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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:Neoplasms derived from the primitive sex cord or gonadal stromal cells of the embryonic GONADS. They are classified by their presumed histogenesis and differentiation. From the sex cord, there are SERTOLI CELL TUMOR and GRANULOSA CELL TUMOR; from the gonadal stroma, LEYDIG CELL TUMOR and THECOMA. These tumors may be identified in either the OVARY or the TESTIS.
Synonyms:exact_synonym: Gynandroblastoma;   Sex Cord Stromal Tumor;   Sex Cord-Stromal Tumors;   gynandroblastomas;   sex cord stromal tumour;   sex cord-gonadal stromal tumour;   sex cord-stromal neoplasm;   specialized gonadal neoplasm;   specialized gonadal tumor;   specialized gonadal tumour
 narrow_synonym: malignant testicular sex cord-stromal tumor;   malignant testicular sex cord-stromal tumour
 primary_id: MESH:D018312
 xref: 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 Inha inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chrNW_004936569:1,949,747...1,954,179 JBrowse link
G LOC101971027 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Sex cord-stromal tumor ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 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 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 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 JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chrNW_004936652:3,576,975...3,582,790 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 PMID:16488995 RGD:1643593 NCBI chrNW_004936473:29,999,542...30,034,610 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 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 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 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 JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chrNW_004936591:5,771,371...5,846,177 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 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 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 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 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 JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chrNW_004936535:3,582,512...3,626,312 JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI 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 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chrNW_004936476:16,245,134...16,261,180 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 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 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 JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chrNW_004936510:4,679,349...4,696,511 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 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 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 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 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 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 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 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 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 JBrowse link
multinodular goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease III ISO OMIM NCBI chrNW_004936846:528,768...584,599 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 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 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 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13024
    disease of anatomical entity 12705
      reproductive system disease 2566
        reproductive organ cancer 1073
          sex cord-gonadal stromal tumor 37
            Leydig cell tumor + 13
            Ovarian Gynandroblastoma 0
            Sertoli cell tumor 1
            Sertoli-Leydig cell tumor + 2
            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 13024
    disease of anatomical entity 12705
      Urogenital Diseases 3714
        reproductive system disease 2566
          reproductive organ cancer 1073
            sex cord-gonadal stromal tumor 37
              Leydig cell tumor + 13
              Ovarian Gynandroblastoma 0
              Sertoli cell tumor 1
              Sertoli-Leydig cell tumor + 2
              Thecoma + 1
              granulosa cell tumor + 23
              luteoma 0
              ovarian sex-cord stromal tumor 0
              testicular sex cord-stromal neoplasm + 0
paths to the root