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: germ cell and embryonal cancer
Accession: DOID:3095
browse the term
Definition: A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. (DO)
Synonyms: exact_synonym: embryonal and mixed cancer; embryonal cancer; embryonal cancers
For additional species annotation, visit the
Alliance of Genome Resources .
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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:74,916,548...75,062,880
Ensembl chr X:74,916,548...75,062,880
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Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:136,789,770...137,157,639
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISS ISO
OMIM:609322 ClinVar Annotator: match by term: Teratoid tumor, atypical
MouseDO ClinVar
PMID:25741868
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,740,943...12,763,055
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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: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:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 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:33300245 PMID:33840814 PMID:34529667 PMID:34670578 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605
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Igf2
insulin-like growth factor 2
disease_progression
ISO
RGD
PMID:17556377
RGD:2290454
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
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Insr
insulin receptor
disease_progression
ISO
RGD
PMID:17556377
RGD:2290454
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803
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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 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
DNA, protein:hypermethylation, decreased expression:promoter, placenta
RGD
PMID:15507671
RGD:2290418
NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547
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Foxo3
forkhead box O3
ISS
OMIM:166950
MouseDO
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845
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Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:17525908
RGD:2292040
NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649
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Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Fgf8
fibroblast growth factor 8
ISO
testicular germ cell neoplasms
RGD
PMID:11764380
RGD:2289339
NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605
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Sall4
spalt-like transcription factor 4
ISO
protein:increased expression:testis, nucleus (human)
RGD
PMID:23347651
RGD:11557983
NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9111512
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
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Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144
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Pou5f1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18440631
NCBI chr20:3,227,836...3,232,598
Ensembl chr20:3,227,837...3,232,598
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Cga
glycoprotein hormones, alpha polypeptide
ISO
protein:increased expression:serum
RGD
PMID:2473429
RGD:2293636
NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:54,235,019...54,295,464
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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 chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299
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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 8:82,722,980...82,724,884
Ensembl chr 8:82,722,980...82,724,884
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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 8:120,074,871...120,112,109
Ensembl chr 8:120,065,900...120,112,011
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:syncytiotrophoblast cell
RGD
PMID:16884384
RGD:2290363
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
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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 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
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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 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
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Pdgfrb
platelet derived growth factor receptor beta
ISO
mRNA:increased expression:mononuclear cytotrophoblast cell
RGD
PMID:8504434
RGD:2292200
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
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Msh2
mutS homolog 2
ISO
protein:decreased expression:mononuclear cytotrophoblast cell
RGD
PMID:15338238
RGD:2293517
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
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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 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition
ClinVar
PMID:11598368 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 PMID:19054016 PMID:19066229 PMID:19246479 PMID:19650864 PMID:19682372 PMID:21439709 PMID:21507883 PMID:21659348 PMID:21948117 PMID:22315435 PMID:22361007 PMID:22646272 PMID:23201303 PMID:23354651 PMID:24033266 PMID:24105752 PMID:25082979 PMID:25741868 PMID:26544189 PMID:26956250 PMID:28166811 PMID:28492532 PMID:32484253 PMID:35842788 PMID:36001209 More...
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
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Khdc3
KH domain containing 3, subcortical maternal complex member
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 | ClinVar Annotator: match by term: KHDC3L-related condition
OMIM ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 PMID:23232697 PMID:24033266 PMID:25741868 More...
NCBI chr 8:82,722,980...82,724,884
Ensembl chr 8:82,722,980...82,724,884
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Mei1
meiotic double-stranded break formation protein 1
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30388401
NCBI chr 7:115,470,256...115,523,618
Ensembl chr 7:115,470,256...115,523,616
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Top6bl
TOP6B like initiator of meiotic double strand breaks
ISO
ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 | ClinVar Annotator: match by term: TOP6BL-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30388401
NCBI chr 1:201,902,564...201,989,945
Ensembl chr 1:211,331,827...211,419,015
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Cluap1
clusterin associated protein 1
ISO
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
PMID:26820066
NCBI chr10:12,094,346...12,159,440
Ensembl chr10:12,094,346...12,131,693
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
OMIM ClinVar
PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18456719 PMID:19047918 PMID:19358724 PMID:20147967 PMID:20570890 PMID:20805368 PMID:20949522 PMID:21063026 PMID:21079152 PMID:21371307 PMID:22499344 PMID:22571758 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24033266 PMID:24629489 PMID:24720724 PMID:25133613 PMID:25251940 PMID:25623042 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26242988 PMID:26496393 PMID:26521233 PMID:26861459 PMID:26970110 PMID:28492532 PMID:29298116 PMID:30280194 PMID:30289595 PMID:30443000 PMID:30448735 PMID:30544177 PMID:30891959 PMID:30902772 PMID:31891627 PMID:31998945 PMID:32934698 PMID:34114335 PMID:34117033 PMID:35794233 PMID:39434542 More...
NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
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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 1:76,810,108...77,077,580
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Gpc3
glypican 3
ISO
protein:increased expression:placenta, trophoblast cells (human)
RGD
PMID:20868507
RGD:243065141
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:136,789,770...137,157,639
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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:21052876 PMID:22224469 PMID:22569110 PMID:25741868 PMID:26220699 PMID:27013732 PMID:28492532 PMID:29664915 PMID:32499604 PMID:35882526 More...
NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
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Afp
alpha-fetoprotein
ISO
protein:increased expression:serum
RGD
PMID:68943
RGD:2292041
NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649
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Dab2
DAB adaptor protein 2
ISO
ClinVar Annotator: match by term: Teratocarcinoma
ClinVar
PMID:25741868
NCBI chr 2:57,241,947...57,294,893
Ensembl chr 2:57,242,064...57,294,888
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Dnd1
DND microRNA-mediated repression inhibitor 1
IAGP
compared to WKY
RGD
PMID:22655094
RGD:40924659
NCBI chr18:28,652,712...28,655,336
Ensembl chr18:28,652,712...28,655,336
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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 1:207,160,175...207,162,851
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Aff1
ALF transcription elongation factor 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:6,165,864...6,328,848
Ensembl chr14:6,169,562...6,328,879
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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 5:158,075,370...158,180,685
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Bax
BCL2 associated X, apoptosis regulator
disease_progression
ISO
RGD
PMID:17390059
RGD:2296025
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:136,599,900...136,710,335
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Creb3l1
cAMP responsive element binding protein 3-like 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 3:98,408,240...98,449,104
Ensembl chr 3:98,408,058...98,449,104
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266
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Cripto
cripto, EGF-CFC family member
treatment
ISO
RGD
PMID:20641036
RGD:11561895
NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:119,803,220...119,808,948
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Ctnnb1
catenin beta 1
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 8:53,827,661...53,864,538
Ensembl chr 8:53,827,835...53,860,977
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Epas1
endothelial PAS domain protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729
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Erbb4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772
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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 4:177,856,960...177,924,721
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:34,414,834...34,455,878
Ensembl chr10:34,414,733...34,456,645
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H19
H19 imprinted maternally expressed transcript
ISO
RGD
PMID:10521301
RGD:2306183
NCBI chr 1:207,160,175...207,162,851
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:143,439,323...143,467,248
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Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:90,468,696...90,556,522
Ensembl chr14:90,469,172...90,557,574
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:3,980,544...4,014,029
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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 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
DNA:deletion
RGD
PMID:7518576
RGD:2299072
NCBI chr10:79,403,939...79,426,620
Ensembl chr10:79,403,940...79,413,310
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Nme2
NME/NM23 nucleoside diphosphate kinase 2
ISO
DNA:deletion
RGD
PMID:7518576
RGD:2299072
NCBI chr10:79,394,999...79,400,418
Ensembl chr20:11,179,066...11,179,497 Ensembl chr10:11,179,066...11,179,497
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Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:69,663,068...69,675,050
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Pgm1
phosphoglucomutase 1
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chr 5:119,710,734...119,770,159
Ensembl chr 5:119,710,737...119,770,159
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Pgm3
phosphoglucomutase 3
ISO
RGD
PMID:5259759
RGD:2299871
NCBI chr 8:96,398,331...96,416,045
Ensembl chr 8:96,398,269...96,416,021
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Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr11:77,179,190...77,281,270
Ensembl chr11:77,179,209...77,281,268
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Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
RGD
PMID:23575676
RGD:151660354
NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760
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Rabep1
rabaptin, RAB GTPase binding effector protein 1
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:56,064,742...56,168,778
Ensembl chr10:56,064,753...56,166,177
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863
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Slc45a3
solute carrier family 45, member 3
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr13:45,959,467...45,979,763
Ensembl chr13:45,959,467...45,979,763
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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 4:58,060,640...58,459,925
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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:16,604,449...16,612,210
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846
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Tert
telomerase reverse transcriptase
ISO
mRNA:decreased expression
RGD
PMID:12168080
RGD:2298558
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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Trrap
transformation/transcription domain-associated protein
ISO
ClinVar Annotator: match by term: Teratoma
ClinVar
PMID:25741868
NCBI chr12:14,851,758...14,941,444
Ensembl chr12:14,851,758...14,941,407
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003
G
Wnt2b
Wnt family member 2B
ISO
RGD
PMID:16822086
RGD:2298800
NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144
G
Ang
angiogenin
ISO
protein:increased expression:serum
RGD
PMID:12705339
RGD:2325706
NCBI chr15:26,786,233...26,796,883
Ensembl chr15:26,786,065...26,801,106
G
Kiss1
KiSS-1 metastasis-suppressor
ISO
Gestational Trophoblastic Neoplasms, MeSH:D031901
RGD
PMID:16757546
RGD:2292132
NCBI chr13:47,327,159...47,332,759
Ensembl chr13:47,327,004...47,332,906
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all