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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CCN2 cellular communication network factor 2 IEP mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility IAGP associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		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 IAGP
EXP		 ClinVar Annotator: match by term: FOXO1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641 		JBrowse link
G LOC126806529 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 IAGP ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:25741868 NCBI chr 2:222,220,016...222,221,215 JBrowse link
G PAX3 paired box 3 IAGP
EXP		 DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... RGD:1580944 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PAX7 paired box 7 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866 		JBrowse link
G TP73 tumor protein p73 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:149,517,235...149,724,788
Ensembl chr 3:149,517,235...149,736,714 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr17:81,977,629...82,017,406
Ensembl chr17:81,976,807...82,017,406 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		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 IAGP
EXP		 ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988 		JBrowse link
G METTL21A methyltransferase 21A, HSPA lysine IAGP ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma ClinVar PMID:25741868 NCBI chr 2:207,580,635...207,626,053
Ensembl chr 2:207,580,631...207,625,928 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3A H3.3 histone A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		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 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G CCN1 cellular communication network factor 1 disease_progression IEP mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		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 IAGP 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 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Carney triad
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA		 ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		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 IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3B H3.3 histone B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893 		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 IAGP ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:26778290 PMID:27476652 PMID:28492532 PMID:31726051 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP
ISS
EXP		 DNA: missense mutations: exon :p.H1047R, p.H1047L
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
OMIM:612918
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 More... RGD:13207409 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		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 IAGP ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr11:117,204,337...117,232,073
Ensembl chr11:117,204,337...117,232,525 		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 IAGP ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 3:41,224,408...41,225,607 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 ERVFRD-3 endogenous retrovirus group FRD member 3 IAGP ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma ClinVar PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 9:21,929,257...21,931,273
Ensembl chr 9:21,929,457...21,931,073 		JBrowse link
G MTAP methylthioadenosine phosphorylase IAGP
EXP		 ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G BCOR BCL6 corepressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G MYOD1 myogenic differentiation 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26822237 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		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 IAGP
EXP		 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:23728841 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12973667 PMID:14508707 PMID:14508707 RGD:1599125 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		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 IEP RGD PMID:9973190 RGD:1599928 NCBI chr 8:8,783,354...8,893,630
Ensembl chr 8:8,783,354...8,893,630 		JBrowse link
G MMP21 matrix metallopeptidase 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr10:125,766,453...125,775,821
Ensembl chr10:125,753,580...125,775,821 		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 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259 		JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		JBrowse link
G NOTCH4 notch receptor 4 IEP mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067 		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 IAGP
EXP		 ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation		 ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Desmoid disease, hereditary
ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation		 ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC129994371 ATAC-STARR-seq lymphoblastoid active region 22910 IAGP ClinVar Annotator: match by term: Desmoid disease, hereditary ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:112,707,478...112,707,537 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 ISO RGD PMID:15048723 RGD:9685182 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874 		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 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613 		JBrowse link
G CDC73 cell division cycle 73 IAGP
EXP		 ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		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 IAGP
EXP		 ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP
EXP		 ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY		 OMIM
ClinVar
CTD		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624 		JBrowse link
G KDR kinase insert domain receptor susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KDR-related condition		 ClinVar
CTD
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression IEP RGD PMID:26957058 RGD:155663370 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP
IAGP
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: 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 chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 IAGP ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 ClinVar PMID:23731542 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 OMIM
ClinVar		 PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 IAGP ClinVar Annotator: match by term: Myofibromatosis, infantile, 2 ClinVar
OMIM		 PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 More... NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		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 IEP protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr12:53,423,855...53,431,672
Ensembl chr12:53,423,855...53,431,672 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IEP associated with Myometrial Neoplasms;protein:increased expression:myometrium RGD PMID:18156978 RGD:2296049 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813 		JBrowse link
G DMD dystrophin EXP CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 severity IEP Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008) RGD PMID:15823121 RGD:2289964 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G HMGA1 high mobility group AT-hook 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IEP Uterine; protein:increased expression:tumor:10/14 tumors (71%) RGD PMID:17367465 RGD:2292170 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MED12 mediator complex subunit 12 IAGP DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G TERT telomerase reverse transcriptase IEP mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G USP18 ubiquitin specific peptidase 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397 		JBrowse link
G XRN2 5'-3' exoribonuclease 2 IEP mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr20:21,303,331...21,389,825
Ensembl chr20:21,303,331...21,389,825 		JBrowse link
Lipoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAG1 PLAG1 zinc finger EXP CTD Direct Evidence: marker/mechanism CTD PMID:16308870 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP DNA:multiple chromosomal rearrangements RGD PMID:7606786 RGD:1601567 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Lipoma, somatic ClinVar PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More... NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		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 IAGP ClinVar Annotator: match by term: MFHAS1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:8,783,354...8,893,630
Ensembl chr 8:8,783,354...8,893,630 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha treatment IDA human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP ClinVar Annotator: match by term: Malignant fibrous histiocytoma ClinVar PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		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 LOC126807054 BRD4-independent group 4 enhancer GRCh37_chr4:55147260-55148459 IAGP ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
ClinVar Annotator: match by term: PDGFRA-related condition		 ClinVar PMID:24728327 PMID:25741868 PMID:35101336 NCBI chr 4:54,281,093...54,282,292 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM
ClinVar		 PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 More... NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		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 IAGP ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 2:206,274,663...206,314,427
Ensembl chr 2:206,274,663...206,314,427 		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 IAGP ClinVar Annotator: match by term: Ossifying fibroma of the jaw ClinVar PMID:27658992 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		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 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 IAGP ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591 		JBrowse link
G LOC130056813 ATAC-STARR-seq lymphoblastoid silent region 6314 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: EIF2AK4-related condition		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:39,933,988...39,934,397 JBrowse link
Rhabdomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:10908253 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		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 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 More... NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO RGD PMID:7053379 RGD:10755426 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle RGD PMID:21565688 RGD:8552662 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More... NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:8302341 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component EXP
IAGP		 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 chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G PTCH1 patched 1 EXP
IAGP
ISO		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma		 CTD
ClinVar
RGD		 PMID:19155313 PMID:33372952 PMID:19321799 RGD:150523834 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PTMA prothymosin alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More... NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More... NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G TIMM10 translocase of inner mitochondrial membrane 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr11:57,528,464...57,530,754
Ensembl chr11:57,528,464...57,530,803 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G VEGFA vascular endothelial growth factor A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487 		JBrowse link
skeletal muscle cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR222 microRNA 222 ISO RNA:increased expression: triceps surae muscle RGD PMID:23447020 RGD:151893488 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		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 IAGP DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		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 IAGP DNA:polymorphisms: : RGD PMID:26918693 RGD:152995264 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like IAGP DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr11:202,924...207,399
Ensembl chr11:167,784...207,399 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP
IEP		 DNA:hypomethylation:uterus (human)
mRNA:increased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP
IEP		 DNA:hypomethylation:uterus (human)
mRNA:increased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP
IEP		 DNA:hypomethylation:uterus (human)
mRNA:increased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G DAPK1 death associated protein kinase 1 IAGP
IEP		 DNA:hypermethylation:uterus (human)
mRNA:decreased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr 9:87,497,228...87,708,634
Ensembl chr 9:87,497,228...87,708,634 		JBrowse link
G DLX3 distal-less homeobox 3 IAGP ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224 		JBrowse link
G FH fumarate hydratase IAGP ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G GSTM5 glutathione S-transferase mu 5 IAGP
IEP		 DNA:hypermethylation:uterus (human)
mRNA:decreased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr 1:109,711,751...109,718,268
Ensembl chr 1:109,711,780...109,775,428 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G IRS1 insulin receptor substrate 1 IAGP
IEP		 DNA:hypomethylation:uterus (human)
mRNA:increased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G NTM neurotrimin treatment IEP RGD PMID:32033718 RGD:596948395 NCBI chr11:131,370,615...132,336,822
Ensembl chr11:131,370,478...132,336,822 		JBrowse link
G NUAK1 NUAK family kinase 1 IAGP
IEP		 DNA:hypermethylation:uterus (human)
mRNA:decreased expression:uterus (human)		 RGD PMID:23818951 PMID:23818951 RGD:401851920, RGD:401851920 NCBI chr12:106,063,345...106,138,954
Ensembl chr12:106,063,345...106,138,954 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B severity IAGP DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808 		JBrowse link
G TSC2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		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 IEP associated with Carcinoma, Renal Cell;protein:increased expression:uterus RGD PMID:16962107 RGD:1643479 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989 		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 IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G CCND1 cyclin D1 IAGP
EXP		 ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G LOC107303339 3p25 BRK1 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,120,032...10,138,833 JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome		 ClinVar PMID:982991 PMID:1056348 PMID:2844285 PMID:4843792 PMID:7553625 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MMP3 matrix metallopeptidase 3 onset IAGP RGD PMID:19551141 RGD:7241233 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 IEP mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:20,144,855...20,183,136
Ensembl chr 8:20,144,855...20,183,206 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP
ISS
EXP		 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:193300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    disease of cellular proliferation 26421
      benign neoplasm 3995
        organ system benign neoplasm 2483
          musculoskeletal system benign neoplasm 683
            ameloblastoma + 2
            connective tissue benign neoplasm + 631
            muscle benign neoplasm + 56
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      nervous system disease 70715
        peripheral nervous system disease 7674
          neuropathy 7121
            neuromuscular disease 5430
              muscular disease 3794
                muscle tissue disease 2570
                  Muscle Tissue Neoplasms 742
                    musculoskeletal system benign neoplasm 683
                      ameloblastoma + 2
                      connective tissue benign neoplasm + 631
                      muscle benign neoplasm + 56
paths to the root