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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:mixed cell type cancer
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Accession:DOID:154 term browser browse the term
Definition:A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. (DO)
Synonyms:exact_synonym: malignant mixed cancer
 related_synonym: malignant mixed neoplasm;   mixed neoplasm;   mixed tumor
 xref: EFO:0007373;   NCI:C3729;   NCI:C6930
For additional species annotation, visit the Alliance of Genome Resources.


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carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G VIM vimentin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593 		JBrowse link
G ZNF667-AS1 ZNF667 antisense RNA 1 (head to head) EXP CTD Direct Evidence: marker/mechanism CTD PMID:29707199 NCBI chr19:56,477,874...56,495,437
Ensembl chr19:56,477,250...56,504,362 		JBrowse link
endodermal sinus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein IEP protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G CTNNB1 catenin beta 1 IEP mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors RGD PMID:16822086 RGD:2298800 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FGF8 fibroblast growth factor 8 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G SALL4 spalt like transcription factor 4 IEP protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G WNT2B Wnt family member 2B IEP mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165 		JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein IEP protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:18719115 RGD:2306169 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
uterine carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A disease_progression IEP RGD PMID:16803529 RGD:2296053 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:26619011 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%) RGD PMID:17367465 RGD:2292170 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More... NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More... NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PROM1 prominin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21919130 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      cancer 6692
        cell type cancer 4570
          mixed cell type cancer 27
            carcinosarcoma + 19
            endodermal sinus tumor + 6
            malignant hemangioma + 0
            mixed epithelial stromal tumour 0
            mixed germ cell-sex cord neoplasm 0
            mixed lacrimal gland cancer 0
            teratocarcinoma 3
paths to the root