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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Connective and Soft Tissue Neoplasms
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Accession:DOID:9008612 term browser browse the term
Definition:Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.
Synonyms:primary_id: MESH:D018204


show annotations for term's descendants           Sort by:
Abdominal Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
adenomatoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf7 TNF receptor-associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chr17:24,727,824...24,746,912
Ensembl chr17:24,727,536...24,746,912 		JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult spinal cord ependymoma ClinVar NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995 		JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Aggressive fibromatosis ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo1 forkhead box O1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 3:52,175,758...52,257,530
Ensembl chr 3:52,175,757...52,260,642 		JBrowse link
G Pax3 paired box 3 ISO DNA:translocations: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma		 CTD
ClinVar
OMIM
RGD		 PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... RGD:1580944 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		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 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839 		JBrowse link
G Trp73 transformation related protein 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:57,363,065...57,483,331
Ensembl chr 3:57,363,070...57,483,331 		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 chr11:120,563,878...120,600,273
Ensembl chr11:120,563,799...120,600,273 		JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
anaplastic astrocytoma 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: Astrocytoma, anaplastic ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
anaplastic ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr11:119,280,778...119,378,245
Ensembl chr11:119,283,926...119,378,244 		JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037 		JBrowse link
anaplastic oligodendroglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Anaplastic oligodendroglioma ClinVar NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584 		JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707 		JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA-glycosylase 1 no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)		 RGD PMID:19265534 PMID:17932460 PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		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 chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Jun jun proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:94,937,273...94,940,459
Ensembl chr 4:94,937,271...94,940,459 		JBrowse link
G Kcnn4 potassium intermediate/small conductance 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 7:24,069,750...24,084,635
Ensembl chr 7:24,069,688...24,086,115 		JBrowse link
G Kdr kinase insert domain protein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiosarcoma		 CTD
ClinVar		 PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20147967 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)		 CTD
RGD		 PMID:17569031 PMID:26440310 RGD:151665099 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 2:160,573,230...160,617,680
Ensembl chr 2:160,573,220...160,617,680 		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 chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213 		JBrowse link
G Trp53 transformation related protein 53 ISO
IAGP
EXP		 CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)		 CTD
RGD		 PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:54,530,567...54,639,489
Ensembl chr 8:54,530,641...54,640,131 		JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:52,138,280...52,138,364
Ensembl chr  X:52,138,280...52,138,364 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340 		JBrowse link
astroblastoma, MN1-altered term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702 		JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		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:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:51,361,303...51,702,851
Ensembl chr  X:51,361,303...51,702,827 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP
ISO		 OMIM:609322
ClinVar Annotator: match by term: Teratoid tumor, atypical		 MouseDO
ClinVar		 PMID:25741868 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		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 ISO RGD PMID:1710770 RGD:704375 NCBI chr12:8,547,661...8,550,009
Ensembl chr12:8,547,661...8,550,009 		JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508 		JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More... NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like 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 chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:9311732 More... NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
Bone Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate receptor, metabotropic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:brain (human) RGD PMID:24589652 RGD:153297816 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332 		JBrowse link
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling IEP human, rat, and/or mouse glioma cells in a mouse model RGD PMID:30790292 RGD:150573813 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3 ADAM metallopeptidase domain 3 ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr 8:25,167,248...25,216,393
Ensembl chr 8:25,167,241...25,215,868 		JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322 		JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 IEP mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200 		JBrowse link
G Fas Fas cell surface death receptor treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fasl Fas ligand treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064 		JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:23510544 RGD:151665742 NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430 		JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Mir21a microRNA 21a ISO human cells in mouse model; RNA:increased expression:brain (human) RGD PMID:25059666 RGD:152998875 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO protein:increased expression:brain (human)
human cell in mouse model		 RGD PMID:33900414 PMID:16923162 RGD:151660356, RGD:151660368 NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 IEP mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876 		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 protein receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440 		JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b wingless-type MMTV integration site family, member 7B ISO RGD PMID:8168088 RGD:2291878 NCBI chr15:85,419,638...85,466,022
Ensembl chr15:85,419,638...85,466,674 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		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 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		JBrowse link
Carney complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 ClinVar PMID:11115848 PMID:19293268 PMID:24170103 PMID:25741868 PMID:28492532 NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO
IAGP		 ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Carney myxoma-endocrine complex | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity
OMIM:160980 | OMIM:605244 | OMIM:608837
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More... NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
Carney Complex Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carney complex variant		 OMIM
CTD
ClinVar		 PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chr11:67,167,950...67,199,460
Ensembl chr11:67,167,950...67,199,460 		JBrowse link
G Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Carney complex variant ClinVar PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,720 		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, subunit A, flavoprotein (Fp) 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 chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 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 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein 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 chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
Carney-Stratakis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310030G06Rik RIKEN cDNA 2310030G06 gene ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,650,991...50,657,827
Ensembl chr 9:50,650,991...50,657,836 		JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,686,570...50,754,939
Ensembl chr 9:50,686,319...50,754,842 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:51,013,486...51,031,224
Ensembl chr 9:50,972,201...51,031,175 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,672,674...50,679,536
Ensembl chr 9:50,674,128...50,686,820 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,574,052...50,650,900
Ensembl chr 9:50,574,052...50,650,817 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,545,933...50,571,080
Ensembl chr 9:50,545,933...50,571,080 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,679,538...50,683,981
Ensembl chr 9:50,679,536...50,684,648 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378 		JBrowse link
G Hspb2 heat shock protein 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,662,372...50,663,654
Ensembl chr 9:50,662,378...50,663,654 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,966,323...50,988,501
Ensembl chr 9:50,965,940...50,988,394 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor ClinVar PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532 NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,516,542...50,528,567
Ensembl chr 9:50,516,540...50,528,764 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,528,621...50,536,300
Ensembl chr 9:50,528,621...50,536,300 		JBrowse link
G Pou2af1 POU domain, class 2, associating factor 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:51,124,990...51,151,379
Ensembl chr 9:51,125,008...51,151,380 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:51,181,558...51,189,865
Ensembl chr 9:51,181,558...51,190,951 		JBrowse link
G Ppp2r1b protein phosphatase 2, regulatory subunit A, beta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,767,946...50,810,625
Ensembl chr 9:50,756,601...50,805,529 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 More... NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172 		JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,800,944...50,920,432
Ensembl chr 9:50,804,101...50,920,373 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chr 9:50,515,227...50,516,620
Ensembl chr 9:50,515,210...50,516,620 		JBrowse link
cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr13:92,348,387...92,491,515
Ensembl chr13:92,348,380...92,491,511 		JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320 		JBrowse link
childhood astrocytic tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ameliorates
susceptibility		 ISO DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human)
DNA:SNP:cds:rs4809324 (human)		 RGD PMID:26014354 PMID:26014354 RGD:152985535, RGD:152985535 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen-activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317 		JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788 		JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl3 myosin, light polypeptide 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type		 OMIM
CTD
ClinVar		 PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213 		JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140 		JBrowse link
G Ihh Indian hedgehog IEP RGD PMID:26091072 RGD:12910968 NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:26091072 RGD:12910968 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		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 chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23770606 PMID:23770606 RGD:8657387 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		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:9521425 PMID:10679937 PMID:11170095 More... RGD:13208235 NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO RGD PMID:22761648 RGD:10040952 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569 		JBrowse link
chordoid glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkca protein kinase C, alpha ISO DNA:mutation:cds:c.1387G>C,p.D463H(human) RGD PMID:29476136 RGD:13782058 NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754 		JBrowse link
chordoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Chordoma ClinVar PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: Chordoma ClinVar NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Chordoma ClinVar PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 More... NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G T brachyury, T-box transcription factor T ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801981 PMID:23064415 NCBI chr17:8,653,255...8,661,328
Ensembl chr17:8,653,255...8,661,328 		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 chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 8:3,200,922...3,329,649
Ensembl chr 8:3,172,061...3,329,617 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013 		JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643 		JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385 		JBrowse link
G Atp7b ATPase, copper transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976 		JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835 		JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496 		JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443 		JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370 		JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,618,282...59,678,329 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275 		JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073 		JBrowse link
G Klf12 Kruppel-like transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323 		JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756 		JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,386...102,172,146 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289 		JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559 		JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421 		JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968 		JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732 		JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451 		JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115 		JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763 		JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714 		JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233 		JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692 		JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335 		JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582 		JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940 		JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395 		JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561 		JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958 		JBrowse link
CIC-rearranged sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c21 aldo-keto reductase family 1, member C21 ISO ClinVar Annotator: match by term: CIC-rearranged sarcoma ClinVar PMID:21802064 NCBI chr13:4,624,074...4,636,542
Ensembl chr13:4,624,074...4,636,540 		JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862 		JBrowse link
G Usf3 upstream transcription factor family member 3 ISO ClinVar Annotator: match by term: CIC-rearranged sarcoma ClinVar NCBI chr16:43,993,566...44,047,828
Ensembl chr16:43,993,609...44,047,828 		JBrowse link
clear cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26098867 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:27476652 NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO
IAGP		 ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
CTD Direct Evidence: marker/mechanism
DNA: missense mutations: exon :p.H1047R, p.H1047L		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		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 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Infantile fibrosarcoma ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Corpus callosum lipoma ClinVar PMID:25741868 NCBI chr 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024 		JBrowse link
cutaneous mastocytosis 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 ClinVar Annotator: match by term: Cutaneous mastocytosis ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Kitl kit ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		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 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 chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:12641779 RGD:2292195 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		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 IAGP OMIM:166950 MouseDO NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751 		JBrowse link
desmoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		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 tumor necrosis factor receptor superfamily, member 17 ISO ClinVar Annotator: match by term: Desmoplastic small round cell tumor ClinVar PMID:26822237 NCBI chr16:11,131,131...11,137,938
Ensembl chr16:11,131,676...11,137,938 		JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2310034G01Rik RIKEN cDNA 2310034G01 gene ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,336,640...46,337,427
Ensembl chr19:46,336,640...46,338,741 		JBrowse link
G Actr1a ARP1 actin-related protein 1A, centractin alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,365,252...46,384,180
Ensembl chr19:46,365,250...46,384,187 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873 		JBrowse link
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		JBrowse link
G As3mt arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,695,124...46,729,538
Ensembl chr19:46,695,897...46,729,538 		JBrowse link
G Atp5mk ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,071,910...47,079,086
Ensembl chr19:47,071,903...47,079,086 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,678,345...46,691,821
Ensembl chr19:46,678,345...46,691,821 		JBrowse link
G Calhm1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,129,474...47,132,613
Ensembl chr19:47,129,348...47,132,693 		JBrowse link
G Calhm2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,120,671...47,126,733
Ensembl chr19:47,093,792...47,126,733 		JBrowse link
G Calhm3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,140,138...47,146,203
Ensembl chr19:47,140,048...47,146,203 		JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,723,706...47,825,893
Ensembl chr19:47,725,296...47,907,726 		JBrowse link
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,926,151...48,023,818
Ensembl chr19:47,926,114...48,023,826 		JBrowse link
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631 		JBrowse link
G Col17a1 collagen, type XVII, alpha 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,853,879...47,874,747
Ensembl chr19:47,853,973...47,874,763 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,003,120...47,013,766
Ensembl chr19:47,003,137...47,013,766 		JBrowse link
G Itprip inositol 1,4,5-triphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,883,029...47,907,738
Ensembl chr19:47,883,041...47,907,738 		JBrowse link
G LOC110408763 Cyp17a1 promoter ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,661,307...46,662,356 JBrowse link
G Mfsd13a major facilitator superfamily domain containing 13a ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,345,315...46,363,693
Ensembl chr19:46,329,560...46,363,691 		JBrowse link
G Neurl1a neuralized E3 ubiquitin protein ligase 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,167,259...47,247,880
Ensembl chr19:47,167,259...47,247,880 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592 		JBrowse link
G Pcgf6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,022,056...47,039,379
Ensembl chr19:47,022,056...47,039,345 		JBrowse link
G Pdcd11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,079,183...47,119,585
Ensembl chr19:47,079,207...47,120,304 		JBrowse link
G Sfr1 SWI5 dependent recombination repair 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,720,159...47,724,027
Ensembl chr19:47,720,121...47,724,027 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,561,798...46,585,340
Ensembl chr19:46,561,804...46,586,505 		JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840 		JBrowse link
G Slk STE20-like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,568,458...47,633,685
Ensembl chr19:47,568,117...47,633,685 		JBrowse link
G Sorcs3 sortilin-related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:48,194,464...48,793,944
Ensembl chr19:48,194,464...48,793,944 		JBrowse link
G Stn1 STN1, CST complex subunit ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Taf5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:47,056,187...47,071,918
Ensembl chr19:47,056,185...47,071,918 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287 		JBrowse link
G Wbp1l WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,587,545...46,645,828
Ensembl chr19:46,587,523...46,645,828 		JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY		 OMIM
CTD
ClinVar		 PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chr 4:89,055,607...89,099,327
Ensembl chr 4:89,055,359...89,099,318 		JBrowse link
diffuse cutaneous mastocytosis 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 ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS ClinVar PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
diffuse intrinsic pontine glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622 		JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133 		JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		JBrowse link
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072 		JBrowse link
G Dmd dystrophin, muscular dystrophy ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:26619011 PMID:26822237 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Setd2 SET domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701 		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 chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		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 (organic cation transporter), member 18 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 7:143,027,502...143,053,071
Ensembl chr 7:143,027,473...143,053,071 		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 type III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 More... NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		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 chr 5:90,638,573...90,656,766
Ensembl chr 5:90,638,596...90,656,766 		JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354 		JBrowse link
G Sall4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		JBrowse link
G Wnt2b wingless-type MMTV integration site family, member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 3:104,852,121...104,869,025
Ensembl chr 3:104,852,588...104,869,237 		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 chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c B cell CLL/lymphoma 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,260,626...127,307,938
Ensembl chr 7:127,260,628...127,308,105 		JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299 		JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323 		JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		JBrowse link
G Shc3 src homology 2 domain-containing transforming protein C3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr13:51,577,422...51,724,909
Ensembl chr13:51,585,077...51,723,523 		JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000 		JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen, type IV, alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Col4a6 collagen, type IV, alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:139,948,399...140,257,091
Ensembl chr  X:139,948,399...140,257,072 		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 chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
Ewing sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Cd99 CD99 antigen ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868
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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chr 2:32,252,724...32,268,311
Ensembl chr 2:32,242,339...32,270,982 		JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018 		JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 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 chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266 		JBrowse link
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11772151 PMID:16646077 PMID:26214589 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157 		JBrowse link
G Kdm3a lysine (K)-specific demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974 		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:10494088 PMID:10607834 More... NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		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 chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133 		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 ISO RGD PMID:7407223 RGD:1598794 NCBI chr 2:75,662,477...75,761,694
Ensembl chr 2:75,662,521...75,761,694 		JBrowse link
G Alb albumin IEP mRNA,protein:decreased expression:liver,serum: RGD PMID:1900492 RGD:11035284 NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:9743294 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504 		JBrowse link
G Ifng interferon gamma treatment IAGP RGD PMID:2119881 RGD:10755752 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO A to T transversion; Gln to His substitution RGD PMID:11295286 RGD:1598680 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Nras neuroblastoma ras oncogene ISO DNA:transversion:exon p.Q61L (human) RGD PMID:11295286 RGD:1598680 NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Slc6a14 solute carrier family 6 (neurotransmitter transporter), member 14 ISO mRNA, protein:increased expression:brush border epithelial cell RGD PMID:17006743 RGD:1625275 NCBI chr  X:21,581,139...21,608,597
Ensembl chr  X:21,581,135...21,608,594 		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 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447 		JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO ClinVar Annotator: match by term: TAF15-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569 		JBrowse link
Familial Atrial Myxoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Familial atrial myxoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631 		JBrowse link
familial glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754 		JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma		 ClinVar
RGD		 PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... RGD:8547984 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
Fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fosl1 fos-like antigen 1 ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038752 PMID:26437033 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768 		JBrowse link
G Wnt2 wingless-type MMTV integration site family, member 2 ISO mRNA:increased expression:breast RGD PMID:8168088 RGD:2291878 NCBI chr 6:17,988,939...18,032,771
Ensembl chr 6:17,988,939...18,030,584 		JBrowse link
G Wnt4 wingless-type MMTV integration site family, member 4 ISO breast fibroadenoma RGD PMID:8168088 RGD:2291878 NCBI chr 4:137,004,946...137,026,812
Ensembl chr 4:137,004,800...137,027,037 		JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12973667 PMID:14508707 RGD:1599125 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100 		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 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031 		JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ameliorates IAGP DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331 		JBrowse link
G Egr1 early growth response 1 IMP human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 susceptibility IMP RGD PMID:11238917 RGD:11567233 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 severity IMP RGD PMID:11059781 RGD:8547752 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Tert telomerase reverse transcriptase treatment IMP RGD PMID:19903903 RGD:11038656 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447 		JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 malignant fibrous histiocytoma amplified sequence 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chr 8:36,054,922...36,146,603
Ensembl chr 8:36,054,952...36,146,603 		JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 7:133,275,999...133,281,790
Ensembl chr 7:133,275,999...133,281,790 		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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
gastrointestinal stromal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700025G04Rik RIKEN cDNA 1700025G04 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:151,760,275...151,967,941
Ensembl chr 1:151,728,154...151,965,876 		JBrowse link
G 2310009B15Rik RIKEN cDNA 2310009B15 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:138,779,717...138,784,592
Ensembl chr 1:138,779,721...138,784,590 		JBrowse link
G 2310022B05Rik RIKEN cDNA 2310022B05 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:125,362,495...125,390,108
Ensembl chr 8:125,362,495...125,390,108 		JBrowse link
G 2310033P09Rik RIKEN cDNA 2310033P09 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr11:59,099,187...59,101,562
Ensembl chr11:59,099,147...59,101,564 		JBrowse link
G 4930523C07Rik RIKEN cDNA 4930523C07 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:159,871,950...159,906,157
Ensembl chr 1:159,871,952...159,907,778 		JBrowse link
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205 		JBrowse link
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648 		JBrowse link
G A130010J15Rik RIKEN cDNA A130010J15 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:192,855,777...192,860,145
Ensembl chr 1:192,850,354...192,860,140 		JBrowse link
G AA986860 expressed sequence AA986860 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:130,659,707...130,672,359
Ensembl chr 1:130,659,713...130,672,359 		JBrowse link
G Aasdh aminoadipate-semialdehyde dehydrogenase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 NCBI chr 5:77,021,506...77,053,376
Ensembl chr 5:77,021,506...77,053,361 		JBrowse link
G Abcb10 ATP-binding cassette, sub-family B member 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,679,198...124,709,877
Ensembl chr 8:124,679,198...124,709,861 		JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138 		JBrowse link
G Acbd3 acyl-Coenzyme A binding domain containing 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:180,553,608...180,581,769
Ensembl chr 1:180,553,608...180,581,769 		JBrowse link
G Acbd6 acyl-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076 		JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:173,159,457...173,161,079
Ensembl chr 1:173,159,453...173,161,317 		JBrowse link
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615 		JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641 		JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303 		JBrowse link
G Adamts4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,077,698...171,089,836
Ensembl chr 1:171,077,990...171,088,206 		JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228 		JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Adcy10 adenylate cyclase 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:165,309,114...165,404,347
Ensembl chr 1:165,312,752...165,404,343 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089 		JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169 		JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:177,590,742...177,624,064
Ensembl chr 1:177,590,528...177,624,077 		JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:179,572,469...179,631,580
Ensembl chr 1:179,572,459...179,631,245 		JBrowse link
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:183,078,604...183,105,356
Ensembl chr 1:183,078,134...183,106,331 		JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:173,177,105...173,293,606
Ensembl chr 1:173,178,445...173,293,606 		JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Aldh9a1 aldehyde dehydrogenase 9, subfamily A1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:167,177,560...167,196,100
Ensembl chr 1:167,177,560...167,196,101 		JBrowse link
G Angel2 angel homolog 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:190,657,305...190,679,160
Ensembl chr 1:190,657,309...190,679,159 		JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:156,666,495...156,688,648
Ensembl chr 1:156,666,132...156,688,648 		JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,503,599...96,507,442
Ensembl chr 3:96,503,952...96,507,091 		JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,577,447...96,598,350
Ensembl chr 3:96,577,447...96,598,348 		JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068 		JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702 		JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487 		JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine ClinVar PMID:25741868 PMID:26530882 PMID:28492532 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605 		JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608 		JBrowse link
G Aph1a aph1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600 		JBrowse link
G Apoa2 apolipoprotein A-II ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948 		JBrowse link
G Apobec4 apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:152,626,302...152,633,295
Ensembl chr 1:152,626,302...152,633,295 		JBrowse link
G Aqp10-ps aquaporin 10, pseudogene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998 		JBrowse link
G Arf1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr11:59,102,237...59,119,042
Ensembl chr11:59,102,238...59,119,096 		JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,216,528...171,237,808
Ensembl chr 1:171,216,522...171,237,866 		JBrowse link
G Arhgef11 Rho guanine nucleotide exchange factor 11 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,524,855...87,645,346
Ensembl chr 3:87,524,866...87,645,341 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		JBrowse link
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188 		JBrowse link
G Arl8a ADP-ribosylation factor-like 8A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:135,074,572...135,084,007
Ensembl chr 1:135,074,562...135,084,007 		JBrowse link
G Arl9 ADP-ribosylation factor-like 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 NCBI chr 5:77,146,054...77,158,806
Ensembl chr 5:77,151,902...77,158,453 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551 		JBrowse link
G Arpc5 actin related protein 2/3 complex, subunit 5 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:152,642,293...152,651,331
Ensembl chr 1:152,642,293...152,651,348 		JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:125,448,765...125,469,533
Ensembl chr 8:125,448,878...125,460,862 		JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:135,978,321...135,979,810
Ensembl chr 1:135,978,542...135,979,108 		JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682 		JBrowse link
G Aspm abnormal spindle microtubule assembly ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351 		JBrowse link
G Atf3 activating transcription factor 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:190,902,493...190,915,530
Ensembl chr 1:190,902,493...190,950,236 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
G Atp1a4 ATPase, Na+/K+ transporting, alpha 4 polypeptide ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,051,075...172,085,991
Ensembl chr 1:172,051,080...172,085,981 		JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924 		JBrowse link
G Atp2b4 ATPase, Ca++ transporting, plasma membrane 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:133,630,416...133,728,755
Ensembl chr 1:133,627,195...133,728,779 		JBrowse link
G Atp6v1g3 ATPase, H+ transporting, lysosomal V1 subunit G3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:138,201,476...138,217,200
Ensembl chr 1:138,201,476...138,217,200 		JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:131,526,908...131,539,740
Ensembl chr 1:131,526,977...131,539,738 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729 		JBrowse link
G B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688 		JBrowse link
G B3galt2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:143,516,435...143,525,675
Ensembl chr 1:143,516,402...143,530,352 		JBrowse link
G B4galt3 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,097,898...171,104,468
Ensembl chr 1:171,097,898...171,104,469 		JBrowse link
G B9d1 B9 protein domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757 		JBrowse link
G Bag6 BCL2-associated athanogene 6 disease_progression ISO RGD PMID:28197361 RGD:14390153 NCBI chr17:35,354,132...35,366,297
Ensembl chr17:35,354,154...35,366,298 		JBrowse link
G Batf3 basic leucine zipper transcription factor, ATF-like 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:190,830,611...190,841,140
Ensembl chr 1:190,830,044...190,841,142 		JBrowse link
G BC028528 cDNA sequence BC028528 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317 		JBrowse link
G BC034090 cDNA sequence BC034090 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:155,088,217...155,123,504
Ensembl chr 1:155,088,217...155,120,190 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233 		JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771 		JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,117,368...164,135,056
Ensembl chr 1:164,117,369...164,135,058 		JBrowse link
G Bnipl BCL2/adenovirus E1B 19kD interacting protein like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504 		JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260 		JBrowse link
G Bola1 bolA family member 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,103,899...96,107,724
Ensembl chr 3:96,103,904...96,127,025 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma
ClinVar Annotator: match by term: Gastrointestinal stromal tumor		 ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Brinp2 bone morphogenic protein/retinoic acid inducible neural-specific 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:158,072,835...158,185,096
Ensembl chr 1:158,072,839...158,183,896 		JBrowse link
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210 		JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:183,057,916...183,078,839
Ensembl chr 1:183,057,916...183,078,813 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858 		JBrowse link
G Btnl10 butyrophilin-like 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr11:58,808,703...58,817,791
Ensembl chr11:58,808,734...58,817,984 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415