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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)


show annotations for term's descendants           Sort by:
Abdominal Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Aggressive fibromatosis ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790 		JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma		 CTD
ClinVar
OMIM
RGD		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... RGD:1580944 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pax7 paired box 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979 		JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968 		JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:105,952,215...105,990,059
Ensembl chr10:105,952,227...105,989,904 		JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908 		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 chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		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 chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709 		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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY		 OMIM
CTD
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26619011 PMID:26822237 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 More... NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12973667 PMID:14508707 PMID:14508707 RGD:1599125 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit IMP RGD PMID:18456653 RGD:9586716 NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170 		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 chr16:56,545,462...56,633,649
Ensembl chr16:56,546,207...56,633,743 		JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855 		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 chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klrk1 killer cell lectin like receptor K1 treatment IDA RGD PMID:15048723 RGD:9685182 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		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 chr13:55,389,406...55,398,419
Ensembl chr13:55,389,406...55,398,419 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
infantile myofibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile
OMIM:228550 | OMIM:615293		 CTD
ClinVar
MouseDO		 PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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 chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Myometrial Neoplasms;protein:increased expression:myometrium RGD PMID:18156978 RGD:2296049 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		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 chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO Uterine RGD PMID:15823121 RGD:2289964 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,611,694...5,618,752 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine RGD PMID:17367465 RGD:2292170 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306 		JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		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 chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619 		JBrowse link
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM
ClinVar		 PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 More... NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
ossifying fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809 		JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		JBrowse link
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Rhabdomyoma ClinVar PMID:10205261 PMID:17304050 PMID:25741868 PMID:28492532 PMID:32211034 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:22184391 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:20104584 PMID:21232165 PMID:22923021 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IEP RGD PMID:7053379 RGD:10755426 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		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 chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IDA DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle RGD PMID:21565688 RGD:8552662 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099 		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 chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19809159 PMID:24124571 NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242 		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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		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 chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma		 CTD
ClinVar		 PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 More... NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma		 CTD
ClinVar
RGD		 PMID:19155313 PMID:33372952 PMID:19321799 RGD:150523834 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		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 chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333 		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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		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 chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 PMID:25741868 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975 		JBrowse link
G Timm10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 3:69,908,397...69,911,943
Ensembl chr 3:69,908,456...69,911,940 		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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
skeletal muscle cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir222 microRNA 222 IEP RNA:increased expression: triceps surae muscle RGD PMID:23447020 RGD:151893488 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		JBrowse link
smooth muscle tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		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 chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
subserous uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790 		JBrowse link
uterine fibroid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase susceptibility ISO DNA:polymorphisms: : RGD PMID:26918693 RGD:152995264 NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088 		JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 1:195,931,407...195,935,072
Ensembl chr 1:195,931,411...195,935,040 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266 		JBrowse link
G Gstm5l glutathione S-transferase, mu 5-like ISO mRNA:decreased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 2:195,544,424...195,549,895
Ensembl chr 2:195,544,426...195,628,961 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:55,877,145...55,998,813
Ensembl chr 7:55,880,112...55,994,784 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:112,252,351...112,469,829
Ensembl chr 7:112,252,359...112,461,790 		JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
uterus interstitial leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF		 CTD
OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
ISS		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      benign neoplasm 2230
        organ system benign neoplasm 1302
          musculoskeletal system benign neoplasm 122
            ameloblastoma + 2
            connective tissue benign neoplasm + 69
            muscle benign neoplasm + 57
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  Muscle Tissue Neoplasms 179
                    musculoskeletal system benign neoplasm 122
                      ameloblastoma + 2
                      connective tissue benign neoplasm + 69
                      muscle benign neoplasm + 57
paths to the root