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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.


show annotations for term's descendants           Sort by:
carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046 		JBrowse link
G VIM vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170 		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 ISO protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		JBrowse link
G CTNNB1 catenin beta 1 ISO 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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G WNT2B Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 4:107,906,141...107,923,343
Ensembl chr 4:107,903,502...107,921,118 		JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein ISO protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr 2:142,384,526...142,387,407
Ensembl chr 2:142,384,532...142,387,199 		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 ISO RGD PMID:16803529 RGD:2296053 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:16397024 PMID:23220880 PMID:26619011 PMID:28492532 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:26619011 NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%) RGD PMID:17367465 RGD:2292170 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:23263490 PMID:23447401 PMID:24525744 PMID:24844595 PMID:25224212 More... NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:25533962 PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 More... NCBI chr 6:57,929,520...57,964,948
Ensembl chr 6:57,921,329...57,964,961 		JBrowse link
G PROM1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21919130 NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:960674 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Uterine carcinosarcoma ClinVar PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 NCBI chr13:206,244,772...206,257,697
Ensembl chr13:206,244,773...206,257,702 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of cellular proliferation 7153
      cancer 5187
        cell type cancer 3569
          mixed cell type cancer 25
            carcinosarcoma + 18
            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 2
paths to the root