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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
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: 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 histone family member 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
JBrowse link
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 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 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: 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 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:12658451, PMID:17667967, PMID:17804857, PMID:19351833, PMID:21173220, 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 histone family member 3B 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
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 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 chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fibroma ClinVar PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 malignant fibrous histiocytoma amplified sequence 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:8844222, PMID:8940264, PMID:8990002, PMID:9342373, PMID:9664575, 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:15459959, PMID:15857185, PMID:15951963, PMID:16088911, PMID:16134147, PMID:16292097, PMID:16317745, PMID:16461775, PMID:17411426, PMID:17489848, 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: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:27150160, PMID:27153395, PMID:27600092, PMID:27878467, PMID:27978560, PMID:28135145, PMID:28492532, PMID:28608266, PMID:28873162, PMID:29641532, PMID:29684080, PMID:29915797, PMID:29945567, PMID:30374176, PMID:30613976, 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: Leiomyoma, multiple cutaneous
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
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: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:27037871, PMID:28289076, PMID:28492532, PMID:29423582, PMID:29909963, PMID:30013182, PMID:30967997, PMID:31444830, 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: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 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:7678051, PMID:9211853, PMID:11341328, PMID:15054839, 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 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 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: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: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 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: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:23635950, PMID:25741868, PMID:26295337, PMID:26467025 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:15800615, PMID:25741868 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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 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 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 Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:19293170 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 CTD PMID:19155313 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 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:7706467, PMID:9067756, PMID:9285560, PMID:9470817, PMID:10432928, PMID:10519384, PMID:11782540, PMID:12826609, PMID:15580553, PMID:16818505, PMID:17318340, PMID:17606709, PMID:19367569, PMID:20128691, PMID:20407015, PMID:21232794, PMID:21343334, PMID:21483000, PMID:21519010, PMID:22186996, PMID:22915647, PMID:23246812, PMID:24549055, PMID:24728327, PMID:25637381, PMID:25741868, PMID:25896519, PMID:25952993, PMID:26086041, PMID:26206375, PMID:26230955, PMID:26585234, PMID:27276561, PMID:27463065, PMID:27680515, PMID:27895058, PMID:27959731, PMID:28492532, PMID:28861920, PMID:30224644, PMID:30327374 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 OMIM 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 Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:18058223, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30851065 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868, PMID:28492532, PMID:30311386 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 16058
    disease of cellular proliferation 5918
      Neoplasms by Histologic Type 3729
        Connective and Soft Tissue Neoplasms 1510
          Muscle Tissue Neoplasms 134
            alveolar soft part sarcoma 1
            granular cell tumor + 1
            inflammatory myofibroblastic tumor + 1
            leiomyoma + 66
            muscle benign neoplasm + 49
            muscle cancer + 47
            musculoskeletal system benign neoplasm + 75
            skeletal muscle neoplasm + 33
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  Muscle Tissue Neoplasms 134
                    alveolar soft part sarcoma 1
                    granular cell tumor + 1
                    inflammatory myofibroblastic tumor + 1
                    leiomyoma + 66
                    muscle benign neoplasm + 49
                    muscle cancer + 47
                    musculoskeletal system benign neoplasm + 75
                    skeletal muscle neoplasm + 33
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.