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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
 narrow_synonym: Male Germ Cell Tumor;   germ cell tumor
 primary_id: MESH:D018309
 alt_id: DOID:9008100
 xref: EFO:0000514;   EFO:1000953;   MESH:C564777


show annotations for term's descendants           Sort by:
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:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,672 		JBrowse link
G GPC3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607 		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 ClinVar
OMIM		 PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,786,897...21,807,162 		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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		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 chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		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 chr 2:1,469,183...1,496,417 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 chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		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 chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325 		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 5:18,642,212...18,648,859
Ensembl chr 5:18,642,823...18,648,848 		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 chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,854,668 		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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 1:269,050,447...269,064,462 JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		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 chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		JBrowse link
G CCNA2 cyclin A2 ISO protein:increased expression:testis RGD PMID:14696091 RGD:2293346 NCBI chr 8:102,260,346...102,266,274
Ensembl chr 8:102,260,215...102,266,309 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO DNA:hypomethylation:promoter RGD PMID:17549357 PMID:18045648 RGD:2292431 RGD:2292433 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 6:72,103,309...72,174,882 JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		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 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:35,768,013...35,891,013
Ensembl chr  X:35,768,017...35,814,833 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435 		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 chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		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 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750 		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:24728327 PMID:24909177 PMID:25022261 More... NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224 		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 chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
G WNT2B Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 4:107,906,141...107,923,343
Ensembl chr 4:107,903,502...107,921,118 		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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CCND2 cyclin D2 ISO RGD PMID:17167184 RGD:2296039 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G MGP matrix Gla protein ISO mRNA:increased expression:tumor RGD PMID:1399132 RGD:2293578 NCBI chr 5:57,665,272...57,669,360
Ensembl chr 5:57,665,248...57,669,764 		JBrowse link
G PDPN podoplanin ISO RGD PMID:16718353 RGD:2292236 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223 		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 chr 7:23,564,654...23,570,691 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 ISO RGD PMID:19359032 RGD:2315639 NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056 		JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr14:42,420,166...42,468,080
Ensembl chr14:42,420,177...42,468,058 		JBrowse link
G CTNNB1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G FANCF FA complementation group F susceptibility
disease_progression		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:11049141 RGD:2298508 NCBI chr 2:36,884,701...36,886,661
Ensembl chr 2:36,884,777...36,885,856 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) RGD PMID:11994539 PMID:15967102 RGD:2289157 RGD:2302176 NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 9:106,851,044...106,957,519
Ensembl chr 9:106,851,031...106,957,510 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr18:55,903,693...55,906,976
Ensembl chr18:55,903,699...55,906,945 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 ISO mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 1:29,625,786...29,753,619
Ensembl chr 1:29,745,114...29,753,602 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 8:82,907,557...82,987,909
Ensembl chr 8:82,908,527...82,968,994 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 2:138,287,635...138,344,092
Ensembl chr 2:138,287,710...138,344,762 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 5:29,450,442...29,543,913
Ensembl chr 5:29,450,442...29,543,913 		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 term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794 		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 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr12:18,474,367...18,514,993
Ensembl chr12:18,474,097...18,517,479 		JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:25741868 NCBI chr 1:52,996,706...52,999,074 JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,203...21,877,757 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 6:59,112,811...59,150,916 JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		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 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585 		JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 OMIM
ClinVar		 PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More... NCBI chr 6:59,112,811...59,150,916 JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KHDC3L KH domain containing 3 like, 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 1:52,996,706...52,999,074 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 5:6,785,957...6,870,599
Ensembl chr 5:6,800,961...6,871,625 		JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799 		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 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		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 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr 1:55,552,675...55,569,057
Ensembl chr 1:55,551,320...55,568,991 		JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:plasma, testis:observed in aged male Tig:Wistar rats RGD PMID:11545298 RGD:2290379 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 6:54,263,574...54,269,286 JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO DNA:transversion:CDS:1732G>C, amino acid D578H
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:10580072 PMID:11857565 PMID:15967102 RGD:2292537 RGD:2302176 NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO protein:increased expression:testis, leydig cell
mRNA:alternative form:testis		 RGD PMID:11920744 PMID:11994382 RGD:2298579 RGD:2298580 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr 7:17,451,367...17,463,771
Ensembl chr 7:17,451,367...17,463,710 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989 		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 chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		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 1:175,333,965...175,402,065
Ensembl chr 1:175,334,141...175,400,685 		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 chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,431...38,753,748 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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 6:60,375,670...60,418,908
Ensembl chr 6:60,379,623...60,409,465 		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 chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO protein:increased expression:female gonad (human) RGD PMID:19295406 RGD:11556233 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:53,084,310...53,103,190 		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 chr  X:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607 		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 chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		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 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290 		JBrowse link
G ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21519793 NCBI chr17:30,908,747...30,930,774
Ensembl chr17:30,908,252...30,934,083 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA, protein:decreased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716 		JBrowse link
G FASLG Fas ligand ISO mRNA, protein:increased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19855393 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		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 chr13:41,443,963...42,884,799
Ensembl chr13:41,443,965...42,392,817 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO mRNA:increased expression:tumor RGD PMID:15823405 RGD:2301683 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868 		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 chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		JBrowse link
G INSR insulin receptor ISO mRNA:decreased expression:tumor:isoform B RGD PMID:15967097 RGD:2290460 NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,104 		JBrowse link
G JUP junction plakoglobin ISO mRNA:increased expression:tumor:relative to normal tissue (p<0.01) RGD PMID:11956097 RGD:2291872 NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111 		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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:8816895 RGD:2314915 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G PCNA proliferating cell nuclear antigen disease_progression ISO RGD PMID:7474604 RGD:2315012 NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441 		JBrowse link
G PDPN podoplanin ISO RGD PMID:17951198 RGD:2292234 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 ISO mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors RGD PMID:11526504 RGD:2290002 NCBI chr 2:8,410,540...8,444,604
Ensembl chr 2:8,413,388...8,444,595 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO mRNA, protein:increased expression:testis
DNA:hypomethylation:promoter
protein:increased expression:chest		 RGD PMID:17549357 PMID:17785371 PMID:18162782 RGD:2292429 RGD:2292432 RGD:2292433 NCBI chr 7:23,564,654...23,570,691 JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,124,989 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G SMAD4 SMAD family member 4 ISO DNA, protein:insertion, decreased expression:1521insT RGD PMID:10706106 RGD:2299975 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO protein:increased expression:testis RGD PMID:19288744 RGD:2315467 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:16596238 RGD:2302576 NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729 		JBrowse link
G ZNF354A zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr 2:79,670,436...79,690,546
Ensembl chr 2:79,670,479...79,690,537 		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 reexpression in tumor derived cells eliminates the transformed phenotype RGD PMID:10602485 RGD:2290369 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		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 protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells RGD PMID:17414107 RGD:2290367 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		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:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021 		JBrowse link
G INHA inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr15:121,581,847...121,586,020
Ensembl chr15:121,580,803...121,586,006 		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 term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr 3:91,964,415...92,023,821
Ensembl chr 3:91,964,415...92,021,398 		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:8754806 PMID:9207791 PMID:9677066 PMID:10053006 More... NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		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 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		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 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		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 chr 8:69,677,690...69,698,864
Ensembl chr 8:69,677,690...69,698,864 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr 2:142,384,526...142,387,407
Ensembl chr 2:142,384,532...142,387,199 		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 chr 8:131,728,819...131,924,814
Ensembl chr 8:131,728,873...131,924,819 		JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 6:76,064,212...76,229,310
Ensembl chr 6:76,083,725...76,229,307 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17390059 RGD:2296025 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:16,186,206...16,220,948
Ensembl chr 2:16,186,206...16,220,940 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224 		JBrowse link
G CRIPTO cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr13:29,537,874...29,544,686
Ensembl chr13:29,540,314...29,543,893 		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 chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565 		JBrowse link
G ETNK1 ethanolamine kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:50,914,808...50,970,748
Ensembl chr 5:50,914,814...50,970,697 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604 		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 5:62,931,642...62,939,086
Ensembl chr 5:62,932,382...62,939,082 		JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,346...27,436,140 		JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr12:27,439,529...27,445,025
Ensembl chr12:27,439,260...27,445,027 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:36,137,644...36,228,075
Ensembl chr 4:36,209,164...36,228,073 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 6:148,851,183...148,918,891
Ensembl chr 6:148,851,183...148,994,952 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 1:83,003,622...83,029,392
Ensembl chr 1:83,003,604...83,029,897 		JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr13:138,962,634...139,108,499
Ensembl chr13:138,978,609...139,108,500 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO RGD PMID:23575676 RGD:151660354 NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289 		JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr12:51,602,228...51,868,180
Ensembl chr12:51,602,226...51,858,206 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr13:29,884,708...29,996,285
Ensembl chr13:29,884,719...29,996,359 		JBrowse link
G SLC45A3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 9:66,344,742...66,365,999
Ensembl chr 9:66,344,746...66,365,966 		JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr18:20,261,473...20,653,621
Ensembl chr18:20,261,476...20,653,590 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421 		JBrowse link
G TRRAP transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333 		JBrowse link
G WNT2B Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 4:107,906,141...107,923,343
Ensembl chr 4:107,903,502...107,921,118 		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 chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964 		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 chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327 		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 chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794 		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 chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17410
    disease of cellular proliferation 7147
      Neoplasms by Histologic Type 4987
        Gonadal Tissue Neoplasms 139
          germ cell benign neoplasm + 5
          germ cell cancer + 114
          gonadoblastoma + 0
          sex cord-gonadal stromal tumor + 38
paths to the root