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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 Tissue Neoplasms
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Accession:DOID:9007603 term browser browse the term
Definition:Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones.
Synonyms:exact_synonym: Bony Tissue Neoplasm;   bone tissue neoplasm;   bony tissue neoplasms
 primary_id: MESH:D018213
 alt_id: RDO:0006252


show annotations for term's descendants           Sort by:
Bone Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:95,065,085...95,076,695
Ensembl chr13:95,065,085...95,076,695 		JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:2598075 PMID:2797856 PMID:2936834 PMID:3313277 PMID:9536098 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667 		JBrowse link
G 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 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7795591 PMID:7881418 More... NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3975110 PMID:8445622 PMID:9268097 PMID:9536098 PMID:9649554 More... NCBI chr 8:119,572,295...119,597,405
Ensembl chr 8:119,575,868...119,598,108 		JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO
ISS 		DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis
OMIM:133700 | OMIM:133701 | OMIM:600209
DNA:missense mutation:cds:p.Y271H (human)
DNA:frameshift mutation:cds:p.S442IfsX1 (human)
DNA:frameshift mutation:cds:p.K218fsX247 (human)
DNA:nonsense mutation:cds:p.Y634X (human)
DNA:missense mutation, frameshift mutation:cds:p.R340L, p.K177KfsX15 (human)
DNA:deletion:cds:p.V545_E574del (human)
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:133700 | OMIM:133701 | OMIM:600209
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas 		CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:23439489 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:100,120,776...100,253,596 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfatc2 nuclear factor of activated T-cells 2 ISO ClinVar Annotator: match by term: Joint contractures, osteochondromas, and B-cell lymphoma OMIM
ClinVar		 PMID:25741868 PMID:35789258 NCBI chr 3:177,615,189...177,747,493
Ensembl chr 3:177,618,314...177,747,380 		JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:9536098 PMID:11279527 PMID:16199547 PMID:16927315 PMID:17576681 More... NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
localized osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccng1 cyclin G1 treatment ISO human cells in mouse model RGD PMID:9322869 RGD:151356969 NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,677,885...25,683,766 		JBrowse link
metachondromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Metachondromatosis
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
Multiple Exostoses Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I OMIM
ClinVar		 PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567 		JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I ClinVar PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:100,120,776...100,253,596 		JBrowse link
Multiple Exostoses Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 OMIM
ClinVar		 PMID:3080661 PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 More... NCBI chr 3:100,120,776...100,253,424
Ensembl chr 3:100,120,776...100,253,596 		JBrowse link
ossifying fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		JBrowse link
Osteochondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20577567 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:43,199,008...43,225,557 		JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:13,360,376...13,402,254 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr17:86,240,683...86,250,044
Ensembl chr17:86,243,491...86,250,024 		JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,866,997...11,946,923 		JBrowse link
G Cbl Cbl proto-oncogene ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067 		JBrowse link
G Ccnb3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801 		JBrowse link
G Cdc5l cell division cycle 5-like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr 9:23,062,397...23,100,901
Ensembl chr 9:23,062,205...23,100,899 		JBrowse link
G 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 More... NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteosarcoma, somatic 		CTD
ClinVar
OMIM		 PMID:2598075 PMID:2797856 PMID:2936834 PMID:3313277 PMID:9536098 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667 		JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP DNA:deletion (rat) RGD PMID:19825367 RGD:5147850 NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:14,103,457...14,134,782 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ameliorates ISO human cells in mouse model RGD PMID:31571016 RGD:152025557 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr12:14,321,771...14,343,886
Ensembl chr12:14,321,771...14,343,857 		JBrowse link
G 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 chr20:3,047,269...3,069,277
Ensembl chr20:3,050,375...3,069,276 		JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 2:25,320,895...25,346,004 JBrowse link
G 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 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563 		JBrowse link
G 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 1:212,211,057...212,218,739
Ensembl chr 1:212,210,972...212,218,739 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		JBrowse link
G Egr1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843 		JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:103,405,788...103,431,649 		JBrowse link
G 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 1:88,099,308...88,135,966
Ensembl chr 1:88,118,891...88,139,120 		JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 PMID:34524571 NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:213,533,310...213,543,811 		JBrowse link
G 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 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183 		JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr 1:165,631,462...165,650,430
Ensembl chr 1:165,631,462...165,642,669 		JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr20:5,486,024...5,574,668
Ensembl chr20:5,482,977...5,574,668 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:198,295,442...198,300,742
Ensembl chr 2:198,295,442...198,300,667 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:198,219,769...198,222,732
Ensembl chr 2:198,219,647...198,222,731 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705 		JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:24,568,551...24,571,012
Ensembl chr  X:24,568,551...24,574,681 		JBrowse link
G Il3 interleukin 3 IMP RGD PMID:11268282 RGD:2317666 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr13:106,253,101...106,555,712
Ensembl chr13:106,253,213...106,555,710 		JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810 		JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing IEP RGD PMID:19444910 RGD:2314410 NCBI chr 5:165,211,359...165,224,569
Ensembl chr 5:165,211,302...165,224,568 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mir106b microRNA 106b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:22,157,053...22,157,134 JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr11:97,384,380...97,384,461
Ensembl chr11:97,384,380...97,384,461 		JBrowse link
G Mir328 microRNA 328 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:50,094,691...50,094,774 JBrowse link
G Mir494 microRNA 494 severity
ameliorates 		ISO RGD PMID:35117781 PMID:35117781 RGD:156430319, RGD:156430319 NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:134,550,114...134,550,198 		JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:22,156,844...22,156,930 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503 		JBrowse link
G Msh6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:34508303 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr11:75,965,717...76,006,733
Ensembl chr11:75,965,632...76,002,380 		JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chr 1:208,126,302...208,127,241
Ensembl chr 1:208,126,302...208,127,920 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr19:40,085,788...40,091,083
Ensembl chr19:40,084,430...40,091,006 		JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr 7:10,493,199...10,502,957
Ensembl chr 7:10,493,200...10,502,957 		JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B disease_progression ISO mRNA:decreased expression:bone (human) RGD PMID:31829261 RGD:151361289 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7795591 PMID:8364580 PMID:9311732 PMID:15776430 PMID:15884040 More... NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026 		JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr13:58,568,844...58,573,187
Ensembl chr13:58,568,844...58,573,187 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G 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 chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr10:68,770,408...68,802,458
Ensembl chr10:68,770,430...68,802,458 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
G Tp53 tumor protein p53 ISO
ISS
IMP 		CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Osteosarcoma, somatic
OMIM:259500 		CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... RGD:12738450 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr16:1,033,983...1,239,425
Ensembl chr16:1,034,020...1,239,406 		JBrowse link
G Zw10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 8:58,292,959...58,317,881
Ensembl chr 8:58,293,018...58,318,279 		JBrowse link
peripheral osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: High grade surface osteosarcoma ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
Stuve-Wiedemann Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:25741868 PMID:31914175 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:45,799,380...45,843,182 		JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:57,952,975...58,020,364 		JBrowse link
Stuve-Wiedemann Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Stüve-Wiedemann syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:154,960,818...155,061,971
Ensembl chr 5:154,960,846...155,061,971 		JBrowse link
G Lifr LIF receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1
ClinVar Annotator: match by term: LIFR-related condition | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 		OMIM
CTD
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:16969869 PMID:17576681 More... NCBI chr 2:57,951,787...58,020,357
Ensembl chr 2:57,952,975...58,020,364 		JBrowse link
Stuve-Wiedemann Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31914175 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:45,799,380...45,843,182 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          Connective Tissue Neoplasms 758
            Bone Tissue Neoplasms 84
              Osteochondroma + 9
              Osteoma + 0
              bone giant cell tumor + 1
              ossifying fibroma 1
              osteoblastoma 0
              osteosarcoma + 72
paths to the root