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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:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400 		JBrowse link
G GPC3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:104,313,426...104,751,215
Ensembl chr  X:104,313,591...104,751,756 		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 chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783 		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 chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		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 chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288 		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 chr12:65,552,455...65,673,467
Ensembl chr12:65,552,310...65,670,198 		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 chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533 		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 chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494 		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 chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO RGD PMID:15371950 RGD:2292443
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 9:54,896,464...54,907,698 JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		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 chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G CCNA2 cyclin A2 ISO protein:increased expression:testis RGD PMID:14696091 RGD:2293346 NCBI chr19:18,317,866...18,324,592
Ensembl chr19:18,318,004...18,323,691 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G POU5F1 POU class 5 homeobox 1 ISO DNA:hypomethylation:promoter RGD PMID:17549357 PMID:18045648 RGD:2292431 RGD:2292433
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355 		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 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712 		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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251 		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 chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006 		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 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879 		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 chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355 		JBrowse link
G WNT2B Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr17:63,034,719...63,054,369
Ensembl chr17:63,035,883...63,047,956 		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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G CCND2 cyclin D2 ISO RGD PMID:17167184 RGD:2296039 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G MGP matrix Gla protein ISO mRNA:increased expression:tumor RGD PMID:1399132 RGD:2293578 NCBI chr27:31,735,301...31,738,673
Ensembl chr27:31,734,660...31,738,673 		JBrowse link
G PDPN podoplanin ISO RGD PMID:16718353 RGD:2292236 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		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
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 chr20:56,785,960...56,788,815 JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G CCND2 cyclin D2 ISO mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:12203782 RGD:2296066 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO RGD PMID:12203782 RGD:2296066 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr26:18,487,700...18,539,678
Ensembl chr26:18,532,479...18,533,576 		JBrowse link
G CTNNB1 catenin beta 1 ISO RGD
MouseDO		 PMID:16488995 RGD:1643593 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G FANCF FA complementation group F disease_progression
susceptibility		 ISO DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:11049141 RGD:2298508 NCBI chr21:44,253,308...44,256,221
Ensembl chr21:44,255,134...44,256,618 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase ISO DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859 		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 chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G LEPR leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		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 chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		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 chr18:13,375,216...13,467,811
Ensembl chr18:13,376,425...13,468,038 		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 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr16:14,671,345...14,675,000
Ensembl chr16:14,671,130...14,674,926 		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 1:27,086,431...27,196,601
Ensembl chr 1:27,087,361...27,196,521 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr11:24,027,603...24,082,673
Ensembl chr11:24,028,126...24,078,169 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr 5:4,652,493...4,666,728
Ensembl chr 5:4,651,863...4,691,069 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:19524286 RGD:2315463 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr10:7,659,277...7,726,175
Ensembl chr10:7,659,491...7,726,859 		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 chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		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 chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr 9:18,585,918...18,631,743
Ensembl chr 9:18,585,971...18,635,570 		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 chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943 		JBrowse link
G MLH1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MSH2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		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 chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		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 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620 		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 chr12:35,434,123...35,435,679
Ensembl chr12:35,434,123...35,468,943 		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 chr10:23,533,749...23,606,875
Ensembl chr10:23,518,214...23,606,816 		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 chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943 		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 chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		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 chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide ISO RGD PMID:16007123 RGD:2293633 NCBI chr12:46,610,801...46,629,322
Ensembl chr12:46,610,973...46,636,640 		JBrowse link
G ESR1 estrogen receptor 1 ISO protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:14517422 RGD:2301251 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621 		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 chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G LHB luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr 1:107,382,855...107,384,029 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 chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:alternative form:testis
protein:increased expression:testis, leydig cell		 RGD PMID:11920744 PMID:11994382 RGD:2298579 RGD:2298580 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456 		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 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		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 8:22,561,862...22,625,077
Ensembl chr 8:22,562,147...22,623,994 		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 6:37,708,258...37,746,361
Ensembl chr 6:37,708,089...37,746,398 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		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 1:101,813,449...101,842,643
Ensembl chr 1:101,813,449...101,842,633 		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 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO protein:increased expression:female gonad (human) RGD PMID:19295406 RGD:11556233 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287 		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:104,313,426...104,751,215
Ensembl chr  X:104,313,591...104,751,756 		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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		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 chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21519793 NCBI chr23:1,374,793...1,422,625
Ensembl chr23:1,374,199...1,420,802 		JBrowse link
G FAS Fas cell surface death receptor ISO mRNA, protein:decreased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FASLG Fas ligand ISO mRNA, protein:increased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19855393 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 chr20:29,735,380...31,113,859
Ensembl chr20:30,356,572...31,113,859 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO mRNA:increased expression:tumor RGD PMID:15823405 RGD:2301683 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO DNA:mutations: :multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19855393 RGD:2314832 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G INHA inhibin subunit alpha ISO protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		JBrowse link
G INSR insulin receptor ISO mRNA:decreased expression:tumor:isoform B RGD PMID:15967097 RGD:2290460 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G JUP junction plakoglobin ISO mRNA:increased expression:tumor:relative to normal tissue (p<0.01) RGD PMID:11956097 RGD:2291872 NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chr31:29,858,428...29,868,315 JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO RGD PMID:15389592 RGD:1580497 NCBI chr18:46,554,390...46,830,533
Ensembl chr18:46,518,908...46,830,043 		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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO RGD PMID:8816895 RGD:2314915 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G PCNA proliferating cell nuclear antigen disease_progression ISO RGD PMID:7474604 RGD:2315012 NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PDPN podoplanin ISO RGD PMID:17951198 RGD:2292234 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375 		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 chr18:53,367,441...53,412,165
Ensembl chr18:53,368,030...53,398,290 		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
G PRMT5 protein arginine methyltransferase 5 ISO protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr 8:3,248,349...3,257,567
Ensembl chr 8:3,248,404...3,257,456 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G SMAD4 SMAD family member 4 ISO DNA, protein:insertion, decreased expression:1521insT RGD PMID:10706106 RGD:2299975 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO protein:increased expression:testis RGD PMID:19288744 RGD:2315467 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:16596238 RGD:2302576 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816 		JBrowse link
G ZNF354A zinc finger protein 354A ISO mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr11:2,897,998...2,918,304
Ensembl chr11:2,898,234...2,917,725 		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 chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		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 chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		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 chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657 		JBrowse link
G INHA inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr37:26,080,465...26,083,570
Ensembl chr37:26,080,510...26,083,391 		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 GTF2A1L general transcription factor IIA subunit 1 like ISO ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr10:50,488,530...50,533,526
Ensembl chr10:50,488,530...50,533,516 		JBrowse link
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 chr10:50,540,706...50,594,336
Ensembl chr10:50,541,960...50,598,036 		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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		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 chr13:62,182,876...62,203,414
Ensembl chr13:62,053,814...62,294,709 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840 		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 chr32:10,430,159...10,631,305
Ensembl chr32:10,430,090...10,632,172 		JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:80,666,992...80,827,032
Ensembl chr 2:80,642,298...80,808,567 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17390059 RGD:2296025 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr18:43,138,779...43,173,535
Ensembl chr18:43,139,453...43,173,420 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CRIPTO cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr20:42,137,939...42,140,590 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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G ETNK1 ethanolamine kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr27:24,561,708...24,624,794
Ensembl chr27:24,567,318...24,624,797 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609 		JBrowse link
G LOC612524 putative protein SSX6 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr  X:41,676,082...41,687,062 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 chr27:37,262,558...37,266,449 JBrowse link
G NME1 non-metastatic cells 1, protein (NM23A) expressed in ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr 9:26,990,336...26,998,895
Ensembl chr 9:26,990,469...26,998,955 		JBrowse link
G NME2 non-metastatic cells 2, protein (NM23B) expressed in ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr 9:27,002,114...27,005,740
Ensembl chr 9:27,001,733...27,015,934 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr13:2,563,698...2,580,610
Ensembl chr13:2,564,065...2,580,368 		JBrowse link
G PGM1 phosphoglucomutase 1 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 5:46,444,433...46,577,621
Ensembl chr 5:46,515,295...46,577,622 		JBrowse link
G PGM3 phosphoglucomutase 3 ISO RGD PMID:5259759 RGD:2299871 NCBI chr12:43,582,472...43,611,583
Ensembl chr12:43,584,940...43,611,777 		JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr33:24,713,174...24,837,113
Ensembl chr33:24,714,086...24,837,402 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO RGD PMID:23575676 RGD:151660354 NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435 		JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:31,390,873...31,442,585
Ensembl chr 5:31,391,576...31,491,506 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612 		JBrowse link
G SLC45A3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr38:2,110,209...2,130,233
Ensembl chr38:2,078,008...2,125,069 		JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr14:8,265,051...8,685,864
Ensembl chr14:8,265,358...8,731,453 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TRRAP transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776 		JBrowse link
G WNT2B Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr17:63,034,719...63,054,369
Ensembl chr17:63,035,883...63,047,956 		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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		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 chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		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 chr38:768,333...774,328
Ensembl chr38:768,585...773,382 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17763
    disease of cellular proliferation 7258
      Neoplasms by Histologic Type 5066
        Gonadal Tissue Neoplasms 140
          germ cell benign neoplasm + 5
          germ cell cancer + 114
          gonadoblastoma + 0
          sex cord-gonadal stromal tumor + 39
paths to the root