, RGD:151665148 |
NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:18,915,290...19,086,280
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G |
Dbh |
dopamine beta-hydroxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248
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G |
Dcn |
decorin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 7:34,167,973...34,208,004
Ensembl chr 7:32,281,252...32,321,270
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G |
Ddr1 |
discoidin domain receptor tyrosine kinase 1 |
severity |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:33173221 PMID:33173221 |
RGD:151347691, RGD:151347691 |
NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,044,320...3,064,468
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
treatment disease_progression |
ISO |
|
RGD |
PMID:33969575 PMID:26362312 |
RGD:150429748, RGD:11086753 |
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:82,195,463...82,317,363
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
exacerbates sexual_dimorphism |
ISO |
associated with hepatitis B; mRNA,protein:decreased expression:liver (human) |
RGD |
PMID:30297359 PMID:16301996 |
RGD:151356499, RGD:151356660 |
NCBI chr X:12,152,346...12,165,983
Ensembl chr X:9,479,532...9,493,168
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G |
Depdc1 |
DEP domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:251,343,250...251,376,709
Ensembl chr 2:248,684,523...248,717,951
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G |
Depdc1b |
DEP domain containing 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:41,605,686...41,697,207
Ensembl chr 2:39,891,481...39,963,779
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21725309 |
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NCBI chr14:81,956,777...82,087,392
Ensembl chr14:77,732,297...77,862,794
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G |
Dhfr |
dihydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Hepatocellular cancer |
ClinVar |
PMID:28492532 |
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NCBI chr 2:25,320,895...25,346,004
Ensembl chr 2:23,586,031...23,613,713
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G |
Dicer1 |
dicer 1 ribonuclease III |
susceptibility |
ISO |
associated with hepatitis B; DNA:SNP: :rs1057035 T>C (human) |
RGD |
PMID:23868705 |
RGD:149735346 |
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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G |
Dipk2b |
divergent protein kinase domain 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr X:4,205,486...4,274,939
Ensembl chr X:4,205,490...4,271,574
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G |
Diras3 |
DIRAS family GTPase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 6:136,346,157...136,347,371
Ensembl chr 6:130,524,742...130,530,825
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G |
Dlgap5 |
DLG associated protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr15:23,113,678...23,144,281
Ensembl chr15:20,633,966...20,664,518
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:26569409 |
RGD:11344640 |
NCBI chr 6:134,192,491...134,199,779
Ensembl chr 6:128,410,316...128,417,522
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G |
Dmgdh |
dimethylglycine dehydrogenase |
disease_progression |
ISO |
associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human) |
RGD |
PMID:30901224 |
RGD:152995286 |
NCBI chr 2:26,647,540...26,722,496
Ensembl chr 2:24,912,578...24,987,528
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G |
Dnajc6 |
DnaJ heat shock protein family (Hsp40) member C6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 5:121,232,532...121,398,775
Ensembl chr 5:116,119,676...116,283,448
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G |
Dnase1l3 |
deoxyribonuclease 1L3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr15:19,351,683...19,378,536
Ensembl chr15:16,922,335...16,948,317
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:11844796 |
RGD:2289670 |
NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO IEP |
protein:increased expression:liver: mRNA, protein:increased expression:liver |
RGD |
PMID:15885882 PMID:11844796 |
RGD:9588598, RGD:2289670 |
NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
|
ISO IEP |
mRNA:increased expression:liver: mRNA, protein:increased expression:liver |
RGD |
PMID:15885882 PMID:11844796 |
RGD:9588598, RGD:2289670 |
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18019677 |
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NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:206,609,122...207,474,982
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G |
Dsn1 |
DSN1 component of MIS12 kinetochore complex |
disease_progression |
ISO |
|
RGD |
PMID:30136646 |
RGD:27372884 |
NCBI chr 3:166,072,775...166,089,029
Ensembl chr 3:145,652,737...145,665,856
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G |
Dtl |
denticleless E3 ubiquitin protein ligase homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr13:105,646,908...105,685,921
Ensembl chr13:103,117,186...103,154,890
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G |
Dynlrb1 |
dynein light chain roadblock-type 1 |
|
ISO |
|
RGD |
PMID:11750132 |
RGD:13208527 |
NCBI chr 3:143,742,427...143,764,227
Ensembl chr 3:143,742,586...143,764,227
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G |
Dynlrb2 |
dynein light chain roadblock-type 2 |
|
ISO |
|
RGD |
PMID:11750132 |
RGD:13208527 |
NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387
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G |
E2f1 |
E2F transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12029619 PMID:15565109 PMID:28284560 |
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NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361
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G |
E2f8 |
E2F transcription factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 1:107,701,985...107,720,538
Ensembl chr 1:98,565,717...98,584,098
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G |
Eaf2 |
ELL associated factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20564326 |
|
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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G |
Ecm1 |
extracellular matrix protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 2:185,976,439...185,981,656
Ensembl chr 2:183,287,322...183,292,671
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G |
Ect2 |
epithelial cell transforming 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 2:111,904,522...111,966,786
Ensembl chr 2:109,975,813...110,037,911
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
exacerbates |
ISO |
protein:increased expression, increased phosphorylation:liver (human) |
RGD |
PMID:28060762 |
RGD:153298915 |
NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183
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G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
disease_progression |
ISO |
protein:decreased expression:liver: |
RGD |
PMID:23936443 |
RGD:10401793 |
NCBI chr14:106,811,769...106,890,961
Ensembl chr14:102,610,908...102,690,018
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G |
Eftud2 |
elongation factor Tu GTP binding domain containing 2 |
severity ameliorates |
ISO |
|
RGD |
PMID:34282556 PMID:34282556 |
RGD:155791664, RGD:155791664 |
NCBI chr10:88,304,992...88,352,229
Ensembl chr10:87,804,892...87,846,079
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G |
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) |
CTD RGD |
PMID:9029167 PMID:23790025 PMID:18167406 |
RGD:14695014, RGD:14695013 |
NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9029167 PMID:11355950 |
RGD:126781769 |
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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G |
Egr1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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G |
Egr2 |
early growth response 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562
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G |
Ehd3 |
EH-domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 6:27,392,709...27,417,445
Ensembl chr 6:21,639,290...21,665,236
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G |
Eif3h |
eukaryotic translation initiation factor 3, subunit H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14578863 |
|
NCBI chr 7:84,980,891...85,064,284
Ensembl chr 7:83,091,039...83,174,451
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G |
Enah |
ENAH, actin regulator |
disease_progression |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:35030977 |
RGD:155791678 |
NCBI chr13:93,617,747...93,738,119
Ensembl chr13:93,626,944...93,740,955
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G |
Eng |
endoglin |
|
IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:20368095 |
RGD:7257538 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Eno1 |
enolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
|
NCBI chr 5:166,002,867...166,014,252
Ensembl chr 5:160,719,951...160,731,336 Ensembl chr 3:160,719,951...160,731,336
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G |
Ep300 |
E1A binding protein p300 |
|
IEP |
protein:increased expression:liver (rat) |
RGD |
PMID:17083329 |
RGD:2312274 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Epas1 |
endothelial PAS domain protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26735578 |
|
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
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G |
Epcam |
epithelial cell adhesion molecule |
severity |
ISO |
protein:increased expression:liver |
RGD |
PMID:24616575 |
RGD:14695007 |
NCBI chr 6:12,633,715...12,649,678
Ensembl chr 6:6,878,237...6,896,127
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G |
Ephb1 |
Eph receptor B1 |
|
ISO |
protein:increased phosphorylation:liver (mouse) |
RGD |
PMID:28100771 |
RGD:127285675 |
NCBI chr 8:111,386,432...111,823,759
Ensembl chr 8:102,507,549...102,944,839
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G |
Ephx1 |
epoxide hydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7892276 |
|
NCBI chr13:95,246,079...95,275,852
Ensembl chr13:92,714,315...92,790,235
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G |
Epo |
erythropoietin |
disease_progression |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:35693827 |
RGD:153344586 |
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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G |
Eps8l3 |
EPS8 signaling adaptor L3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 2:198,202,862...198,216,255
Ensembl chr 2:195,514,692...195,528,085
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G |
Erbb3 |
erb-b2 receptor tyrosine kinase 3 |
disease_progression |
ISO |
|
RGD |
PMID:11355950 |
RGD:126781769 |
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:996,225...1,015,525
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
|
ISO |
DNA:insertion/deletion:3'UTR:rs6147150 (human) |
RGD |
PMID:22294845 |
RGD:126781763 |
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
|
ISO |
mRNA, protein:increased expression:liver (human) |
RGD |
PMID:15922480 |
RGD:155598683 |
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility disease_progression |
ISO |
DNA:SNPs:exon 23: p.K751Q (human) DNA:SNP:cd: 312A>G (human) DNA:SNPs:exon 23: p.K751Q (rs13181) (human) DNA:SNPs:exon 23: p.K751Q (human) |
RGD |
PMID:19919686 PMID:28927037 PMID:28598207 PMID:25531380 |
RGD:25671459, RGD:150530503, RGD:25671461, RGD:25671460 |
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ereg |
epiregulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35776891 |
|
NCBI chr14:17,311,485...17,325,260
Ensembl chr14:17,027,287...17,041,062
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G |
Ern1 |
endoplasmic reticulum to nucleus signaling 1 |
|
ISO |
DNA:hypomethylation: CpG islands: |
RGD |
PMID:20165882 |
RGD:14694974 |
NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,330,654...91,421,029
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G |
Erp29 |
endoplasmic reticulum protein 29 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
|
NCBI chr12:40,750,177...40,756,607
Ensembl chr12:35,089,707...35,096,376
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G |
Esm1 |
endothelial cell-specific molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 2:46,609,253...46,617,991
Ensembl chr 2:44,876,067...44,884,804
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G |
Esr1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 PMID:28284560 |
|
NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:41,210,475...41,495,002
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G |
Etfa |
electron transfer flavoprotein subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
|
NCBI chr 8:64,731,192...64,787,965
Ensembl chr 8:55,835,134...55,891,969
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G |
Exo1 |
exonuclease 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr13:90,341,947...90,366,861
Ensembl chr13:87,809,810...87,834,654
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G |
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 |
CTD RGD |
PMID:28284560 PMID:34545456 PMID:24211739 PMID:25226601 PMID:24040354 PMID:26517514 More...
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RGD:10755339, RGD:126779608, RGD:126779595, RGD:11537550 |
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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G |
F2 |
coagulation factor II, thrombin |
severity |
ISO |
CTD Direct Evidence: marker/mechanism associated with liver cirrhosis;protein:altered expression, altered processing:liver (human) |
CTD RGD |
PMID:2821104 PMID:7620113 |
RGD:14975114 |
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486
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G |
Fabp5 |
fatty acid binding protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472284 |
|
NCBI chr 2:93,672,451...93,676,186
Ensembl chr 2:91,765,056...91,853,773
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G |
Fam180a |
family with sequence similarity 180, member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 4:63,992,867...64,008,047
Ensembl chr 4:63,992,867...64,008,047
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G |
Fam83d |
family with sequence similarity 83, member D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 3:167,841,748...167,861,062
Ensembl chr 3:147,421,908...147,441,192
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G |
Fancd2 |
FA complementation group D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412
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G |
Fanci |
FA complementation group I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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G |
Fas |
Fas cell surface death receptor |
treatment |
IEP ISO |
protein:increased expression:liver: |
RGD |
PMID:29634416 PMID:30737368 PMID:11274632 |
RGD:13792608, RGD:14700700, RGD:14700677 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
|
ISO |
protein:increased expression:liver: |
RGD |
PMID:11274632 |
RGD:14700677 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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G |
Fasn |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14563831 PMID:15543204 PMID:21147110 |
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NCBI chr10:106,570,415...106,588,581
Ensembl chr10:106,072,091...106,090,261
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G |
Fat1 |
FAT atypical cadherin 1 |
disease_progression |
ISO |
mRNA,protein:increased expression:liver (human) |
RGD |
PMID:24590895 |
RGD:151347630 |
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107
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G |
Fbp1 |
fructose-bisphosphatase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22039417 |
|
NCBI chr17:2,212,941...2,235,749
Ensembl chr17:2,208,031...2,230,071
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G |
Fbxl18 |
F-box and leucine-rich repeat protein 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr12:11,674,538...11,701,317
Ensembl chr12:11,676,115...11,699,181
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G |
Fbxo11 |
F-box protein 11 |
exacerbates ameliorates |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:32657545 PMID:29518611 |
RGD:152025263, RGD:152025259 |
NCBI chr 6:12,240,348...12,316,223
Ensembl chr 6:6,486,015...6,562,662
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G |
Fdft1 |
farnesyl diphosphate farnesyl transferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21147110 |
|
NCBI chr15:41,588,114...41,616,168
Ensembl chr15:37,412,146...37,440,287
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G |
Fes |
FES proto-oncogene, tyrosine kinase |
exacerbates |
ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:31038805 |
RGD:153323297 |
NCBI chr 1:143,746,945...143,756,181
Ensembl chr 1:134,337,698...134,346,934
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G |
Fgf19 |
fibroblast growth factor 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25822088 |
|
NCBI chr 1:209,485,813...209,490,267
Ensembl chr 1:200,056,644...200,060,287
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G |
Fgf3 |
fibroblast growth factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25822088 |
|
NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:200,001,261...200,005,187
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G |
Fgf4 |
fibroblast growth factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25822088 |
|
NCBI chr 1:200,023,937...200,027,793
Ensembl chr 1:200,024,056...200,025,466
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:36029209 PMID:16452204 PMID:20155451 PMID:21573021 |
RGD:25330358, RGD:25440478, RGD:25440476 |
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
severity |
ISO |
associated with hepatitis B;DNA:SNPs: promoter, intron:rs308379, rs1219648 (human) |
RGD |
PMID:30952770 |
RGD:38501096 |
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
treatment |
ISO |
|
RGD |
PMID:32677805 |
RGD:150520166 |
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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G |
Fh |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Hepatocellular carcinoma |
ClinVar |
PMID:10896297 PMID:15221078 PMID:16876016 PMID:17182618 PMID:18313410 PMID:19151755 PMID:20301679 PMID:21445611 PMID:25637381 PMID:25741868 PMID:28492532 PMID:28747166 More...
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NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
|
IDA |
|
RGD |
PMID:12112319 |
RGD:632723 |
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
ameliorates |
ISO |
human cells in mouse model |
RGD |
PMID:27511526 |
RGD:149735514 |
NCBI chr12:12,660,035...12,735,584
Ensembl chr12:7,623,930...7,699,474
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G |
Flvcr1 |
FLVCR choline and heme transporter 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr13:105,117,402...105,139,780
Ensembl chr13:102,586,257...102,608,661
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9029167 PMID:28284560 |
|
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
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G |
Fosb |
FosB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
|
NCBI chr 1:88,082,324...88,089,506
Ensembl chr 1:78,954,115...78,961,465
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G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:30086463 PMID:32048611 |
RGD:153344517, RGD:153344521 |
NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:24,300,956...24,320,034
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G |
Foxa1 |
forkhead box A1 |
susceptibility sexual_dimorphism disease_progression |
ISO |
DNA:VNTR, SNPs, haplotypes:multiple: protein:decreased expression:liver |
RGD |
PMID:29208003 PMID:31400761 PMID:25965836 |
RGD:151665820, RGD:151665752, RGD:11054501 |
NCBI chr 6:80,838,380...80,871,195
Ensembl chr 6:75,103,503...75,136,188
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G |
Foxm1 |
forkhead box M1 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:114550 |
CTD MouseDO |
PMID:15082532 PMID:17173139 PMID:28284560 |
|
NCBI chr 4:161,639,538...161,652,012
Ensembl chr 4:161,638,816...161,650,684
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G |
Foxo1 |
forkhead box O1 |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:28972178 |
RGD:14401599 |
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
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G |
Foxp1 |
forkhead box P1 |
treatment |
IEP |
|
RGD |
PMID:25156538 |
RGD:9587823 |
NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
protein:increased expression:liver |
RGD |
PMID:21086571 |
RGD:38548919 |
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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G |
Fst |
follistatin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12203361 PMID:19363144 |
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NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:46,123,439...46,130,571
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G |
Fth1 |
ferritin heavy chain 1 |
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IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:9054589 |
RGD:632698 |
NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424
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G |
Fubp1 |
far upstream element binding protein 1 |
exacerbates ameliorates |
ISO |
mRNA:increased expression:liver (human) associated with Chronic Hepatitis C;mRNA:increased expression:liver (human) human cell line in a mouse model |
RGD |
PMID:31587040 PMID:25995247 PMID:19637194 |
RGD:151361188, RGD:151361196, RGD:151361194 |
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:241,159,512...241,186,602
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G |
G6pc1 |
glucose-6-phosphatase catalytic subunit 1 |
treatment |
ISO |
associated with Glycogen Storage Disease IA, human gene in a mouse model |
RGD |
PMID:28096054 |
RGD:14695537 |
NCBI chr10:86,807,659...86,819,023
Ensembl chr10:86,257,668...86,333,804
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
disease_progression |
IEP ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:25473368 PMID:35693827 |
RGD:10449118, RGD:153344586 |
NCBI chr X:157,352,364...157,372,144
Ensembl chr X:152,201,098...152,220,801
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:165,958,484...165,970,411
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16767786 PMID:21472284 |
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NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
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G |
Gba3 |
glucosylceramidase beta 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr14:64,787,601...64,934,043
Ensembl chr14:60,574,976...60,721,653
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G |
Gc |
GC, vitamin D binding protein |
susceptibility |
IEP ISO |
protein:increased expression:liver associated with Hepatitis B, Chronic;DNA:SNP: :rs7041(human) |
RGD |
PMID:21683810 PMID:25541958 |
RGD:5509919, RGD:14402025 |
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
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G |
Gdf15 |
growth differentiation factor 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20512989 |
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NCBI chr16:18,838,436...18,842,022
Ensembl chr16:18,805,239...18,808,055
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G |
Gdf2 |
growth differentiation factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23936038 PMID:28284560 |
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NCBI chr16:9,255,430...9,261,429
Ensembl chr16:9,255,430...9,261,429
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
disease_progression |
ISO |
RNA,protein:increased expression, activity:liver: HBV associated |
RGD |
PMID:11940314 PMID:10572675 PMID:27793641 |
RGD:14701040, RGD:14701048, RGD:14701041 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
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G |
Ghr |
growth hormone receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:52,542,594...52,804,735
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G |
Gins1 |
GINS complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 3:139,724,513...139,745,930
Ensembl chr 3:139,724,490...139,745,936
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G |
Gjb1 |
gap junction protein, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17978847 |
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NCBI chr X:70,541,845...70,549,776
Ensembl chr X:66,501,820...66,509,925
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G |
Gjb2 |
gap junction protein, beta 2 |
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IDA |
DNA, mRNA:promoter hypermethylation, decreased expression:liver |
RGD |
PMID:17295234 |
RGD:2289638 |
NCBI chr15:35,375,977...35,393,817
Ensembl chr15:31,260,357...31,278,177
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26189965 |
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NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:63,156,926...63,169,251
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G |
Glul |
glutamate-ammonia ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 |
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NCBI chr13:68,519,500...68,585,554
Ensembl chr13:66,025,630...66,035,108
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G |
Gmnn |
geminin, DNA replication inhibitor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr17:40,729,760...40,738,077
Ensembl chr17:40,301,808...40,310,054
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G |
Gmps |
guanine monophosphate synthase |
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IEP |
protein:increased activity:hepatoma (rat) |
RGD |
PMID:6861338 |
RGD:5135537 |
NCBI chr 2:150,587,824...150,641,564
Ensembl chr 2:148,435,643...148,485,875
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G |
Gnao1 |
G protein subunit alpha o1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Gnas |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma |
ClinVar |
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:30702195 More...
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NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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G |
Gnaz |
G protein subunit alpha z |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr20:13,642,853...13,693,616
Ensembl chr20:13,644,640...13,669,907
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G |
Gnmt |
glycine N-methyltransferase |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:114550 |
CTD MouseDO |
PMID:19146867 PMID:31086990 |
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NCBI chr 9:21,752,235...21,756,368
Ensembl chr 9:14,254,675...14,258,434
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G |
Golm1 |
golgi membrane protein 1 |
severity |
ISO |
protein:increased expression:serum mRNA, protein:increased expression:liver |
RGD |
PMID:21140449 PMID:21443671 |
RGD:401827118, RGD:401827119 |
NCBI chr17:4,996,978...5,049,278
Ensembl chr17:4,996,104...5,034,057
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G |
Gpc1 |
glypican 1 |
disease_progression |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:35693827 |
RGD:153344586 |
NCBI chr 9:100,843,645...100,871,458
Ensembl chr 9:93,396,234...93,424,047
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G |
Gpc3 |
glypican 3 |
exacerbates disease_progression severity treatment |
ISO IMP |
CTD Direct Evidence: marker/mechanism protein:increased expression:liver (human) protein:increased expression:blood serum (human) mRNA,protein:increased expression:peripheral blood mononuclear cell,blood serum, liver (human) mRNA:increased expression:Peripheral Blood (human) protein:increased expression:serum |
CTD RGD |
PMID:16698587 PMID:27286460 PMID:28284560 PMID:22883669 PMID:28801286 PMID:23558072 PMID:21438004 PMID:25449037 PMID:25449037 PMID:19496787 More...
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RGD:243065134, RGD:243065139, RGD:243065135, RGD:243065131, RGD:243065125, RGD:14695020, RGD:14695020, RGD:14695019 |
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:131,868,990...132,236,798
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G |
Gpm6a |
glycoprotein m6a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr16:43,374,385...43,706,461
Ensembl chr16:36,641,284...36,973,475
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G |
Gpr158 |
G protein-coupled receptor 158 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr17:83,777,625...84,244,428
Ensembl chr17:83,834,569...84,244,428
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G |
Gpr182 |
G protein-coupled receptor 182 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 7:65,471,254...65,474,110
Ensembl chr 7:63,578,750...63,589,210
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G |
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) |
RGD |
PMID:26990426 PMID:25894370 PMID:19929244 PMID:16510607 |
RGD:11533013, RGD:152998906, RGD:152995483, RGD:151708729 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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G |
Gpx3 |
glutathione peroxidase 3 |
severity disease_progression |
ISO |
mRNA,protein:decreased expression:liver, blood plasma (human) DNA:hypermethylation |
RGD |
PMID:25333265 PMID:27570561 PMID:25445749 |
RGD:151665355, RGD:401827855, RGD:151665509 |
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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G |
Grb7 |
growth factor receptor bound protein 7 |
exacerbates |
ISO |
protein:increased expression:liver (human) |
RGD |
PMID:17634422 |
RGD:151347655 |
NCBI chr10:83,936,538...83,949,344
Ensembl chr10:83,444,004...83,453,052
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility no_association |
ISO |
DNA:deletion:cds (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7892276 PMID:11859714 PMID:20672314 PMID:20683151 |
RGD:7488953, RGD:14700979, RGD:14700951 |
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:increased methylation:promoter |
CTD RGD |
PMID:9029167 PMID:22536438 |
RGD:14401712 |
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility no_association |
ISO |
DNA:deletion |
RGD |
PMID:23053942 PMID:20672314 PMID:20683151 |
RGD:14401714, RGD:14700979, RGD:14700951 |
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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G |
Gtse1 |
G-2 and S-phase expressed 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 7:118,829,793...118,846,662
Ensembl chr 7:116,950,053...116,966,806
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G |
Gys2 |
glycogen synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 4:177,096,063...177,137,236
Ensembl chr 4:175,365,054...175,406,228
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G |
H19 |
H19 imprinted maternally expressed transcript |
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IEP |
mRNA:increased expression:liver |
RGD |
PMID:17393425 |
RGD:2306187 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
Hamp |
hepcidin antimicrobial peptide |
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ISO IDA IEP |
CTD Direct Evidence: marker/mechanism DNA:hypermethylation,hypomethylation:promoter mRNA:decreased expression:liver (human) |
CTD RGD |
PMID:28284560 PMID:29235098 PMID:29235098 |
RGD:15042879, RGD:15042879 |
NCBI chr 1:95,298,332...95,300,271
Ensembl chr 1:86,170,901...86,172,891
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G |
Hao2 |
hydroxyacid oxidase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28284560 |
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NCBI chr 2:188,888,848...188,921,567
Ensembl chr 2:186,200,504...186,224,425
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
disease_progression |
ISO |
mRNA:increased expression:liver (human) |
RGD |
PMID:35693827 |
RGD:153344586 |
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
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G |
Havcr2 |
hepatitis A virus cellular receptor 2 |
disease_progression |
ISO |
associated with hepatitis B;DNA:SNP: : ���1516 G>T (human) |
RGD |
PMID:27034168 |
RGD:40818257 |
NCBI chr10:31,383,801...31,415,334
Ensembl chr10:30,882,606...30,909,137
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G |
Hdac2 |
histone deacetylase 2 |
disease_progression |
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:24448241 |
RGD:9590206 |
NCBI chr20:42,101,815...42,126,486
Ensembl chr20:40,548,250...40,571,609
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
mRNA:increased expression:liver: |
RGD |
PMID:21837748 |
RGD:9681451 |
NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164
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G |
Hfe |
homeostatic iron regulator |
disease_progression |
ISO |
associated with Liver Cirrhosis;DNA:missense mutation:cds:p.C282Y (human) |
RGD |
PMID:20019189 PMID:29642405 |
RGD:2317357, RGD:14746967 |
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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G |
Hgf |
hepatocyte growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9932610 PMID:11896611 |
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NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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G |
Hgfac |
HGF activator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19363144 |
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NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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G |
Hhip |
Hedgehog-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18559595 |
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NCBI chr19:44,768,038...44,856,878
Ensembl chr19:27,863,213...27,952,528
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
treatment disease_progression |
IMP ISO |
protein:increased expression:liver (human) |
RGD |
PMID:19335982 PMID:31321740 PMID:26078356 |
RGD:9068886, RGD:155882550, RGD:11526468 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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