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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;   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 chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cmklr1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:42,974,462...43,027,321
Ensembl chr12:42,974,410...43,028,129 		JBrowse link
G Ctnnb1 catenin beta 1 ISO
ISS		 MouseDO
RGD		 PMID:16488995 RGD:1643593 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Fancf FA complementation group F disease_progression
susceptibility		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:2298508, RGD:11049141 NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO RGD PMID:15967102 PMID:11994539 RGD:2302176, RGD:2289157 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:11994539 RGD:2289157 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO RGD PMID:11994539 RGD:2289157 NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360 		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 chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of cellular proliferation 7791
      Neoplasms by Histologic Type 5409
        Gonadal Tissue Neoplasms 149
          sex cord-gonadal stromal tumor 38
            granulosa cell tumor 24
              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 19051
    disease of anatomical entity 18384
      Urogenital Diseases 5271
        Female Urogenital Diseases and Pregnancy Complications 2502
          Female Urogenital Diseases 2031
            female reproductive system disease 2028
              Adnexal Diseases 914
                ovarian disease 905
                  Ovarian Neoplasms 592
                    ovarian cancer 468
                      granulosa cell tumor 24
                        Abrikosov's Tumor 0
                        Granulosa Cell Tumor of the Ovary 1
                        testicular granulosa cell tumor + 0
paths to the root