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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.

GViewer not supported for the selected species.

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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 Inha inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chrNW_004936569:1,949,747...1,954,179
Ensembl chrNW_004936569:1,950,297...1,954,165 		JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Sex cord-stromal tumor ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chrNW_004936530:1,353,432...1,407,437 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 chrNW_004936588:1,342,791...1,345,746
Ensembl chrNW_004936588:1,343,085...1,345,654 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chrNW_004936606:4,474,801...4,496,158
Ensembl chrNW_004936606:4,474,749...4,496,810 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159 		JBrowse link
G Cmklr1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chrNW_004936769:302,391...304,166 JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		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_004936654:3,298,193...3,301,251 JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chrNW_004936473:397,140...1,424,805
Ensembl chrNW_004936473:676,237...1,424,506 		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_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chrNW_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255 		JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chrNW_004936482:17,162,854...17,238,319
Ensembl chrNW_004936482:17,162,950...17,238,274 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chrNW_004936591:5,771,371...5,846,177
Ensembl chrNW_004936591:5,774,326...5,836,444 		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_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543 		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_004936479:16,894,068...16,988,879
Ensembl chrNW_004936479:16,894,068...16,988,885 		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_004936481:3,821,564...3,828,086 JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chrNW_004936527:5,949,161...5,952,367
Ensembl chrNW_004936527:5,947,960...5,952,579 		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_004936560:1,979,804...2,009,167
Ensembl chrNW_004936560:1,979,808...2,088,329 		JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chrNW_004936535:3,582,512...3,626,312
Ensembl chrNW_004936535:3,582,489...3,657,063 		JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chrNW_004936597:3,225,374...3,264,604
Ensembl chrNW_004936597:3,225,374...3,264,604 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chrNW_004936572:2,137,820...2,182,674
Ensembl chrNW_004936572:2,137,332...2,182,742 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Wif1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chrNW_004936545:3,263,646...3,334,163
Ensembl chrNW_004936545:3,263,623...3,333,937 		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_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255 		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 chrNW_004936646:1,886,262...1,889,260 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 chrNW_004936587:4,573,166...4,578,480
Ensembl chrNW_004936587:4,572,728...4,578,461 		JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chrNW_004936510:4,679,349...4,696,511
Ensembl chrNW_004936510:4,679,321...4,696,529 		JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041 		JBrowse link
G Inha inhibin subunit alpha ISO protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats RGD PMID:11545298 RGD:2290379 NCBI chrNW_004936569:1,949,747...1,954,179
Ensembl chrNW_004936569:1,950,297...1,954,165 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism
DNA:transversion:CDS:1732G>C, amino acid D578H 		CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 RGD:2292537 RGD:2302176 NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chrNW_004936754:808,894...828,554
Ensembl chrNW_004936754:808,213...828,613 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chrNW_004936492:2,353,840...2,368,573
Ensembl chrNW_004936492:2,353,841...2,368,573 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO protein:increased expression:testis, leydig cell
mRNA:alternative form:testis 		RGD PMID:11920744 PMID:11994382 RGD:2298579 RGD:2298580 NCBI chrNW_004936482:16,804,129...16,853,539
Ensembl chrNW_004936482:16,807,569...16,853,587 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chrNW_004936504:4,762,251...4,799,789
Ensembl chrNW_004936504:4,762,184...4,799,829 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chrNW_004936552:7,204,298...7,212,632 JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chrNW_004936722:1,379,515...1,388,538
Ensembl chrNW_004936722:1,379,515...1,388,546 		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 reexpression in tumor derived cells eliminates the transformed phenotype RGD PMID:10602485 RGD:2290369 NCBI chrNW_004936569:1,949,747...1,954,179
Ensembl chrNW_004936569:1,950,297...1,954,165 		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 protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells RGD PMID:17414107 RGD:2290367 NCBI chrNW_004936569:1,949,747...1,954,179
Ensembl chrNW_004936569:1,950,297...1,954,165 		JBrowse link
Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chrNW_004936508:3,928,467...3,983,481
Ensembl chrNW_004936508:3,928,466...3,983,890 		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 chrNW_004936529:1,779,582...1,801,251
Ensembl chrNW_004936529:1,779,571...1,801,255 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    disease of cellular proliferation 7029
      Neoplasms by Histologic Type 4809
        Gonadal Tissue Neoplasms 134
          sex cord-gonadal stromal tumor 36
            Leydig cell tumor + 13
            Ovarian Gynandroblastoma 0
            Sertoli cell tumor 1
            Sertoli-Leydig cell tumor + 1
            Thecoma + 1
            granulosa cell tumor + 23
            luteoma 0
            ovarian sex-cord stromal tumor 0
            testicular sex cord-stromal neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      Urogenital Diseases 4671
        reproductive system disease 2976
          reproductive system neoplasm 1343
            reproductive organ cancer 1329
              sex cord-gonadal stromal tumor 36
                Leydig cell tumor + 13
                Ovarian Gynandroblastoma 0
                Sertoli cell tumor 1
                Sertoli-Leydig cell tumor + 1
                Thecoma + 1
                granulosa cell tumor + 23
                luteoma 0
                ovarian sex-cord stromal tumor 0
                testicular sex cord-stromal neoplasm + 0
paths to the root