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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:germ cell cancer
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Accession:DOID:2994 term browser browse the term
Definition:A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)
Synonyms:exact_synonym: EFO:0000514;   germ cell cancers;   malignant tumor of the germ cell
 xref: EFO:0000514;   EFO:1000352;   NCI:C3708
For additional species annotation, visit the Alliance of Genome Resources.


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atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chrNW_004624797:13,234,741...13,678,542
Ensembl chrNW_004624797:13,230,932...13,678,742
JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Teratoid tumor, atypical ClinVar PMID:25741868 NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
JBrowse link
G Igf2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
JBrowse link
G Insr insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISO OMIM:166950 MouseDO NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374
JBrowse link
dysgerminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chrNW_004624904:1,520,450...1,535,291
Ensembl chrNW_004624904:1,520,572...1,530,908
JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia/Apert Syndrome (MeSH:D000168); DNA:transversion,duplication:cds:758C>G amino acid P253R, duplication of 10q26 resulting in one extra copy of FGFR2 RGD PMID:17243131 RGD:2289660 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529
JBrowse link
G Inha inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chrNW_004624760:6,293,452...6,304,237 JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547
JBrowse link
embryonal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha fetoprotein ISO protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chrNW_004624735:34,072,257...34,092,540
Ensembl chrNW_004624735:34,072,192...34,092,604
JBrowse link
G Ccna2 cyclin A2 ISO protein:increased expression:testis RGD PMID:14696091 RGD:2293346 NCBI chrNW_004624777:2,097,002...2,104,244 JBrowse link
G Chek2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
JBrowse link
G Inha inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO DNA:hypomethylation:promoter RGD PMID:17549357 PMID:18045648 RGD:2292431 RGD:2292433 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chrNW_004624818:957,597...996,565 JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chrNW_004624804:7,477,046...7,533,322
Ensembl chrNW_004624804:7,492,799...7,533,408
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326
JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26619011 PMID:26822237 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004624878:621,214...776,363 JBrowse link
Embryonal Rhabdomyosarcoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a18 solute carrier family 22 member 18 ISO OMIM NCBI chrNW_004624767:15,653,083...15,677,691
Ensembl chrNW_004624767:15,653,047...15,677,640
JBrowse link
Embryonal Rhabdomyosarcoma 2 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: Rhabdomyosarcoma, embryonal, 2 OMIM
ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 More... NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819
JBrowse link
endodermal sinus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha fetoprotein ISO protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chrNW_004624735:34,072,257...34,092,540
Ensembl chrNW_004624735:34,072,192...34,092,604
JBrowse link
G Ctnnb1 catenin beta 1 ISO mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors RGD PMID:16822086 RGD:2298800 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
JBrowse link
G Sall4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
JBrowse link
G Wnt2b Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chrNW_004624772:8,305,042...8,319,882
Ensembl chrNW_004624772:8,304,708...8,319,349
JBrowse link
germinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:missense mutation:exon:p.V600E (human) RGD PMID:19289622 RGD:2315865 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:17167184 RGD:2296039 NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
JBrowse link
G Mgp matrix Gla protein ISO mRNA:increased expression:tumor RGD PMID:1399132 RGD:2293578 NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16718353 RGD:2292236 NCBI chrNW_004624764:163,370...192,770 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389
JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou5f1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
Hydatidiform Mole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cga glycoprotein hormones, alpha polypeptide ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chrNW_004624799:7,249,502...7,265,662
Ensembl chrNW_004624799:7,249,586...7,265,999
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chrNW_004624795:407,228...435,578
Ensembl chrNW_004624795:407,598...438,734
JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
JBrowse link
G Msh2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 OMIM
ClinVar
PMID:25741868 PMID:30388401 NCBI chrNW_004624752:6,885,606...6,958,109 JBrowse link
malignant ovarian germ cell neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Malignant germ cell tumor of ovary ClinVar PMID:16199547 PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Malignant germ cell tumor of ovary ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23409019 PMID:23932590 More... NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
JBrowse link
ovarian germ cell cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Ovarian germ cell cancer ClinVar PMID:16199547 PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
JBrowse link
G Sall4 spalt like transcription factor 4 ISO protein:increased expression:female gonad (human) RGD PMID:19295406 RGD:11556233 NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923
JBrowse link
placental site trophoblastic tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO protein:increased expression:placenta, trophoblast cells (human) RGD PMID:20868507 RGD:243065141 NCBI chrNW_004624797:13,234,741...13,678,542
Ensembl chrNW_004624797:13,230,932...13,678,742
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Ring dermoid of cornea OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 More... NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384
JBrowse link
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 chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
JBrowse link
G Chek2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
JBrowse link
G Entpd6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21519793 NCBI chrNW_004624939:313,763...333,640
Ensembl chrNW_004624939:313,768...333,694
JBrowse link
G Fas Fas cell surface death receptor ISO mRNA, protein:decreased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
JBrowse link
G Faslg Fas ligand ISO mRNA, protein:increased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19855393 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues RGD PMID:12379753 RGD:2289879 NCBI chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO mRNA:increased expression:tumor RGD PMID:15823405 RGD:2301683 NCBI chrNW_004624784:14,467,515...14,474,954
Ensembl chrNW_004624784:14,467,533...14,474,954
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple (human)
CTD
RGD
PMID:19855393 RGD:2314832 NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
JBrowse link
G Inha inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
JBrowse link
G Insr insulin receptor ISO mRNA:decreased expression:tumor:isoform B RGD PMID:15967097 RGD:2290460 NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
JBrowse link
G Jup junction plakoglobin ISO mRNA:increased expression:tumor:relative to normal tissue (p<0.01) RGD PMID:11956097 RGD:2291872 NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018
JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chrNW_004624745:22,624,414...22,631,625
Ensembl chrNW_004624745:22,624,765...22,631,609
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO DNA:transversion:CDS:2467G>C, amino acid D816H RGD PMID:10362788 RGD:2292181 NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:8816895 RGD:2314915 NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
JBrowse link
G Pcna proliferating cell nuclear antigen disease_progression ISO RGD PMID:7474604 RGD:2315012 NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
JBrowse link
G Pdpn podoplanin ISO RGD PMID:17951198 RGD:2292234 NCBI chrNW_004624764:163,370...192,770 JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO DNA:hypomethylation:promoter
protein:increased expression:chest
mRNA, protein:increased expression:testis
RGD PMID:17549357 PMID:17785371 PMID:18162782 RGD:2292429 RGD:2292432 RGD:2292433 NCBI chrNW_004624754:24,758,055...24,764,723 JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
JBrowse link
G Smad4 SMAD family member 4 ISO DNA, protein:insertion, decreased expression:1521insT RGD PMID:10706106 RGD:2299975 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
JBrowse link
G Tymp thymidine phosphorylase ISO protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO protein:increased expression:testis RGD PMID:19288744 RGD:2315467 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:16596238 RGD:2302576 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
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 chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25157968 PMID:25741868 PMID:31775759 NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25157968 PMID:25741868 PMID:31775759 NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha fetoprotein ISO protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chrNW_004624735:34,072,257...34,092,540
Ensembl chrNW_004624735:34,072,192...34,092,604
JBrowse link
G Dab2 DAB adaptor protein 2 ISO ClinVar Annotator: match by term: Teratocarcinoma ClinVar PMID:25741868 NCBI chrNW_004624759:15,459,436...15,520,225
Ensembl chrNW_004624759:15,459,288...15,520,924
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chrNW_004624743:33,421,810...33,424,515
Ensembl chrNW_004624743:33,421,810...33,424,635
JBrowse link
teratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff1 ALF transcription elongation factor 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624872:3,486,242...3,656,089
Ensembl chrNW_004624872:3,486,135...3,651,098
JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624764:2,992,344...3,126,131
Ensembl chrNW_004624764:3,007,216...3,126,298
JBrowse link
G Bax BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17390059 RGD:2296025 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624767:2,215,850...2,247,470
Ensembl chrNW_004624767:2,215,558...2,247,509
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
JBrowse link
G Cripto cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chrNW_004624730:74,547,226...74,550,526 JBrowse link
G Ctnnb1 catenin beta 1 ISO mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors RGD PMID:16822086 RGD:2298800 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624784:14,142,051...14,178,845
Ensembl chrNW_004624784:14,142,051...14,178,868
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
JBrowse link
G Etnk1 ethanolamine kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624752:16,134,295...16,196,406
Ensembl chrNW_004624752:16,139,202...16,196,389
JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624785:8,356,238...8,405,877
Ensembl chrNW_004624785:8,369,922...8,408,919
JBrowse link
G Nanog Nanog homeobox severity ISO mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell RGD PMID:20817694 RGD:9681441 NCBI chrNW_004624860:5,026,203...5,037,219 JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624763:7,552,541...7,568,047
Ensembl chrNW_004624763:7,550,307...7,567,918
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO RGD PMID:5259759 RGD:2299871 NCBI chrNW_004624742:30,543,161...30,592,117
Ensembl chrNW_004624742:30,542,448...30,592,162
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:5259759 RGD:2299871 NCBI chrNW_004624799:11,395,465...11,423,878
Ensembl chrNW_004624799:11,395,615...11,423,876
JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624731:26,649,606...26,808,098
Ensembl chrNW_004624731:26,649,727...26,807,222
JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO RGD PMID:23575676 RGD:151660354 NCBI chrNW_004624750:27,188,858...27,320,470
Ensembl chrNW_004624750:27,188,729...27,316,150
JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624786:9,060,953...9,191,767
Ensembl chrNW_004624786:9,060,895...9,191,767
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
JBrowse link
G Slc45a3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624807:5,564,530...5,583,638
Ensembl chrNW_004624807:5,564,545...5,583,816
JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624783:7,874,701...8,311,622
Ensembl chrNW_004624783:7,845,945...8,311,823
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chrNW_004624875:4,425,486...4,477,338
Ensembl chrNW_004624875:4,425,418...4,477,909
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Trrap transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Teratoma ClinVar PMID:25741868 NCBI chrNW_004624740:32,349,521...32,472,240
Ensembl chrNW_004624740:32,349,568...32,472,308
JBrowse link
G Tymp thymidine phosphorylase ISO protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
JBrowse link
G Wnt2b Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chrNW_004624772:8,305,042...8,319,882
Ensembl chrNW_004624772:8,304,708...8,319,349
JBrowse link
testicular germ cell cancer 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: Germ cell tumor of testis ClinVar PMID:7647778 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:7530509 PMID:9438854 PMID:10362788 PMID:11276010 PMID:15790786 More... NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
JBrowse link
trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1 KiSS-1 metastasis suppressor ISO Gestational Trophoblastic Neoplasms, MeSH:D031901; protein:increased expression:plasma:pre-chemotherapy levels significantly elevated vs normal or post-chemotherapy (p<0.0001) RGD PMID:16757546 RGD:2292132 NCBI chrNW_004624807:6,800,144...6,805,555
Ensembl chrNW_004624807:6,803,265...6,805,433
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14171
    disease of cellular proliferation 6753
      cancer 4941
        cell type cancer 3382
          germ cell cancer 103
            central nervous system germ cell tumor + 0
            childhood germ cell cancer + 0
            embryonal cancer + 20
            endodermal sinus tumor + 6
            extragonadal germ cell cancer + 0
            fallopian tube germ cell cancer + 0
            germ cell and embryonal cancer + 58
            germinoma + 35
            mixed germ cell cancer + 3
            ovarian germ cell cancer + 3
            seminoma + 27
            testicular germ cell cancer + 3
paths to the root