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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 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G APOA1 apolipoprotein A1 ISO mRNA, protein:decreased expression:serum (human) RGD PMID:27974108 RGD:25671440 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:26822237 NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		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 chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041 		JBrowse link
G AXIN2 axin 2 ISO protein:increased expression:liver: RGD PMID:11809809 RGD:151356508 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086 		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 chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145 		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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 More... NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886 		JBrowse link
G CDH1 cadherin 1 ISO protein:increased expression:liver RGD PMID:16465411 RGD:14402053 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		JBrowse link
G CLDN1 claudin 1 severity ISO mRNA,protein:decreased expression:liver, embryonic tissue (human) RGD PMID:16647953 RGD:26884349 NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919 		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 chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		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 chr11:66,450,230...66,464,214
Ensembl chr11:69,721,741...69,735,715 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr2B:119,187,659...119,558,347
Ensembl chr2B:238,030,931...238,347,570 		JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910 		JBrowse link
G DPEP1 dipeptidase 1 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr16:70,365,900...70,392,377
Ensembl chr16:89,975,105...89,997,978 		JBrowse link
G DROSHA drosha ribonuclease III ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:78,813,923...78,945,149
Ensembl chr 5:84,194,546...84,322,310 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447 		JBrowse link
G FAH fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:59,121,657...59,155,229
Ensembl chr15:78,048,571...78,115,098 		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 chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147 		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 chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 3:10,038,805...10,043,651
Ensembl chr 3:10,392,169...10,392,702 		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 chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212 		JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FRMPD1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:37,497,210...37,595,867
Ensembl chr 9:38,421,706...38,519,025 		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 1:130,579,300...130,589,560
Ensembl chr 1:134,185,385...134,194,851 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		JBrowse link
G GPC3 glypican 3 ISO protein:increased expression:liver (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:122,677,072...123,131,511
Ensembl chr  X:132,979,612...133,432,441 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23958494 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:36965188 NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383 		JBrowse link
G JMJD1C jumonji domain containing 1C ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		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 chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159 		JBrowse link
G MKI67 marker of proliferation Ki-67 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555 		JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 PMID:35264596 NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645 		JBrowse link
G NAP1L1 nucleosome assembly protein 1 like 1 ISO mRNA:increased expression:liver (human) RGD PMID:12935928 RGD:9590075 NCBI chr12:73,549,887...73,589,621
Ensembl chr12:76,402,906...76,441,815 		JBrowse link
G NDRG4 NDRG family member 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr16:38,729,616...38,780,173
Ensembl chr16:57,857,414...57,907,557 		JBrowse link
G NYNRIN NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr14:5,174,889...5,195,706
Ensembl chr14:23,298,139...23,318,905 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
G RECQL RecQ like helicase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr12:64,796,383...64,829,165
Ensembl chr12:67,400,315...67,432,724 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 Ensembl chr 8:144,267,101...144,276,985 JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		JBrowse link
G RHBDF2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr17:70,418,630...70,449,510
Ensembl chr17:75,968,187...75,987,768 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:12586610 PMID:25741868 PMID:28492532 PMID:37897121 NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953 		JBrowse link
G SALL1 spalt like transcription factor 1 ISO embryonal subtype;protein:increased expression:liver, nucleus (human) RGD PMID:23822878 RGD:11556217 NCBI chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO Embryonal Hepatoblastoma;protein:increased expression:liver (human) RGD PMID:23822878 RGD:11556217 NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:108,977,344...109,024,029 JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842 		JBrowse link
G SMO smoothened, frizzled class receptor ISO protein:increased expression:liver RGD PMID:21159571 RGD:150521618 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G SPOP speckle type BTB/POZ protein ISO mRNA:decreased expression:liver (human) RGD PMID:24912477 RGD:153298925 NCBI chr17:43,685,913...43,765,277
Ensembl chr17:48,417,634...48,440,623 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856 		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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ISO protein:increased expression:liver (human) RGD PMID:33368532 RGD:151361168 NCBI chr16:51,936,471...52,209,695
Ensembl chr16:72,635,666...72,808,360 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15830
    disease of cellular proliferation 7465
      Neoplasms by Histologic Type 5134
        Complex and Mixed Neoplasms 331
          hepatoblastoma 65
            macrotrabecular hepatoblastoma 0
            mixed hepatoblastoma 0
Path 2
Term Annotations click to browse term
  disease 15830
    disease of anatomical entity 15487
      gastrointestinal system disease 6613
        Digestive System Neoplasms 3695
          Gastrointestinal Neoplasms 3578
            gastrointestinal system cancer 2805
              hepatobiliary system cancer 1015
                liver cancer 932
                  hepatoblastoma 65
                    macrotrabecular hepatoblastoma 0
                    mixed hepatoblastoma 0
paths to the root