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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
For additional species annotation, visit the Alliance of Genome Resources.


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 1:4,753,141...5,165,859
Ensembl chr 1:4,753,144...5,165,859
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 histone family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
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 OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110, PMID:9268097, PMID:9649554, PMID:9745456, PMID:10523019, PMID:17164305, PMID:18559376, PMID:25741868, PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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 DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Multiple congenital exostosis
ClinVar Annotator: match by term: Multiple exostoses
ClinVar Annotator: match by term: MULTIPLE OSTEOCHONDROMAS
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)
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1816274, PMID:7550340, PMID:8981950, PMID:9150727, PMID:9326317, PMID:9463333, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11169766, PMID:11170095, PMID:11342960, PMID:11391482, PMID:11432960, PMID:11668521, PMID:12032595, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15253765, PMID:15586175, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:18165274, PMID:18330718, PMID:18373409, PMID:18976157, PMID:19344451, PMID:19810120, PMID:19839753, PMID:20025490, PMID:20080592, PMID:20418910, PMID:21039224, PMID:21280143, PMID:21499719, PMID:21520333, PMID:21703028, PMID:22258776, PMID:22382802, PMID:22913777, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24120389, PMID:24496678, PMID:24532482, PMID:24728327, PMID:25230886, PMID:25468659, PMID:25541963, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26622573, PMID:26690531, PMID:26961984, PMID:28492532, PMID:28690282, PMID:29126381, PMID:29529714, PMID:29620724, PMID:29989442, PMID:30311386, PMID:30334991, PMID:8981950, PMID:17767039, PMID:17767039, PMID:25421355, PMID:12490068, PMID:24297320, PMID:18330718, PMID:26839764 RGD:1598916, RGD:13208236, RGD:13208236, RGD:13208234, RGD:13208233, RGD:13208229, RGD:13208228, RGD:13208227 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
JBrowse link
G Ext2 exostosin glycosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23439489 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21533187 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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:11279527, PMID:24088041, PMID:24781210, PMID:25504735, PMID:25741868, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 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 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
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
ClinVar Annotator: match by OMIM:156250
OMIM
ClinVar
PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12634870, PMID:12717436, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14961557, PMID:14974085, PMID:15001945, PMID:15009076, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15389709, PMID:15520399, PMID:15539800, PMID:15712196, PMID:15723289, PMID:15761018, PMID:15834506, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16124853, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16377799, PMID:16399795, PMID:16498234, PMID:16523510, PMID:16638574, PMID:16679933, PMID:16804314, PMID:17020470, PMID:17056636, PMID:17143285, PMID:17222357, PMID:17339163, PMID:17361219, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17661820, PMID:17935252, PMID:18253957, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18470943, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19020799, PMID:19054014, PMID:19077116, PMID:19133693, PMID:19174044, PMID:19206169, PMID:19352411, PMID:19449407, PMID:19467855, PMID:19509418, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19825837, PMID:19864201, PMID:20186801, PMID:20308328, PMID:20493809, PMID:20535210, PMID:20577567, PMID:20718194, PMID:20883402, PMID:20979190, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21747628, PMID:21910245, PMID:21934682, PMID:22190897, PMID:22315187, PMID:22411627, PMID:22465605, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22781091, PMID:22822385, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23334668, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23813970, PMID:24033266, PMID:24037001, PMID:24183200, PMID:24401936, PMID:24451042, PMID:24628801, PMID:24728327, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24803665, PMID:24820750, PMID:24935154, PMID:25231023, PMID:25326637, PMID:25337068, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25862627, PMID:25884655, PMID:25912702, PMID:25917897, PMID:26206283, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26467025, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27153395, PMID:27238887, PMID:27353043, PMID:27484170, PMID:27521173, PMID:27619028, PMID:27626068, PMID:27659786, PMID:28051113, PMID:28074573, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28957739, PMID:29276006, PMID:29493581, PMID:30311386, PMID:32581362, PMID:32860008, PMID:32963807 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Metachondromatosis ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
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:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11391482, PMID:11432960, PMID:15253765, PMID:16283885, PMID:17041877, PMID:18165274, PMID:18330718, PMID:19810120, PMID:20418910, PMID:22258776, PMID:23439489, PMID:25230886, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26961984, PMID:28492532, PMID:29126381 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
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: Multiple exostoses type 2
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II
ClinVar Annotator: match by OMIM:133701
OMIM
ClinVar
PMID:8894688, PMID:9326317, PMID:9463333, PMID:10480354, PMID:10671060, PMID:10679937, PMID:10713884, PMID:10750558, PMID:11169766, PMID:11170095, PMID:11432960, PMID:11668521, PMID:12239711, PMID:12490068, PMID:15221792, PMID:15586175, PMID:15796962, PMID:16088908, PMID:16283885, PMID:17041877, PMID:17301954, PMID:17589361, PMID:18165274, PMID:18373409, PMID:18666861, PMID:18976157, PMID:19309273, PMID:19344451, PMID:19504431, PMID:19810120, PMID:19839753, PMID:20425833, PMID:21520333, PMID:22382802, PMID:22820392, PMID:23262345, PMID:23439489, PMID:23629877, PMID:24496678, PMID:24532482, PMID:24728327, PMID:24728384, PMID:25230886, PMID:25449079, PMID:25468659, PMID:25591329, PMID:25741868, PMID:25744876, PMID:26246518, PMID:26961984, PMID:28492532, PMID:28690282, PMID:28849184, PMID:29126381, PMID:29529714, PMID:30075207, PMID:30288735, PMID:30334991, PMID:30997052 NCBI chr 3:82,602,784...82,734,557
Ensembl chr 3:82,602,785...82,734,533
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 chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
Osteochondromatosis 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: OSTEOCHONDROMATOSIS ClinVar PMID:7550340, PMID:8981950, PMID:9326317, PMID:9521425, PMID:9620772, PMID:10639137, PMID:10679296, PMID:10679937, PMID:10713884, PMID:11391482, PMID:11432960, PMID:15253765, PMID:16283885, PMID:17041877, PMID:18165274, PMID:18330718, PMID:19810120, PMID:20418910, PMID:22258776, PMID:23439489, PMID:25230886, PMID:25741868, PMID:26239617, PMID:26515642, PMID:26961984, PMID:28492532, PMID:29126381 NCBI chr 7:92,605,008...92,881,392
Ensembl chr 7:92,605,728...92,882,068
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 1:40,816,130...40,906,582
Ensembl chr 1:40,816,107...40,906,581
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Osteogenic sarcoma 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 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Ccnb3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:16,300,752...16,402,206
Ensembl chr  X:16,337,102...16,402,202
JBrowse link
G Cdc5l cell division cycle 5-like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr 9:17,949,764...17,988,514
Ensembl chr 9:17,949,764...17,988,509
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, PMID:9166859, PMID:9389568, PMID:10389768, PMID:10719365, PMID:11687599, PMID:15075790, PMID:16234564, PMID:16818274, PMID:16896043, PMID:17218939, PMID:18335566, PMID:18519632, PMID:21462282, PMID:24733792, PMID:25741868, PMID:25980754, PMID:26467025, PMID:26670561, PMID:26681309, PMID:27756164, PMID:27960642, PMID:28492532, PMID:28640387, PMID:28765326, PMID:30207590, PMID:30339520, PMID:31921681 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic
ClinVar Annotator: match by term: Osteogenic sarcoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:259500
OMIM
ClinVar
CTD
PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11746983, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14612911, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15087378, PMID:15095295, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:15649950, PMID:15810020, PMID:16257342, PMID:16492927, PMID:16551709, PMID:16835864, PMID:16880452, PMID:16883537, PMID:16914568, PMID:16982735, PMID:17085682, PMID:17721994, PMID:18085035, PMID:18172190, PMID:18484200, PMID:18571837, PMID:18706089, PMID:19030985, PMID:19338683, PMID:19782031, PMID:19805189, PMID:21059199, PMID:21244692, PMID:21618645, PMID:21744992, PMID:21807500, PMID:21876083, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23296741, PMID:23318652, PMID:23334666, PMID:23469205, PMID:23806170, PMID:23960188, PMID:24033266, PMID:24390236, PMID:24506336, PMID:24628946, PMID:24713400, PMID:24728327, PMID:24884479, PMID:25117502, PMID:25186627, PMID:25231023, PMID:25431674, PMID:25452441, PMID:25503501, PMID:25525159, PMID:25583358, PMID:25629968, PMID:25741868, PMID:25884806, PMID:26084796, PMID:26270727, PMID:26446916, PMID:26467025, PMID:26506619, PMID:26580448, PMID:26641009, PMID:26681312, PMID:26787654, PMID:26822237, PMID:26822949, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27442652, PMID:27443514, PMID:27595995, PMID:27616075, PMID:27621404, PMID:27751358, PMID:27798748, PMID:27806230, PMID:27878467, PMID:27978560, PMID:28125075, PMID:28135139, PMID:28135145, PMID:28195393, PMID:28211887, PMID:28492532, PMID:28495237, PMID:28503720, PMID:28514723, PMID:28553140, PMID:28580595, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28828701, PMID:28874143, PMID:28944238, PMID:28961279, PMID:28981386, PMID:29020732, PMID:29335925, PMID:29338689, PMID:29351919, PMID:29470806, PMID:29489754, PMID:29506128, PMID:29520813, PMID:29596542, PMID:29667044, PMID:29785153, PMID:29902706, PMID:29958926, PMID:30152102, PMID:30287823, PMID:30311386, PMID:30344923, PMID:30374176, PMID:30851065, PMID:31050813, PMID:31415627, PMID:31422574, PMID:31843900, PMID:32566746 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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 1:12,823,363...12,825,806
Ensembl chr 1:12,823,363...12,825,786
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Egr1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Osteosarcoma ClinVar PMID:19434073, PMID:19470925, PMID:24033266, PMID:24728327, PMID:25741868 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 NCBI chr 1:222,168,729...222,178,842
Ensembl chr 1:222,168,730...222,178,725
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr 1:166,934,457...166,945,864
Ensembl chr 1:166,934,460...166,943,592
JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr20:6,745,682...6,791,521
Ensembl chr20:6,745,682...6,791,519
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:21,696,796...21,699,241
Ensembl chr  X:21,696,772...21,699,241
JBrowse link
G Il3 interleukin 3 IMP RGD PMID:11268282 RGD:2317666 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr18:47,500,320...47,577,819
Ensembl chr18:47,500,330...47,577,819
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing IEP RGD PMID:19444910 RGD:2314410 NCBI chr 5:166,430,305...166,443,485
Ensembl chr 5:166,430,400...166,442,284
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mir106b microRNA 106b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:19,307,752...19,307,833
Ensembl chr12:19,307,752...19,307,833
JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr11:88,129,773...88,129,854
Ensembl chr11:88,129,773...88,129,854
JBrowse link
G Mir328 microRNA 328 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:37,263,199...37,263,282
Ensembl chr19:37,263,199...37,263,282
JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:19,307,543...19,307,629
Ensembl chr12:19,307,543...19,307,629
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 8:116,686,601...116,700,132
Ensembl chr 8:116,686,601...116,700,132
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chr 1:216,701,345...216,704,479
Ensembl chr 1:216,702,319...216,703,534
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr19:26,084,816...26,090,095
Ensembl chr19:26,084,903...26,090,094
JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Osteosarcoma
ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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:27137931, PMID:27582626, PMID:28492532, PMID:28575107, PMID:28724667 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr13:61,066,196...61,070,772
Ensembl chr13:61,066,153...61,070,599
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477, PMID:25307878 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr10:70,689,863...70,721,892
Ensembl chr10:70,689,863...70,721,892
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic
ClinVar Annotator: match by term: Osteogenic sarcoma
CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:1565143, PMID:1565144, PMID:1683921, PMID:7732013, PMID:7887414, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8401536, PMID:8423216, PMID:8633021, PMID:8825920, PMID:9047394, PMID:9242456, PMID:9569050, PMID:9865903, PMID:10411893, PMID:10797439, PMID:10864200, PMID:11040944, PMID:11101847, PMID:11139324, PMID:11391594, PMID:11479205, PMID:11782540, PMID:12007217, PMID:12085209, PMID:12619118, PMID:12672316, PMID:12826609, PMID:15004724, PMID:15173255, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15951970, PMID:15977174, PMID:16211088, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:17224268, PMID:17289876, PMID:17540308, PMID:17606709, PMID:17636407, PMID:17727479, PMID:18391940, PMID:18511570, PMID:19127115, PMID:19367569, PMID:19556618, PMID:19881536, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20516128, PMID:20689556, PMID:20693561, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21484931, PMID:21512767, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22006311, PMID:22110706, PMID:22186996, PMID:22233476, PMID:22652532, PMID:22698404, PMID:22710932, PMID:22811390, PMID:22887876, PMID:22899716, PMID:22915647, PMID:23031740, PMID:23161690, PMID:23246812, PMID:23263379, PMID:23484829, PMID:23538418, PMID:23792586, PMID:23894400, PMID:24033266, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24641375, PMID:24651012, PMID:24677579, PMID:24728327, PMID:24810334, PMID:24868540, PMID:25157968, PMID:25527155, PMID:25584008, PMID:25741868, PMID:25787918, PMID:25952993, PMID:26086041, 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:28125078, PMID:28349240, PMID:28369373, PMID:28453743, PMID:28492532, PMID:28772286, PMID:28861920, PMID:28975465, PMID:29478780, PMID:29489754, PMID:29945567, PMID:30076369, PMID:30224644, PMID:30287823, PMID:30327374, PMID:30374176, PMID:30720243, PMID:30883245, PMID:31016814, PMID:31159747, PMID:31775759 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Osteosarcoma
ClinVar Annotator: match by term: Osteoblastic Osteosarcoma
ClinVar PMID:25741868, PMID:26822237 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Zw10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 8:53,365,881...53,390,742
Ensembl chr 8:53,365,857...53,390,930
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 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Il6st interleukin 6 signal transducer ISO ClinVar Annotator: match by term: Stuve-Wiedemann syndrome ClinVar NCBI chr 2:44,279,199...44,319,427
Ensembl chr 2:44,289,393...44,314,944
JBrowse link
G Lifr LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome
ClinVar Annotator: match by OMIM:601559
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14740318, PMID:19603067, PMID:24033266, PMID:24988918, PMID:25326635, PMID:25540807, PMID:25741868, PMID:26752647, PMID:28334964, PMID:28492532 NCBI chr 2:56,424,910...56,489,346
Ensembl chr 2:56,426,367...56,489,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          Connective Tissue Neoplasms 1391
            Bone Tissue Neoplasms 69
              Osteochondroma + 9
              Osteoma + 0
              bone giant cell tumor + 1
              ossifying fibroma 1
              osteoblastoma 0
              osteosarcoma + 57
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.