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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 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416 		JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 disease_progression
exacerbates		 ISO protein:increased expression:bone tissue (human)
mRNA, protein:increased expression:bone tissue (human )		 RGD PMID:27157136 PMID:28339091 RGD:42722011 RGD:42722013 NCBI chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		JBrowse link
G 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 More... NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More... NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYL3 myosin light chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr20:41,941,617...41,947,085
Ensembl chr20:41,933,105...42,073,779 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794 		JBrowse link
hereditary multiple exostoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCN3 cellular communication network factor 3 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,507,586...18,515,755
Ensembl chr13:18,507,580...18,514,619 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:19,033,423...19,249,189
Ensembl chr13:19,011,897...19,248,568 		JBrowse link
G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,291,168...18,331,918
Ensembl chr13:18,291,051...18,330,617 		JBrowse link
G DEPTOR DEP domain containing MTOR interacting protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,859,526...18,993,464
Ensembl chr13:18,859,634...18,988,583 		JBrowse link
G DSCC1 DNA replication and sister chromatid cohesion 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,825,522...18,841,905
Ensembl chr13:18,825,844...18,841,873 		JBrowse link
G EIF3H eukaryotic translation initiation factor 3 subunit H ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,105,960...16,201,902
Ensembl chr13:16,105,990...16,341,153 		JBrowse link
G ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,586,886...18,697,339
Ensembl chr13:18,587,129...18,697,324 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 More... NCBI chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		JBrowse link
G MAL2 mal, T cell differentiation protein 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,404,979...18,422,076
Ensembl chr13:18,406,633...18,420,469 		JBrowse link
G MED30 mediator complex subunit 30 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,928,166...16,949,503
Ensembl chr13:16,928,161...16,949,295 		JBrowse link
G MRPL13 mitochondrial ribosomal protein L13 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:19,266,373...19,313,754
Ensembl chr13:19,266,531...19,313,657 		JBrowse link
G MTBP MDM2 binding protein ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:19,313,884...19,385,370
Ensembl chr13:19,313,973...19,384,621 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RAD21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,337,563...16,368,041
Ensembl chr13:16,338,972...16,368,035 		JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,602,255...16,637,299
Ensembl chr13:16,601,912...16,635,880 		JBrowse link
G SNTB1 syntrophin beta 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:19,394,608...19,627,278
Ensembl chr13:19,397,509...19,627,403 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,724,408...18,824,025
Ensembl chr13:18,729,234...18,823,979 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:10679937 PMID:11391482 PMID:19810120 PMID:28492532 PMID:29126381 NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666 		JBrowse link
G UTP23 UTP23 small subunit processome component ISO ClinVar Annotator: match by term: Multiple congenital exostosis ClinVar PMID:28492532 NCBI chr13:16,213,131...16,219,726
Ensembl chr13:16,213,159...16,339,964 		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 OMIM NCBI chr24:37,606,977...37,734,813
Ensembl chr24:37,609,561...37,771,132 		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 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G LDLRAD2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:77,368,930...77,377,385
Ensembl chr 2:77,368,634...77,377,126 		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 chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211 		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 OMIM
ClinVar		 PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr26:9,970,416...9,975,897 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 chr13:17,172,497...17,457,084
Ensembl chr13:17,172,705...17,456,469 		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 chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		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:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 More... NCBI chr18:44,987,310...45,122,339
Ensembl chr18:44,987,748...45,129,974 		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 chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111 		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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		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 ISO mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chr 1:41,614,893...41,712,350
Ensembl chr 1:41,614,714...41,709,798 		JBrowse link
G 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 More... NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Osteosarcoma, somatic ClinVar PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More... NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766 		JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608 		JBrowse link
G CBL Cbl proto-oncogene ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G CCNB3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:42,951,030...43,041,616
Ensembl chr  X:42,949,558...43,012,122 		JBrowse link
G CDC5L cell division cycle 5 like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801 		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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More... NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO DNA:deletion (rat) RGD PMID:19825367 RGD:5147850 NCBI chr 1:31,522,911...31,525,342
Ensembl chr 1:31,523,799...31,524,995 		JBrowse link
G CXCR4 C-X-C motif chemokine receptor 4 ameliorates ISO human cells in mouse model RGD PMID:31571016 RGD:152025557 NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352 		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 RGD:151347601 NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543 		JBrowse link
G DHFR dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 3:26,521,214...26,556,065 JBrowse link
G E2F1 E2F transcription factor 1 severity ISO human cells in mouse model
protein:increased expression:bone (human)		 RGD PMID:29039472 RGD:151347601 NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656 		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 chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631 		JBrowse link
G EGR1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 8:41,354,400...41,371,676
Ensembl chr 8:41,351,244...41,371,056 		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 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		JBrowse link
G ESRRA estrogen related receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 PMID:34524571 NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355 		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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838 		JBrowse link
G GRM4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr12:3,346,395...3,459,722
Ensembl chr12:3,346,395...3,459,878 		JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:45,165,272...45,167,683
Ensembl chr  X:45,165,272...45,167,574 		JBrowse link
G IL3 interleukin 3 ISO RGD PMID:11268282 RGD:2317666 NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr 7:9,317,804...9,631,144
Ensembl chr 7:9,252,488...9,631,150 		JBrowse link
G LOC609612 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr21:25,944,350...25,951,010 JBrowse link
G LOX lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr11:12,023,645...12,040,015
Ensembl chr11:12,027,250...12,039,819 		JBrowse link
G LZIC leucine zipper and CTNNBIP1 domain containing ISO RGD PMID:19444910 RGD:2314410 NCBI chr 5:63,110,854...63,122,488
Ensembl chr 5:63,113,191...63,122,750 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MIR106B microRNA mir-106b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr 6:9,498,558...9,498,616
Ensembl chr 6:9,498,558...9,498,616 		JBrowse link
G MIR302B microRNA mir-302b ISO CTD Direct Evidence: therapeutic CTD PMID:23845851 NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574 		JBrowse link
G MIR494 microRNA mir-494 severity
ameliorates		 ISO RGD PMID:35117781 RGD:156430319 NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465 		JBrowse link
G MIR93 microRNA mir-93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr 6:9,498,780...9,498,840 JBrowse link
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MSH6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G MST1R macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:34508303 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G NR1I2 nuclear receptor subfamily 1 group I member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr33:23,444,367...23,456,405
Ensembl chr33:23,432,690...23,455,347 		JBrowse link
G PHLDA2 pleckstrin homology like domain family A member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682 		JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr20:57,806,450...57,818,435
Ensembl chr20:57,807,826...57,818,359 		JBrowse link
G PTH parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B disease_progression ISO mRNA:decreased expression:bone (human) RGD PMID:31829261 RGD:151361289 NCBI chr10:12,267,891...12,384,522
Ensembl chr10:12,241,716...12,384,435 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More... NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726 		JBrowse link
G RFC1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 3:73,062,292...73,136,576
Ensembl chr 3:73,062,329...73,135,096 		JBrowse link
G RGS1 regulator of G protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr38:6,372,451...6,376,427
Ensembl chr38:6,372,558...6,376,315 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785 		JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human gene in rat model
human protein in a mouse model		 RGD PMID:17458711 PMID:17479108 RGD:8633656 RGD:8655561 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765 		JBrowse link
G SIRT1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr34:14,853,000...14,855,153 JBrowse link
G TAF15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 9:37,842,772...37,873,302
Ensembl chr 9:37,842,772...37,873,094 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic OMIM
ClinVar		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr 4:28,807,368...29,035,946
Ensembl chr 4:28,854,908...29,045,986 		JBrowse link
G ZW10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 5:19,496,531...19,527,205
Ensembl chr 5:19,496,611...19,527,200 		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 chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753 		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 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		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 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124 		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 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		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 2:77,263,534...77,366,558
Ensembl chr 2:77,301,858...77,367,724 		JBrowse link
G LIFR LIF receptor subunit alpha ISO 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 1		 OMIM
ClinVar		 PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 More... NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127 		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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G CIMIP2B ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823 		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 2:43,214,050...43,273,014
Ensembl chr 2:43,214,050...43,248,124 		JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15727
    disease of anatomical entity 15373
      musculoskeletal system disease 7960
        connective tissue disease 5484
          Connective Tissue Neoplasms 1776
            Bone Tissue Neoplasms 108
              Osteochondroma + 33
              Osteoma + 0
              bone giant cell tumor + 1
              ossifying fibroma 1
              osteoblastoma 0
              osteosarcoma + 72
paths to the root