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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:connective tissue benign neoplasm
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Accession:DOID:0060123 term browser browse the term
Definition:A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO)
Synonyms:exact_synonym: mesenchymal tissue neoplasm;   neoplasm of soft tissue;   neoplasm of soft tissues;   soft tissue benign neoplasm;   tumor of the soft tissue
 xref: NCI:C3377


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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 chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:25,508,082...25,511,058
Ensembl chr 1:25,507,662...25,510,145 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CREB1 cAMP responsive element binding protein 1 ISO OMIM NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112 		JBrowse link
G CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 6:62,443,285...62,446,246
Ensembl chr 6:62,443,675...62,445,994 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902 		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 chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
desmoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504 		JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12973667 PMID:14508707 RGD:1599125 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071 		JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr 8:72,588,578...72,632,259
Ensembl chr 8:72,588,693...72,632,263 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134 		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 chr16:35,579,531...35,676,552
Ensembl chr16:35,579,585...35,674,063 		JBrowse link
G MMP21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr28:34,936,976...34,944,110
Ensembl chr28:34,935,186...34,944,316 		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 chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr30:8,059,463...8,068,742
Ensembl chr30:8,059,512...8,067,940 		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 chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760 		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 OMIM
ClinVar		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 More... NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		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 chr38:5,868,822...5,876,539
Ensembl chr38:5,874,011...5,875,279 		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 chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127 		JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		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 chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile ClinVar PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More... NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		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 chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 OMIM
ClinVar		 PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More... NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283 		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:11102981 PMID:11755616 More... NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219 		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 chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		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 chr13:37,930,906...37,936,653
Ensembl chr13:37,930,621...37,936,753 		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 chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		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 chr38:5,826,209...5,937,930
Ensembl chr38:5,805,916...5,938,111 		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 chr37:11,342,292...11,540,199
Ensembl chr37:11,342,384...11,533,024 		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 chr30:7,144,727...7,248,014
Ensembl chr30:7,144,570...7,248,000 		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 chr10:1,226,626...1,232,575
Ensembl chr10:1,226,415...1,231,810 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075 		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 chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160 		JBrowse link
G BET1L Bet1 golgi vesicular membrane trafficking protein like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr18:25,358,517...25,361,944
Ensembl chr18:25,360,636...25,361,299 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISO mRNA:increased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402 		JBrowse link
G DAPK1 death associated protein kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822 		JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736 		JBrowse link
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G HMGA2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr10:8,348,101...8,491,435 JBrowse link
G IRS1 insulin receptor substrate 1 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr25:39,624,554...39,687,991 JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992 		JBrowse link
G NUAK1 NUAK family kinase 1 ISO mRNA:decreased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr10:32,463,845...32,537,425
Ensembl chr10:32,464,123...32,536,650 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G TNRC6B trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr10:24,852,168...25,094,400
Ensembl chr10:24,813,854...25,094,393 		JBrowse link
G TSC2 TSC complex subunit 2 ISO OMIM:150699 MouseDO NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960 		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 chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		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 chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258 		JBrowse link
G CCND1 cyclin D1 susceptibility 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 chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr10:48,550,836...48,636,776
Ensembl chr10:48,551,410...48,634,844 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr20:8,133,987...8,197,009
Ensembl chr20:8,134,970...8,196,910 		JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222 		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 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr25:36,859,047...36,904,057
Ensembl chr25:36,872,636...36,904,056 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    disease of cellular proliferation 7264
      benign neoplasm 2154
        organ system benign neoplasm 1257
          musculoskeletal system benign neoplasm 120
            connective tissue benign neoplasm 67
              bone benign neoplasm + 30
              chondroblastoma 0
              desmoid tumor 2
              fibroma + 29
              histiocytoma + 7
              infantile myofibromatosis + 2
              lipoadenoma 0
              myofibroma + 0
              nodular tenosynovitis 0
              soft tissue chondroma 0
              synovial angioma 0
              synovium neoplasm + 0
              uterine corpus lipoleiomyoma 0
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        peripheral nervous system disease 4035
          neuropathy 3840
            neuromuscular disease 3016
              muscular disease 2129
                muscle tissue disease 1286
                  Muscle Tissue Neoplasms 178
                    musculoskeletal system benign neoplasm 120
                      connective tissue benign neoplasm 67
                        bone benign neoplasm + 30
                        chondroblastoma 0
                        desmoid tumor 2
                        fibroma + 29
                        histiocytoma + 7
                        infantile myofibromatosis + 2
                        lipoadenoma 0
                        myofibroma + 0
                        nodular tenosynovitis 0
                        soft tissue chondroma 0
                        synovial angioma 0
                        synovium neoplasm + 0
                        uterine corpus lipoleiomyoma 0
paths to the root