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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:Muscle Tissue Neoplasms
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Accession:DOID:9003582 term browser browse the term
Definition:Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles.
Synonyms:exact_synonym: Myofibroblastoma;   muscle neoplasm;   muscle neoplasms;   muscle tissue neoplasm;   myofibroblastomas
 primary_id: MESH:D009379;   MESH:D019042
 alt_id: RDO:0005972;   RDO:0007249
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chr 2:141,451,234...141,527,016
Ensembl chr 2:141,451,234...141,527,016
JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar
OMIM
PMID:24033266 PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
OMIM
ClinVar
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:158,211,001...158,313,510
Ensembl chr 5:158,214,616...158,313,426
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 2:147,577,149...147,693,033
Ensembl chr 2:147,577,089...147,693,082
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 chr10:109,851,407...109,889,339
Ensembl chr10:109,851,854...109,888,623
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 chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
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: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 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 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad 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:28873162 PMID:29386252 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:104,573,666...104,575,890
Ensembl chr10:104,573,664...104,575,890
JBrowse link
desmoid tumor 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: Desmoid tumor ClinVar PMID:8162051 PMID:15311282 PMID:17293347 PMID:20223039 PMID:20513532 PMID:20685668 PMID:21643010 PMID:21779980 PMID:22987206 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 NCBI chr 5:107,711,077...107,777,530
Ensembl chr 5:107,711,077...107,777,530
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 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISS OMIM:268210 MouseDO NCBI chr 1:216,676,330...216,700,632
Ensembl chr 1:216,677,373...216,700,641
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
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 PMID:12973667 PMID:14508707, PMID:14508707 RGD:1599125 NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit IMP RGD PMID:18456653 RGD:9586716 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
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
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chr16:60,120,457...60,208,550
Ensembl chr16:60,128,201...60,208,462
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 1:205,745,119...205,750,786
Ensembl chr 1:205,745,119...205,750,786
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 ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar Annotator: match by OMIM:135290
OMIM
ClinVar
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:8162022 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8730280 PMID:8844222 PMID:8940264 PMID:8990002 PMID:9342373 PMID:9536098 PMID:9664575 PMID:9824584 PMID:9950360 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12901799 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16292097 PMID:16317745 PMID:16461775 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17576681 PMID:17785554 PMID:17963004 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20301519 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21859464 PMID:21901162 PMID:22135120 PMID:22431159 PMID:22703879 PMID:23159591 PMID:23970361 PMID:24033266 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25186627 PMID:25203624 PMID:25479140 PMID:25525159 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25992589 PMID:26138249 PMID:26300997 PMID:26320869 PMID:26446593 PMID:26467025 PMID:26493165 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26845104 PMID:26976419 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27600092 PMID:27878467 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28590052 PMID:28608266 PMID:28873162 PMID:29122597 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:30267214 PMID:30374176 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31428572 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,740,759...93,742,624 JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,936,989...93,962,749
Ensembl chr13:93,939,022...93,960,342
JBrowse link
G Fh fumarate hydratase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
ClinVar
CTD
OMIM
PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15663510 PMID:15761418 PMID:15937070 PMID:16029320 PMID:16199547 PMID:16288654 PMID:16403393 PMID:16575891 PMID:16597677 PMID:16757530 PMID:16881969 PMID:17270241 PMID:17392716 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18414213 PMID:19939761 PMID:19967458 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21340633 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21520333 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22127509 PMID:22243733 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23211287 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25741868 PMID:25750977 PMID:25852058 PMID:25923021 PMID:26023681 PMID:26173633 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:28289076 PMID:28300276 PMID:28492532 PMID:28873162 PMID:29423582 PMID:29909963 PMID:30013182 PMID:30548481 PMID:30761759 PMID:30967997 PMID:31444830 PMID:31831373, PMID:15937070 RGD:1598939 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:92,569,256...92,887,302 JBrowse link
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:92,894,431...92,988,137
Ensembl chr13:92,894,431...92,988,137
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,684,324...93,715,378
Ensembl chr13:93,684,437...93,716,227
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,716,481...93,746,994
Ensembl chr13:93,716,481...93,746,994
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
JBrowse link
G Rgs7 regulator of G-protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,095,659...93,534,452
Ensembl chr13:93,095,200...93,307,199
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:93,751,754...93,874,149
Ensembl chr13:93,751,759...93,874,105
JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:65,497,359...65,503,912
Ensembl chr17:65,497,359...65,503,912
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 IDA RGD PMID:15048723 RGD:9685182 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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 chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar
OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Infantile myofibromatosis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12181311 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:31017643 PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Infantile myofibromatosis 1
ClinVar Annotator: match by OMIM:228550
OMIM
ClinVar
PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25158255 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:31474318 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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 ClinVar Annotator: match by term: Infantile myofibromatosis 2 OMIM
ClinVar
PMID:23731542 PMID:25741868 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
inflammatory myofibroblastic tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ranbp2 RAN binding protein 2 ISO DNA:translocations:intron: (human) RGD PMID:12661011 RGD:9999211 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link
leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO RGD PMID:15704521 RGD:1578690 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:23789224 RGD:10054112 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment ISO
IEP
protein:increased expression:myometrium RGD PMID:16962107, PMID:23789224 RGD:1643479, RGD:10054112 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Cav1 caveolin 1 ISO protein:increased expression:uterus RGD PMID:17952758 RGD:2296031 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Ccng1 cyclin G1 ISO mRNA, protein:increased expression:uterus, myometrium RGD PMID:12634633 RGD:2316023 NCBI chr10:25,903,925...25,910,298
Ensembl chr10:25,903,911...25,910,325
JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M
protein:increased expression:myometrium
RGD PMID:16443508, PMID:16730007 RGD:2289780, RGD:2289717 NCBI chr11:86,715,981...86,735,630
Ensembl chr11:86,715,981...86,735,622
JBrowse link
G Csnk2b casein kinase 2 beta ISO RGD PMID:25327614 RGD:11565842 NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18701604 PMID:31468104 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit IEP RGD PMID:22504913 RGD:9588321 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Faslg Fas ligand ISO protein:increased expression:myometrium RGD PMID:18000229 RGD:2292498 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fgf1 fibroblast growth factor 1 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO RGD PMID:18566572 RGD:2301090 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fzd2 frizzled class receptor 2 ISO mRNA, protein:increased expression:myometrium RGD PMID:12909487 RGD:2298700 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr12:17,309,122...17,315,267
Ensembl chr12:17,309,834...17,311,112
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO uterine leiomyoma, OMIM:150699 RGD PMID:8954805 RGD:1601568 NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:18566572 RGD:2301090 NCBI chr 7:18,516,253...18,554,536
Ensembl chr 7:18,516,512...18,554,227
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray (human) RGD PMID:15705628 RGD:2301708 NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Inhba inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr17:51,894,869...51,919,998
Ensembl chr17:51,898,217...51,912,496
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:translocation:intron:IVS3 (human) RGD PMID:15313893 RGD:9590338 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:myometrium (human) RGD PMID:20396563 RGD:12859089 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase disease_progression ISO associated with Uterine Neoplasms;protein:increased expression:serum RGD PMID:7446622 RGD:2314924 NCBI chr 1:59,289,392...59,384,540
Ensembl chr 1:59,297,294...59,347,472
Ensembl chr 1:59,297,294...59,347,472
JBrowse link
G Mki67 marker of proliferation Ki-67 IDA RGD PMID:22302692 RGD:6483544 NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:myometrium RGD PMID:17943549 RGD:2290362 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment IDA RGD PMID:22302692 RGD:6483544 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:smooth muscle cell RGD PMID:10671823 RGD:2292088 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 treatment IEP RGD PMID:21896544 RGD:10413890 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO
IEP
protein:increased expression:myometrium RGD PMID:18000229, PMID:21896544 RGD:2292498, RGD:10413890 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO mRNA,protein:increased expression:uterine myometrium: RGD PMID:14561813 RGD:9850247 NCBI chr11:36,851,035...36,912,272
Ensembl chr11:36,851,038...36,912,229
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pgr progesterone receptor no_association ISO RGD PMID:15807882 RGD:1601278 NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased phosphorylation:myometrium
protein:decreased expression:myometrium
RGD PMID:17097286, PMID:18000229 RGD:2292508, RGD:2292498 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:17407572 RGD:10043352 NCBI chr 2:263,895,093...263,979,682
Ensembl chr 2:263,895,241...263,979,698
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:12517589 RGD:2292569 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO Uterine leiomyoma
CTD Direct Evidence: marker/mechanism
CTD PMID:15972578, PMID:15972578 RGD:2298808 NCBI chr16:73,372,007...73,410,777
Ensembl chr16:73,372,007...73,410,777
JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 IMP RGD PMID:17505012 RGD:2302021 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15937110, PMID:21145542 RGD:11568684 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Wnt5b Wnt family member 5B ISO Uterine leiomyoma
CTD Direct Evidence: marker/mechanism
CTD PMID:15972578, PMID:15972578 RGD:2298808 NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894
JBrowse link
G Wnt7a Wnt family member 7A ISO RGD PMID:11232041 RGD:2298847 NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:15760950 RGD:2302578 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Cutaneous leiomyoma
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas
ClinVar PMID:11865300 PMID:12761039 PMID:16575891 PMID:21929734 PMID:22069215 PMID:22595425 PMID:22703879 PMID:24728327 PMID:25741868 PMID:27037871 PMID:28492532 PMID:28873162 PMID:29909963 PMID:30967997 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
leiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd44 CD44 molecule (Indian blood group) ISO RGD PMID:15762960 RGD:2296043 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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 chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Myometrial Neoplasms;protein:increased expression:myometrium RGD PMID:18156978 RGD:2296049 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: 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:15087378 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 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:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO Uterine RGD PMID:15823121 RGD:2289964 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr20:7,132,501...7,140,155
Ensembl chr20:7,136,007...7,138,980
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine RGD PMID:17367465 RGD:2292170 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 3:141,224,858...141,298,272
Ensembl chr 3:141,225,290...141,298,265
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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
Malignant Granular Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
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 ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal ClinVar
OMIM
PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 PMID:15928335 PMID:16954519 PMID:17087936 PMID:17087943 PMID:17566086 PMID:22745105 PMID:25157968 PMID:25741868 PMID:28492532 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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
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 chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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 chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:20104584 PMID:22923021 PMID:23635950 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26306726 PMID:26467025 PMID:28492532 PMID:28740454 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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 PMID:32295079 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IDA DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle RGD PMID:21565688 RGD:8552662 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr 5:49,307,584...49,333,064
Ensembl chr 5:49,311,030...49,333,056
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 PMID:28492532 PMID:28624956 PMID:28862265 PMID:30266945 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19809159 PMID:24124571 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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 chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:21520333 PMID:26467025 PMID:28153049 PMID:28492532 PMID:29750335 PMID:30128536 PMID:31100584 PMID:31965077 NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:7655472 PMID:8069310 PMID:9536098 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:16199547 PMID:16944272 PMID:16961930 PMID:17426081 PMID:17576681 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:24789688 PMID:24932921 PMID:25324867 PMID:25325900 PMID:25741868 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26740943 PMID:26908603 PMID:26969325 PMID:26973730 PMID:27074763 PMID:27171602 PMID:27322474 PMID:27482814 PMID:27862945 PMID:28422438 PMID:28492532 PMID:31533797 PMID:32860008 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD
ClinVar
PMID:19155313 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
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:22974104 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 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chr 1:216,676,330...216,700,632
Ensembl chr 1:216,677,373...216,700,641
JBrowse link
G Timm10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 3:72,226,563...72,230,087
Ensembl chr 3:72,226,613...72,230,084
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:28873162 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30224644 PMID:30262806 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31016814 PMID:31775759 PMID:32000721 PMID:32295079 PMID:33300245 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr 1:216,676,330...216,700,632
Ensembl chr 1:216,677,373...216,700,641
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 ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 OMIM
ClinVar
PMID:19556464 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28873162 PMID:30097050 PMID:30446821 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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 chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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 chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
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 chr 1:213,602,836...213,606,507
Ensembl chr 1:213,602,850...213,605,643
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:65,159,944...65,275,408
Ensembl chr 7:65,159,944...65,275,408
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:121,930,610...122,147,934
Ensembl chr 7:121,930,615...122,147,934
JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of cellular proliferation 6946
      Neoplasms by Histologic Type 4765
        Connective and Soft Tissue Neoplasms 1719
          Muscle Tissue Neoplasms 139
            alveolar soft part sarcoma 1
            granular cell tumor + 1
            inflammatory myofibroblastic tumor + 1
            leiomyoma + 65
            muscle benign neoplasm + 55
            muscle cancer + 53
            musculoskeletal system benign neoplasm + 81
            skeletal muscle neoplasm + 41
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        peripheral nervous system disease 2527
          neuropathy 2325
            neuromuscular disease 1832
              muscular disease 1231
                muscle tissue disease 823
                  Muscle Tissue Neoplasms 139
                    alveolar soft part sarcoma 1
                    granular cell tumor + 1
                    inflammatory myofibroblastic tumor + 1
                    leiomyoma + 65
                    muscle benign neoplasm + 55
                    muscle cancer + 53
                    musculoskeletal system benign neoplasm + 81
                    skeletal muscle neoplasm + 41
paths to the root