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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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical OMIM:609322
CTD OMIM ClinVar MouseDO
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:19124645 PMID:21108436 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:27380723 PMID:28492532 PMID:28873162 PMID:29617669 PMID:34308366 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Igf2
insulin-like growth factor 2
disease_progression
ISO
RGD
PMID:17556377
RGD:2290454
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Insr
insulin receptor
disease_progression
ISO
RGD
PMID:17556377
RGD:2290454
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Foxo3
forkhead box O3
ISS
OMIM:166950
MouseDO
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Amhr2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:ovary
RGD
PMID:17988723
RGD:2315651
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with Acrocephalosyndactylia (MeSH:D000168)
RGD
PMID:17243131
RGD:2289660
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Inha
inhibin subunit alpha
ISO
RGD
PMID:11720904
RGD:2290380
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar RGD
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 PMID:10362788 More...
RGD:2292181
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Pou5f1
POU class 5 homeobox 1
ISO
RGD
PMID:15371950
RGD:2292443
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Set
Set nuclear proto-oncogene
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:26822237
NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Ccna2
cyclin A2
ISO
protein:increased expression:testis
RGD
PMID:14696091
RGD:2293346
NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
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Chek2
checkpoint kinase 2
ISO
protein:decreased expression:testis
RGD
PMID:11593395
RGD:2298484
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Inha
inhibin subunit alpha
ISO
RGD
PMID:11720904
RGD:2290380
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Pou5f1
POU class 5 homeobox 1
ISO
DNA:hypomethylation:promoter
RGD
PMID:17549357 PMID:18045648
RGD:2292433 , RGD:2292431
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15475955
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793134
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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Myod1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793135
NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31494105
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Slc22a18
solute carrier family 22, member 18
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
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Dicer1
dicer 1 ribonuclease III
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
OMIM CTD 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 chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:17525908
RGD:2292040
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Sall4
spalt-like transcription factor 4
ISO
protein:increased expression:testis, nucleus (human)
RGD
PMID:23347651
RGD:11557983
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Ccnd2
cyclin D2
ISO
RGD
PMID:17167184
RGD:2296039
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:transition:exon:142G>A
RGD
PMID:9554401
RGD:2289698
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
DNA:transition:exon:142G>A
RGD
PMID:9554401
RGD:2289698
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
ISO
DNA:transition:exon:142G>A
RGD
PMID:9554401
RGD:2289698
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Mgp
matrix Gla protein
ISO
RGD
PMID:1399132
RGD:2293578
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Pdpn
podoplanin
ISO
RGD
PMID:16718353
RGD:2292236
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Germinoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Gestational trophoblastic neoplasia
ClinVar
PMID:21948117 PMID:25741868
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pou5f1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Cga
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chr 5:49,486,915...49,499,192
Ensembl chr 5:49,487,068...49,499,191
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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 chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
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Khdc3
KH domain containing 3, subcortical maternal complex member
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hydatidiform mole
CTD ClinVar
PMID:25741868
NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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Mlh1
mutL homolog 1
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
ISO
DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Msh2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
ClinVar
PMID:19066229 PMID:21507883 PMID:24105752
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1
ClinVar
PMID:11598368 PMID:14756744 PMID:16199547 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19309689 PMID:19650864 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25097207 PMID:25741868 PMID:26544189 PMID:26956250 PMID:28166811 PMID:28492532 More...
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Khdc3
KH domain containing 3, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2
OMIM ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 PMID:25741868 More...
NCBI chr 8:73,842,344...73,844,248
Ensembl chr 8:73,842,344...73,844,248
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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 chr 7:113,590,142...113,643,513
Ensembl chr 7:113,590,142...113,643,511
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Top6bl
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4
OMIM ClinVar
PMID:25741868 PMID:30388401
NCBI chr 1:201,902,564...201,989,945
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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 chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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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 chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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Cluap1
clusterin associated protein 1
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:26820066
NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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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 chr 4:178,185,418...178,218,484
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Nlrp5
NLR family, pyrin domain containing 5
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:20738330 PMID:26323243
NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736
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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 chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Sall4
spalt-like transcription factor 4
ISO
protein:increased expression:female gonad (human)
RGD
PMID:19295406
RGD:11556233
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Gpc3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Ring dermoid of cornea CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29664915 PMID:32499604 PMID:35882526 More...
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Ccnd2
cyclin D2
ISO
mRNA, protein:increased expression:testis
RGD
PMID:15747581
RGD:2289154
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Chek2
checkpoint kinase 2
ISO
protein:decreased expression:testis
RGD
PMID:11593395
RGD:2298484
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Entpd6
ectonucleoside triphosphate diphosphohydrolase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21519793
NCBI chr 3:139,575,659...139,598,163
Ensembl chr 3:139,575,686...139,598,154
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Fas
Fas cell surface death receptor
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
mRNA, protein:increased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19855393
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:12379753
RGD:2289879
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Hmbs
hydroxymethylbilane synthase
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:15823405
RGD:2301683
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hras
HRas proto-oncogene, GTPase
ISO
DNA:mutations: :multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19855393 PMID:19855393
RGD:2314832
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Inha
inhibin subunit alpha
ISO
RGD
PMID:11720904
RGD:2290380
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Insr
insulin receptor
ISO
RGD
PMID:15967097
RGD:2290460
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Jup
junction plakoglobin
ISO
RGD
PMID:11956097
RGD:2291872
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
RGD
PMID:10362788
RGD:2292181
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:8816895
RGD:2314915
NCBI chr 4:178,185,418...178,218,484
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:7474604
RGD:2315012
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdpn
podoplanin
ISO
RGD
PMID:17951198
RGD:2292234
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Plaat3
phospholipase A and acyltransferase 3
ISO
RGD
PMID:11526504
RGD:2290002
NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
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Pou5f1
POU class 5 homeobox 1
ISO
protein:increased expression:chest DNA:hypomethylation:promoter mRNA, protein:increased expression:testis
RGD
PMID:18162782 PMID:17549357 PMID:17785371
RGD:2292429 , RGD:2292433 , RGD:2292432
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Smad4
SMAD family member 4
ISO
DNA, protein:insertion, decreased expression:1521insT
RGD
PMID:10706106
RGD:2299975
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Tspy1
testis specific protein, Y-linked 1
ISO
protein:increased expression:testis
RGD
PMID:17521702
RGD:2315445
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
protein:increased expression:testis
RGD
PMID:19288744
RGD:2315467
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism: :p.R399Q
RGD
PMID:16596238
RGD:2302576
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfp354a
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068
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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 chr14:76,987,242...77,002,671
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:25157968 PMID:25741868 PMID:31775759
NCBI chr 1:196,290,127...196,299,823
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:25157968 PMID:25741868 PMID:31775759
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Dab2
DAB adaptor protein 2
ISO
ClinVar Annotator: match by term: Teratocarcinoma
ClinVar
PMID:25741868
NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:55,514,700...55,567,476
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Dnd1
DND microRNA-mediated repression inhibitor 1
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316
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Dnd1ter
DND microRNA-mediated repression inhibitor 1, ter mutant
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
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H19
H19 imprinted maternally expressed transcript
ISO
RGD
PMID:18719115
RGD:2306169
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Aff1
ALF transcription elongation factor 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:5,861,188...6,024,196
Ensembl chr14:5,863,961...6,024,729
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Arhgef10l
Rho guanine nucleotide exchange factor 10 like
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 5:152,792,247...152,935,255
Ensembl chr 5:152,792,252...152,919,538
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Bax
BCL2 associated X, apoptosis regulator
disease_progression
ISO
RGD
PMID:17390059
RGD:2296025
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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Creb3l1
cAMP responsive element binding protein 3-like 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Cripto
cripto, EGF-CFC family member
treatment
ISO
RGD
PMID:20641036
RGD:11561895
NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
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Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Epas1
endothelial PAS domain protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Etnk1
ethanolamine kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:176,126,180...176,193,770
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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H19
H19 imprinted maternally expressed transcript
ISO
RGD
PMID:10521301
RGD:2306183
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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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 chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
DNA:deletion
RGD
PMID:7518576
RGD:2299072
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
DNA:deletion
RGD
PMID:7518576
RGD:2299072
NCBI chr10:78,898,097...78,903,514
Ensembl chr10:78,897,770...78,903,538
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Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744
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Pgm1
phosphoglucomutase 1
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
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Pgm3
phosphoglucomutase 3
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chr 8:87,518,317...87,536,021
Ensembl chr 8:87,517,701...87,536,022
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Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
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Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
RGD
PMID:23575676
RGD:151660354
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Rabep1
rabaptin, RAB GTPase binding effector protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Slc45a3
solute carrier family 45, member 3
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr13:43,407,293...43,427,588
Ensembl chr13:43,407,293...43,427,588
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Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843
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Ssx1
SSX family member 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr X:13,931,433...13,939,732
Ensembl chr X:13,931,470...13,939,720
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression
RGD
PMID:12168080
RGD:2298558
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Trrap
transformation/transcription domain-associated protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
PMID:25741868
NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Germ cell tumor of testis
ClinVar
PMID:7530509 PMID:9438854 PMID:10362788 PMID:11276010 PMID:15790786 PMID:16731599 PMID:18955458 PMID:19164557 PMID:20147452 PMID:21642685 PMID:21690468 PMID:25157968 PMID:25741868 PMID:26822237 PMID:28492532 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
G
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 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
G
Ang
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:12705339
RGD:2325706
NCBI chr15:24,312,711...24,323,361
G
Kiss1
KiSS-1 metastasis-suppressor
ISO
Gestational Trophoblastic Neoplasms, MeSH:D031901
RGD
PMID:16757546
RGD:2292132
NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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