Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:musculoskeletal system benign neoplasm
go back to main search page
Accession:DOID:0060099 term browser browse the term
Definition:An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO)


show annotations for term's descendants           Sort by:
Abdominal 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:10686957 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		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 ClinVar Annotator: match by term: FOXO1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr13:21,763,729...21,874,279 JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma OMIM
ClinVar		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G PAX7 paired box 7 ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952 		JBrowse link
G TP73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490 		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 chr17:76,381,000...76,422,189
Ensembl chr17:82,084,873...82,127,492 		JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		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 ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma OMIM
ClinVar		 PMID:25741868 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130 		JBrowse link
G METTL21A methyltransferase 21A, HSPA lysine ISO ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma ClinVar PMID:25741868 NCBI chr2B:94,814,225...94,856,558
Ensembl chr2B:212,969,269...212,983,177 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100970414 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... Ensembl chr 5:356,087...399,923 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 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C 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 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100988671 histone H3.3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106 		JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:26778290 PMID:27476652 PMID:28492532 PMID:31726051 More... NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748 		JBrowse link
desmoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		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 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		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: 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
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218 		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 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239 		JBrowse link
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:32,497,931...32,624,307
Ensembl chr  X:40,202,235...40,249,986 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G MYOD1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26822237 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 Ensembl chr19:1,188,537...1,210,677 JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		JBrowse link
Embryonal Rhabdomyosarcoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC67A1 solute carrier family 67 member 1 ISO OMIM NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958 		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 III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 OMIM
ClinVar		 PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 More... NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940 		JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12973667 PMID:14508707 RGD:1599125 NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047 		JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFHAS1 multifunctional ROCO family signaling regulator 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chr 8:10,318,455...10,428,469 JBrowse link
G MMP21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr10:122,325,909...122,338,047
Ensembl chr10:126,591,824...126,601,001 		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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		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 term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative OMIM
ClinVar		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More... NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		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 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683 		JBrowse link
G CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors OMIM
ClinVar		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454 		JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile ClinVar PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		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: Myofibromatosis, infantile, 1 ClinVar PMID:23731542 NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 OMIM
ClinVar		 PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More... NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		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: Myofibromatosis, infantile, 2 OMIM
ClinVar		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080 		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 chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175 		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 9:21,803,862...21,831,322 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 chr22:9,757,038...9,811,171 JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G DMD dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity ISO Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) RGD PMID:15823121 RGD:2289964 NCBI chr13:9,584,850...9,779,542 JBrowse link
G HMGA1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr 6:33,807,171...33,816,603 JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO Uterine; protein:increased expression:tumor:10/14 tumors (71%) RGD PMID:17367465 RGD:2292170 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473 		JBrowse link
G MED12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296
G XRN2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561 		JBrowse link
Lipoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAG1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:16308870 NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591 		JBrowse link
lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO DNA:multiple chromosomal rearrangements RGD PMID:7606786 RGD:1601567 NCBI chr12:22,954,946...23,096,623 JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Lipoma, somatic ClinVar PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More... NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MFHAS1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: MFHAS1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:10,318,455...10,428,469 JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Malignant fibrous histiocytoma ClinVar PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778 Ensembl chr 8:144,267,101...144,276,985 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: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM
ClinVar		 PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 More... NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047 		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 chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934 		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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211 		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 chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706 		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 NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 More... NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815 		JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 More... NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:7053379 RGD:10755426 NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		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 9:21,803,862...21,831,322 JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr 6:86,017,141...86,044,889 JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750 		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 chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461 		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 chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:8302341 More... NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 More... NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:33372952 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G PTMA prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr2B:118,959,382...118,964,364 JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More... Ensembl chr 5:356,087...399,923 JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More... NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736 		JBrowse link
G SLC67A1 solute carrier family 67 member 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958 		JBrowse link
G TIMM10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr11:52,769,429...52,771,763
Ensembl chr11:56,241,078...56,243,351 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514 		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 Ensembl chr12:32,085,031...32,091,498 JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 Ensembl chr12:32,068,679...32,085,099 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 chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914 		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 chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr2B:124,554,478...124,644,482 JBrowse link
G DAPK1 death associated protein kinase 1 ISO mRNA:decreased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958 		JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212 		JBrowse link
G GSTM5 glutathione S-transferase mu 5 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411 		JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr12:22,954,946...23,096,623 JBrowse link
G IRS1 insulin receptor substrate 1 ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
G NTM neurotrimin treatment ISO RGD PMID:32033718 RGD:596948395 NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876 		JBrowse link
G NUAK1 NUAK family kinase 1 ISO mRNA:decreased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914 		JBrowse link
G TSC2 TSC complex subunit 2 ISO OMIM:150699 MouseDO NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		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 chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585 		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 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:64,737,006...64,750,353 JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		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 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO 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
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    disease of cellular proliferation 7465
      benign neoplasm 2136
        organ system benign neoplasm 1253
          musculoskeletal system benign neoplasm 129
            ameloblastoma + 2
            connective tissue benign neoplasm + 79
            muscle benign neoplasm + 54
Path 2
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      nervous system disease 13589
        peripheral nervous system disease 4313
          neuropathy 4125
            neuromuscular disease 3193
              muscular disease 2205
                muscle tissue disease 1337
                  Muscle Tissue Neoplasms 187
                    musculoskeletal system benign neoplasm 129
                      ameloblastoma + 2
                      connective tissue benign neoplasm + 79
                      muscle benign neoplasm + 54
paths to the root