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: teratoma
Accession: DOID:3307
browse the term
Definition: A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)
Synonyms: exact_synonym: dysembryoma; dysembryomas; teratoid tumor; teratoid tumors; teratomas
primary_id: MESH:D013724
xref: ICDO:9080/3; NCI:C3403
For additional species annotation, visit the
Alliance of Genome Resources .
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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 5:158,075,370...158,218,358
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 4:177,857,001...177,901,278
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 4:58,060,689...58,459,926
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:16,603,888...16,612,203
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
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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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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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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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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: 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: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:25326637 PMID:26323243
NCBI chr 1:76,811,044...76,872,964
Ensembl chr 1:76,810,108...77,077,580
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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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