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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:embryonal carcinoma
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Accession:DOID:3308 term browser browse the term
Definition:An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. (DO)
Synonyms:exact_synonym: embryonal carcinomas;   primary extragonadal embryonal carcinoma
 primary_id: MESH:D018236
 xref: GARD:5140;   NCI:C3752;   NCI:C8880
For additional species annotation, visit the Alliance of Genome Resources.



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embryonal carcinoma term browser
Symbol Object Name 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 chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709
JBrowse link
G CCNA2 cyclin A2 ISO protein:increased expression:testis RGD PMID:14696091 RGD:2293346 NCBI chr19:18,317,866...18,324,592
Ensembl chr19:18,318,004...18,323,691
JBrowse link
G CHEK2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468
JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052
JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011 PMID:26822237 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13842
    disease of cellular proliferation 6647
      cancer 4798
        cell type cancer 3282
          carcinoma 2811
            embryonal carcinoma 17
              central nervous system embryonal carcinoma 0
              embryonal rhabdomyosarcoma + 9
              embryonal testis carcinoma + 0
              ovarian embryonal carcinoma + 0
Path 2
Term Annotations click to browse term
  disease 13842
    disease of cellular proliferation 6647
      Neoplasms by Histologic Type 4571
        cell type cancer 3282
          germ cell cancer 83
            embryonal cancer 17
              embryonal carcinoma 17
                central nervous system embryonal carcinoma 0
                embryonal rhabdomyosarcoma + 9
                embryonal testis carcinoma + 0
                ovarian embryonal carcinoma + 0
paths to the root