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: bone sarcoma
Accession: DOID:0080639
browse the term
Definition: A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)
For additional species annotation, visit the
Alliance of Genome Resources .
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12533788 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15803365 PMID:15810020 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17721994 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18571837 PMID:18706089 PMID:18725978 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20223004 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21701879 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22901170 PMID:22994785 PMID:23296741 PMID:23298314 PMID:23329222 PMID:23334666 PMID:23415889 PMID:23469205 PMID:23713947 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24506336 PMID:24599715 PMID:24628946 PMID:24713400 PMID:24723567 PMID:24728327 PMID:24880342 PMID:24884479 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25741868 PMID:25798211 PMID:26083025 PMID:26084796 PMID:26270727 PMID:26332814 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26687385 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27443514 PMID:27488870 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28166811 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28724667 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28981386 PMID:29146883 PMID:29335925 PMID:29351919 PMID:29356917 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29922827 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30152102 PMID:30287823 PMID:30303537 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30441849 PMID:30580288 PMID:30672594 PMID:30676620 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31214250 PMID:31220302 PMID:31300551 PMID:31360903 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31512090 PMID:31614935 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32119081 PMID:32243226 PMID:32255556 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32566746 PMID:32658311 PMID:33134171 PMID:33471991 PMID:33558524 PMID:33670479 PMID:33986034 More...
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Efemp2
EGF containing fibulin extracellular matrix protein 2
exacerbates disease_progression
ISO
mRNA, protein:increased expression:bone tissue (human ) protein:increased expression:bone tissue (human)
RGD
PMID:28339091 PMID:27157136
RGD:42722011 , RGD:42722013
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:1352883 PMID:2601691 PMID:7881418 PMID:9311732 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10486322 PMID:10966849 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16269091 PMID:16449662 PMID:17096365 PMID:17960112 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26396485 PMID:26925970 PMID:27582626 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 PMID:33493472 More...
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8633021 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12085209 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31775759 PMID:32000721 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Bone osteosarcoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Chi3l1
chitinase 3 like 1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:12598313
RGD:4892624
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Col2a1
collagen type II alpha 1 chain
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23770606 PMID:23770606
RGD:8657387
NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Ext1
exostosin glycosyltransferase 1
ISO
ClinVar Annotator: match by term: Chondrosarcoma mRNA:decreased expression:epiphyseal plate (human)
OMIM ClinVar RGD
PMID:8981950 PMID:25741868 PMID:17226760
RGD:13208235
NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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Fgfr3
fibroblast growth factor receptor 3
IEP
protein:increased expression:growth plate
RGD
PMID:17907424
RGD:11568634
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Mtor
mechanistic target of rapamycin kinase
disease_progression
IMP
RGD
PMID:22761648
RGD:10040952
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Taf15
TATA-box binding protein associated factor 15
ISO
extraskeletal myxoid chondrosarcomas (EMC)
RGD
PMID:10602519
RGD:1599281
NCBI chr10:68,272,900...68,304,951
Ensembl chr10:68,272,969...68,304,949
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Nr4a3
nuclear receptor subfamily 4, group A, member 3
ISO
OMIM
NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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Taf15
TATA-box binding protein associated factor 15
ISO
OMIM
NCBI chr10:68,272,900...68,304,951
Ensembl chr10:68,272,969...68,304,949
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Ccng1
cyclin G1
treatment
ISO
human cells in mouse model
RGD
PMID:9322869
RGD:151356969
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr13:22,689,783...22,853,920
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Cd99
CD99 molecule (Xg blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr20:54,418,239...54,422,882
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12817616
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Akap12
A-kinase anchoring protein 12
IEP
mRNA,protein:decreased expression:osteoblast:
RGD
PMID:19825367
RGD:5147850
NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Osteosarcoma, somatic
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387997
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21311599
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Brca2
BRCA2, DNA repair associated
IAGP
DNA:nonsense mutation
RGD
PMID:16964288
RGD:1599505
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24646477
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Cbl
Cbl proto-oncogene
ISO
protein:decreased expression:bone
RGD
PMID:22623369
RGD:126925238
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ccnb3
cyclin B3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22387997
NCBI chr X:15,478,050...15,543,292
Ensembl chr X:15,478,065...15,542,885
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Cdc5l
cell division cycle 5-like
ISO
DNA:amplification:cds (human)
RGD
PMID:18567798
RGD:10047050
NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:15,564,767...15,603,450
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Osteoblastic osteosarcoma
ClinVar
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 PMID:9166859 PMID:9389568 PMID:10389768 PMID:10667595 PMID:10719365 PMID:11687599 PMID:15075790 PMID:16234564 PMID:16818274 PMID:16896043 PMID:17218939 PMID:18335566 PMID:18519632 PMID:21085193 PMID:21462282 PMID:22440936 PMID:24733792 PMID:25078331 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26670561 PMID:26681309 PMID:27756164 PMID:27960642 PMID:28166811 PMID:28454591 PMID:28492532 PMID:28640387 PMID:28765326 PMID:28830827 PMID:30207590 PMID:30339520 PMID:31921681 PMID:32191290 PMID:33823155 More...
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Osteosarcoma, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12533788 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15803365 PMID:15810020 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17721994 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18571837 PMID:18706089 PMID:18725978 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20223004 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21701879 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22901170 PMID:22994785 PMID:23296741 PMID:23298314 PMID:23329222 PMID:23334666 PMID:23415889 PMID:23469205 PMID:23713947 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24506336 PMID:24599715 PMID:24713400 PMID:24723567 PMID:24728327 PMID:24880342 PMID:24884479 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25741868 PMID:25798211 PMID:26083025 PMID:26084796 PMID:26270727 PMID:26332814 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26687385 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27443514 PMID:27488870 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28166811 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28724667 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28981386 PMID:29146883 PMID:29335925 PMID:29351919 PMID:29356917 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29922827 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30152102 PMID:30287823 PMID:30303537 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30441849 PMID:30580288 PMID:30672594 PMID:30676620 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31214250 PMID:31220302 PMID:31300551 PMID:31360903 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31512090 PMID:31614935 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32119081 PMID:32243226 PMID:32255556 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32566746 PMID:32658311 PMID:33134171 PMID:33471991 PMID:33558524 PMID:33670479 PMID:33986034 More...
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Cited2
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
IAGP
DNA:deletion (rat)
RGD
PMID:19825367
RGD:5147850
NCBI chr 1:12,312,426...12,314,869
Ensembl chr 1:12,312,160...12,314,897
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Cxcr4
C-X-C motif chemokine receptor 4
ameliorates
ISO
human cells in mouse model
RGD
PMID:31571016
RGD:152025557
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17279585
NCBI chr12:9,207,986...9,230,038
Ensembl chr12:9,015,383...9,285,008
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Ddr1
discoidin domain receptor tyrosine kinase 1
severity
ISO
protein:increased expression:bone (human) human cells in mouse model
RGD
PMID:29039472 PMID:29039472
RGD:151347601 , RGD:151347601
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Dhfr
dihydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19159907
NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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E2f1
E2F transcription factor 1
severity
ISO
protein:increased expression:bone (human) human cells in mouse model
RGD
PMID:29039472 PMID:29039472
RGD:151347601 , RGD:151347601
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Efemp2
EGF containing fibulin extracellular matrix protein 2
exacerbates
ISO
human EFEMP2 knockdown cell line in a mouse model
RGD
PMID:28339091
RGD:42722011
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22235915
NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egr1
early growth response 1
ISO
mRNA:decreased expression:tumor (human)
RGD
PMID:21283769
RGD:5131662
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
severity
ISO
DNA:silent mutation:cds:p.N118N (human)
RGD
PMID:23098477
RGD:13207418
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Esrra
estrogen related receptor, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24967384
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14767549 PMID:26265454
RGD:11532507
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Folr1
folate receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17473184
NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667
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Grm4
glutamate metabotropic receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23727862
NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,481,124...5,572,821
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Gstm3
glutathione S-transferase mu 3
ISO
RGD
PMID:20577141
RGD:5135042
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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Gstm5
glutathione S-transferase, mu 5
ISO
RGD
PMID:20577141
RGD:5135042
NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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Gstp1
glutathione S-transferase pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17152492
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
treatment
ISO
RGD
PMID:19449377
RGD:13792789
NCBI chr X:21,089,152...21,091,597
Ensembl chr X:21,089,122...21,109,488
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Il3
interleukin 3
IMP
RGD
PMID:11268282
RGD:2317666
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645001
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Kcnh1
potassium voltage-gated channel subfamily H member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248279
NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740
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Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23886186
NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
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Lzic
leucine zipper and CTNNBIP1 domain containing
IEP
RGD
PMID:19444910
RGD:2314410
NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:159,920,439...159,939,685
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22235915
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir106b
microRNA 106b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22510560
NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425
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Mir130b
microRNA 130b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22510560
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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Mir328
microRNA 328
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25605016
NCBI chr19:33,184,766...33,184,849
Ensembl chr19:33,184,766...33,184,849
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Mir93
microRNA 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22510560
NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25605016
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
disease_progression
ISO
RGD
PMID:25503122
RGD:126848779
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Msh6
mutS homolog 6
disease_progression
ISO
RGD
PMID:25503122
RGD:126848779
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Mst1r
macrophage stimulating 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22235915
NCBI chr 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:19159907
RGD:6893634
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24646477
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17279585
NCBI chr11:62,460,213...62,496,665
Ensembl chr11:62,460,213...62,496,658
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Phlda2
pleckstrin homology-like domain, family A, member 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22021909
NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:198,696,897...198,697,836
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Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA:increased expression:muscle tissue (human)
RGD
PMID:22390931
RGD:11535057
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prdx2
peroxiredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23911960
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
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Pth
parathyroid hormone
ISO
human protein in rat model
RGD
PMID:22688001
RGD:7242897
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptprb
protein tyrosine phosphatase, receptor type, B
disease_progression
ISO
mRNA:decreased expression:bone (human)
RGD
PMID:31829261
RGD:151361289
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Osteosarcoma, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:27137931 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 More...
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rfc1
replication factor C subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19159907
NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370
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Rgs1
regulator of G-protein signaling 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr13:56,018,529...56,022,939
Ensembl chr13:56,018,554...56,022,984
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Runx2
RUNX family transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24646477 PMID:25307878
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Serpinf1
serpin family F member 1
treatment
ISO
human gene in rat model human protein in a mouse model
RGD
PMID:17479108 PMID:17458711
RGD:8633656 , RGD:8655561
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27793039
NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
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Taf15
TATA-box binding protein associated factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr10:68,272,900...68,304,951
Ensembl chr10:68,272,969...68,304,949
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Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
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Tp53
tumor protein p53
ISO IMP
ClinVar Annotator: match by term: Osteosarcoma, somatic CTD Direct Evidence: marker/mechanism CTD Direct Evidence: marker/mechanism|therapeutic
OMIM ClinVar CTD RGD
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8633021 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16211088 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27137931 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31775759 PMID:32000721 PMID:27528400 More...
RGD:12738450
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20158913
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28107196
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Zw10
zw10 kinetochore protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14767549
NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805
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