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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 chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		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 chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976 		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 chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		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 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339 		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 chr13:95,065,085...95,076,695
Ensembl chr13:95,065,085...95,076,695 		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 chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:237,222,432...237,225,883 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,654,237...3,699,800 		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 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		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 chr10:101,755,404...101,764,616
Ensembl chr10:101,755,404...101,757,636 		JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:26778290 PMID:27476652 PMID:28492532 PMID:31726051 More... NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,814,327...8,830,558 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO
ISS 		ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
CTD Direct Evidence: marker/mechanism
DNA: missense mutations: exon :p.H1047R, p.H1047L 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347 		JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr 8:55,098,821...55,121,416
Ensembl chr 8:55,098,806...55,121,382 		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 chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		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 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		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: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:108,988,830...109,055,214 		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 chr14:11,845,774...11,986,166
Ensembl chr14:11,845,700...11,986,168 		JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit IMP RGD PMID:18456653 RGD:9586716 NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:137,855,449...137,902,386 		JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:6,878,545...7,273,443 		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 chr16:63,248,833...63,336,441
Ensembl chr16:63,250,455...63,336,602 		JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 1:197,910,178...197,915,847
Ensembl chr 1:197,910,178...197,915,847 		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 chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:126,770,794...126,780,763 		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 2:95,003,935...95,006,457
Ensembl chr 2:95,002,943...95,007,624 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:100,573,523...100,614,913 		JBrowse link
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072 		JBrowse link
hereditary desmoid disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1316610 PMID:1319838 PMID:1324223 PMID:1338764 PMID:1338904 More... NCBI chr18:26,138,382...26,196,021
Ensembl chr18:26,102,679...26,197,022 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation ClinVar PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 More... NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		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 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382 		JBrowse link
Hyperparathyroidism 2 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: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY | 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 chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma 		CTD
ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 4:121,148,102...121,335,549
Ensembl chr 4:121,148,103...121,336,892 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:123,855,289...123,984,716 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr10:34,414,834...34,455,878
Ensembl chr10:34,414,733...34,456,645 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY | ClinVar Annotator: match by term: KDR-related condition 		CTD
ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		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 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		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 chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		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 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		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 chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233 		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 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		JBrowse link
Lipoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:16308870 NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:21,702,987...21,711,240 		JBrowse link
lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO RGD PMID:7606786 RGD:1601567 NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:57,765,675...57,880,341 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Lipoma, somatic ClinVar PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 More... NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: MFHAS1-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr16:63,248,833...63,336,441
Ensembl chr16:63,250,455...63,336,602 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment ISO human cell line in mouse model RGD PMID:23166610 RGD:7242013 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		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 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM
ClinVar		 PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 More... NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:72,203,598...72,242,287 		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 chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		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 9:68,685,942...68,801,353
Ensembl chr 9:68,685,988...68,801,350 		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 3:125,810,207...125,895,574
Ensembl chr 3:125,810,060...125,895,574 		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 7:65,382,863...65,389,527
Ensembl chr 7:65,382,863...65,389,255 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313952 PMID:23313954 NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:65,365,306...65,383,795 		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 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973 		JBrowse link
tenosynovial giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1b HNF1 homeobox B ISO CTD Direct Evidence: marker/mechanism CTD PMID:39887605 NCBI chr10:69,233,377...69,287,360
Ensembl chr10:69,233,131...69,287,361 		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 3:172,818,174...172,842,283
Ensembl chr 3:172,818,176...172,842,293 		JBrowse link
G Bet1l Bet1 golgi vesicular membrane trafficking protein-like ISO DNA:SNP:rs2280543(human) RGD PMID:23892540 RGD:14394614 NCBI chr 1:205,361,041...205,365,036
Ensembl chr 1:205,361,041...205,364,706 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,561,335...80,566,711 		JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627 		JBrowse link
G Gstm5l glutathione S-transferase, mu 5-like ISO mRNA:decreased expression:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 2:198,231,285...198,238,122
Ensembl chr 2:198,232,596...198,238,252 		JBrowse link
G Hmga2 high mobility group AT-hook 2 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:57,765,675...57,880,341 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO DNA:hypomethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:90,993,519...91,054,538 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:26822237 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Ntm neurotrimin treatment ISO RGD PMID:32033718 RGD:596948395 NCBI chr 8:35,634,929...36,625,081
Ensembl chr 8:35,635,640...36,624,807 		JBrowse link
G Nuak1 NUAK family kinase 1 ISO DNA:hypermethylation:uterus (human) RGD PMID:23818951 RGD:401851920 NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:21,217,681...21,289,354 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Uterine leiomyoma ClinVar PMID:25741868 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Tnrc6b trinucleotide repeat containing adaptor 6B severity ISO DNA:SNP: :rs12484776(human) RGD PMID:23892540 RGD:14394614 NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:114,132,573...114,342,973 		JBrowse link
G Tsc2 TSC complex subunit 2 ISS OMIM:150699 MouseDO NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		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 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
CTD Direct Evidence: marker/mechanism 		ClinVar
OMIM
CTD		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826 		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 5:158,547,775...158,568,589
Ensembl chr 5:158,547,689...158,569,667 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:25,408,485...25,453,786
Ensembl chr16:25,420,243...25,453,786 		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 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      benign neoplasm 1215
        organ system benign neoplasm 639
          musculoskeletal system benign neoplasm 124
            connective tissue benign neoplasm 75
              bone benign neoplasm + 28
              desmoid tumor 2
              fibroma + 30
              histiocytoma + 7
              infantile myofibromatosis + 2
              lipoadenoma 0
              lipoma + 10
              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 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        peripheral nervous system disease 2242
          neuropathy 2032
            neuromuscular disease 1464
              muscular disease 1132
                muscle tissue disease 724
                  Muscle Tissue Neoplasms 169
                    musculoskeletal system benign neoplasm 124
                      connective tissue benign neoplasm 75
                        bone benign neoplasm + 28
                        desmoid tumor 2
                        fibroma + 30
                        histiocytoma + 7
                        infantile myofibromatosis + 2
                        lipoadenoma 0
                        lipoma + 10
                        myofibroma + 0
                        nodular tenosynovitis 0
                        soft tissue chondroma 0
                        synovial angioma 0
                        synovium neoplasm + 0
                        uterine corpus lipoleiomyoma 0
paths to the root