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
Accession: DOID:9004207
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
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Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
protein:increased expression:testis
RGD
PMID:14767568
RGD:2315609
NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542
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Atf7ip
activating transcription factor 7 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20543847
NCBI chr 4:171,117,122...171,202,871
Ensembl chr 4:169,385,872...169,471,650
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Ccna1
cyclin A1
ISO
mRNA:decreased expression:testis (human)
RGD
PMID:15800920
RGD:2289152
NCBI chr 2:141,383,352...141,428,205
Ensembl chr 2:139,201,074...139,243,157
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Ccnd2
cyclin D2
ISO
mRNA:increased expression:testis
RGD
PMID:15800920
RGD:2289152
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
protein:decreased expression:testis
RGD
PMID:11376116
RGD:2293610
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Dmrt1
doublesex and mab-3 related transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20543847
NCBI chr 1:232,569,179...232,667,646
Ensembl chr 1:223,142,859...223,241,333
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19956886
NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:78,996,390...79,007,963
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Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19956886
NCBI chr10:2,926,085...2,958,176
Ensembl chr10:2,419,038...2,448,369 Ensembl chr10:2,419,038...2,448,369
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Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33172093
NCBI chr15:36,325,552...36,369,995
Ensembl chr15:32,210,074...32,253,309
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion
RGD
PMID:18162130
RGD:2293826
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Kitlg
KIT ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19483681 PMID:19483682
NCBI chr 7:36,782,621...36,863,796
Ensembl chr 7:34,896,053...34,977,214
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Klk10
kallikrein related-peptidase 10
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:11920956
RGD:2314851
NCBI chr 1:103,371,638...103,375,918
Ensembl chr 1:94,235,096...94,239,376
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12483540
RGD:2317686
NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:7474604
RGD:2315012
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Plaat3
phospholipase A and acyltransferase 3
ISO
RGD
PMID:11526504
RGD:2290002
NCBI chr 1:214,211,755...214,245,551
Ensembl chr 1:204,782,729...204,817,667
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Rnf4
ring finger protein 4
ISO
mRNA:decreased expression:testes (human)
RGD
PMID:14644130
RGD:9831408
NCBI chr14:80,625,864...80,647,138
Ensembl chr14:76,401,299...76,422,566
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Smad1
SMAD family member 1
ISO
RGD
PMID:17967875
RGD:2299978
NCBI chr19:45,417,430...45,477,962
Ensembl chr19:28,513,131...28,573,651
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Smad5
SMAD family member 5
ISO
RGD
PMID:17967875
RGD:2299978
NCBI chr17:7,867,640...7,896,983
Ensembl chr17:7,864,720...7,891,634
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor, nonseminomatous
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28492532 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:7773297 PMID:8599935 PMID:8754806 PMID:9207791 PMID:9677066 PMID:10053006 PMID:11055896 PMID:11241532 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16912704 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25741868 PMID:31775759
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: Malignant tumor of testis
ClinVar
PMID:10582682
NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Cancer of the testes
ClinVar
PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8858131 PMID:9438390 PMID:9452043 PMID:9672519 PMID:9677066 PMID:10073901 PMID:10360392 PMID:10361991 PMID:10395236 PMID:10471491 PMID:10607835 PMID:10696568 PMID:10777366 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11529856 PMID:11754059 PMID:11879084 PMID:12707965 PMID:12833394 PMID:15517832 PMID:15772091 PMID:16501574 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17320202 PMID:17384684 PMID:17875876 PMID:18000976 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22045636 PMID:23056398 PMID:23149434 PMID:23165795 PMID:24120763 PMID:24715719 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25741868 PMID:25809207 PMID:26380986 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30635042 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Gstp1
glutathione S-transferase pi 1
ISO
RGD
PMID:9111193
RGD:6906883
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
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 chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Slco1b2
solute carrier organic anion transporter family member 1B2
ISO
mRNA:decreased expression:testis (human)
RGD
PMID:21625523
RGD:152995425
NCBI chr 4:176,282,577...176,355,557
Ensembl chr 4:174,551,480...174,619,981
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Cancer of the testes | ClinVar Annotator: match by term: Malignant tumor of testis
ClinVar
PMID:9605748 PMID:9887330 PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991 More...
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:12009017 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18266238 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:10362788 PMID:25741868 PMID:26822237 PMID:28492532 PMID:28724667 PMID:31350202 More...
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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Alox5
arachidonate 5-lipoxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30258081
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Bcl10
BCL10, immune signaling adaptor
ISO
ClinVar Annotator: match by term: MALE GERM CELL TUMOR, SOMATIC CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9989495 PMID:10380920 PMID:10408400 PMID:25365219 PMID:28492532 PMID:32008135 More...
NCBI chr 2:237,501,181...237,510,821
Ensembl chr 2:234,840,858...234,850,523
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Birc6
baculoviral IAP repeat-containing 6
disease_progression
ISO
mRNA:decreased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434
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Dazl
deleted in azoospermia-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666240
NCBI chr 9:10,695,593...10,712,330
Ensembl chr 9:10,695,592...10,712,323
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Eif2s2
eukaryotic translation initiation factor 2 subunit beta
ISO
RGD
PMID:19168544
RGD:10755431
NCBI chr 3:143,374,652...143,395,460
Ensembl chr 3:143,373,686...143,395,432
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Testicular germ cell tumor CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8599935 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8754806 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9677066 PMID:9790257 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10425034 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:12009017 PMID:12624096 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15843401 PMID:15915095 PMID:16501574 PMID:16752380 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17033969 PMID:17256796 PMID:17320202 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18000976 PMID:18076102 PMID:18266238 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19855393 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:20704477 PMID:21273588 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:23056398 PMID:23972473 PMID:24075385 PMID:24120763 PMID:24728327 PMID:24863959 PMID:24864036 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:26740388 PMID:26818779 PMID:28230213 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30692697 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Hpgds
hematopoietic prostaglandin D synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666239
NCBI chr 4:95,698,265...95,727,733
Ensembl chr 4:94,373,342...94,397,883
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10362788 PMID:25741868 PMID:26822237 PMID:28492532 PMID:28724667 PMID:31350202 More...
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Mad1l1
mitotic arrest deficient 1 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666239
NCBI chr12:19,434,782...19,744,574
Ensembl chr12:14,320,892...14,630,703
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22321834
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Naip6
NLR family, apoptosis inhibitory protein 6
exacerbates
ISO
mRNA:increased expression:testis (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:31,507,424...31,570,542
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Pitx1
paired-like homeodomain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666240
NCBI chr17:8,794,051...8,805,477
Ensembl chr17:8,794,134...8,800,291
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Prdm14
PR/SET domain 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666240
NCBI chr 5:10,864,137...10,876,666
Ensembl chr 5:6,082,442...6,092,712
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Rfwd3
ring finger and WD repeat domain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23666239
NCBI chr19:56,145,221...56,177,871
Ensembl chr19:39,236,787...39,268,479
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Sall4
spalt-like transcription factor 4
ISO
protein:increased expression:testis (human)
RGD
PMID:19390421
RGD:11556205
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:157,474,642...157,490,822
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human)
RGD
PMID:28868954
RGD:150524335
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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