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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:musculoskeletal system benign neoplasm
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Accession:DOID:0060099 term browser browse the term
Definition:An organ system benign neoplasm that is located_in the muscular and/or skeletal organs.
Synonyms:primary_id: RDO:9004666
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145
JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105, PMID:16454848, PMID:18199528, PMID:21859464, PMID:24033266, PMID:25637381, PMID:25741868, PMID:26580448, PMID:27535533, PMID:28492532, PMID:28503720 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G FOXO1 forkhead box O1 ISO OMIM NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
JBrowse link
G PAX3 paired box 3 ISO OMIM NCBI chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
G PAX7 paired box 7 ISO OMIM NCBI chr 2:79,813,835...79,952,490
Ensembl chr 2:79,815,748...79,915,003
JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr23:44,277,707...44,409,911
Ensembl chr23:44,278,557...44,410,007
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr 9:308,017...331,238
Ensembl chr 9:307,028...331,243
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
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
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:20484225, PMID:21505157, PMID:21752896, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24781757, PMID:25494863, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28819017, PMID:29872718, PMID:30068732, PMID:30311386 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702, PMID:16288654, PMID:16317055, PMID:16912137, PMID:16916404, PMID:17200167, PMID:17667967, PMID:17884808, PMID:19001511, PMID:19215943, PMID:19802898, PMID:21820839, PMID:23282968, PMID:24033266, PMID:25371406, PMID:25683602, PMID:25741868, PMID:25972245, PMID:26173966, PMID:26467025, PMID:26916530, PMID:28070496, PMID:28152038, PMID:28349240, PMID:28374168, PMID:28492532, PMID:28738844, PMID:29386252 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451, PMID:17667967, PMID:17804857, PMID:19351833, PMID:21173220, PMID:24402737, PMID:26173966, PMID:28492532 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3B H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 9:4,805,655...4,808,076
Ensembl chr 9:4,805,650...4,833,503
JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTAP methylthioadenosine phosphorylase ISO OMIM NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504
JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102
JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:34,621,314...34,735,502
Ensembl chr  X:34,621,886...34,645,766
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052
JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:12537652, PMID:18033691, PMID:19389263, PMID:21153778, PMID:22949387, PMID:23047549, PMID:24033266, PMID:25741868, PMID:26092435, PMID:26333163, PMID:26344056, PMID:26951660, PMID:28125075, PMID:28492532, PMID:29212164 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr21:40,257,792...40,260,461
Ensembl chr21:40,258,027...40,259,712
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011, PMID:26822237 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr20:41,675,539...41,800,697
Ensembl chr20:41,675,599...41,800,612
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868, PMID:28492532 NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251
JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12973667, PMID:14508707 RGD:1599125 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263
JBrowse link
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
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Fibroma ClinVar PMID:30311386 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
Fibromatosis, Abdominal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFHAS1 malignant fibrous histiocytoma amplified sequence 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chr16:35,579,531...35,676,552
Ensembl chr16:35,579,585...35,674,063
JBrowse link
G MMP21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr28:34,936,976...34,944,110
Ensembl chr28:34,935,186...34,944,316
JBrowse link
hereditary desmoid disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO OMIM NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: DESMOID TUMOR CAUSED BY SOMATIC MUTATION ClinVar PMID:9500465, PMID:9927029, PMID:10398436, PMID:10435629, PMID:10655994, PMID:26619011, PMID:26822237 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLRK1 killer cell lectin like receptor K1 treatment ISO RGD PMID:15048723 RGD:9685182 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr38:5,868,822...5,876,539
Ensembl chr38:5,874,011...5,875,279
JBrowse link
G CDC73 cell division cycle 73 ISO OMIM NCBI chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111
JBrowse link
infantile myofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile myofibromatosis
CTD
ClinVar
PMID:7678051, PMID:9211853, PMID:11341328, PMID:15284236, PMID:17499702, PMID:17656670, PMID:19047372, PMID:20124286, PMID:21194675, PMID:21437241, PMID:22209699, PMID:23255827, PMID:23731537, PMID:23731542, PMID:24065723, PMID:24796542, PMID:25158255, PMID:25391964, PMID:25454926, PMID:25741868, PMID:25803852, PMID:26279204, PMID:26279649, PMID:26455322, PMID:26971580, PMID:28183292, PMID:28334876, PMID:28492532, PMID:29226947, PMID:30311386, PMID:31017643, PMID:31474318 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
Infantile Myofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Infantile myofibromatosis 1 ClinVar PMID:23731542 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO OMIM NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
Infantile Myofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH3 notch receptor 3 ISO OMIM NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMHR2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr27:1,788,420...1,795,601
Ensembl chr27:1,789,681...1,795,533
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473, PMID:11053450, PMID:11479205, PMID:11719428, PMID:11967536, PMID:12094328, PMID:12533788, PMID:12690581, PMID:14648717, PMID:14648718, PMID:14648719, PMID:15122511, PMID:15488637, PMID:15492928, PMID:15520402, PMID:16257342, PMID:16492927, PMID:16880452, PMID:17085682, PMID:18172190, PMID:19338683, PMID:19805189, PMID:21807500, PMID:21956126, PMID:22006311, PMID:22058428, PMID:22419737, PMID:22811390, PMID:22994785, PMID:23469205, PMID:24033266, PMID:24884479, PMID:25431674, PMID:25741868, PMID:26084796, PMID:26467025, PMID:26641009, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26884562, PMID:27083775, PMID:27153395, PMID:27269948, PMID:27433846, PMID:27751358, PMID:27798748, PMID:28125075, PMID:28135145, PMID:28195393, PMID:28492532, PMID:28503720, PMID:28514723, PMID:28727877, PMID:28734145, PMID:28779002, PMID:28802053, PMID:28874143, PMID:29351919, PMID:29489754, PMID:30311386 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity ISO Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) RGD PMID:15823121 RGD:2289964 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr12:3,528,818...3,538,533
Ensembl chr12:3,533,102...3,538,533
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO Uterine; protein:increased expression:tumor:10/14 tumors (71%) RGD PMID:17367465 RGD:2292170 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
JBrowse link
G MED12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr27:45,739,845...45,814,668 JBrowse link
G XRN2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr24:2,042,521...2,128,942
Ensembl chr24:2,042,888...2,128,867
JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPARGC1A PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
JBrowse link
rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:22184391 NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083, PMID:23635950, PMID:25741868, PMID:26295337, PMID:26467025 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8589730, PMID:10188893, PMID:10790213, PMID:11802209, PMID:11920621, PMID:12774040, PMID:15024741, PMID:15645491, PMID:15800615, PMID:16234499, PMID:16683254, PMID:16912212, PMID:17688236, PMID:18465347, PMID:18489799, PMID:19016756, PMID:19620486, PMID:20104584, PMID:21318380, PMID:21324516, PMID:21465317, PMID:21520333, PMID:21643751, PMID:21702907, PMID:21952622, PMID:22752604, PMID:22798144, PMID:23199084, PMID:23479189, PMID:23531862, PMID:24033266, PMID:24156927, PMID:24504028, PMID:24528374, PMID:24578176, PMID:24728189, PMID:24814045, PMID:25186627, PMID:25525159, PMID:25741868, PMID:25863477, PMID:26221963, PMID:26287763, PMID:26295337, PMID:26296701, PMID:26306726, PMID:26467025, PMID:26681312, PMID:26787237, PMID:27062684, PMID:27157322, PMID:27836010, PMID:28324225, PMID:28492532, PMID:29321669, PMID:29348823, PMID:29368341, PMID:29446198, PMID:29752822, PMID:30309222, PMID:30702160 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:17446348, PMID:20619386, PMID:22246246, PMID:25178484, PMID:28492532 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19556464, PMID:24839956, PMID:25741868, PMID:26925222, PMID:28492532, PMID:28624956, PMID:28862265, PMID:30266945 NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
JBrowse link
G FGFR4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19809159, PMID:24124571 NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17250658, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19371735, PMID:19669404, PMID:20660566, PMID:20979192, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22683711, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17250658, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19371735, PMID:19669404, PMID:20660566, PMID:20979192, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22683711, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759 NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8592341, PMID:10080150, PMID:10323887, PMID:10375096, PMID:11151427, PMID:15849733, PMID:15872200, PMID:16216036, PMID:16736289, PMID:16996571, PMID:18270343, PMID:19731080, PMID:21642682, PMID:22034109, PMID:23990280, PMID:24344984, PMID:24362816, PMID:24549055, PMID:24851142, PMID:25117503, PMID:25194673, PMID:25430799, PMID:25525159, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28874130 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:21520333, PMID:25741868, PMID:26467025, PMID:28153049, PMID:28492532, PMID:29750335, PMID:30128536, PMID:31100584, PMID:31965077 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:7655472, PMID:8069310, PMID:9783703, PMID:10090487, PMID:10543400, PMID:10607834, PMID:10712197, PMID:10862084, PMID:10980545, PMID:11258625, PMID:11857752, PMID:12112660, PMID:12566521, PMID:12746402, PMID:12807981, PMID:15627836, PMID:16944272, PMID:16961930, PMID:18041031, PMID:18484666, PMID:18546366, PMID:19076627, PMID:19221814, PMID:19292874, PMID:21354044, PMID:22155606, PMID:22190595, PMID:23222849, PMID:23404336, PMID:23668869, PMID:23758643, PMID:23913538, PMID:24033266, PMID:24932921, PMID:25324867, PMID:25325900, PMID:25741868, PMID:26056819, PMID:26478990, PMID:26908603, PMID:26973730, PMID:27171602, PMID:27482814, PMID:27862945, PMID:28492532, PMID:30311386, PMID:31533797, PMID:32860008 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD
ClinVar
PMID:2440087, PMID:7629132, PMID:10037723, PMID:15077197, PMID:16507833, PMID:18602922, PMID:18824584, PMID:19293170, PMID:20205264, PMID:21356188, PMID:21618646, PMID:23012243, PMID:25512458, PMID:25525159, PMID:26110232, PMID:26895986, PMID:28492532, PMID:28805995, PMID:32773772 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD
ClinVar
PMID:19155313 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:9259288, PMID:9467011, PMID:9856571, PMID:10848731, PMID:10923032, PMID:11274365, PMID:11504908, PMID:16773562, PMID:17286265, PMID:18767981, PMID:20085938, PMID:21194675, PMID:21956414, PMID:22266152, PMID:22381246, PMID:23335809, PMID:23470840, PMID:23764071, PMID:23934601, PMID:24033266, PMID:24345843, PMID:25157968, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28526761, PMID:28655553 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G PTMA prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr25:43,563,145...43,567,987
Ensembl chr25:43,562,395...43,675,699
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:10746566, PMID:15989954, PMID:20484225, PMID:21505157, PMID:21752896, PMID:22955521, PMID:23174939, PMID:23252569, PMID:23612575, PMID:23666964, PMID:23730622, PMID:24781757, PMID:25488574, PMID:25494863, PMID:25741868, PMID:26113600, PMID:26173966, PMID:26259135, PMID:26269449, PMID:26490314, PMID:26722403, PMID:27895137, PMID:28384794, PMID:28492532, PMID:28500238, PMID:28819017, PMID:29872718, PMID:30068732, PMID:30311386 NCBI chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:25741868 NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
G SLC22A18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006
JBrowse link
G TIMM10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr18:38,638,277...38,641,623
Ensembl chr18:38,638,696...38,641,623
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1467311, PMID:1565143, PMID:1565144, PMID:1673792, PMID:1683921, PMID:1686725, PMID:2750177, PMID:7706467, PMID:7732013, PMID:7881428, PMID:7887414, PMID:8364550, PMID:8423216, PMID:8633021, PMID:9067756, PMID:9242456, PMID:9285560, PMID:9446663, PMID:9470817, PMID:9569050, PMID:9681828, PMID:10229196, PMID:10411893, PMID:10432928, PMID:10486318, PMID:10519384, PMID:10713666, PMID:10753186, PMID:10797439, PMID:10864200, PMID:11139324, PMID:11420676, PMID:11479205, PMID:11782540, PMID:11896595, PMID:11920959, PMID:12610779, PMID:12672316, PMID:12826609, PMID:15004724, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15951970, PMID:16401470, PMID:16489069, PMID:16494995, PMID:16682957, PMID:16818505, PMID:16861262, PMID:17308077, PMID:17311302, PMID:17318340, PMID:17540308, PMID:17606709, PMID:17636407, PMID:18511570, PMID:18628487, PMID:18685109, PMID:19367287, PMID:19367569, PMID:19556618, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20455025, PMID:20516128, PMID:20522432, PMID:20693561, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21339461, PMID:21343334, PMID:21348412, PMID:21464421, PMID:21483000, PMID:21484931, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22110706, PMID:22170717, PMID:22186996, PMID:22319594, PMID:22811390, PMID:22899716, PMID:22915647, PMID:23161690, PMID:23175693, PMID:23246812, PMID:23538418, PMID:23625637, PMID:23894400, PMID:24033266, PMID:24307375, PMID:24381225, PMID:24382691, PMID:24487413, PMID:24501221, PMID:24549055, PMID:24641375, PMID:24651012, PMID:24677579, PMID:24728327, PMID:24764719, PMID:24810334, PMID:25157968, PMID:25234657, PMID:25326637, PMID:25503501, PMID:25525159, PMID:25584008, PMID:25637381, PMID:25741868, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26086041, PMID:26206375, PMID:26230955, PMID:26467025, PMID:26585234, PMID:26619011, PMID:26628864, PMID:26681312, PMID:26818906, PMID:26822237, PMID:26845104, PMID:27189670, PMID:27276561, PMID:27328919, PMID:27374712, PMID:27463065, PMID:27501770, PMID:27626311, PMID:27680515, PMID:27683180, PMID:27895058, PMID:27959731, PMID:28349240, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28492532, PMID:28861920, PMID:29324801, PMID:29478780, PMID:29489754, PMID:29979965, PMID:30076369, PMID:30092803, PMID:30107858, PMID:30224644, PMID:30327374, PMID:31775759 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:16116481 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
Rhabdomyosarcoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC22A18 solute carrier family 22 member 18 ISO OMIM NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006
JBrowse link
Rhabdomyosarcoma, Embryonal, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO OMIM NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879
JBrowse link
smooth muscle tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382
JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNRC6B trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393
JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BET1L Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:18058223, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30851065 NCBI chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412
JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr10:8,348,101...8,491,435 JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393
JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2L1 BCL2 like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      musculoskeletal system disease 5202
        musculoskeletal system benign neoplasm 79
          connective tissue benign neoplasm + 29
          muscle benign neoplasm + 54
Path 2
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        peripheral nervous system disease 2397
          neuropathy 2239
            neuromuscular disease 1742
              muscular disease 1181
                muscle tissue disease 803
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 79
                      connective tissue benign neoplasm + 29
                      muscle benign neoplasm + 54
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.