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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:Soft Tissue Neoplasms
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Accession:DOID:9007429 term browser browse the term
Definition:Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.
Synonyms:exact_synonym: Soft Tissue Neoplasm
 primary_id: MESH:D012983
 xref: EFO:1000541


show annotations for term's descendants           Sort by:
Soft Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: therapeutic CTD PMID:16450387 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:7543699 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 severity ISO mRNA, protein:increased expression:multiple (human) RGD PMID:20165692 RGD:10766477 NCBI chr10:75,353,852...75,371,300
Ensembl chr10:75,353,385...75,373,215 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:16767912 PMID:17203757 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Abdominal Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Aggressive fibromatosis ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642 		JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma		 CTD
ClinVar
OMIM
RGD		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... RGD:1580944 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pax7 paired box 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839 		JBrowse link
G Trp73 transformation related protein 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:57,363,065...57,483,331
Ensembl chr 3:57,363,070...57,483,331 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr11:120,563,878...120,600,273
Ensembl chr11:120,563,799...120,600,273 		JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707 		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 chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		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, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		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 chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788 		JBrowse link
desmoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY		 OMIM
CTD
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 4:89,055,607...89,099,327
Ensembl chr 4:89,055,359...89,099,318 		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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26619011 PMID:26822237 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Setd2 SET domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,361,665...110,447,701 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		JBrowse link
Embryonal Rhabdomyosarcoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a18 solute carrier family 22 (organic cation transporter), member 18 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 7:143,027,502...143,053,071
Ensembl chr 7:143,027,473...143,053,071 		JBrowse link
Embryonal Rhabdomyosarcoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 More... NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Col4a6 collagen, type IV, alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:139,948,399...140,257,091
Ensembl chr  X:139,948,399...140,257,072 		JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12973667 PMID:14508707 RGD:1599125 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		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 chr 8:36,054,922...36,146,603
Ensembl chr 8:36,054,952...36,146,603 		JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 7:133,275,999...133,281,790
Ensembl chr 7:133,275,999...133,281,790 		JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G Notch4 notch 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
hereditary desmoid disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		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 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		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 choroideremia-like ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,509,803...175,520,198
Ensembl chr 1:175,509,803...175,520,467 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883 		JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,708,334...175,738,962
Ensembl chr 1:175,708,147...175,741,055 		JBrowse link
G Fh1 fumarate hydratase 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... RGD:1598939 NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:174,324,079...174,650,295
Ensembl chr 1:174,329,391...174,650,295 		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 chr 1:174,661,352...174,749,386
Ensembl chr 1:174,661,351...174,749,385 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,459,759...175,488,419
Ensembl chr 1:175,447,947...175,489,682 		JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,489,993...175,520,198
Ensembl chr 1:175,489,987...175,520,342 		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 chr 1:175,789,867...176,109,078
Ensembl chr 1:175,789,872...176,102,878 		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 chr 1:174,886,642...175,320,287
Ensembl chr 1:174,886,653...175,320,066 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,526,135...175,643,300
Ensembl chr 1:175,526,159...175,643,300 		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 subfamily K, member 1 treatment ISO RGD PMID:15048723 RGD:9685182 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:143,516,435...143,525,675
Ensembl chr 1:143,516,402...143,530,352 		JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G Kdr kinase insert domain protein receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
infantile myofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide IAGP
ISO		 OMIM:228550 | OMIM:615293
ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD		 PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
Infantile Myofibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 ClinVar PMID:23731542 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 OMIM
ClinVar		 PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More... NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
Infantile Myofibromatosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 OMIM
ClinVar		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:11102981 PMID:11755616 More... NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		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:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Bak1 BCL2-antagonist/killer 1 ISO associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr17:27,238,786...27,247,601
Ensembl chr17:27,238,784...27,247,983 		JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:23789224 RGD:10054112 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO protein:increased expression:myometrium RGD PMID:16962107 PMID:23789224 RGD:1643479, RGD:10054112 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Bcl2l1 BCL2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Cav1 caveolin 1, caveolae protein ISO protein:increased expression:uterus RGD PMID:17952758 RGD:2296031 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
G Ccng1 cyclin G1 ISO mRNA, protein:increased expression:uterus, myometrium RGD PMID:12634633 RGD:2316023 NCBI chr11:40,639,379...40,646,044
Ensembl chr11:40,639,379...40,646,138 		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 chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Csnk2b casein kinase 2, beta polypeptide ISO RGD PMID:25327614 RGD:11565842 NCBI chr17:35,335,171...35,341,029
Ensembl chr17:35,335,172...35,341,029 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18701604 PMID:31468104 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22504913 RGD:9588321 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fasl Fas ligand ISO protein:increased expression:myometrium RGD PMID:18000229 RGD:2292498 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Fgf1 fibroblast growth factor 1 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr18:38,971,725...39,062,532
Ensembl chr18:38,971,726...39,062,525 		JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO RGD PMID:18566572 RGD:2301090 NCBI chr 2:125,876,578...125,933,105
Ensembl chr 2:125,876,578...125,933,105 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO mRNA, protein:increased expression:myometrium RGD PMID:12909487 RGD:2298700 NCBI chr11:102,495,257...102,498,884
Ensembl chr11:102,495,222...102,498,884 		JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chr 5:139,408,905...139,413,555
Ensembl chr 5:139,408,906...139,413,555 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO uterine leiomyoma, OMIM:150699 RGD PMID:8954805 RGD:1601568 NCBI chr10:120,197,173...120,312,374
Ensembl chr10:120,197,180...120,312,374 		JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:18566572 RGD:2301090 NCBI chr17:33,865,207...33,904,432
Ensembl chr17:33,865,207...33,905,834 		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 chr15:102,052,621...102,057,947
Ensembl chr15:102,052,797...102,057,946 		JBrowse link
G Inhba inhibin beta-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206 		JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO DNA:translocation:intron:IVS3 (human) RGD PMID:15313893 RGD:9590338 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546 		JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:myometrium (human) RGD PMID:20396563 RGD:12859089 NCBI chr 2:49,509,298...49,664,790
Ensembl chr 2:49,509,310...49,664,790 		JBrowse link
G Lnpep leucyl/cystinyl aminopeptidase disease_progression ISO associated with Uterine Neoplasms;protein:increased expression:serum RGD PMID:7446622 RGD:2314924 NCBI chr17:17,747,985...17,846,303
Ensembl chr17:17,741,672...17,845,312 		JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO RGD PMID:22302692 RGD:6483544 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:myometrium RGD PMID:17943549 RGD:2290362 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Myc myelocytomatosis oncogene treatment ISO RGD PMID:22302692 RGD:6483544 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:smooth muscle cell RGD PMID:10671823 RGD:2292088 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 treatment ISO RGD PMID:21896544 RGD:10413890 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819 		JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO protein:increased expression:myometrium RGD PMID:18000229 PMID:21896544 RGD:2292498, RGD:10413890 NCBI chr 2:132,091,206...132,095,100
Ensembl chr 2:132,091,082...132,095,234 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO mRNA,protein:increased expression:uterine myometrium: RGD PMID:14561813 RGD:9850247 NCBI chr16:96,268,806...96,326,993
Ensembl chr16:96,268,806...96,326,993 		JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pgr progesterone receptor no_association ISO RGD PMID:15807882 RGD:1601278 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		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 chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:17407572 RGD:10043352 NCBI chr 3:157,272,459...157,350,392
Ensembl chr 3:157,272,529...157,351,525 		JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO RGD PMID:12517589 RGD:2292569 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129 		JBrowse link
G Sfrp1 secreted frizzled-related protein 1 ISO Uterine leiomyoma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15972578 PMID:15972578 RGD:2298808 NCBI chr 8:23,901,401...23,939,648
Ensembl chr 8:23,901,518...23,939,648 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO RGD PMID:17505012 RGD:2302021 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15937110 PMID:21145542 RGD:11568684 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Wnt5b wingless-type MMTV integration site family, member 5B ISO Uterine leiomyoma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15972578 PMID:15972578 RGD:2298808 NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308 		JBrowse link
G Wnt7a wingless-type MMTV integration site family, member 7A ISO RGD PMID:11232041 RGD:2298847 NCBI chr 6:91,340,963...91,388,335
Ensembl chr 6:91,340,963...91,388,345 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:15760950 RGD:2302578 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Multiple cutaneous leiomyomas ClinVar PMID:11865300 PMID:12761039 PMID:12772087 PMID:16237213 PMID:16575891 More... NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		JBrowse link
leiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd44 CD44 antigen ISO RGD PMID:15762960 RGD:2296043 NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010 		JBrowse link
leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone type 2 receptor ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr15:102,353,437...102,363,075
Ensembl chr15:102,353,802...102,363,068 		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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		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 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 severity ISO Uterine RGD PMID:15823121 RGD:2289964 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr17:27,774,798...27,782,649
Ensembl chr17:27,775,471...27,782,648 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine RGD PMID:17367465 RGD:2292170 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 2:146,854,672...146,919,922
Ensembl chr 2:146,854,916...146,919,920 		JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Recql4 RecQ protein-like 4 ISO ClinVar Annotator: match by term: Malignant fibrous histiocytoma ClinVar PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778 NCBI chr15:76,587,753...76,594,820
Ensembl chr15:76,587,753...76,594,748 		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 chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822 		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 polypeptide ISO ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM
ClinVar		 PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 More... NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		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, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715 		JBrowse link
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Rhabdomyoma ClinVar PMID:10205261 PMID:17304050 PMID:25741868 PMID:28492532 PMID:32211034 More... NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:22184391 NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622 		JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:20104584 PMID:21232165 PMID:22923021 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781 		JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8589730 PMID:10188893 PMID:10790213 PMID:11802209 PMID:11920621 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:7053379 RGD:10755426 NCBI chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle RGD PMID:21565688 RGD:8552662 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19809159 PMID:24124571 NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		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 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		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 More... NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More... NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Pms2 PMS1 homolog2, 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 More... NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
G Ptch1 patched 1 ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma		 CTD
ClinVar
RGD		 PMID:19155313 PMID:33372952 PMID:19321799 RGD:150523834 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		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 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 1:86,454,442...86,458,434
Ensembl chr 1:86,454,448...86,458,434 		JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More... NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
G Slc22a18 solute carrier family 22 (organic cation transporter), member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 PMID:25741868 NCBI chr 7:143,027,502...143,053,071
Ensembl chr 7:143,027,473...143,053,071 		JBrowse link
G Timm10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 2:84,657,365...84,660,557
Ensembl chr 2:84,657,341...84,660,557 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
skeletal muscle cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir222 microRNA 222 ISO RNA:increased expression: triceps surae muscle RGD PMID:23447020 RGD:151893488 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210 		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 gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
Solitary Fibrous Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nab2 Ngfi-A binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr10:127,496,787...127,502,572
Ensembl chr10:127,496,787...127,504,437 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		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 6b severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr15:80,595,514...80,825,287
Ensembl chr15:80,595,514...80,825,286 		JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase susceptibility ISO DNA:polymorphisms: : RGD PMID:26918693 RGD:152995264 NCBI chr 2:163,565,703...163,592,154
Ensembl chr 2:163,568,504...163,592,159 		JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:140,433,297...140,437,306
Ensembl chr 7:140,433,307...140,437,490 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Col6a3 collagen, type VI, alpha 3 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 1:90,694,582...90,771,710
Ensembl chr 1:90,693,645...90,771,693 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122 		JBrowse link
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr10:120,197,173...120,312,374
Ensembl chr10:120,197,180...120,312,374 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 1:82,210,826...82,269,160
Ensembl chr 1:82,210,822...82,269,137 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Nuak1 NUAK family, SNF1-like kinase, 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr10:84,206,764...84,282,028
Ensembl chr10:84,206,769...84,276,461 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Tnrc6b trinucleotide repeat containing 6b severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr15:80,595,514...80,825,287
Ensembl chr15:80,595,514...80,825,286 		JBrowse link
G Tsc2 TSC complex subunit 2 IAGP OMIM:150699 MouseDO NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		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 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
Vascular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll4 delta like canonical Notch ligand 4 ISO RGD PMID:20147986 RGD:155641259 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF		 CTD
ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Slc18a1 solute carrier family 18 (vesicular monoamine), member 1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:69,490,360...69,547,951
Ensembl chr 8:69,490,363...69,541,887 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
IAGP		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of cellular proliferation 7494
      Neoplasms by Histologic Type 5225
        Connective and Soft Tissue Neoplasms 1871
          Soft Tissue Neoplasms 178
            Hapnes Boman Skeie Syndrome 0
            Intimal Sarcoma 0
            Muscle Tissue Neoplasms + 177
            Vascular Neoplasms 1
paths to the root