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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 IAGP ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G DERL3 derlin 3 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr22:23,834,503...23,839,006
Ensembl chr22:23,834,503...23,839,128 		JBrowse link
G GPC3 glypican 3 IEP protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
OMIM:609322
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Teratoid tumor, atypical		 ClinVar
OMIM
MouseDO
CTD		 PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		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 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G IGF2 insulin like growth factor 2 disease_progression IDA protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G INSR insulin receptor disease_progression IDA protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IEP DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		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 IEP protein:increased expression:ovary RGD PMID:17988723 RGD:2315651 NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP 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 chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G INHA inhibin subunit alpha IEP protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP DNA:transversion:CDS:2467G>C, amino acid D816H
ClinVar Annotator: match by term: Dysgerminoma		 ClinVar
RGD		 PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... RGD:2292181 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G POU5F1 POU class 5 homeobox 1 IEP RGD PMID:15371950 RGD:2292443 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		JBrowse link
G SET SET nuclear proto-oncogene IAGP ClinVar Annotator: match by term: Dysgerminoma ClinVar PMID:26822237 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IEP protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
embryonal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein IEP protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G CCNA2 cyclin A2 IEP protein:increased expression:testis RGD PMID:14696091 RGD:2293346 NCBI chr 4:121,816,444...121,823,883
Ensembl chr 4:121,816,444...121,823,883 		JBrowse link
G CHEK2 checkpoint kinase 2 IEP protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G FGF8 fibroblast growth factor 8 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G INHA inhibin subunit alpha IEP protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		JBrowse link
G POU5F1 POU class 5 homeobox 1 IDA
IEP		 DNA:hypomethylation:promoter RGD PMID:17549357 PMID:18045648 RGD:2292433, RGD:2292431 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		JBrowse link
G RB1 RB transcriptional corepressor 1 IEP protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G TNFRSF8 TNF receptor superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G BCOR BCL6 corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G MYOD1 myogenic differentiation 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011 PMID:26822237 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		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 IAGP
EXP		 ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19556464 PMID:21266384 PMID:24728327 PMID:24909177 PMID:25022261 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		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 IEP protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G CTNNB1 catenin beta 1 IEP 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 chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FGF8 fibroblast growth factor 8 IEP protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G SALL4 spalt like transcription factor 4 IEP protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G TNFSF8 TNF superfamily member 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
G WNT2B Wnt family member 2B IEP mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165 		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 IAGP DNA:missense mutation:exon:p.V600E (human) RGD PMID:19289622 RGD:2315865 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CCND2 cyclin D2 IEP RGD PMID:17167184 RGD:2296039 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP DNA:transition:exon:142G>A RGD PMID:9554401 RGD:2289698 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G MGP matrix Gla protein IEP mRNA:increased expression:tumor RGD PMID:1399132 RGD:2293578 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G PDPN podoplanin IEP RGD PMID:16718353 RGD:2292236 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Germinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		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 IEP RGD PMID:19359032 RGD:2315639 NCBI chr19:2,249,323...2,252,073
Ensembl chr19:2,249,309...2,252,073 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CCND2 cyclin D2 IEP mRNA:increased expression:ovary RGD PMID:11994539 RGD:2289157 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IEP RGD PMID:12203782 RGD:2296066 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IEP RGD PMID:12203782 RGD:2296066 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CMKLR1 chemerin chemokine-like receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr12:108,288,046...108,339,311
Ensembl chr12:108,288,044...108,339,317 		JBrowse link
G CTNNB1 catenin beta 1 ISO
ISS		 MouseDO
RGD		 PMID:16488995 RGD:1643593 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G FANCF FA complementation group F disease_progression
susceptibility		 IDA
ISO		 DNA:hypermethylation:promoter RGD PMID:15574200 PMID:21915857 RGD:2298508, RGD:11049141 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase IDA DNA:hypermethylation:promoter, ovary RGD PMID:15574200 RGD:2298508 NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459 		JBrowse link
G FSHR follicle stimulating hormone receptor IEP mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Granulosa cell tumor, somatic ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP mRNA:decreased expression:ovary RGD PMID:18028988 RGD:2302173 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LEPR leptin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:28861689 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO
IEP		 mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05) RGD PMID:15967102 PMID:11994539 RGD:2302176, RGD:2289157 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:14970867 RGD:2317693 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G PRKAR2B protein kinase cAMP-dependent type II regulatory subunit beta IEP mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 7:107,044,705...107,161,811
Ensembl chr 7:107,044,705...107,161,811 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RARRES2 retinoic acid receptor responder 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29653259 NCBI chr 7:150,338,329...150,341,629
Ensembl chr 7:150,338,317...150,341,662 		JBrowse link
G SGK1 serum/glucocorticoid regulated kinase 1 IEP mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01) RGD PMID:11994539 RGD:2289157 NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112 		JBrowse link
G SMAD1 SMAD family member 1 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176 		JBrowse link
G SMAD5 SMAD family member 5 ISO RGD PMID:17967875 RGD:2299978 NCBI chr 5:136,132,845...136,182,733
Ensembl chr 5:136,132,845...136,188,747 		JBrowse link
G ST14 ST14 transmembrane serine protease matriptase IEP protein:increased expression:ovary RGD PMID:16439987 RGD:2315091 NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362 		JBrowse link
G VEGFA vascular endothelial growth factor A IMP RGD PMID:19524286 RGD:2315463 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G WIF1 WNT inhibitory factor 1 ISO mRNA:increased expression:ovary RGD PMID:16488995 RGD:1643593 NCBI chr12:65,050,626...65,121,305
Ensembl chr12:65,050,626...65,121,305 		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 IAGP ClinVar Annotator: match by term: Granulosa cell tumor of the ovary ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		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 IEP protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IEP protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G KHDC3L KH domain containing 3 like, subcortical maternal complex member EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole		 CTD
ClinVar		 PMID:25741868 NCBI chr 6:73,362,658...73,364,171
Ensembl chr 6:73,362,658...73,364,171 		JBrowse link
G MLH1 mutL homolog 1 IDA DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MSH2 mutS homolog 2 IDA DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole		 CTD
ClinVar		 PMID:24033266 PMID:25741868 NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 IEP protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIR3DL1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:19066229 PMID:21507883 PMID:24105752 NCBI chr19:54,816,468...54,830,778
Ensembl chr19:54,816,468...54,830,778 		JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 More... NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140 		JBrowse link
G NLRP7 NLR family pyrin domain containing 7 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 OMIM
ClinVar		 PMID:2030859 PMID:10072436 PMID:10951527 PMID:11598368 PMID:12471053 More... NCBI chr19:54,923,515...54,966,243
Ensembl chr19:54,923,509...54,966,312 		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 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 ClinVar
OMIM		 PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr 6:73,362,658...73,364,171
Ensembl chr 6:73,362,658...73,364,171 		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 IAGP ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3
ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 3		 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr22:41,699,503...41,799,454
Ensembl chr22:41,699,503...41,799,456 		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 IAGP ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 4 OMIM
ClinVar		 PMID:25741868 PMID:30388401 NCBI chr11:66,744,736...66,843,516
Ensembl chr11:66,744,451...66,843,516 		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 chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		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 chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CGA glycoprotein hormones, alpha polypeptide IEP RGD PMID:16007123 RGD:2293633 NCBI chr 6:87,085,498...87,095,106
Ensembl chr 6:87,085,498...87,095,106 		JBrowse link
G ESR1 estrogen receptor 1 IEP protein:increased expression:testis RGD PMID:17656605 RGD:2290041 NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP RGD PMID:14517422 RGD:2301251 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G INHA inhibin subunit alpha ISO RGD PMID:11545298 RGD:2290379 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		JBrowse link
G LHB luteinizing hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:25289773 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LHCGR luteinizing hormone/choriogonadotropin receptor ISO
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:transversion:CDS:1732G>C, amino acid D578H		 CTD
RGD		 PMID:10580072 PMID:11857565 PMID:15967102 PMID:11857565 RGD:2302176, RGD:2292537 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G PDGFA platelet derived growth factor subunit A IEP protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296 		JBrowse link
G PDGFB platelet derived growth factor subunit B IEP protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IEP mRNA:alternative form:testis
protein:increased expression:testis, leydig cell		 RGD PMID:11920744 PMID:11994382 RGD:2298580, RGD:2298579 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IEP protein:increased expression:testis, leydig cell RGD PMID:11994382 RGD:2298579 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PRL prolactin EXP CTD Direct Evidence: therapeutic CTD PMID:4092719 NCBI chr 6:22,287,246...22,302,835
Ensembl chr 6:22,287,244...22,302,826 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 IEP protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		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 IAGP ClinVar Annotator: match by term: Malignant germ cell tumor of ovary ClinVar PMID:16199547 PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G FANCM FA complementation group M IAGP ClinVar Annotator: match by term: Malignant germ cell tumor of ovary ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		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 IAGP ClinVar Annotator: match by term: Oculoectodermal syndrome ClinVar PMID:26820066 NCBI chr16:3,495,427...3,539,048
Ensembl chr16:3,500,976...3,539,048 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Oculoectodermal syndrome
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		 ClinVar
OMIM		 PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome		 ClinVar PMID:20738330 PMID:26323243 NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		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 IAGP ClinVar Annotator: match by term: Ovarian germ cell cancer ClinVar PMID:16199547 PMID:19571318 PMID:20694012 PMID:20955399 PMID:21901340 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G SALL4 spalt like transcription factor 4 IEP protein:increased expression:female gonad (human) RGD PMID:19295406 RGD:11556233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		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 IEP protein:increased expression:placenta, trophoblast cells (human) RGD PMID:20868507 RGD:243065141 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		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 IAGP
EXP		 ClinVar Annotator: match by term: Ring dermoid of cornea
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bilateral, annular limbal dermoids with corneal and conjunctival extension		 ClinVar
CTD
OMIM		 PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 More... NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
seminoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND2 cyclin D2 IEP mRNA, protein:increased expression:testis RGD PMID:15747581 RGD:2289154 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CHEK2 checkpoint kinase 2 IEP protein:decreased expression:testis RGD PMID:11593395 RGD:2298484 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G ENTPD6 ectonucleoside triphosphate diphosphohydrolase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21519793 NCBI chr20:25,195,712...25,228,075
Ensembl chr20:25,195,693...25,228,075 		JBrowse link
G FAS Fas cell surface death receptor IEP mRNA, protein:decreased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IEP mRNA, protein:increased expression:testis RGD PMID:17916181 RGD:2290049 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19855393 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FHIT fragile histidine triad diadenosine triphosphatase IEP 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 chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459 		JBrowse link
G HMBS hydroxymethylbilane synthase IEP mRNA:increased expression:tumor RGD PMID:15823405 RGD:2301683 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP
EXP		 DNA:mutations: :multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19855393 PMID:19855393 RGD:2314832 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G INHA inhibin subunit alpha IEP protein:increased expression:tumor RGD PMID:11720904 RGD:2290380 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		JBrowse link
G INSR insulin receptor IEP mRNA:decreased expression:tumor:isoform B RGD PMID:15967097 RGD:2290460 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G JUP junction plakoglobin IEP mRNA:increased expression:tumor:relative to normal tissue (p<0.01) RGD PMID:11956097 RGD:2291872 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 IEP RGD PMID:15389592 RGD:1580497 NCBI chr21:34,446,688...34,512,210
Ensembl chr21:34,446,688...34,512,214 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IEP RGD PMID:15389592 RGD:1580497 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP DNA:transversion:CDS:2467G>C, amino acid D816H RGD PMID:10362788 RGD:2292181 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP RGD PMID:8816895 RGD:2314915 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G PCNA proliferating cell nuclear antigen disease_progression IEP RGD PMID:7474604 RGD:2315012 NCBI chr20:5,114,953...5,126,622
Ensembl chr20:5,114,953...5,126,626 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IEP mRNA:splice variant:testis RGD PMID:8610136 RGD:2292154 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDPN podoplanin IEP RGD PMID:17951198 RGD:2292234 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IEP 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 chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G POU5F1 POU class 5 homeobox 1 IDA
IEP		 DNA:hypomethylation:promoter
protein:increased expression:chest
mRNA, protein:increased expression:testis		 RGD PMID:17549357 PMID:18162782 PMID:17785371 RGD:2292433, RGD:2292429, RGD:2292432 NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731 		JBrowse link
G PRMT5 protein arginine methyltransferase 5 IEP protein:altered localization RGD PMID:17437848 RGD:2299953 NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408 		JBrowse link
G RB1 RB transcriptional corepressor 1 IEP protein:decreased expression:testis RGD PMID:12754735 RGD:2299891 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G SMAD4 SMAD family member 4 IAGP DNA, protein:insertion, decreased expression:1521insT RGD PMID:10706106 RGD:2299975 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G TSPY1 testis specific protein Y-linked 1 IEP protein:increased expression:testis RGD PMID:17521702 RGD:2315445 NCBI chr  Y:9,466,955...9,469,749
Ensembl chr  Y:9,466,955...9,469,749 		JBrowse link
G TYMP thymidine phosphorylase IEP protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression IEP protein:increased expression:testis RGD PMID:19288744 RGD:2315467 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:polymorphism: :p.R399Q RGD PMID:16596238 RGD:2302576 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZNF354A zinc finger protein 354A IEP mRNA:increased expression:testis RGD PMID:9788609 RGD:2291889 NCBI chr 5:178,711,512...178,730,659
Ensembl chr 5:178,711,512...178,730,659 		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 RGD PMID:10602485 RGD:2290369 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		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 IEP protein:increased expression:tumor:focal expression in Sertoli cells, stronger diffuse expression in Leydig cells RGD PMID:17414107 RGD:2290367 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		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 IAGP ClinVar Annotator: match by term: Sex cord-stromal tumor ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G INHA inhibin subunit alpha susceptibility ISO RGD PMID:8090730 RGD:2301690 NCBI chr 2:219,572,310...219,575,711
Ensembl chr 2:219,569,162...219,575,711 		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 IAGP ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr 2:48,686,774...48,755,724
Ensembl chr 2:48,686,774...48,755,730 		JBrowse link
G STON1-GTF2A1L STON1-GTF2A1L readthrough IAGP ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty ClinVar PMID:10580072 PMID:11857565 NCBI chr 2:48,529,925...48,776,519
Ensembl chr 2:48,529,925...48,776,517 		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 IAGP ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:7773297 PMID:8754806 PMID:9207791 PMID:9677066 PMID:10053006 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Spermatocytic seminoma ClinVar PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFP alpha fetoprotein IEP protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chr 4:73,436,221...73,456,174
Ensembl chr 4:73,431,138...73,456,174 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576 		JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:18719115 RGD:2306169 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		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 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:86,935,011...87,141,039
Ensembl chr 4:86,935,002...87,141,039 		JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:17,513,435...17,697,875
Ensembl chr 1:17,539,698...17,697,874 		JBrowse link
G BAX BCL2 associated X, apoptosis regulator disease_progression IEP RGD PMID:17390059 RGD:2296025 NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPTO cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457 		JBrowse link
G CTNNB1 catenin beta 1 IEP 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 chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G ETNK1 ethanolamine kinase 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr12:22,625,171...22,690,665
Ensembl chr12:22,625,075...22,690,665 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IDA RGD PMID:10521301 RGD:2306183 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LATS1 large tumor suppressor kinase 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105 		JBrowse link
G LOC126862230 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:93523977-93525176 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr15:92,980,747...92,981,946 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 chr12:7,789,402...7,799,146
Ensembl chr12:7,787,794...7,799,146 		JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 IAGP DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428 		JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 IAGP DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr17:51,165,536...51,171,744
Ensembl chr17:51,165,435...51,171,744 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 8:100,702,916...100,722,088
Ensembl chr 8:100,685,816...100,722,809 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP RGD PMID:5259759 RGD:2299871 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP RGD PMID:5259759 RGD:2299871 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G POLQ DNA polymerase theta IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:121,431,431...121,545,988
Ensembl chr 3:121,431,431...121,545,988 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO RGD PMID:23575676 RGD:151660354 NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440 		JBrowse link
G RABEP1 rabaptin, RAB GTPase binding effector protein 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr17:5,282,284...5,386,340
Ensembl chr17:5,282,265...5,386,340 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SLC45A3 solute carrier family 45 member 3 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:205,657,851...205,680,509
Ensembl chr 1:205,657,851...205,680,509 		JBrowse link
G SND1 staphylococcal nuclease and tudor domain containing 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:127,652,194...128,092,593
Ensembl chr 7:127,652,194...128,092,609 		JBrowse link
G SSX1 SSX family member 1 IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038 		JBrowse link
G TERT telomerase reverse transcriptase IEP mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TYMP thymidine phosphorylase IEP protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G WNT2B Wnt family member 2B IEP mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165 		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 IAGP ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:7647778 PMID:8723106 PMID:8841188 PMID:9042914 PMID:9107244 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar PMID:7530509 PMID:9438854 PMID:10362788 PMID:11276010 PMID:15790786 More... NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Germ cell tumor of testis ClinVar NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		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 IAGP ClinVar Annotator: match by term: Thecoma, somatic ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANG angiogenin IEP protein:increased expression:serum RGD PMID:12705339 RGD:2325706 NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IEP 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 chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 29219
    disease of cellular proliferation 9026
      Neoplasms by Histologic Type 5954
        Gonadal Tissue Neoplasms 147
          germ cell benign neoplasm + 5
          germ cell cancer + 121
          gonadoblastoma + 0
          sex cord-gonadal stromal tumor + 39
paths to the root