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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.


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Sex cord-stromal tumor ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G INHA inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		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 IEP RGD PMID:19359032 RGD:2315639 NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CCND2 cyclin D2 IEP mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IEP RGD PMID:12203782 RGD:2296066 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IEP RGD PMID:12203782 RGD:2296066 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:108,288,046...108,339,311
Ensembl chr12:108,288,044...108,339,317 		JBrowse link
G CTNNB1 catenin beta 1 ISO
ISS 		MouseDO
RGD		 PMID:16488995 RGD:1643593 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FANCF FA complementation group F disease_progression
susceptibility 		IDA
ISO 		DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:2298508, RGD:11049141 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase IDA DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459 		JBrowse link
G FSHR follicle stimulating hormone receptor IEP mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO
IEP 		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) RGD PMID:15967102 PMID:11994539 RGD:2302176, RGD:2289157 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta IEP mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 7:107,044,705...107,161,811
Ensembl chr 7:107,044,705...107,161,811 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 IEP mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 5:136,132,845...136,182,733
Ensembl chr 5:136,132,845...136,188,747 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IEP protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G VEGFA vascular endothelial growth factor A IMP RGD PMID:19524286 RGD:2315463 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr12:65,050,626...65,121,305
Ensembl chr12:65,050,626...65,121,305 		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 IAGP ClinVar Annotator: match by term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		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 chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		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 chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide IEP RGD PMID:16007123 RGD:2293633 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106 		JBrowse link
G ESR1 estrogen receptor 1 IEP protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP RGD PMID:14517422 RGD:2301251 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G INHA inhibin subunit alpha ISO RGD PMID:11545298 RGD:2290379 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO
EXP
IAGP 		CTD Direct Evidence: marker/mechanism
DNA:transversion:CDS:1732G>C, amino acid D578H 		CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565 RGD:2302176, RGD:2292537 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G PDGFA platelet derived growth factor subunit A IEP protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IEP mRNA:alternative form:testis
protein:increased expression:testis, leydig cell 		RGD PMID:11920744 PMID:11994382 RGD:2298580, RGD:2298579 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 IEP protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		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 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		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 IEP protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells RGD PMID:17414107 RGD:2290367 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		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 IAGP ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517 		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 IAGP ClinVar Annotator: match by term: Thecoma, somatic ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    disease of cellular proliferation 29501
      Neoplasms by Histologic Type 22532
        Gonadal Tissue Neoplasms 146
          sex cord-gonadal stromal tumor 39
            Leydig cell tumor + 15
            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 151455
    disease of anatomical entity 138485
      Urogenital Diseases 16387
        reproductive system disease 11358
          reproductive system neoplasm 7253
            reproductive organ cancer 6176
              sex cord-gonadal stromal tumor 39
                Leydig cell tumor + 15
                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