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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hepatoblastoma
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Accession:DOID:687 term browser browse the term
Definition:A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)
Synonyms:exact_synonym: HBL;   hepatoblastomas
 narrow_synonym: embryonal hepatoblastoma
 primary_id: MESH:D018197
 xref: EFO:1000292;   GARD:2657;   ICD10CM:C22.2;   ICDO:8970/3;   NCI:C3728
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hepatoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 More... NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G APOA1 apolipoprotein A1 ISO mRNA, protein:decreased expression:serum (human) RGD PMID:27974108 RGD:25671440 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:26822237 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:11756177 PMID:16832357 PMID:17333338 PMID:19781682 PMID:20305132 More... NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G AXIN2 axin 2 ISO protein:increased expression:liver: RGD PMID:11809809 RGD:151356508 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
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 More... NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9971877 PMID:10717622 PMID:15937982 PMID:17826769 PMID:19941162 More... NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G CDH1 cadherin 1 ISO protein:increased expression:liver RGD PMID:16465411 RGD:14402053 NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
G CLDN1 claudin 1 severity ISO mRNA,protein:decreased expression:liver, embryonic tissue (human) RGD PMID:16647953 RGD:26884349 NCBI chr34:22,303,058...22,319,101
Ensembl chr34:22,303,850...22,319,033 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12270273 PMID:15670717 PMID:16207203 PMID:16392899 PMID:23042628 More... NCBI chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr25:43,754,382...44,099,497
Ensembl chr25:43,754,484...44,095,381 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 1:89,152,456...89,379,203
Ensembl chr 1:89,150,856...89,378,013 		JBrowse link
G DPEP1 dipeptidase 1 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr 5:63,909,034...63,923,309
Ensembl chr 5:63,909,042...63,923,492 		JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:29178624 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:57,300,422...57,326,546
Ensembl chr 3:57,300,441...57,326,486 		JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:28678401 PMID:30306255 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28678401 PMID:28881617 More... NCBI chr 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 NCBI chr 5:42,176,093...42,195,718
Ensembl chr 5:42,176,291...42,195,711 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr11:53,901,625...54,051,885
Ensembl chr11:53,939,807...54,051,756 		JBrowse link
G GBA1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12204005 PMID:21228398 PMID:23430543 PMID:25741868 NCBI chr 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G GPC3 glypican 3 ISO protein:increased expression:liver (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:104,313,426...104,751,215
Ensembl chr  X:104,313,591...104,751,756 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23958494 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:36965188 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199 		JBrowse link
G JMJD1C jumonji domain containing 1C ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 4:15,006,670...15,261,139
Ensembl chr 4:15,007,508...15,261,691 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:27666373 PMID:28492532 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MIR193A microRNA mir-193a exacerbates ISO RNA:decreased expression:liver (human) RGD PMID:31541079 RGD:153344539 NCBI chr 9:41,316,481...41,316,536
Ensembl chr 9:41,316,474...41,316,542 		JBrowse link
G MIR21 microRNA mir-21 ISO miRNA:increased expression:plasma, extracellular exosome RGD PMID:27601233 RGD:14695023 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		JBrowse link
G MIR34A microRNA mir-34a severity ISO miRNA:increased expression:liver RGD PMID:27046304 RGD:14695006 NCBI chr 5:62,485,832...62,485,897
Ensembl chr 5:62,485,832...62,485,897 		JBrowse link
G MKI67 marker of proliferation Ki-67 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539 		JBrowse link
G NAP1L1 nucleosome assembly protein 1 like 1 ISO mRNA:increased expression:liver (human) RGD PMID:12935928 RGD:9590075 NCBI chr15:19,141,803...19,175,576
Ensembl chr15:19,143,284...19,175,581 		JBrowse link
G NDRG4 NDRG family member 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 8:4,368,702...4,389,565
Ensembl chr 8:4,368,560...4,387,842 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992 		JBrowse link
G RECQL RecQ like helicase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr27:25,590,326...25,636,304
Ensembl chr27:25,590,831...25,636,685 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753 		JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:4,211,951...4,240,253
Ensembl chr 9:4,226,364...4,237,825 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12586610 PMID:25741868 PMID:28492532 PMID:37897121 NCBI chr 1:112,418,800...112,427,445
Ensembl chr 1:112,411,281...112,427,381 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO embryonal subtype;protein:increased expression:liver, nucleus (human) RGD PMID:23822878 RGD:11556217 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO Embryonal Hepatoblastoma;protein:increased expression:liver (human) RGD PMID:23822878 RGD:11556217 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190 		JBrowse link
G SMO smoothened, frizzled class receptor ISO protein:increased expression:liver RGD PMID:21159571 RGD:150521618 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033 		JBrowse link
G SPOP speckle type BTB/POZ protein ISO mRNA:decreased expression:liver (human) RGD PMID:24912477 RGD:153298925 NCBI chr 9:25,685,723...25,752,953
Ensembl chr 9:25,686,439...25,752,900 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr10:68,915,671...68,957,027 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:1565143 PMID:8401536 PMID:8633021 PMID:12826609 PMID:17606709 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:7563486 PMID:8634692 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:liver (human) RGD PMID:33368532 RGD:151361168 NCBI chr 5:78,450,963...78,635,615
Ensembl chr 5:78,455,005...78,610,033 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11129
    disease of cellular proliferation 5196
      Neoplasms by Histologic Type 3386
        Complex and Mixed Neoplasms 249
          hepatoblastoma 65
            macrotrabecular hepatoblastoma 0
            mixed hepatoblastoma 0
Path 2
Term Annotations click to browse term
  disease 11129
    disease of anatomical entity 10570
      gastrointestinal system disease 4377
        Digestive System Neoplasms 2238
          Gastrointestinal Neoplasms 2113
            gastrointestinal system cancer 1664
              hepatobiliary system cancer 1056
                liver cancer 977
                  hepatoblastoma 65
                    macrotrabecular hepatoblastoma 0
                    mixed hepatoblastoma 0
paths to the root