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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 chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
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 8:55,423,825...55,425,729 		JBrowse link
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 5:151,192,014...151,265,386 		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 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Axin2 axin 2 ISO protein:increased expression:liver: RGD PMID:11809809 RGD:151356508 NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		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 chr 9:80,069,960...80,144,167
Ensembl chr 9:80,069,960...80,176,873 		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 chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:21665257 PMID:25085752 PMID:25186627 PMID:25741868 PMID:26787654 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:62,692,568...62,720,946 		JBrowse link
G Cdh1 cadherin 1 ISO protein:increased expression:liver RGD PMID:16465411 RGD:14402053 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G 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 chr11:87,926,337...87,941,529 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:118,483,364...118,517,439 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:cytoplasm,nucleus:
ClinVar Annotator: match by term: Hepatoblastoma 		CTD
ClinVar
RGD		 PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... RGD:14402054 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		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 chr 1:208,444,434...208,460,408
Ensembl chr 1:208,444,434...208,461,382 		JBrowse link
G Dis3l2 DIS3-like 3'-5' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr 9:94,802,056...95,184,523
Ensembl chr 9:94,804,382...95,184,522 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833 		JBrowse link
G Dpep1 dipeptidase 1 ameliorates ISO human cells in mouse model RGD PMID:31541079 RGD:153344539 NCBI chr19:68,118,270...68,143,781
Ensembl chr19:68,118,453...68,143,775 		JBrowse link
G Drosha drosha ribonuclease III ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:63,591,968...63,703,687 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		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 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:100,120,776...100,253,596 		JBrowse link
G Fah fumarylacetoacetate hydrolase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 1:147,957,931...147,980,708
Ensembl chr 1:147,957,935...147,981,046 		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 chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		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 4:148,234,633...148,299,035
Ensembl chr 4:148,234,708...148,299,035 		JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:148,296,552...148,303,328 		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 6:88,862,898...88,916,701
Ensembl chr 6:88,863,306...88,921,652 		JBrowse link
G Fas Fas cell surface death receptor 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 1:241,205,935...241,246,104 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 PMID:35495172 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:35495172 NCBI chr10:45,088,164...45,107,581
Ensembl chr10:45,088,167...45,107,309 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:64,238,730...64,340,778
Ensembl chr 5:64,238,768...64,340,776 		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 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:liver (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:136,789,770...137,157,639 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23958494 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:36965188 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,330,990...21,461,916 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		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 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mir193a microRNA 193a exacerbates ISO RNA:decreased expression:liver (human) RGD PMID:31541079 RGD:153344539 NCBI chr10:65,170,306...65,170,417 JBrowse link
G Mir21 microRNA 21 ISO miRNA:increased expression:plasma, extracellular exosome RGD PMID:27601233 RGD:14695023 NCBI chr10:71,902,600...71,902,691 JBrowse link
G 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 5:165,815,952...165,816,053 		JBrowse link
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 1:199,926,150...199,952,593 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:135,517,695...135,522,776 		JBrowse link
G Nap1l1 nucleosome assembly protein 1-like 1 ISO mRNA:increased expression:liver (human) RGD PMID:12935928 RGD:9590075 NCBI chr 7:48,819,464...48,844,108
Ensembl chr 7:48,819,477...48,844,104 		JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr19:9,357,470...9,393,465
Ensembl chr19:9,357,470...9,392,972 		JBrowse link
G Nynrin NYN domain and retroviral integrase containing ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr15:33,302,778...33,325,120
Ensembl chr15:33,295,954...33,324,383 		JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901 		JBrowse link
G Recql RecQ like helicase ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 4:177,039,351...177,063,968
Ensembl chr 4:177,035,128...177,063,838 		JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543 		JBrowse link
G Rhbdf2 rhomboid 5 homolog 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr10:102,331,991...102,359,117
Ensembl chr10:102,331,991...102,359,117 		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 1:89,608,408...89,614,390
Ensembl chr 7:104,324,520...104,325,132
Ensembl chr 1:104,324,520...104,325,132 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO embryonal subtype;protein:increased expression:liver, nucleus (human) RGD PMID:23822878 RGD:11556217 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO Embryonal Hepatoblastoma;protein:increased expression:liver (human) RGD PMID:23822878 RGD:11556217 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:20404132 PMID:25741868 NCBI chr12:40,391,755...40,414,336
Ensembl chr12:40,392,633...40,414,335 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:12,032,131...12,055,685
Ensembl chr10:12,033,048...12,055,650 		JBrowse link
G Smo smoothened, frizzled class receptor ISO protein:increased expression:liver RGD PMID:21159571 RGD:150521618 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:59,311,041...59,341,281 		JBrowse link
G Spop speckle type BTB/POZ protein ISO mRNA:decreased expression:liver (human) RGD PMID:24912477 RGD:153298925 NCBI chr10:80,854,890...80,935,781
Ensembl chr10:80,854,973...80,935,146 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:10,225,204...10,241,965 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11560253 NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:120,175,593...120,258,339 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Hepatoblastoma ClinVar NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		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 chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		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 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO protein:increased expression:liver (human) RGD PMID:33368532 RGD:151361168 NCBI chr19:52,789,146...53,795,664
Ensembl chr19:53,551,488...53,795,664 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    disease of cellular proliferation 7899
      Neoplasms by Histologic Type 5351
        Complex and Mixed Neoplasms 351
          hepatoblastoma 68
            macrotrabecular hepatoblastoma 0
            mixed hepatoblastoma 0
Path 2
Term Annotations click to browse term
  disease 19150
    disease of anatomical entity 18459
      gastrointestinal system disease 7219
        Digestive System Neoplasms 3856
          Gastrointestinal Neoplasms 3731
            gastrointestinal system cancer 2922
              hepatobiliary system cancer 1100
                liver cancer 1011
                  hepatoblastoma 68
                    macrotrabecular hepatoblastoma 0
                    mixed hepatoblastoma 0
paths to the root