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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:Testicular Neoplasms
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Accession:DOID:9004207 term browser browse the term
Definition:Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms.
Synonyms:exact_synonym: Rete Testis Tumor;   Rete Testis Tumors;   Testicular Neoplasm;   Testicular Tumors;   Testis Neoplasms;   neoplasm of testis;   testis neoplasm;   tumor of rete testis
 primary_id: MESH:D013736
 alt_id: RDO:0006682
 xref: EFO:0004281


show annotations for term's descendants           Sort by:
Testicular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12 arachidonate 12-lipoxygenase, 12S type IEP protein:increased expression:testis RGD PMID:14767568 RGD:2315609 NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754 		JBrowse link
G ATF7IP activating transcription factor 7 interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:20543847 NCBI chr12:14,365,682...14,502,930
Ensembl chr12:14,365,676...14,502,931 		JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G CCNA1 cyclin A1 IEP mRNA:decreased expression:testis (human) RGD PMID:15800920 RGD:2289152 NCBI chr13:36,431,517...36,442,870
Ensembl chr13:36,431,520...36,442,870 		JBrowse link
G CCND2 cyclin D2 IEP mRNA:increased expression:testis RGD PMID:15800920 RGD:2289152 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:decreased expression:testis RGD PMID:11376116 RGD:2293610 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G DMRT1 doublesex and mab-3 related transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20543847 NCBI chr 9:841,697...969,090
Ensembl chr 9:841,690...969,090 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19956886 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:19956886 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33172093 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP DNA:deletion RGD PMID:18162130 RGD:2293826 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G KITLG KIT ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:19483681 PMID:19483682 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		JBrowse link
G KLK10 kallikrein related peptidase 10 IEP mRNA, protein:decreased expression:testis RGD PMID:11920956 RGD:2314851 NCBI chr19:51,012,739...51,020,097
Ensembl chr19:51,012,739...51,020,175 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:12483540 RGD:2317686 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		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 PLAAT3 phospholipase A and acyltransferase 3 IEP non-seminoma testicular germ cell tumors; 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 RNF4 ring finger protein 4 IEP mRNA:decreased expression:testes (human) RGD PMID:14644130 RGD:9831408 NCBI chr 4:2,469,106...2,515,857
Ensembl chr 4:2,462,220...2,515,857 		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
Nonseminomatous Germ Cell Tumor 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 ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		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:8599935 PMID:8754806 PMID:9207791 PMID:9677066 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
testicular cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL10 BCL10 immune signaling adaptor IAGP ClinVar Annotator: match by term: Malignant tumor of testis ClinVar PMID:10582682 NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Cancer of the testes ClinVar PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP RGD PMID:9111193 RGD:6906883 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Cancer of the testes
ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis		 ClinVar PMID:25741868 PMID:28492532 PMID:28724667 PMID:31350202 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LOC130062899 ATAC-STARR-seq lymphoblastoid active region 13597 IAGP ClinVar Annotator: match by term: Cancer of the testes ClinVar PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991 NCBI chr19:1,223,046...1,223,255 JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 IEP mRNA:decreased expression:testis (human) RGD PMID:21625523 RGD:152995425 NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Malignant tumor of testis
ClinVar Annotator: match by term: Cancer of the testes		 ClinVar PMID:9605748 PMID:9887330 PMID:25741868 PMID:26467025 PMID:28135145 More... NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		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 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
Testicular Germ Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type EXP CTD Direct Evidence: marker/mechanism CTD PMID:30258081 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30258081 NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119 		JBrowse link
G BCL10 BCL10 immune signaling adaptor IAGP
EXP		 ClinVar Annotator: match by term: Male germ cell tumor, somatic
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9989495 PMID:10380920 PMID:10408400 PMID:25365219 PMID:28492532 More... NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632 		JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates HEP mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 exacerbates HEP mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 exacerbates HEP mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636 		JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 disease_progression HEP mRNA:decreased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571 		JBrowse link
G DAZL deleted in azoospermia like EXP CTD Direct Evidence: marker/mechanism CTD PMID:23666240 NCBI chr 3:16,586,792...16,605,423
Ensembl chr 3:16,586,792...16,670,306 		JBrowse link
G EIF2S2 eukaryotic translation initiation factor 2 subunit beta ISO RGD PMID:19168544 RGD:10755431 NCBI chr20:34,088,309...34,112,243
Ensembl chr20:34,088,309...34,112,243 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP
EXP		 ClinVar Annotator: match by term: Testicular germ cell tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 HPGDS hematopoietic prostaglandin D synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23666239 NCBI chr 4:94,298,535...94,342,836
Ensembl chr 4:94,298,535...94,342,876 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP
EXP		 ClinVar Annotator: match by term: Testicular germ cell tumor
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Germ cell tumor of testis		 OMIM
ClinVar
CTD		 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 MAD1L1 mitotic arrest deficient 1 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23666239 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22321834 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G NAIP NLR family apoptosis inhibitory protein exacerbates HEP mRNA:increased expression:testis (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339 		JBrowse link
G PITX1 paired like homeodomain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23666240 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G PRDM14 PR/SET domain 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23666240 NCBI chr 8:70,051,651...70,071,252
Ensembl chr 8:70,051,651...70,071,693 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23666239 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G SALL4 spalt like transcription factor 4 IEP protein:increased expression:testis (human) RGD PMID:19390421 RGD:11556205 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP
EXP		 ClinVar Annotator: match by term: Testicular germ cell tumor
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Germ cell tumor of testis		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
testicular lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYD88 MYD88 innate immune signal transduction adaptor IGI associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human) RGD PMID:28868954 RGD:150524335 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      endocrine system disease 7705
        Endocrine Gland Neoplasms 2877
          Testicular Neoplasms 46
            Nonseminomatous Germ Cell Tumor 1
            Testicular Germ Cell Tumor + 20
            Testicular Teratoma 0
            epididymal neoplasm 0
            rete testis neoplasm + 0
            seminal vesicle tumor + 0
            testicular cancer + 10
            testicular trophoblastic tumor 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      Urogenital Diseases 6459
        reproductive system disease 4003
          male reproductive system disease 2565
            Male Genital Neoplasms 1865
              Testicular Neoplasms 46
                Nonseminomatous Germ Cell Tumor 1
                Testicular Germ Cell Tumor + 20
                Testicular Teratoma 0
                epididymal neoplasm 0
                rete testis neoplasm + 0
                seminal vesicle tumor + 0
                testicular cancer + 10
                testicular trophoblastic tumor 0
paths to the root