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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: germ cell cancers;   malignant tumor of the germ cell
 xref: 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 Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical OMIM
ClinVar
PMID:9536098 PMID:9671307 PMID:10521299 PMID:10739763 PMID:12226744 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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 ISS OMIM:166950 MouseDO NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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 chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO associated with Acrocephalosyndactylia (MeSH:D000168) RGD PMID:17243131 RGD:2289660 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:11720904 RGD:2290380 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar
RGD
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... RGD:2292181 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
JBrowse link
G Set Set nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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
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 chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
JBrowse link
G Ccna2 cyclin A2 ISO protein:increased expression:testis RGD PMID:14696091 RGD:2293346 NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
JBrowse link
G Chek2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:11720904 RGD:2290380 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO DNA:hypomethylation:promoter RGD PMID:17549357 PMID:18045648 RGD:2292433, RGD:2292431 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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 chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 8:110,511,808...110,597,489
Ensembl chr 8:110,511,772...110,597,489
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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 chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
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:19556464 PMID:21266384 PMID:24909177 PMID:25022261 PMID:25118636 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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 chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
JBrowse link
G Wnt2b Wnt family member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Ccnd2 cyclin D2 ISO RGD PMID:17167184 RGD:2296039 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 DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698
G Mgp matrix Gla protein ISO RGD PMID:1399132 RGD:2293578 NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16718353 RGD:2292236 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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 chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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 chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
JBrowse link
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole
CTD
ClinVar
PMID:25741868 NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Msh2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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 chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:19066229 PMID:21507883 PMID:24105752 NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 More... NCBI chr 1:69,614,744...69,622,570 JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 OMIM
ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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 chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1563323 similar to hypothetical protein FLJ22531 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar
PMID:25741868 PMID:30388401 NCBI chr 1:201,902,564...201,989,945 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:19571318 PMID:20694012 PMID:20955399 PMID:21901340 PMID:24033266 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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:23932590 PMID:24003026 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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 chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO 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 chr 4:178,185,418...178,218,484 JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,946
Ensembl chr 1:67,777,948...68,023,736
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:19571318 PMID:20694012 PMID:20955399 PMID:21901340 PMID:24033266 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO protein:increased expression:female gonad (human) RGD PMID:19295406 RGD:11556233 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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: Bilateral, annular limbal dermoids with corneal and conjunctival extension | ClinVar Annotator: match by term: Ring dermoid of cornea OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28166811 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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 chr 4:159,966,883...159,989,261
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 chr12:45,788,823...45,821,382
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 1:231,798,963...231,832,591
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 chr13:74,151,519...74,172,760
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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO RGD PMID:12379753 RGD:2289879 NCBI chr15:13,935,029...15,442,620
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 8:44,673,554...44,680,950
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 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Inha inhibin subunit alpha ISO RGD PMID:11720904 RGD:2290380 NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
JBrowse link
G Insr insulin receptor ISO RGD PMID:15967097 RGD:2290460 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
G Jup junction plakoglobin ISO RGD PMID:11956097 RGD:2291872 NCBI chr10:85,300,438...85,327,378
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 1:198,291,711...198,624,683
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO RGD PMID:8816895 RGD:2314915 NCBI chr 4:178,185,418...178,218,484 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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pdpn podoplanin ISO RGD PMID:17951198 RGD:2292234 NCBI chr 5:155,601,691...155,635,656
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 chr20:3,223,128...3,227,891
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 chr15:48,371,295...48,502,473
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 chr18:67,243,742...67,274,438
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 7:120,438,768...120,444,088
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 9:14,955,300...14,970,641
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 1:80,140,495...80,168,705
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...35,408,065
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:9207791 PMID:9677066 PMID:10471491 PMID:11055896 More... NCBI chr14:76,987,242...77,002,671
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:25157968 PMID:31775759 NCBI chr 1:196,290,127...196,299,823
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:25157968 PMID:31775759 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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 chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 IAGP compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316
JBrowse link
G Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant IAGP compared to WKY RGD PMID:22655094 RGD:40924659
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:18719115 RGD:2306169 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
JBrowse link
teratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17390059 RGD:2296025 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:10521301 RGD:2306183 NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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 chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr10:78,898,097...78,903,600
Ensembl chr10:78,897,770...78,903,538
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO RGD PMID:23575676 RGD:151660354 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tymp thymidine phosphorylase ISO protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Wnt2b Wnt family member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
JBrowse link
testicular germ cell cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO protein:increased expression:serum RGD PMID:12705339 RGD:2325706 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO Gestational Trophoblastic Neoplasms, MeSH:D031901 RGD PMID:16757546 RGD:2292132 NCBI chr13:44,774,823...44,780,707
Ensembl chr13:44,774,823...44,780,612
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of cellular proliferation 7349
      cancer 5363
        cell type cancer 3650
          germ cell cancer 98
            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 + 46
            germinoma + 41
            mixed germ cell cancer + 5
            ovarian germ cell cancer + 3
            seminoma + 30
            testicular germ cell cancer + 2
paths to the root