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:Soft Tissue Neoplasms
go back to main search page
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

GViewer not supported for the selected species.

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 BCL2 apoptosis regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16450387 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:7543699 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide severity ISO mRNA, protein:increased expression:multiple (human) RGD PMID:20165692 RGD:10766477 NCBI chrNW_004624747:9,973,949...9,987,520
Ensembl chrNW_004624747:9,962,467...9,987,511 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:16767912 PMID:17203757 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		JBrowse link
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 chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		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 chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chrNW_004624753:6,022,033...6,024,866
Ensembl chrNW_004624753:6,023,069...6,024,833 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chrNW_004624740:16,128,145...16,136,696
Ensembl chrNW_004624740:16,128,059...16,137,337 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531 		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 chrNW_004624748:1,413,754...1,529,646
Ensembl chrNW_004624748:1,413,983...1,529,992 		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 chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944 		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 chrNW_004624764:3,853,055...3,951,182
Ensembl chrNW_004624764:3,853,055...3,947,521 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004624730:26,813,716...26,967,615
Ensembl chrNW_004624730:26,813,624...26,967,691 		JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chrNW_004624801:10,813,518...10,850,968
Ensembl chrNW_004624801:10,813,623...10,850,883 		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 chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921 		JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chrNW_004624765:8,374,160...8,436,969 JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101699418 histone H3.3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004624807:194,372...203,205 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 chrNW_004624771:15,639,018...15,896,590
Ensembl chrNW_004624771:15,648,638...15,896,590 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chrNW_004624742:11,882,815...11,885,686
Ensembl chrNW_004624742:11,882,907...11,885,667 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chrNW_004624770:8,592,473...8,642,063
Ensembl chrNW_004624770:8,592,457...8,641,843 		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... NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447 		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 chrNW_004624764:2,655,138...2,679,138
Ensembl chrNW_004624764:2,650,604...2,679,005 		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 chrNW_004624794:55,907...97,991
Ensembl chrNW_004624794:54,143...98,292 		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 chrNW_004624731:5,350,912...5,359,286 JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101698172 histone H3.3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004624801:5,668,661...5,672,164 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:27476652 NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750 		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 chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610 		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 chrNW_004624784:12,659,627...12,685,474
Ensembl chrNW_004624784:12,660,572...12,682,553 		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 chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		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 chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		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 chrNW_004624736:25,778,191...25,826,945
Ensembl chrNW_004624736:25,778,240...25,826,530 		JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004624762:15,338,331...15,465,683
Ensembl chrNW_004624762:15,420,596...15,465,873 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chrNW_004624804:7,477,046...7,533,322
Ensembl chrNW_004624804:7,492,799...7,533,408 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chrNW_004624766:9,345,390...9,347,985
Ensembl chrNW_004624766:9,345,613...9,347,326 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26822237 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200 		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 NCBI chrNW_004624828:7,444,339...7,466,926
Ensembl chrNW_004624828:7,445,069...7,467,298 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004624878:621,214...776,363 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 member 18 ISO OMIM NCBI chrNW_004624767:15,653,083...15,677,691
Ensembl chrNW_004624767:15,653,047...15,677,640 		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 chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chrNW_004624803:7,509,877...7,916,365
Ensembl chrNW_004624803:7,511,041...7,916,031 		JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chrNW_004624803:7,917,668...8,335,274 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 RGD
CTD		 PMID:12973667 PMID:14508707 RGD:1599125 NCBI chrNW_004624757:10,972,976...11,123,103
Ensembl chrNW_004624757:10,972,692...11,125,898 		JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chrNW_004624734:213,536...280,816
Ensembl chrNW_004624734:213,895...279,777 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chrNW_004624753:7,994,419...8,498,243
Ensembl chrNW_004624753:7,994,321...8,436,120 		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 chrNW_004624839:4,908,861...5,000,218
Ensembl chrNW_004624839:4,908,639...5,000,677 		JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chrNW_004624737:21,395,963...21,402,925
Ensembl chrNW_004624737:21,385,497...21,402,897 		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 chrNW_004624732:35,473,740...35,477,482
Ensembl chrNW_004624732:35,472,760...35,477,528 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284 		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 chrNW_004624744:11,462,865...11,466,559
Ensembl chrNW_004624744:11,462,847...11,467,870 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004624734:39,414,458...39,471,705
Ensembl chrNW_004624734:39,411,824...39,471,705 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347 		JBrowse link
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chrNW_004624754:24,108,661...24,128,053 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 OMIM
ClinVar		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More... NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		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 chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml CHM like Rab escort protein ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624771:11,981,078...11,987,379 JBrowse link
G Chrm3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624775:10,948,075...11,427,898
Ensembl chrNW_004624775:10,949,983...10,951,755 		JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624771:12,215,957...12,230,908 JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous OMIM
ClinVar		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624771:10,641,845...10,956,213
Ensembl chrNW_004624771:10,642,515...10,953,480 		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 chrNW_004624771:10,965,170...11,072,462
Ensembl chrNW_004624771:10,967,542...10,968,048 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624771:11,900,020...11,942,943
Ensembl chrNW_004624771:11,899,624...11,942,806 		JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624771:11,943,894...11,991,477
Ensembl chrNW_004624771:11,943,914...11,991,411 		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 chrNW_004624771:16,745,575...17,109,614
Ensembl chrNW_004624771:16,745,555...17,102,752 		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 chrNW_004624771:11,205,772...11,724,980
Ensembl chrNW_004624771:11,206,421...11,723,749 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624775:12,954,653...13,650,449
Ensembl chrNW_004624775:12,956,042...13,419,381 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624771:11,997,750...12,149,360
Ensembl chrNW_004624771:11,997,669...12,149,454 		JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004624775:12,903,145...12,910,048
Ensembl chrNW_004624775:12,902,697...12,910,149 		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 chrNW_004624814:375,039...382,732
Ensembl chrNW_004624814:375,040...381,702 		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 chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391 		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 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chrNW_004624762:4,051,479...4,377,237
Ensembl chrNW_004624762:4,128,127...4,377,278 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745 		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 chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980 		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 chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674 		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 chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004624892:2,110,310...2,148,023
Ensembl chrNW_004624892:2,117,561...2,148,037 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
infantile myofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		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 chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		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 chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		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 chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881 		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 chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433 		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 chrNW_004624891:3,135,824...3,330,487
Ensembl chrNW_004624891:3,138,848...3,329,459 		JBrowse link
G Bak1 BCL2 antagonist/killer 1 ISO associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chrNW_004624754:23,297,077...23,302,366
Ensembl chrNW_004624754:23,296,800...23,301,223 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:23789224 RGD:10054112 NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506 		JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO protein:increased expression:myometrium RGD PMID:16962107 PMID:23789224 RGD:10054112 RGD:1643479 NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344 		JBrowse link
G Bcl2l1 BCL2 like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:myometrium RGD PMID:16962107 RGD:1643479 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		JBrowse link
G Cav1 caveolin 1 ISO protein:increased expression:uterus RGD PMID:17952758 RGD:2296031 NCBI chrNW_004624827:2,844,855...2,878,367
Ensembl chrNW_004624827:2,844,115...2,879,179 		JBrowse link
G Ccng1 cyclin G1 ISO mRNA, protein:increased expression:uterus, myometrium RGD PMID:12634633 RGD:2316023 NCBI chrNW_004624733:26,366,448...26,378,062
Ensembl chrNW_004624733:26,367,200...26,376,664 		JBrowse link
G Comt catechol-O-methyltransferase susceptibility ISO protein:increased expression:myometrium
associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M		 RGD PMID:16443508 PMID:16730007 RGD:2289717 RGD:2289780 NCBI chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333 		JBrowse link
G Csnk2b casein kinase 2 beta ISO RGD PMID:25327614 RGD:11565842 NCBI chrNW_004624754:24,533,134...24,538,233 JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18701604 PMID:31468104 NCBI chrNW_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO RGD PMID:22504913 RGD:9588321 NCBI chrNW_004624800:6,781,848...6,874,221
Ensembl chrNW_004624800:6,802,901...6,874,196 		JBrowse link
G Faslg Fas ligand ISO protein:increased expression:myometrium RGD PMID:18000229 RGD:2292498 NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825 		JBrowse link
G Fgf1 fibroblast growth factor 1 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chrNW_004624774:1,779,168...1,867,321
Ensembl chrNW_004624774:1,779,170...1,867,300 		JBrowse link
G Fgf2 fibroblast growth factor 2 disease_progression ISO protein:increased expression:uterus RGD PMID:16139411 RGD:2290287 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO RGD PMID:18566572 RGD:2301090 NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690 		JBrowse link
G Fzd2 frizzled class receptor 2 ISO mRNA, protein:increased expression:myometrium RGD PMID:12909487 RGD:2298700 NCBI chrNW_004624795:577,350...584,110
Ensembl chrNW_004624795:578,571...580,235 		JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31468104 NCBI chrNW_004624740:26,627,560...26,632,483
Ensembl chrNW_004624740:26,627,473...26,632,027 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 RGD PMID:8954805 RGD:1601568 NCBI chrNW_004624802:2,337,344...2,468,757
Ensembl chrNW_004624802:2,337,464...2,467,990 		JBrowse link
G Hnrnpm heterogeneous nuclear ribonucleoprotein M ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:18566572 RGD:2301090 NCBI chrNW_004624828:1,199,048...1,250,887 JBrowse link
G Igfbp6 insulin like growth factor binding protein 6 ISO uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray RGD PMID:15705628 RGD:2301708 NCBI chrNW_004624904:1,153,890...1,159,095
Ensembl chrNW_004624904:1,154,882...1,159,209 		JBrowse link
G Inhba inhibin subunit beta A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chrNW_004624740:19,458,835...19,482,570
Ensembl chrNW_004624740:19,464,289...19,482,888 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:translocation:intron:IVS3 (human) RGD PMID:15313893 RGD:9590338 NCBI chrNW_004624754:8,204,266...8,391,328
Ensembl chrNW_004624754:8,204,943...8,392,724 		JBrowse link
G Kif5c kinesin family member 5C ISO mRNA:increased expression:myometrium (human) RGD PMID:20396563 RGD:12859089 NCBI chrNW_004624866:1,526,647...1,698,113
Ensembl chrNW_004624866:1,526,638...1,698,301 		JBrowse link
G Lnpep leucyl and cystinyl aminopeptidase disease_progression ISO associated with Uterine Neoplasms;protein:increased expression:serum RGD PMID:7446622 RGD:2314924 NCBI chrNW_004624743:15,606,873...15,696,593
Ensembl chrNW_004624743:15,606,836...15,705,832 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO RGD PMID:22302692 RGD:6483544 NCBI chrNW_004624737:18,935,686...18,963,907 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:myometrium RGD PMID:17943549 RGD:2290362 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor treatment ISO RGD PMID:22302692 RGD:6483544 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:smooth muscle cell RGD PMID:10671823 RGD:2292088 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Parp1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:21896544 RGD:10413890 NCBI chrNW_004624807:446,662...478,571
Ensembl chrNW_004624807:446,647...479,069 		JBrowse link
G Pcna proliferating cell nuclear antigen treatment ISO protein:increased expression:myometrium RGD PMID:18000229 PMID:21896544 RGD:10413890 RGD:2292498 NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898 		JBrowse link
G Pcp4 Purkinje cell protein 4 ISO mRNA,protein:increased expression:uterine myometrium: RGD PMID:14561813 RGD:9850247 NCBI chrNW_004624745:29,630,990...29,682,965
Ensembl chrNW_004624745:29,630,747...29,682,995 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:myometrium RGD PMID:16294022 RGD:2292153 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Pgr progesterone receptor no_association ISO RGD PMID:15807882 RGD:1601278 NCBI chrNW_004624878:1,714,196...1,769,302
Ensembl chrNW_004624878:1,714,559...1,762,421 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:myometrium
protein:increased phosphorylation:myometrium		 RGD PMID:17097286 PMID:18000229 RGD:2292498 RGD:2292508 NCBI chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Ptger3 prostaglandin E receptor 3 ISO mRNA:increased expression:uterine myometrium (human) RGD PMID:17407572 RGD:10043352 NCBI chrNW_004624742:25,177,340...25,356,911 JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO RGD PMID:12517589 RGD:2292569 NCBI chrNW_004624735:15,356,911...15,713,219
Ensembl chrNW_004624735:15,461,178...15,714,071 		JBrowse link
G Sfrp1 secreted frizzled related protein 1 ISO Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15972578 RGD:2298808 NCBI chrNW_004624780:2,133,105...2,172,301
Ensembl chrNW_004624780:2,132,960...2,174,508 		JBrowse link
G Smad3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22228119 NCBI chrNW_004624781:5,795,652...5,890,047
Ensembl chrNW_004624781:5,795,652...5,890,371 		JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO RGD PMID:17505012 RGD:2302021 NCBI chrNW_004624825:1,773,158...1,899,120
Ensembl chrNW_004624825:1,839,178...1,899,156 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15937110 PMID:21145542 RGD:11568684 NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
G Wnt5b Wnt family member 5B ISO Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15972578 RGD:2298808 NCBI chrNW_004624735:11,222,339...11,326,480
Ensembl chrNW_004624735:11,223,227...11,236,609 		JBrowse link
G Wnt7a Wnt family member 7A ISO Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria RGD PMID:11232041 RGD:2298847 NCBI chrNW_004624796:12,431,310...12,472,303
Ensembl chrNW_004624796:12,431,959...12,472,303 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:polymorphism: :p.R399Q RGD PMID:15760950 RGD:2302578 NCBI chrNW_004624907:1,087,611...1,113,275
Ensembl chrNW_004624907:1,087,611...1,113,266 		JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Multiple cutaneous leiomyomas ClinVar PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 More... NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066 		JBrowse link
leiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd44 CD44 molecule (IN blood group) ISO RGD PMID:15762960 RGD:2296043 NCBI chrNW_004624767:11,938,452...12,024,970
Ensembl chrNW_004624767:11,938,028...12,025,069 		JBrowse link
leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chrNW_004624904:1,520,450...1,535,291
Ensembl chrNW_004624904:1,520,572...1,530,908 		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 chrNW_004624747:5,035,045...5,072,555
Ensembl chrNW_004624747:5,035,200...5,070,332 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004624795:3,162,999...3,167,248
Ensembl chrNW_004624795:3,163,009...3,166,594 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 severity ISO Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) RGD PMID:15823121 RGD:2289964 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chrNW_004624754:22,888,052...22,900,685
Ensembl chrNW_004624754:22,892,226...22,898,807 		JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO Uterine; protein:increased expression:tumor:10/14 tumors (71%) RGD PMID:17367465 RGD:2292170 NCBI chrNW_004624761:14,733,912...14,831,428 JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chrNW_004624814:6,897,818...6,904,890
Ensembl chrNW_004624814:6,897,857...6,903,728 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chrNW_004624751:624,569...647,198 JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chrNW_004624735:9,158,597...9,187,503 JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chrNW_004624741:21,691,099...21,768,267
Ensembl chrNW_004624741:21,691,199...21,767,790 		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 chrNW_004624886:3,827,944...3,873,124
Ensembl chrNW_004624886:3,827,937...3,868,179 		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 chrNW_004624822:4,809,489...4,818,514
Ensembl chrNW_004624822:4,809,405...4,818,515 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO DNA:multiple chromosomal rearrangements RGD PMID:7606786 RGD:1601567 NCBI chrNW_004624802:2,337,344...2,468,757
Ensembl chrNW_004624802:2,337,464...2,467,990 		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 chrNW_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chrNW_004624791:13,975,235...14,056,900 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 chrNW_004624839:4,908,861...5,000,218
Ensembl chrNW_004624839:4,908,639...5,000,677 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chrNW_004624755:7,826,219...8,460,746
Ensembl chrNW_004624755:8,375,596...8,465,297 		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 NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		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 chrNW_004624757:6,294,559...6,335,401
Ensembl chrNW_004624757:6,294,415...6,335,285 		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 chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		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 chrNW_004624765:9,806,231...9,837,454 JBrowse link
ossifying fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391 		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 chrNW_004624765:13,849,689...13,950,839
Ensembl chrNW_004624765:13,857,062...13,947,683 		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 chrNW_004624804:7,262,195...7,371,506
Ensembl chrNW_004624804:7,262,163...7,376,267 		JBrowse link
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chrNW_004624738:7,442,223...7,448,513
Ensembl chrNW_004624738:7,442,292...7,445,020 		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 chrNW_004624738:11,094,699...12,010,349
Ensembl chrNW_004624738:11,095,134...11,288,891 		JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623 		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 chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964 		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 chrNW_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:7053379 RGD:10755426 NCBI chrNW_004624738:9,318,213...9,340,765
Ensembl chrNW_004624738:9,318,232...9,340,925 		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 chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chrNW_004624799:6,100,709...6,126,530
Ensembl chrNW_004624799:6,101,728...6,126,520 		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 chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819 		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 chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653 		JBrowse link
G Igf2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		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 chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911 		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 chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704 		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 chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792 		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 chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		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 chrNW_004624740:31,315,121...31,345,137 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:33372952 NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		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 chrNW_004624791:13,975,235...14,056,900 JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chrNW_004624843:4,728,963...4,732,659
Ensembl chrNW_004624843:4,728,963...4,732,839 		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... NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447 		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 chrNW_004624794:55,907...97,991
Ensembl chrNW_004624794:54,143...98,292 		JBrowse link
G Slc22a18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chrNW_004624767:15,653,083...15,677,691
Ensembl chrNW_004624767:15,653,047...15,677,640 		JBrowse link
G Timm10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chrNW_004624864:3,127,282...3,129,773
Ensembl chrNW_004624864:3,127,286...3,129,773 		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 chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
smooth muscle tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004624735:22,734,365...22,782,247
Ensembl chrNW_004624735:22,734,228...22,782,347 		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 chrNW_004624802:10,847,728...10,852,002
Ensembl chrNW_004624802:10,847,394...10,852,963 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693 		JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877 		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 chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883 		JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004624766:22,240,960...22,245,040
Ensembl chrNW_004624766:22,240,972...22,245,040 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004624793:2,201,815...2,325,002
Ensembl chrNW_004624793:2,202,244...2,324,507 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004624847:2,786,560...2,863,800
Ensembl chrNW_004624847:2,787,319...2,863,853 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO mRNA:decreased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004624809:9,585,426...9,794,582
Ensembl chrNW_004624809:9,586,225...9,793,208 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chrNW_004624795:6,014,044...6,018,819
Ensembl chrNW_004624795:6,015,523...6,018,684 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chrNW_004624771:11,861,537...11,886,154
Ensembl chrNW_004624771:11,856,884...11,887,066 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chrNW_004624802:2,337,344...2,468,757
Ensembl chrNW_004624802:2,337,464...2,467,990 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004624843:1,113,075...1,178,859
Ensembl chrNW_004624843:1,120,974...1,178,859 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
G Ntm neurotrimin treatment ISO RGD PMID:32033718 RGD:596948395 NCBI chrNW_004624812:5,834,367...6,812,623
Ensembl chrNW_004624812:5,834,748...6,812,837 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chrNW_004624750:3,141,442...3,197,821
Ensembl chrNW_004624750:3,141,441...3,197,514 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chrNW_004624752:8,125,472...8,394,809
Ensembl chrNW_004624752:8,137,532...8,336,877 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO OMIM:150699 MouseDO NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953 		JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 BCL2 like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chrNW_004624741:788,445...838,513
Ensembl chrNW_004624741:789,355...839,507 		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 chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284 		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 chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617 		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 chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004624738:27,747,770...27,831,213
Ensembl chrNW_004624738:27,747,696...27,834,054 		JBrowse link
G Irak2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:5,294,464...5,348,426
Ensembl chrNW_004624731:5,294,431...5,348,481 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chrNW_004624878:39,282...47,386
Ensembl chrNW_004624878:39,358...47,075 		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 chrNW_004624764:2,655,138...2,679,138
Ensembl chrNW_004624764:2,650,604...2,679,005 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004624758:15,863,410...15,894,958
Ensembl chrNW_004624758:15,864,204...15,894,529 		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 chrNW_004624731:5,350,912...5,359,286 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14229
    disease of cellular proliferation 6846
      Neoplasms by Histologic Type 4689
        Connective and Soft Tissue Neoplasms 1661
          Soft Tissue Neoplasms 184
            Hapnes Boman Skeie Syndrome 0
            Intimal Sarcoma 0
            Muscle Tissue Neoplasms + 183
            Vascular Neoplasms 1
paths to the root