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.
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Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chrNW_004624797:13,234,741...13,678,542
Ensembl chrNW_004624797:13,230,932...13,678,742
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Teratoid tumor, atypical
ClinVar
PMID:25741868
NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719
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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 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
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Fgf8
fibroblast growth factor 8
ISO
protein:increased expression:testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
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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 chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
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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 chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
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Foxo3
forkhead box O3
ISO
OMIM:166950
MouseDO
NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374
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Amhr2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:ovary
RGD
PMID:17988723
RGD:2315651
NCBI chrNW_004624904:1,520,450...1,535,291
Ensembl chrNW_004624904:1,520,572...1,530,908
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Brca1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 PMID:32885271 PMID:33471991 More...
NCBI chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964
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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 chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529
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Inha
inhibin subunit alpha
ISO
protein:increased expression:tumor
RGD
PMID:11720904
RGD:2290380
NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
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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 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
NCBI chrNW_004624761:14,733,912...14,831,428
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Pou5f1
POU class 5 homeobox 1
ISO
RGD
PMID:15371950
RGD:2292443
NCBI chrNW_004624754:24,758,055...24,764,723
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Set
SET nuclear proto-oncogene
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:26822237
NCBI chrNW_004624760:6,293,452...6,304,237
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chrNW_004624812:4,584,043...4,620,410
Ensembl chrNW_004624812:4,583,946...4,620,547
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Afp
alpha fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chrNW_004624735:34,072,257...34,092,540
Ensembl chrNW_004624735:34,072,192...34,092,604
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Ccna2
cyclin A2
ISO
protein:increased expression:testis
RGD
PMID:14696091
RGD:2293346
NCBI chrNW_004624777:2,097,002...2,104,244
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Chek2
checkpoint kinase 2
ISO
protein:decreased expression:testis
RGD
PMID:11593395
RGD:2298484
NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
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Fgf8
fibroblast growth factor 8
ISO
protein:increased expression:testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
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Inha
inhibin subunit alpha
ISO
protein:increased expression:tumor
RGD
PMID:11720904
RGD:2290380
NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
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Pou5f1
POU class 5 homeobox 1
ISO
DNA:hypomethylation:promoter
RGD
PMID:17549357 PMID:18045648
RGD:2292431 RGD:2292433
NCBI chrNW_004624754:24,758,055...24,764,723
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chrNW_004624818:957,597...996,565
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634
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Bcor
BCL6 corepressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15475955
NCBI chrNW_004624804:7,477,046...7,533,322
Ensembl chrNW_004624804:7,492,799...7,533,408
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793134
NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938
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Myod1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793135
NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326
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Ptpn11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:26619011 PMID:26822237
NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768
NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31494105
NCBI chrNW_004624878:621,214...776,363
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Slc22a18
solute carrier family 22 member 18
ISO
OMIM
NCBI chrNW_004624767:15,653,083...15,677,691
Ensembl chrNW_004624767:15,653,047...15,677,640
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Dicer1
dicer 1, ribonuclease III
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
OMIM ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26467025 PMID:26475046 PMID:26545620 PMID:26555935 PMID:26577641 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28524158 PMID:28873162 PMID:29399970 PMID:30097050 PMID:30446821 PMID:32714280 PMID:34291157 PMID:34313605 More...
NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819
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Afp
alpha fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:17525908
RGD:2292040
NCBI chrNW_004624735:34,072,257...34,092,540
Ensembl chrNW_004624735:34,072,192...34,092,604
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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 chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
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Fgf8
fibroblast growth factor 8
ISO
protein:increased expression:testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741
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Sall4
spalt like transcription factor 4
ISO
protein:increased expression:testis, nucleus (human)
RGD
PMID:23347651
RGD:11557983
NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
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Wnt2b
Wnt family member 2B
ISO
mRNA:increased expression:tumor
RGD
PMID:16822086
RGD:2298800
NCBI chrNW_004624772:8,305,042...8,319,882
Ensembl chrNW_004624772:8,304,708...8,319,349
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:missense mutation:exon:p.V600E (human)
RGD
PMID:19289622
RGD:2315865
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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Ccnd2
cyclin D2
ISO
RGD
PMID:17167184
RGD:2296039
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
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Mgp
matrix Gla protein
ISO
mRNA:increased expression:tumor
RGD
PMID:1399132
RGD:2293578
NCBI chrNW_004624752:23,146,025...23,149,266
Ensembl chrNW_004624752:23,146,166...23,149,048
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Pdpn
podoplanin
ISO
RGD
PMID:16718353
RGD:2292236
NCBI chrNW_004624764:163,370...192,770
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Germinoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389
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Pou5f1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chrNW_004624754:24,758,055...24,764,723
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Cga
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chrNW_004624799:7,249,502...7,265,662
Ensembl chrNW_004624799:7,249,586...7,265,999
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Eftud2
elongation factor Tu GTP binding domain containing 2
ISO
protein:increased expression:trophoblast, decidua:
RGD
PMID:32447180
RGD:155791666
NCBI chrNW_004624795:407,228...435,578
Ensembl chrNW_004624795:407,598...438,734
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Mlh1
mutL homolog 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chrNW_004624788:15,110,436...15,160,462
Ensembl chrNW_004624788:15,110,658...15,160,535
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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Msh2
mutS homolog 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
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Msh2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
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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 chrNW_004624752:6,885,606...6,958,109
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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 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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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:23409019 PMID:23932590 PMID:24003026 PMID:25741868 PMID:26130695 PMID:26467025 PMID:28492532 PMID:28591191 PMID:28702895 PMID:28837162 PMID:29287190 PMID:30075111 PMID:30426508 PMID:30927251 PMID:31700994 PMID:31991861 PMID:32235514 PMID:33036707 PMID:33118316 PMID:33471991 PMID:34117267 More...
NCBI chrNW_004624731:23,342,313...23,391,877
Ensembl chrNW_004624731:23,340,460...23,392,040
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Cluap1
clusterin associated protein 1
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:26820066
NCBI chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129
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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 PMID:12110640 PMID:12460918 PMID:14982869 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20147967 PMID:20570890 PMID:20652921 PMID:20921462 PMID:20921465 PMID:20949621 PMID:20978259 PMID:21063026 PMID:21228335 PMID:21371307 PMID:21398618 PMID:21975775 PMID:22392911 PMID:22407852 PMID:22571758 PMID:22734028 PMID:23182985 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24740626 PMID:24803665 PMID:24836576 PMID:25157968 PMID:25251940 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26623049 PMID:26970110 PMID:28492532 PMID:29948256 PMID:30289595 PMID:30448735 PMID:30891959 PMID:32934698 PMID:34117033 More...
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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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 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575
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Sall4
spalt like transcription factor 4
ISO
protein:increased expression:female gonad (human)
RGD
PMID:19295406
RGD:11556233
NCBI chrNW_004624790:4,153,157...4,170,813
Ensembl chrNW_004624790:4,162,454...4,170,923
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Gpc3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chrNW_004624797:13,234,741...13,678,542
Ensembl chrNW_004624797:13,230,932...13,678,742
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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 PMID:28492532 PMID:29664915 PMID:32499604 PMID:35882526 More...
NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384
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Ccnd2
cyclin D2
ISO
mRNA, protein:increased expression:testis
RGD
PMID:15747581
RGD:2289154
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
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Chek2
checkpoint kinase 2
ISO
protein:decreased expression:testis
RGD
PMID:11593395
RGD:2298484
NCBI chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332
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Entpd6
ectonucleoside triphosphate diphosphohydrolase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21519793
NCBI chrNW_004624939:313,763...333,640
Ensembl chrNW_004624939:313,768...333,694
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Fas
Fas cell surface death receptor
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
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Faslg
Fas ligand
ISO
mRNA, protein:increased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19855393
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
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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 chrNW_004624822:6,621,609...8,069,590
Ensembl chrNW_004624822:6,621,909...7,380,047
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Hmbs
hydroxymethylbilane synthase
ISO
mRNA:increased expression:tumor
RGD
PMID:15823405
RGD:2301683
NCBI chrNW_004624784:14,467,515...14,474,954
Ensembl chrNW_004624784:14,467,533...14,474,954
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple (human)
CTD RGD
PMID:19855393
RGD:2314832
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Inha
inhibin subunit alpha
ISO
protein:increased expression:tumor
RGD
PMID:11720904
RGD:2290380
NCBI chrNW_004624823:5,487,930...5,491,447
Ensembl chrNW_004624823:5,487,278...5,491,635
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Insr
insulin receptor
ISO
mRNA:decreased expression:tumor:isoform B
RGD
PMID:15967097
RGD:2290460
NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184
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Jup
junction plakoglobin
ISO
mRNA:increased expression:tumor:relative to normal tissue (p<0.01)
RGD
PMID:11956097
RGD:2291872
NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chrNW_004624745:22,624,414...22,631,625
Ensembl chrNW_004624745:22,624,765...22,631,609
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562
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Kit
KIT proto-oncogene, receptor tyrosine kinase
ISO
DNA:transversion:CDS:2467G>C, amino acid D816H
RGD
PMID:10362788
RGD:2292181
NCBI chrNW_004624761:14,733,912...14,831,428
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:8816895
RGD:2314915
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:7474604
RGD:2315012
NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
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Pdpn
podoplanin
ISO
RGD
PMID:17951198
RGD:2292234
NCBI chrNW_004624764:163,370...192,770
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Pou5f1
POU class 5 homeobox 1
ISO
DNA:hypomethylation:promoter protein:increased expression:chest mRNA, protein:increased expression:testis
RGD
PMID:17549357 PMID:17785371 PMID:18162782
RGD:2292429 RGD:2292432 RGD:2292433
NCBI chrNW_004624754:24,758,055...24,764,723
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Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chrNW_004624820:9,599,867...9,608,578
Ensembl chrNW_004624820:9,599,734...9,608,703
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chrNW_004624748:6,358,588...6,533,217
Ensembl chrNW_004624748:6,358,180...6,533,249
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Smad4
SMAD family member 4
ISO
DNA, protein:insertion, decreased expression:1521insT
RGD
PMID:10706106
RGD:2299975
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
protein:increased expression:testis
RGD
PMID:19288744
RGD:2315467
NCBI chrNW_004624754:15,929,414...15,943,637
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism: :p.R399Q
RGD
PMID:16596238
RGD:2302576
NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266
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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:10471491 PMID:11055896 PMID:11241532 PMID:11429702 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 chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25157968 PMID:25741868 PMID:31775759
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25157968 PMID:25741868 PMID:31775759
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
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Afp
alpha fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chrNW_004624735:34,072,257...34,092,540
Ensembl chrNW_004624735:34,072,192...34,092,604
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Dab2
DAB adaptor protein 2
ISO
ClinVar Annotator: match by term: Teratocarcinoma
ClinVar
PMID:25741868
NCBI chrNW_004624759:15,459,436...15,520,225
Ensembl chrNW_004624759:15,459,288...15,520,924
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Dnd1
DND microRNA-mediated repression inhibitor 1
ISO
compared to WKY
RGD
PMID:22655094
RGD:40924659
NCBI chrNW_004624743:33,421,810...33,424,515
Ensembl chrNW_004624743:33,421,810...33,424,635
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Aff1
ALF transcription elongation factor 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624872:3,486,242...3,656,089
Ensembl chrNW_004624872:3,486,135...3,651,098
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Arhgef10l
Rho guanine nucleotide exchange factor 10 like
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624764:2,992,344...3,126,131
Ensembl chrNW_004624764:3,007,216...3,126,298
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Bax
BCL2 associated X, apoptosis regulator
disease_progression
ISO
RGD
PMID:17390059
RGD:2296025
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624768:10,786,139...10,922,558
Ensembl chrNW_004624768:10,785,815...10,922,790
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Creb3l1
cAMP responsive element binding protein 3 like 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624767:2,215,850...2,247,470
Ensembl chrNW_004624767:2,215,558...2,247,509
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329
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Cripto
cripto, EGF-CFC family member
treatment
ISO
RGD
PMID:20641036
RGD:11561895
NCBI chrNW_004624730:74,547,226...74,550,526
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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 chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624784:14,142,051...14,178,845
Ensembl chrNW_004624784:14,142,051...14,178,868
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Epas1
endothelial PAS domain protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624765:3,612,781...4,742,219
Ensembl chrNW_004624765:3,613,379...4,734,585
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Etnk1
ethanolamine kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624752:16,134,295...16,196,406
Ensembl chrNW_004624752:16,139,202...16,196,389
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Flt4
fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624740:3,785,342...3,875,892
Ensembl chrNW_004624740:3,785,209...3,875,841
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624785:8,356,238...8,405,877
Ensembl chrNW_004624785:8,369,922...8,408,919
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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 chrNW_004624860:5,026,203...5,037,219
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Pabpc1
poly(A) binding protein cytoplasmic 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624763:7,552,541...7,568,047
Ensembl chrNW_004624763:7,550,307...7,567,918
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Pgm1
phosphoglucomutase 1
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chrNW_004624742:30,543,161...30,592,117
Ensembl chrNW_004624742:30,542,448...30,592,162
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Pgm3
phosphoglucomutase 3
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chrNW_004624799:11,395,465...11,423,878
Ensembl chrNW_004624799:11,395,615...11,423,876
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Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624731:26,649,606...26,808,098
Ensembl chrNW_004624731:26,649,727...26,807,222
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Ptprb
protein tyrosine phosphatase receptor type B
ISO
RGD
PMID:23575676
RGD:151660354
NCBI chrNW_004624750:27,188,858...27,320,470
Ensembl chrNW_004624750:27,188,729...27,316,150
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Rabep1
rabaptin, RAB GTPase binding effector protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624786:9,060,953...9,191,767
Ensembl chrNW_004624786:9,060,895...9,191,767
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200
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Slc45a3
solute carrier family 45 member 3
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624807:5,564,530...5,583,638
Ensembl chrNW_004624807:5,564,545...5,583,816
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Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624783:7,874,701...8,311,622
Ensembl chrNW_004624783:7,845,945...8,311,823
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chrNW_004624875:4,425,486...4,477,338
Ensembl chrNW_004624875:4,425,418...4,477,909
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression
RGD
PMID:12168080
RGD:2298558
NCBI chrNW_004624751:624,569...647,198
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Trrap
transformation/transcription domain associated protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
PMID:25741868
NCBI chrNW_004624740:32,349,521...32,472,240
Ensembl chrNW_004624740:32,349,568...32,472,308
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244
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Wnt2b
Wnt family member 2B
ISO
mRNA:increased expression:tumor
RGD
PMID:16822086
RGD:2298800
NCBI chrNW_004624772:8,305,042...8,319,882
Ensembl chrNW_004624772:8,304,708...8,319,349
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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 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10094188 PMID:10425034 PMID:10671061 PMID:10861678 PMID:11424131 PMID:11746040 PMID:14613973 PMID:15241680 PMID:15915095 PMID:17509076 PMID:17552943 PMID:17875876 PMID:18076102 PMID:19088846 PMID:19215249 PMID:20301540 PMID:20301588 PMID:20301628 PMID:22016144 PMID:22622662 PMID:24728327 PMID:25271085 PMID:25614871 PMID:25728633 PMID:25741868 PMID:26740388 PMID:26818779 PMID:28492532 PMID:32238909 PMID:36474027 More...
NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932
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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 PMID:16731599 PMID:18955458 PMID:19164557 PMID:20147452 PMID:21642685 PMID:21690468 PMID:25157968 PMID:25741868 PMID:26822237 PMID:28492532 More...
NCBI chrNW_004624761:14,733,912...14,831,428
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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 chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298
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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 chrNW_004624807:6,800,144...6,805,555
Ensembl chrNW_004624807:6,803,265...6,805,433
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