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Pathways

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:sarcoma
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Accession:DOID:1115 term browser browse the term
Definition:A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)
Synonyms:exact_synonym: connective and soft tissue neoplasm;   sarcomas;   tumor of soft tissue and skeleton
 narrow_synonym: soft tissue sarcoma;   soft tissue sarcomas
 xref: EFO:0000691;   EFO:1001968;   ICD9CM:171.9;   ICDO:8800/3;   MESH:D012509;   MONDO:0005089;   NCI:C128195;   NCI:C132276;   NCI:C21603;   NCI:C60505;   NCI:C9118;   NCI:C9306
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss1 adenylosuccinate synthase 1 IEP protein:decreased activity:tumor (rat) RGD PMID:2560335 RGD:5143928 NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:137,501,001...137,523,086
JBrowse link
G Adss2 adenylosuccinate synthase 2 IEP protein:increased activity:tumor (rat) RGD PMID:2560335 RGD:5143928 NCBI chr13:89,769,240...89,799,577
Ensembl chr13:92,301,302...92,331,638
JBrowse link
G Atad5 ATPase family, AAA domain containing 5 susceptibility ISO RGD PMID:21901109 RGD:11552595 NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,568,591...65,616,376
JBrowse link
G Atrx ATRX, chromatin remodeler ISO protein:decreased expression: : RGD PMID:26428317 RGD:11536196 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:serum (rat) RGD PMID:25667449 RGD:11528521 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
JBrowse link
G Ccng1 cyclin G1 treatment ISO mRNA:decreased expression: (human) RGD PMID:27982046 PMID:19532136 RGD:151361200, RGD:151361204 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,677,885...25,683,766
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Sarcoma ClinVar PMID:15145354 PMID:21876083 PMID:24713400 PMID:25741868 PMID:28492532 NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11605069 NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
JBrowse link
G Fus Fus RNA binding protein ISO RGD PMID:21677541 PMID:21658743 RGD:5509905, RGD:5509906 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:192,007,006...192,020,884
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705
JBrowse link
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
G Hspb1 heat shock protein family B (small) member 1 disease_progression ISO RGD PMID:21833720 RGD:10402768 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:26,430,640...26,432,301
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:uterus RGD PMID:15823121 RGD:2289964 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
JBrowse link
G Knl1 kinetochore scaffold 1 treatment ISO RGD PMID:31089155 RGD:151660332 NCBI chr 3:126,483,498...126,545,774
Ensembl chr 3:126,483,544...126,545,774
JBrowse link
G Maml3 mastermind-like transcriptional coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:137,871,267...138,287,960
JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:15217956 NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:185,908,168...185,938,782
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO DNA:amplification:cds (human) RGD PMID:1614537 RGD:2317412 NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:55,176,560...55,200,791
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:tumor (human) RGD PMID:7693339 RGD:2317532 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Sarcoma ClinVar PMID:16395668 PMID:18383312 PMID:19389263 PMID:22290698 PMID:24033266 More... NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO RGD PMID:16024598 RGD:8657138 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:148,030,349...148,037,604
JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:87,016,999...87,124,141
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X treatment ISO RGD PMID:31089155 RGD:151660332 NCBI chr 3:89,372,248...89,431,779
Ensembl chr 3:109,827,209...109,886,905
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21760628 RGD:6771216 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sarcoma
CTD
ClinVar
PMID:15520168 PMID:15608678 PMID:15930273 PMID:17673550 PMID:20601955 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B treatment ISO RGD PMID:31089155 RGD:151660332 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760
JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343384 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343384 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 treatment ISO RGD PMID:31089155 RGD:151660332 NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:115,543,290...115,600,943
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 PMID:15675481 PMID:16767912 PMID:17203757 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
JBrowse link
G Tp53 tumor protein p53 treatment
onset
ISO
IMP
ClinVar Annotator: match by term: Sarcoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... RGD:1331525, RGD:151660332, RGD:11075090 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO ClinVar Annotator: match by term: FOXO1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:138,462,697...138,541,419
JBrowse link
G Pax3 paired box 3 ISO 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 9:79,567,455...79,664,042
Ensembl chr 9:87,016,999...87,124,141
JBrowse link
G Pax7 paired box 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
OMIM
CTD
ClinVar
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:157,279,623...157,381,121
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 2:141,651,159...141,766,919
Ensembl chr 2:143,801,181...143,991,950
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr10:105,952,215...105,990,059
Ensembl chr10:106,450,567...106,488,579
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339
JBrowse link
G Mettl21a methyltransferase 21A, HSPA lysine ISO ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma ClinVar PMID:25741868 NCBI chr 9:65,934,253...65,999,964
Ensembl chr 9:73,471,813...73,481,339
JBrowse link
angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:77,790,563...77,841,239
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,473,645...11,582,112
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:12,333,430...12,504,750
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:144,914,147...144,921,216
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285
JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO human cells in mouse model
protein:increased expression:vasculature (human)
RGD PMID:27531900 PMID:27531900 RGD:329955561, RGD:329955561 NCBI chr 1:89,084,306...89,102,279
Ensembl chr 1:89,086,814...89,102,275
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)
CTD
RGD
PMID:17569031 PMID:26440310 RGD:151665099 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:169,804,846...169,836,050
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
DNA:mutations:multiple (human)
CTD
RGD
PMID:24633157 PMID:26440310 PMID:24633157 RGD:151665099, RGD:151361292 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:114,723,006...114,849,991
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
CTD
RGD
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:37,712,251...37,827,845
Ensembl chr16:44,445,293...44,560,887
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880
JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:136,789,770...137,157,639
JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISS
ISO
OMIM:609322
ClinVar Annotator: match by term: Teratoid tumor, atypical
MouseDO
ClinVar
PMID:25741868 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,740,943...12,763,055
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
Avian Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhob ras homolog family member B IDA RGD PMID:1710770 RGD:704375 NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:37,075,015...37,112,772
JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:2598075 PMID:2797856 PMID:2936834 PMID:3313277 PMID:9536098 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates
disease_progression
ISO mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)
RGD PMID:28339091 PMID:27157136 RGD:42722011, RGD:42722013 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:212,210,972...212,218,739
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7795591 PMID:7881418 More... NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600
JBrowse link
breast angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760
JBrowse link
carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:158,547,689...158,569,667
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044
JBrowse link
chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chi3l1 chitinase 3 like 1 ISO mRNA:increased expression:tumor (human) RGD PMID:12598313 RGD:4892624 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:48,193,800...48,201,825
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23770606 PMID:23770606 RGD:8657387 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:epiphyseal plate (human)
OMIM
ClinVar
CTD
RGD
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 More... RGD:13208235 NCBI chr 7:86,265,651...86,544,488
Ensembl chr 7:86,259,900...86,544,567
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IEP protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression IMP RGD PMID:22761648 RGD:10040952 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,770,430...68,802,458
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:19,409,631...19,459,547
JBrowse link
CIC-rearranged sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: CIC-rearranged sarcoma ClinVar PMID:21802064 PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:70,669,710...70,685,686
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,829,832...55,854,560
JBrowse link
G Usf3 upstream transcription factor family member 3 ISO ClinVar Annotator: match by term: CIC-rearranged sarcoma ClinVar NCBI chr11:56,470,738...56,529,736
Ensembl chr11:69,981,620...70,035,805
JBrowse link
clear cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26098867 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:13,360,376...13,402,254
JBrowse link
congenital fibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Congenital fibrosarcoma ClinVar PMID:22508808 PMID:25403219 PMID:28492532 PMID:33024317 PMID:35768194 NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Infantile fibrosarcoma ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
dermatofibrosarcoma protuberans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO DNA:gene fusion:exon
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
RGD PMID:12641779 PMID:22153773 RGD:2292195, RGD:5688300 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:12641779 RGD:2292195 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845
JBrowse link
desmoplastic small round cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf17 TNF receptor superfamily member 17 ISO ClinVar Annotator: match by term: Desmoplastic small round cell tumor ClinVar PMID:26822237 NCBI chr10:4,808,023...4,813,857 JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:13,360,376...13,402,254
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:106,021,161...106,023,871
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26822237 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:10,225,204...10,241,965
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:13,380,551...13,451,437
JBrowse link
Embryonal Rhabdomyosarcoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a18 solute carrier family 22, member 18 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:208,101,136...208,124,380
JBrowse link
Embryonal Rhabdomyosarcoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
OMIM
CTD
ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23620094 More... NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:129,396,014...129,457,252
JBrowse link
endodermal sinus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha-fetoprotein ISO protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649
JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:177,891,705...177,909,743
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
JBrowse link
G Wnt2b Wnt family member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144
JBrowse link
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:17367465 RGD:2292170 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812
JBrowse link
epithelioid sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO protein:decreased expression:epithelial cell: RGD PMID:19033866 RGD:155804293 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,740,943...12,763,055
JBrowse link
Ewing sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952
JBrowse link
G Cd99 CD99 molecule (Xg blood group) ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868 NCBI chr20:54,418,239...54,422,882 JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More... NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:64,771,147...64,775,163
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chr 3:15,658,479...15,673,762
Ensembl chr 3:36,056,370...36,075,192
JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,050,149...21,057,748
JBrowse link
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 More... RGD:1598915 NCBI chr14:79,965,365...79,994,108
Ensembl chr14:84,179,618...84,208,095
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11772151 PMID:16646077 PMID:26214589 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:39,089,533...39,208,557
JBrowse link
G Kdm3a lysine demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:105,189,208...105,233,370
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor ClinVar PMID:7607663 PMID:9385374 PMID:9463322 PMID:10607834 PMID:10712197 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More... NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:64,774,910...64,777,726
JBrowse link
Experimental Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase IDA RGD PMID:7407223 RGD:1598794 NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:81,154,604...81,258,277
JBrowse link
G Alb albumin ISO mRNA,protein:decreased expression:liver,serum: RGD PMID:1900492 RGD:11035284 NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:9743294 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725
JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:2119881 RGD:10755752 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
JBrowse link
G Kras KRAS proto-oncogene, GTPase IAGP A to T transversion; Gln to His substitution RGD PMID:11295286 RGD:1598680 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
JBrowse link
G Nras NRAS proto-oncogene, GTPase IAGP DNA:transversion:exon p.Q61L (human) RGD PMID:11295286 RGD:1598680 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543
JBrowse link
G Slc6a14 solute carrier family 6 member 14 IEP mRNA, protein:increased expression:brush border epithelial cell RGD PMID:17006743 RGD:1625275 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:117,108,947...117,169,828
JBrowse link
extraosseous Ewing sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Ewing sarcoma of soft tissue ClinVar PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556
JBrowse link
extraskeletal myxoid chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO ClinVar Annotator: match by term: Extraskeletal myxoid chondrosarcoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:67,157,375...67,198,285
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO ClinVar Annotator: match by term: Extraskeletal myxoid chondrosarcoma | ClinVar Annotator: match by term: TAF15-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,770,430...68,802,458
JBrowse link
fibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO RGD PMID:17971488 RGD:5688275 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:84,731,180...84,850,288
JBrowse link
G Egr1 early growth response 1 ISO human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:11059781 RGD:8547752 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:25,237,952...25,248,357
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
JBrowse link
follicular dendritic cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma ClinVar PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More... NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
JBrowse link
gestational trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou5f1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18440631 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,227,837...3,232,598
JBrowse link
Hydatidiform Mole term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cga glycoprotein hormones, alpha polypeptide ISO protein:increased expression:serum RGD PMID:2473429 RGD:2293636 NCBI chr 5:54,283,109...54,295,464
Ensembl chr 5:54,235,019...54,295,464
JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO protein:increased expression:trophoblast, decidua: RGD PMID:32447180 RGD:155791666 NCBI chr10:87,804,893...87,852,181
Ensembl chr10:88,304,992...88,346,299
JBrowse link
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydatidiform mole
CTD
ClinVar
PMID:25741868 NCBI chr 8:82,722,980...82,724,884
Ensembl chr 8:82,722,980...82,724,884
JBrowse link
G Mlh1 mutL homolog 1 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:120,065,900...120,112,011
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:syncytiotrophoblast cell RGD PMID:16884384 RGD:2290363 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
JBrowse link
G Msh2 mutS homolog 2 ISO DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:78,659,262...78,703,273
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
JBrowse link
Hydatidiform Mole, Invasive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh2 mutS homolog 2 ISO protein:decreased expression:mononuclear cytotrophoblast cell RGD PMID:15338238 RGD:2293517 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
JBrowse link
Hydatidiform Mole, Recurrent, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kir3dl1 killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 ClinVar PMID:19066229 PMID:21507883 PMID:24105752 NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 1 | ClinVar Annotator: match by term: NLRP7-related condition ClinVar PMID:11598368 PMID:14756744 PMID:16239310 PMID:16462743 PMID:18039680 More... NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:78,659,262...78,703,273
JBrowse link
Hydatidiform Mole, Recurrent, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Khdc3 KH domain containing 3, subcortical maternal complex member ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2 | ClinVar Annotator: match by term: KHDC3L-related condition OMIM
ClinVar
PMID:11932746 PMID:19246479 PMID:21623199 PMID:21885028 PMID:23125094 More... NCBI chr 8:82,722,980...82,724,884
Ensembl chr 8:82,722,980...82,724,884
JBrowse link
Hydatidiform Mole, Recurrent, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mei1 meiotic double-stranded break formation protein 1 ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 3 | ClinVar Annotator: match by term: MEI1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388401 NCBI chr 7:115,470,256...115,523,618
Ensembl chr 7:115,470,256...115,523,616
JBrowse link
Hydatidiform Mole, Recurrent, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4 | ClinVar Annotator: match by term: TOP6BL-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388401 NCBI chr 1:201,902,564...201,989,945
Ensembl chr 1:211,331,827...211,419,015
JBrowse link
Kaposi's sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bptf bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:28492532 PMID:38380509 NCBI chr10:91,980,279...92,082,731
Ensembl chr10:92,480,007...92,582,413
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO mRNA:increased expression:zone of skin (human) RGD PMID:18804962 RGD:155663668 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kaposi's sarcoma
CTD
OMIM
ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma treatment ISO RGD PMID:21665152 RGD:38599159 NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:54,478,603...54,529,509
JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:223,141,802...223,324,210
JBrowse link
leiomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO protein:increased expression:myometrium RGD PMID:17988723 RGD:2315651 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:135,457,922...135,471,104
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO associated with Myometrial Neoplasms;protein:increased expression:myometrium RGD PMID:18156978 RGD:2296049 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Leiomyosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:51,070,273...53,437,835
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 severity ISO Uterine RGD PMID:15823121 RGD:2289964 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:12,333,430...12,504,750
JBrowse link
G Hmga1 high mobility group AT-hook 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr20:5,611,088...5,618,755
Ensembl chr20:5,613,471...5,620,593
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine RGD PMID:17367465 RGD:2292170 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812
JBrowse link
G Med12 mediator complex subunit 12 ISO DNA:missense mutations:cds: RGD PMID:26891131 RGD:11353203 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645019 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:myometrium RGD PMID:10652422 RGD:2298564 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26555296 NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:156,143,815...156,171,292
JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO mRNA:increased expression:uterus (human) RGD PMID:24485798 RGD:11041788 NCBI chr 3:154,888,558...154,962,519
Ensembl chr 3:154,890,061...154,962,486
JBrowse link
liposarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin-dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:20601955 PMID:23569312 NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:64,771,147...64,775,163
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: therapeutic CTD PMID:20372807 NCBI chr10:106,570,415...106,588,581
Ensembl chr10:106,570,413...106,588,583
JBrowse link
G Fus Fus RNA binding protein ISO RGD PMID:20332486 RGD:5509913 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:192,007,006...192,020,884
JBrowse link
G Il22 interleukin 22 ISS MouseDO NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:55,686,896...55,692,201
JBrowse link
G Mir155 microRNA 155 disease_progression ISO RGD PMID:28036291 RGD:25314299 NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
JBrowse link
G Yeats4 YEATS domain containing 4 ISO CTD Direct Evidence: therapeutic CTD PMID:20601955 NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:54,744,221...54,751,361
JBrowse link
localized osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccng1 cyclin G1 treatment ISO human cells in mouse model RGD PMID:9322869 RGD:151356969 NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,677,885...25,683,766
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 chr16:56,545,462...56,633,649
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
meninges sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP RGD PMID:27528400 RGD:12738450 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
mesenchymal chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
JBrowse link
G Cd99 CD99 molecule (Xg blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr20:54,418,239...54,422,882 JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12817616 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516
JBrowse link
myeloid sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Leukemia, Myeloid, Acute;protein:increased expression:blood, leukocyte RGD PMID:20582977 RGD:8661751 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO associated with Leukemia, Myeloid, Acute;DNA:missense mutation:exon:p.G12C (human) RGD PMID:23564351 RGD:11060142 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha treatment ISO RGD PMID:22348015 RGD:11075098 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516
JBrowse link
myxoid liposarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddit3 DNA-damage inducible transcript 3 ISO DNA:translocation: ;t(12;16)(q13;p11)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:1283316 PMID:7503811 PMID:8510758 PMID:1283316 RGD:1599726 NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509
JBrowse link
G Fus Fus RNA binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:7503811 PMID:8510758 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:192,007,006...192,020,884
JBrowse link
neurofibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO RGD PMID:10554031 RGD:8552377 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
JBrowse link
G Mxi1 MAX interactor 1, dimerization protein ISO ClinVar Annotator: match by term: Neurofibrosarcoma ClinVar
RGD
PMID:10470286 PMID:10470286 RGD:1600205 NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:262,328,875...262,389,036
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16239399 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:peripheral nerve RGD PMID:10554031 RGD:8552377 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:12,094,346...12,131,693
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar
PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More... NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:76,810,108...77,077,580
JBrowse link
osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 IEP mRNA,protein:decreased expression:osteoblast: RGD PMID:19825367 RGD:5147850 NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:43,199,008...43,225,557
JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:13,360,376...13,402,254
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:21311599 NCBI chr17:86,240,683...86,250,044
Ensembl chr17:86,243,491...86,250,024
JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,866,997...11,946,923
JBrowse link
G Cbl Cbl proto-oncogene ISO protein:decreased expression:bone RGD PMID:22623369 RGD:126925238 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067
JBrowse link
G Ccnb3 cyclin B3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22387997 NCBI chr  X:18,149,915...18,214,801
Ensembl chr  X:18,149,915...18,214,801
JBrowse link
G Cdc5l cell division cycle 5-like ISO DNA:amplification:cds (human) RGD PMID:18567798 RGD:10047050 NCBI chr 9:15,564,949...15,603,453
Ensembl chr 9:23,062,205...23,100,899
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Osteoblastic osteosarcoma ClinVar PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8573142 More... NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD
ClinVar
OMIM
PMID:2598075 PMID:2797856 PMID:2936834 PMID:3313277 PMID:9536098 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667
JBrowse link
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 IAGP DNA:deletion (rat) RGD PMID:19825367 RGD:5147850 NCBI chr 1:14,132,303...14,134,746
Ensembl chr 1:14,103,457...14,134,782
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ameliorates ISO human cells in mouse model RGD PMID:31571016 RGD:152025557 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459
JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr12:14,321,771...14,343,886
Ensembl chr12:14,321,771...14,343,857
JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity ISO protein:increased expression:bone (human)
human cells in mouse model
RGD PMID:29039472 PMID:29039472 RGD:151347601, RGD:151347601 NCBI chr20:3,047,269...3,069,277
Ensembl chr20:3,050,375...3,069,276
JBrowse link
G Dhfr dihydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr 2:23,585,876...23,611,199 JBrowse link
G E2f1 E2F transcription factor 1 severity ISO protein:increased expression:bone (human)
human cells in mouse model
RGD PMID:29039472 PMID:29039472 RGD:151347601, RGD:151347601 NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates ISO human EFEMP2 knockdown cell line in a mouse model RGD PMID:28339091 RGD:42722011 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:212,210,972...212,218,739
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
JBrowse link
G Egr1 early growth response 1 ISO mRNA:decreased expression:tumor (human) RGD PMID:21283769 RGD:5131662 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:103,405,788...103,431,649
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit severity ISO DNA:silent mutation:cds:p.N118N (human) RGD PMID:23098477 RGD:13207418 NCBI chr 1:88,099,308...88,135,966
Ensembl chr 1:88,118,891...88,139,120
JBrowse link
G Esrra estrogen related receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24967384 PMID:34524571 NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:213,533,310...213,543,811
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14767549 PMID:26265454 RGD:11532507 NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183
JBrowse link
G Folr1 folate receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17473184 NCBI chr 1:165,631,462...165,650,430
Ensembl chr 1:165,631,462...165,642,669
JBrowse link
G Grm4 glutamate metabotropic receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23727862 NCBI chr20:5,484,172...5,572,821
Ensembl chr20:5,482,977...5,574,668
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:198,295,442...198,300,667
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:20577141 RGD:5135042 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:198,219,647...198,222,731
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17152492 NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:210,767,237...210,769,705
JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34524571 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370
JBrowse link
G Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 treatment ISO RGD PMID:19449377 RGD:13792789 NCBI chr  X:21,089,142...21,091,603
Ensembl chr  X:24,568,551...24,574,681
JBrowse link
G Il3 interleukin 3 IMP RGD PMID:11268282 RGD:2317666 NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645001 NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22248279 NCBI chr13:103,722,140...104,024,762
Ensembl chr13:106,253,213...106,555,710
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23886186 NCBI chr18:45,964,544...45,977,431
Ensembl chr18:48,165,688...48,239,810
JBrowse link
G Lzic leucine zipper and CTNNBIP1 domain containing IEP RGD PMID:19444910 RGD:2314410 NCBI chr 5:159,928,260...159,941,512
Ensembl chr 5:165,211,302...165,224,568
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821
JBrowse link
G Mir106b microRNA 106b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:22,157,053...22,157,134 JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:97,384,380...97,384,461
JBrowse link
G Mir328 microRNA 328 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:50,094,691...50,094,774 JBrowse link
G Mir494 microRNA 494 severity
ameliorates
ISO RGD PMID:35117781 PMID:35117781 RGD:156430319, RGD:156430319 NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:134,550,114...134,550,198
JBrowse link
G Mir93 microRNA 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22510560 NCBI chr12:17,043,135...17,043,221 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25605016 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
JBrowse link
G Msh6 mutS homolog 6 disease_progression ISO RGD PMID:25503122 RGD:126848779 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22235915 NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515
JBrowse link
G Mthfr methylenetetrahydrofolate reductase treatment ISO DNA:transition:cds:g.677C>T (human) RGD PMID:19159907 RGD:6893634 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:34508303 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
JBrowse link
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17279585 NCBI chr11:62,460,213...62,496,665
Ensembl chr11:75,965,632...76,002,380
JBrowse link
G Phlda2 pleckstrin homology-like domain, family A, member 2 ISO CTD Direct Evidence: therapeutic CTD PMID:22021909 NCBI chr 1:198,696,897...198,699,292
Ensembl chr 1:208,126,302...208,127,920
JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:muscle tissue (human) RGD PMID:22390931 RGD:11535057 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708
JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23911960 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:40,084,430...40,091,006
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr 7:10,493,199...10,502,957
Ensembl chr 7:10,493,200...10,502,957
JBrowse link
G Pth parathyroid hormone ISO human protein in rat model RGD PMID:22688001 RGD:7242897 NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B disease_progression ISO mRNA:decreased expression:bone (human) RGD PMID:31829261 RGD:151361289 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Osteosarcoma, somatic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7795591 PMID:8364580 PMID:9311732 PMID:15776430 PMID:15884040 More... NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
JBrowse link
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19159907 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:43,319,935...43,395,026
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr13:56,018,546...56,022,889
Ensembl chr13:58,568,844...58,573,187
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24646477 PMID:25307878 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in rat model
human protein in a mouse model
RGD PMID:17479108 PMID:17458711 RGD:8633656, RGD:8655561 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793039 NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:119,454,541...119,496,350
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,770,430...68,802,458
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:60,182,035...60,194,706
JBrowse link
G Tp53 tumor protein p53 ISO
ISS
IMP
CTD Direct Evidence: marker/mechanism|therapeutic
ClinVar Annotator: match by term: Osteosarcoma, somatic
OMIM:259500
CTD
ClinVar
OMIM
MouseDO
RGD
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... RGD:12738450 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:20158913 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28107196 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444
JBrowse link
G Zmiz1 zinc finger, MIZ-type containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34508303 NCBI chr16:1,033,983...1,239,425
Ensembl chr16:1,034,020...1,239,406
JBrowse link
G Zw10 zw10 kinetochore protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:14767549 NCBI chr 8:58,292,959...58,317,881
Ensembl chr 8:58,293,018...58,318,279
JBrowse link
peripheral osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: High grade surface osteosarcoma ClinVar PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15897384 More... NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258
JBrowse link
Phyllodes Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A severity ISO RGD PMID:17090194 RGD:2289654 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:nucleus RGD PMID:12898599 RGD:2289832 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
JBrowse link
G Egfr epidermal growth factor receptor disease_progression ISO protein:increased expression:tumor RGD PMID:11206334 RGD:2289951 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 disease_progression ISO RGD PMID:11206334 RGD:2289951 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:1,579,816...1,601,120
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:11206334 RGD:2289951 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:breast (human) RGD PMID:16168127 RGD:8694472 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity ISO RGD PMID:15044924 RGD:2292419 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708
JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:breast RGD PMID:15917410 RGD:2292077 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664
JBrowse link
G Pcna proliferating cell nuclear antigen disease_progression ISO RGD PMID:10374321 RGD:2315010 NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:139,951,941...139,955,901
JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr10:84,379,780...84,424,371
Ensembl chr10:84,389,622...84,425,160
JBrowse link
G Rb1 RB transcriptional corepressor 1 severity ISO protein:increased expression:breast RGD PMID:15981808 RGD:2299889 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863
JBrowse link
G Tfrc transferrin receptor ISO protein:increased expression:myoepithelial cell RGD PMID:2174150 RGD:2292026 NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:16889904 RGD:2290545 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
placental site trophoblastic tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO protein:increased expression:placenta, trophoblast cells (human) RGD PMID:20868507 RGD:243065141 NCBI chr  X:136,789,770...137,157,598
Ensembl chr  X:136,789,770...137,157,639
JBrowse link
prostate malignant phyllodes tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk1c10 kallikrein 1-related peptidase C10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22360509 NCBI chr 1:94,402,993...94,407,052
Ensembl chr 1:103,539,527...103,543,586
JBrowse link
rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:28,632,197...29,349,721
JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:blood vessel (rat) RGD PMID:17849463 RGD:2314204 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:77,790,563...77,841,239
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IEP RGD PMID:7053379 RGD:10755426 NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:31,012,091...31,035,297
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More... NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:53,384,656...53,468,067
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A IDA DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle RGD PMID:21565688 RGD:8552662 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19509271 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:53,204,260...53,239,252
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More... NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:129,396,014...129,457,252
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7981680 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:205,729,409...205,744,759
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More... NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:12,567,368...12,626,503
JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More... NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:8302341 More... NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD
ClinVar
PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 More... NCBI chr12:15,790,478...15,814,790
Ensembl chr12:15,790,478...15,815,248
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD
ClinVar
RGD
PMID:19155313 PMID:33372952 PMID:19321799 RGD:150523834 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:94,624,196...94,628,276
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More... NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:30,764,590...30,790,121
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:86,077,134...86,098,044
JBrowse link
G Slc22a18 solute carrier family 22, member 18 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic ClinVar PMID:9520460 NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:208,101,136...208,124,380
JBrowse link
G Timm10 translocase of inner mitochondrial membrane 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16669873 NCBI chr 3:69,908,397...69,911,943
Ensembl chr 3:90,315,092...90,318,614
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma ClinVar PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16116481 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Ring dermoid of cornea
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15378534 PMID:15591271 PMID:21052876 PMID:22224469 PMID:22569110 More... NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
JBrowse link
round cell sarcoma with EWSR1-non-ETS fusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ewsr1 EWS RNA-binding protein 1 ISO ClinVar Annotator: match by term: EWSR1-related condition ClinVar PMID:28492532 NCBI chr14:79,965,365...79,994,108
Ensembl chr14:84,179,618...84,208,095
JBrowse link
Sarcoma, Yoshida term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase treatment IMP RGD PMID:8138551 RGD:11251753 NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:209,293,929...210,159,778
JBrowse link
skeletal muscle cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir222 microRNA 222 IEP RNA:increased expression: triceps surae muscle RGD PMID:23447020 RGD:151893488 NCBI chr  X:6,022,621...6,022,723
Ensembl chr  X:6,022,621...6,022,723
JBrowse link
spindle cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Spindle cell sarcoma ClinVar PMID:28890946 NCBI chr14:83,850,894...83,934,263
Ensembl chr14:83,850,894...83,934,151
JBrowse link
synovial sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: therapeutic CTD PMID:16450387 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
JBrowse link
G Shcbp1 SHC binding and spindle associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27572315 NCBI chr16:84,672,277...84,703,843
Ensembl chr16:91,373,871...91,405,409
JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO RGD PMID:26520417 RGD:11069485 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,740,943...12,763,055
JBrowse link
G Ss18 SS18 subunit of BAF chromatin remodeling complex ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9428816 PMID:27572315 PMID:7951320 RGD:1599184 NCBI chr18:5,773,042...5,835,696
Ensembl chr18:6,047,619...6,109,913
JBrowse link
G Ssx1 SSX family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9428816 PMID:27572315 NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:16,604,449...16,612,210
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15043115 NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746
JBrowse link
teratocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha-fetoprotein ISO protein:increased expression:serum RGD PMID:68943 RGD:2292041 NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649
JBrowse link
G Dab2 DAB adaptor protein 2 ISO ClinVar Annotator: match by term: Teratocarcinoma ClinVar PMID:25741868 NCBI chr 2:55,514,692...55,567,476
Ensembl chr 2:57,242,064...57,294,888
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 IAGP compared to WKY RGD PMID:22655094 RGD:40924659 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,652,712...28,655,336
JBrowse link
G Dnd1ter DND microRNA-mediated repression inhibitor 1, ter mutant IAGP compared to WKY RGD PMID:22655094 RGD:40924659
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:18719115 RGD:2306169 NCBI chr 1:207,160,175...207,162,851 JBrowse link
teratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff1 ALF transcription elongation factor 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr14:5,861,188...6,024,196
Ensembl chr14:6,169,562...6,328,879
JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 5:158,075,370...158,218,358
Ensembl chr 5:158,075,370...158,180,685
JBrowse link
G Bax BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17390059 RGD:2296025 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:136,599,900...136,710,335
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:98,408,058...98,449,104
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266
JBrowse link
G Cripto cripto, EGF-CFC family member treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:119,803,220...119,808,948
JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:53,827,835...53,860,977
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:13,544,389...13,624,729
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772
JBrowse link
G Etnk1 ethanolamine kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:176,126,056...176,170,325
Ensembl chr 4:177,856,960...177,924,721
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr10:33,913,725...33,954,770
Ensembl chr10:34,414,733...34,456,645
JBrowse link
G H19 H19 imprinted maternally expressed transcript ISO RGD PMID:10521301 RGD:2306183 NCBI chr 1:207,160,175...207,162,851 JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:143,439,323...143,467,248
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr14:90,468,696...90,556,522
Ensembl chr14:90,469,172...90,557,574
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:3,980,544...4,014,029
JBrowse link
G Nanog Nanog homeobox severity ISO mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell RGD PMID:20817694 RGD:9681441 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:157,615,687...157,623,061
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr10:79,403,939...79,426,620
Ensembl chr10:79,403,940...79,413,310
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr10:78,898,097...78,903,514
Ensembl chr20:11,179,066...11,179,497
Ensembl chr10:11,179,066...11,179,497
JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:69,663,068...69,675,050
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:119,710,737...119,770,159
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 8:96,398,331...96,416,045
Ensembl chr 8:96,398,269...96,416,021
JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr11:63,673,796...63,775,905
Ensembl chr11:77,179,209...77,281,268
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO RGD PMID:23575676 RGD:151660354 NCBI chr 7:53,816,197...53,920,760
Ensembl chr 7:53,816,097...53,920,760
JBrowse link
G Rabep1 rabaptin, RAB GTPase binding effector protein 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr10:55,566,156...55,667,595
Ensembl chr10:56,064,753...56,166,177
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863
JBrowse link
G Slc45a3 solute carrier family 45, member 3 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr13:43,407,293...43,427,588
Ensembl chr13:45,959,467...45,979,763
JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:58,060,640...58,459,925
JBrowse link
G Ssx1 SSX family member 1 ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr  X:16,603,888...16,612,203
Ensembl chr  X:16,604,449...16,612,210
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Teratoma ClinVar NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
JBrowse link
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: Teratoma ClinVar PMID:25741868 NCBI chr12:9,738,006...9,827,708
Ensembl chr12:14,851,758...14,941,407
JBrowse link
G Tymp thymidine phosphorylase ISO protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:122,316,520...122,324,003
JBrowse link
G Wnt2b Wnt family member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144
JBrowse link
trophoblastic neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ang angiogenin ISO protein:increased expression:serum RGD PMID:12705339 RGD:2325706 NCBI chr15:26,786,233...26,796,883
Ensembl chr15:26,786,065...26,801,106
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO Gestational Trophoblastic Neoplasms, MeSH:D031901 RGD PMID:16757546 RGD:2292132 NCBI chr13:47,327,159...47,332,759
Ensembl chr13:47,327,004...47,332,906
JBrowse link
uterine carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO RGD PMID:16803529 RGD:2296053 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO Uterine Carcinosarcoma RGD PMID:17367465 RGD:2292170 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,903,033...32,978,812
JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21919130 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002
JBrowse link
uterine corpus sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tes testin LIM domain protein ameliorates ISO RGD PMID:15701871 RGD:597621683 NCBI chr 4:46,331,257...46,369,782
Ensembl chr 4:46,331,257...46,369,780
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      cancer 5732
        cell type cancer 3786
          sarcoma 280
            Ewing sarcoma + 11
            Experimental Sarcoma + 9
            Kaposi's sarcoma + 8
            Mesodermal Mixed Tumor 0
            Phyllodes Tumor + 18
            Plexosarcoma 0
            adenosarcoma + 0
            alveolar soft part sarcoma 1
            angiosarcoma + 22
            anus sarcoma + 0
            bile duct sarcoma + 0
            bladder sarcoma 0
            bone sarcoma + 83
            breast sarcoma + 3
            carcinosarcoma + 5
            central nervous system sarcoma + 2
            clear cell sarcoma + 1
            colon sarcoma + 0
            dendritic cell sarcoma + 1
            endometrial stromal tumor + 1
            epithelioid sarcoma + 1
            esophagus sarcoma + 0
            fibrosarcoma + 16
            gallbladder sarcoma + 0
            germ cell and embryonal cancer + 71
            heart sarcoma + 0
            kidney sarcoma + 0
            larynx sarcoma + 0
            leiomyosarcoma + 16
            liposarcoma + 8
            liver sarcoma + 0
            lung sarcoma + 0
            lymphangiosarcoma + 0
            malignant fibrous histiocytoma + 5
            malignant hemangioma + 0
            mast-cell sarcoma 0
            mediastinum sarcoma + 0
            muscle cancer + 53
            myeloid sarcoma + 3
            myxofibrosarcoma 0
            myxosarcoma 0
            orbit sarcoma + 0
            ovary sarcoma + 0
            pancreas sarcoma 0
            paranasal sinus sarcoma 0
            penis sarcoma 0
            prostate sarcoma + 0
            rectum sarcoma + 0
            sarcomatosis + 0
            skin sarcoma + 0
            small cell sarcoma + 5
            small intestinal sarcoma + 0
            spindle cell sarcoma + 1
            synovial sarcoma + 6
            testis sarcoma + 0
            thyroid sarcoma + 0
            trachea sarcoma 0
            undifferentiated sarcoma + 5
            uterine corpus sarcoma + 1
            vagina sarcoma + 0
            vulvar sarcoma + 0
paths to the root