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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:Gonadal Tissue Neoplasms
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Accession:DOID:9005959 term browser browse the term
Definition:Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells.
Synonyms:exact_synonym: Gonadal Tissue Neoplasm
 primary_id: MESH:D018309
 alt_id: RDO:0007132
For additional species annotation, visit the Alliance of Genome Resources.



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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 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ccnd2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Cmklr1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:42,974,462...43,027,321
Ensembl chr12:42,974,410...43,028,129
JBrowse link
G Ctnnb1 catenin beta 1 ISO
ISS
MouseDO
RGD
PMID:16488995 RGD:1643593 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
JBrowse link
G Fshr follicle stimulating hormone receptor ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO RGD PMID:15967102 PMID:11994539 RGD:2302176, RGD:2289157 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Prkar2b protein kinase cAMP-dependent type II regulatory subunit beta ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:11994539 RGD:2289157 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rarres2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 4:77,522,549...77,525,733
Ensembl chr 4:77,522,535...77,525,556
JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO RGD PMID:11994539 RGD:2289157 NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
JBrowse link
G Smad1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Smad5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr17:7,862,332...7,891,678
Ensembl chr17:7,864,720...7,891,634
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wif1 Wnt inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 7:56,548,058...56,618,364
Ensembl chr 7:56,548,053...56,618,360
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 null ClinVar PMID:2116665 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cga glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
JBrowse link
G Esr1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
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 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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 ClinVar Annotator: match by term: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
ClinVar Annotator: match by OMIM:138800
OMIM
ClinVar
PMID:6261577 PMID:9295070 PMID:9345104 PMID:18570301 PMID:19556464 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
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:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Inha inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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 null ClinVar PMID:10580072 PMID:11857565 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Histologic Type 4778
        Gonadal Tissue Neoplasms 39
          gonadoblastoma + 0
          sex cord-gonadal stromal tumor + 39
paths to the root