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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:seminoma
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Accession:DOID:4440 term browser browse the term
Definition:A germinoma that has_material_basis_in cells that make sperm and eggs. (DO)
Synonyms:exact_synonym: pure seminoma;   seminomas
 primary_id: MESH:D018239
 xref: ICDO:9061/3
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
seminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd2 cyclin D2 ISO mRNA, protein:increased expression:testis RGD PMID:15747581 RGD:2289154 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Chek2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21519793 NCBI chr 3:139,575,659...139,598,163
Ensembl chr 3:139,575,686...139,598,154 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA, protein:decreased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand ISO mRNA, protein:increased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19855393 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO RGD PMID:12379753 RGD:2289879 NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO mRNA:increased expression:tumor (human) RGD PMID:15823405 RGD:2301683 NCBI chr 8:53,570,364...53,577,758
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO DNA:mutations: :multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19855393 PMID:19855393 RGD:2314832 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:11720904 RGD:2290380 NCBI chr 9:84,443,109...84,446,010
Ensembl chr 9:76,993,589...76,997,248 		JBrowse link
G Insr insulin receptor ISO RGD PMID:15967097 RGD:2290460 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Jup junction plakoglobin ISO RGD PMID:11956097 RGD:2291872 NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:10362788 RGD:2292181 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:8816895 RGD:2314915 NCBI chr 4:179,916,255...179,949,613 JBrowse link
G Pcna proliferating cell nuclear antigen disease_progression ISO RGD PMID:7474604 RGD:2315012 NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pdpn podoplanin ISO RGD PMID:17951198 RGD:2292234 NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656 		JBrowse link
G Plaat3 phospholipase A and acyltransferase 3 ISO RGD PMID:11526504 RGD:2290002 NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO protein:increased expression:chest
DNA:hypomethylation:promoter
mRNA, protein:increased expression:testis		 RGD PMID:18162782 PMID:17549357 PMID:17785371 RGD:2292429, RGD:2292433, RGD:2292432 NCBI chr20:3,227,836...3,232,598
Ensembl chr20:3,223,129...3,227,891 		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
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Smad4 SMAD family member 4 ISO DNA, protein:insertion, decreased expression:1521insT RGD PMID:10706106 RGD:2299975 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Tspy1 testis specific protein, Y-linked 1 ISO protein:increased expression:testis RGD PMID:17521702 RGD:2315445
G Tymp thymidine phosphorylase ISO protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO protein:increased expression:testis RGD PMID:19288744 RGD:2315467 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:16596238 RGD:2302576 NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Zfp354a zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068 		JBrowse link
spermatocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:7773297 PMID:8599935 PMID:8754806 PMID:9207791 PMID:9677066 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759 NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of cellular proliferation 7891
      cancer 5722
        cell type cancer 3783
          germ cell cancer 122
            seminoma 30
              extragonadal seminoma 0
              mediastinum seminoma 0
              spermatocytoma + 3
              testis seminoma + 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        central nervous system disease 12627
          brain disease 11847
            Brain Neoplasms 1329
              brain cancer 715
                germinoma 41
                  seminoma 30
                    extragonadal seminoma 0
                    mediastinum seminoma 0
                    spermatocytoma + 3
                    testis seminoma + 0
paths to the root