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: dysgerminoma
Accession: DOID:4441
browse the term
Definition: A germ cell cancer that derives_from cells that give rise to egg cells. (DO)
Synonyms: exact_synonym: disgerminoma; disgerminomas; dysgerminomas
primary_id: MESH:D004407
xref: NCI:C2996
For additional species annotation, visit the
Alliance of Genome Resources .
G
AMHR2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:ovary
RGD
PMID:17988723
RGD:2315651
NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 PMID:32885271 PMID:33471991 More...
NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
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FGFR2
fibroblast growth factor receptor 2
ISO
associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2
RGD
PMID:17243131
RGD:2289660
NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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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
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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POU5F1
POU class 5 homeobox 1
ISO
RGD
PMID:15371950
RGD:2292443
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SET
SET nuclear proto-oncogene
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:26822237
NCBI chr 9:54,896,464...54,907,698
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ST14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069
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