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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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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 ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624765:8,374,160...8,436,969 JBrowse link
G Mettl21a methyltransferase 21A, HSPA lysine ISO ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma ClinVar PMID:25741868 NCBI chrNW_004624765:8,354,693...8,421,768
Ensembl chrNW_004624765:8,354,692...8,367,200 		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 Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853 		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:26778290 PMID:27476652 PMID:28492532 PMID:31726051 More... 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 Slc67a1 solute carrier family 67 member 1 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
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 | 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
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 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma OMIM
ClinVar		 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 OMIM
ClinVar		 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
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
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:8302341 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 Slc67a1 solute carrier family 67 member 1 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 mRNA:increased expression: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 mRNA:increased expression: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 mRNA:decreased expression: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
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 ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar		 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: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
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 14230
    disease of cellular proliferation 6851
      benign neoplasm 1969
        organ system benign neoplasm 1171
          musculoskeletal system benign neoplasm 128
            ameloblastoma + 2
            connective tissue benign neoplasm + 79
            muscle benign neoplasm + 53
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12272
        peripheral nervous system disease 4078
          neuropathy 3902
            neuromuscular disease 3005
              muscular disease 2080
                muscle tissue disease 1254
                  Muscle Tissue Neoplasms 185
                    musculoskeletal system benign neoplasm 128
                      ameloblastoma + 2
                      connective tissue benign neoplasm + 79
                      muscle benign neoplasm + 53
paths to the root