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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 chr20:55,190,607...55,262,245 JBrowse link
G INHA inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		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 chr19:1,260,219...1,263,395 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156 		JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:105,859,702...105,911,010
Ensembl chr12:109,260,130...109,261,271 		JBrowse link
G CTNNB1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		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 chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr 3:59,670,777...61,177,974 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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768 		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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422 		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 chr 7:99,021,209...99,140,652
Ensembl chr 7:111,748,463...111,866,044 		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 chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 7:141,953,600...141,956,991
Ensembl chr 7:154,106,275...154,109,635 		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 chr 6:131,936,397...132,082,670
Ensembl chr 6:136,033,851...136,180,121 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 5:131,524,229...131,574,119
Ensembl chr 5:137,664,067...137,712,635 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr12:23,795,280...23,866,666
Ensembl chr12:24,299,351...24,370,807 		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 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988 		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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876 		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 chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr 6:84,962,974...84,972,638
Ensembl chr 6:88,236,206...88,247,300 		JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr13:9,584,850...9,779,542 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 chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr19:46,017,880...46,021,395
Ensembl chr19:54,738,139...54,739,424 		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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:648,722...672,023 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		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 chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr14:3,737,741...3,746,646
Ensembl chr14:21,836,984...21,846,018 		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 chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		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 chr2B:106,828,948...106,832,993
Ensembl chr2B:225,419,176...225,423,386 		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 chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780 		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 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    disease of cellular proliferation 7469
      Neoplasms by Histologic Type 5135
        Gonadal Tissue Neoplasms 139
          sex cord-gonadal stromal tumor 38
            Leydig cell tumor + 14
            Ovarian Gynandroblastoma 0
            Sertoli cell tumor 1
            Sertoli-Leydig cell tumor + 1
            Thecoma + 1
            granulosa cell tumor + 24
            luteoma 0
            ovarian sex-cord stromal tumor 0
            testicular sex cord-stromal neoplasm + 0
Path 2
Term Annotations click to browse term
  disease 15838
    disease of anatomical entity 15494
      Urogenital Diseases 4922
        reproductive system disease 3129
          reproductive system neoplasm 1421
            reproductive organ cancer 1406
              sex cord-gonadal stromal tumor 38
                Leydig cell tumor + 14
                Ovarian Gynandroblastoma 0
                Sertoli cell tumor 1
                Sertoli-Leydig cell tumor + 1
                Thecoma + 1
                granulosa cell tumor + 24
                luteoma 0
                ovarian sex-cord stromal tumor 0
                testicular sex cord-stromal neoplasm + 0
paths to the root