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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:granulosa cell tumor
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Accession:DOID:2999 term browser browse the term
Definition:A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. (DO)
Synonyms:exact_synonym: Cancer of Granulosa Cells;   EFO:1000032;   Granulosa Cell Cancer;   Granulosa Cell Cancers;   Granulosa Cell Tumors;   Granulosa Cells Cancer;   Granulosa Cells Cancers;   Granulosa cell tumor, somatic;   granulosa cell neoplasm;   granulosa cell tumor, adult type;   granulosa cell tumour, sarcomatoid;   malignant granulosa cell neoplasm
 primary_id: MESH:D006106
 xref: EFO:1000032;   NCI:C24000;   NCI:C3070;   NCI:C4205
For additional species annotation, visit the Alliance of Genome Resources.

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granulosa cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone disease_progression ISO RGD PMID:19359032 RGD:2315639 NCBI chrNW_004624828:6,635,192...6,638,104
Ensembl chrNW_004624828:6,631,420...6,637,732 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chrNW_004624736:25,929,314...25,933,318
Ensembl chrNW_004624736:25,926,668...25,933,440 		JBrowse link
G Cmklr1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chrNW_004624747:11,553,268...11,601,105 JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Fancf FA complementation group F disease_progression
susceptibility		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:11049141 RGD:2298508 NCBI chrNW_004624766:13,583,664...13,585,684 JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chrNW_004624738:30,170,514...30,369,250
Ensembl chrNW_004624738:30,176,817...30,369,166 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chrNW_004624730:4,096,061...4,126,538
Ensembl chrNW_004624730:4,103,905...4,126,737 		JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chrNW_004624742:29,221,742...29,313,273
Ensembl chrNW_004624742:29,223,392...29,337,049 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) RGD PMID:11994539 PMID:15967102 RGD:2289157 RGD:2302176 NCBI chrNW_004624738:29,902,364...29,967,384
Ensembl chrNW_004624738:29,903,571...29,966,915 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889 		JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chrNW_004624739:22,539,369...22,635,090
Ensembl chrNW_004624739:22,539,087...22,635,248 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chrNW_004624800:6,138,236...6,140,922
Ensembl chrNW_004624800:6,139,006...6,140,679 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chrNW_004624942:508,035...641,349
Ensembl chrNW_004624942:507,605...641,585 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chrNW_004624853:4,415,816...4,503,317
Ensembl chrNW_004624853:4,444,876...4,502,496 		JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chrNW_004624733:10,927,264...10,983,049
Ensembl chrNW_004624733:10,931,061...10,983,669 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Wif1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chrNW_004624802:3,248,934...3,333,263
Ensembl chrNW_004624802:3,248,964...3,333,338 		JBrowse link
Granulosa Cell Tumor of the Ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chrNW_004624730:4,096,061...4,126,538
Ensembl chrNW_004624730:4,103,905...4,126,737 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of cellular proliferation 6872
      Neoplasms by Histologic Type 4747
        Gonadal Tissue Neoplasms 127
          sex cord-gonadal stromal tumor 36
            granulosa cell tumor 23
              Abrikosov's Tumor 0
              Granulosa Cell Tumor of the Ovary 1
              testicular granulosa cell tumor + 0
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      Urogenital Diseases 4514
        Female Urogenital Diseases and Pregnancy Complications 2374
          Female Urogenital Diseases 1976
            female reproductive system disease 1973
              Adnexal Diseases 990
                ovarian disease 983
                  Ovarian Neoplasms 694
                    ovarian cancer 584
                      granulosa cell tumor 23
                        Abrikosov's Tumor 0
                        Granulosa Cell Tumor of the Ovary 1
                        testicular granulosa cell tumor + 0
paths to the root