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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:sex cord-gonadal stromal tumor
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Accession:DOID:192 term browser browse the term
Definition:A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. (DO)
Synonyms:exact_synonym: gynandroblastoma;   gynandroblastomas;   sex cord stromal tumour;   sex cord-gonadal stromal tumour;   sex cord-stromal neoplasm;   sex cord-stromal tumor;   sex cord-stromal tumors;   specialized gonadal neoplasm;   specialized gonadal tumor;   specialized gonadal tumour
 narrow_synonym: malignant testicular sex cord-stromal tumor;   malignant testicular sex cord-stromal tumour
 xref: EFO:1000052;   ICDO:8590/1;   MESH:D018312;   MONDO:0006055;   NCI:C3794
For additional species annotation, visit the Alliance of Genome Resources.


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sex cord-gonadal stromal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Sex cord-stromal tumor ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Inha inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:84,443,109...84,446,009 		JBrowse link
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 7:9,557,451...9,559,867
Ensembl chr 7:9,557,451...9,559,867 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:109,114,322...109,134,855 		JBrowse link
G Cmklr1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:48,634,929...48,687,833
Ensembl chr12:48,634,003...48,691,458 		JBrowse link
G Ctnnb1 catenin beta 1 ISO
ISS 		MouseDO
RGD		 PMID:16488995 RGD:1643593 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		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 1:110,585,054...110,587,870
Ensembl chr 1:110,576,389...110,587,863 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr15:16,365,401...17,872,901
Ensembl chr15:16,747,338...17,872,621 		JBrowse link
G Foxl2 forkhead box L2 ISS MouseDO NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:10,952,329...11,160,288
Ensembl chr 6:10,952,329...11,160,288 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO RGD PMID:15967102 PMID:11994539 RGD:2302176, RGD:2289157 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:11,415,415...11,478,061 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:201,140,661...201,367,482 		JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:54,291,143...54,381,639
Ensembl chr 6:54,291,151...54,381,411 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:11994539 RGD:2289157 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 4:78,853,450...78,856,652
Ensembl chr 4:78,853,453...78,856,457 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO RGD PMID:11994539 RGD:2289157 NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:24,799,396...24,807,231 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr19:45,417,430...45,477,962
Ensembl chr19:45,417,433...45,477,957 		JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr17:7,867,640...7,896,983
Ensembl chr17:7,871,984...7,890,992 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:58,384,643...58,503,852 		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 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622 		JBrowse link
Leydig cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin-dependent kinase 4 ISO associated with Multiple Endocrine Neoplasia Type 1;protein:increased expression:testes RGD PMID:18310289 RGD:2293582 NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:64,771,147...64,775,163 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO associated with Multiple Endocrine Neoplasia Type 1;protein:decreased activity:testes RGD PMID:18310289 RGD:2293582 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:54,235,019...54,295,464 		JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Inha inhibin subunit alpha IEP protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats RGD PMID:11545298 RGD:2290379 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:84,443,109...84,446,009 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:105,037,457...105,038,445 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565 RGD:2302176, RGD:2292537 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:11,415,415...11,478,061 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:20,754,208...20,780,322 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO protein:increased expression:testis, leydig cell
mRNA:alternative form:testis 		RGD PMID:11994382 PMID:11920744 RGD:2298579, RGD:2298580 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr17:38,287,355...38,298,234
Ensembl chr17:38,288,162...38,298,217 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr15:31,938,927...31,948,318
Ensembl chr15:31,938,719...31,948,426 		JBrowse link
Sertoli cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inha inhibin subunit alpha ISO RGD PMID:10602485 RGD:2290369 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:84,443,109...84,446,009 		JBrowse link
Sertoli-Leydig cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inha inhibin subunit alpha ISO RGD PMID:17414107 RGD:2290367 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:84,443,109...84,446,009 		JBrowse link
Thecoma 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: Thecoma, somatic ClinVar PMID:2116665 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:117,167,045...117,187,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      Neoplasms by Histologic Type 3551
        Gonadal Tissue Neoplasms 145
          sex cord-gonadal stromal tumor 39
            Leydig cell tumor + 14
            Ovarian Gynandroblastoma 0
            Sertoli cell tumor 1
            Sertoli-Leydig cell tumor + 1
            Thecoma + 1
            granulosa cell tumor + 25
            luteoma 0
            ovarian sex-cord stromal tumor 0
            testicular sex cord-stromal neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      Urogenital Diseases 4547
        reproductive system disease 2889
          reproductive system neoplasm 1313
            reproductive organ cancer 1297
              sex cord-gonadal stromal tumor 39
                Leydig cell tumor + 14
                Ovarian Gynandroblastoma 0
                Sertoli cell tumor 1
                Sertoli-Leydig cell tumor + 1
                Thecoma + 1
                granulosa cell tumor + 25
                luteoma 0
                ovarian sex-cord stromal tumor 0
                testicular sex cord-stromal neoplasm + 0
paths to the root