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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.


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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 chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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 chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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 chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chrNW_004955431:5,797,359...5,890,758 JBrowse link
G Pax3 paired box 3 ISO OMIM NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
JBrowse link
G Pax7 paired box 7 ISO OMIM NCBI chrNW_004955527:474,450...573,869
Ensembl chrNW_004955527:474,403...574,689
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004955448:745,419...868,313
Ensembl chrNW_004955448:745,419...868,602
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 chrNW_004955506:1,152,790...1,193,826
Ensembl chrNW_004955506:1,152,790...1,193,826
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 chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
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 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004955489:269,900...278,398
Ensembl chrNW_004955489:269,900...278,398
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 chrNW_004955504:36,939...66,507 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 chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
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 chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3 histone, family 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004955506:6,475,336...6,478,781
Ensembl chrNW_004955506:6,474,727...6,482,244
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 chrNW_004955472:12,391,399...12,439,221 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 chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chrNW_004955416:7,105,302...7,159,121 JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408
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 chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
JBrowse link
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fibroma ClinVar PMID:30311386 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
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 chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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 chrNW_004955463:4,900,115...4,993,793
Ensembl chrNW_004955463:4,900,060...4,993,793
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chrNW_004955477:3,650,874...3,658,059
Ensembl chrNW_004955477:3,650,874...3,658,059
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 chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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 chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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 chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
JBrowse link
G Cdc73 cell division cycle 73 ISO OMIM NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
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 chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
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 chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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 chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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 chrNW_004955495:8,012,370...8,048,616
Ensembl chrNW_004955495:8,012,502...8,047,710
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 chrNW_004955458:693,434...703,026
Ensembl chrNW_004955458:694,055...702,778
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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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 chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chrNW_004955437:2,478,414...2,486,809
Ensembl chrNW_004955437:2,478,414...2,486,809
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 chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chrNW_004955454:6,171,575...6,200,879 JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chrNW_004955415:29,107,060...29,175,374
Ensembl chrNW_004955415:29,107,034...29,175,538
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 chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
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 chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
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 chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
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 chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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 chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
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 chrNW_004955451:16,819,463...16,870,780 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 chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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 chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chrNW_004955411:15,052,151...15,077,320
Ensembl chrNW_004955411:15,052,163...15,077,320
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 chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19809159, PMID:24124571 NCBI chrNW_004955408:29,370,480...29,383,531
Ensembl chrNW_004955408:29,370,468...29,383,971
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 chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
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 chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
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 chrNW_004955441:14,188,315...14,247,608
Ensembl chrNW_004955441:14,187,805...14,247,698
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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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 chrNW_004955460:13,762,854...13,791,462 JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD
ClinVar
PMID:19155313 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
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 chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chrNW_004955453:4,036,503...4,037,788 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 chrNW_004955504:36,939...66,507 JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:25741868 NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
G Slc22a18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
JBrowse link
G Timm10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chrNW_004955511:2,498,498...2,500,828
Ensembl chrNW_004955511:2,497,307...2,500,786
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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chrNW_004955437:9,527,445...9,541,908 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 chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
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 chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797
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 chrNW_004955461:7,787,068...7,836,380
Ensembl chrNW_004955461:7,786,850...7,836,922
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 chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546
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 chrNW_004955476:11,833,595...11,836,411
Ensembl chrNW_004955476:11,833,595...11,836,411
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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004955406:10,535,801...10,558,649
Ensembl chrNW_004955406:10,535,323...10,561,627
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chrNW_004955458:12,493,790...12,624,805 JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004955413:25,820,428...26,060,681
Ensembl chrNW_004955413:25,886,077...26,048,546
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 chrNW_004955422:29,254,440...29,307,104
Ensembl chrNW_004955422:29,254,216...29,308,174
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      musculoskeletal system disease 4950
        musculoskeletal system benign neoplasm 78
          connective tissue benign neoplasm + 28
          muscle benign neoplasm + 54
Path 2
Term Annotations click to browse term
  disease 11834
    disease of anatomical entity 11389
      nervous system disease 9331
        peripheral nervous system disease 2289
          neuropathy 2142
            neuromuscular disease 1660
              muscular disease 1123
                muscle tissue disease 759
                  Muscle Tissue Neoplasms 137
                    musculoskeletal system benign neoplasm 78
                      connective tissue benign neoplasm + 28
                      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.