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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


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Abdominal Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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 chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
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 chrNW_004955445:15,360,074...15,576,410
Ensembl chrNW_004955445:15,360,025...15,560,988
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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 chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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 OMIM NCBI chrNW_004955431:5,797,359...5,890,758 JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma OMIM
ClinVar
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More... NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
JBrowse link
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 OMIM
ClinVar
PMID:25741868 PMID:31092906 PMID:32214227 NCBI chrNW_004955527:474,450...573,869
Ensembl chrNW_004955527:474,403...574,689
JBrowse link
G Tp73 tumor protein p73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004955448:745,419...868,313
Ensembl chrNW_004955448:745,419...868,602
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 OMIM NCBI chrNW_004955506:1,152,790...1,193,826
Ensembl chrNW_004955506:1,152,790...1,193,826
JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
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 chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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 chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chrNW_004955506:2,498,339...2,598,363
Ensembl chrNW_004955506:2,499,770...2,596,989
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 chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369
JBrowse link
Angiomatoid Fibrous Histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb1 cAMP responsive element binding protein 1 ISO OMIM NCBI chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
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 no_association ISO associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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 chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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 chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
JBrowse link
G Gja4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955452:12,902,764...12,905,337
Ensembl chrNW_004955452:12,902,773...12,905,337
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955464:1,107,598...1,110,326 JBrowse link
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO protein:increased expression:vasculature (human)
human cells in mouse model
RGD PMID:27531900 RGD:329955561 NCBI chrNW_004955555:1,493,600...1,509,113
Ensembl chrNW_004955555:1,490,052...1,509,113
JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:8456858 PMID:20147967 PMID:21371307 PMID:24740626 PMID:25157968 More... NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)
CTD
RGD
PMID:17569031 PMID:26440310 RGD:151665099 NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
JBrowse link
G Plcg1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
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 RGD:151361292 RGD:151665099 NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
CTD
RGD
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chrNW_004955403:31,016,423...31,130,892 JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26286747 PMID:26956052 RGD:11343921 RGD:13782052 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266
JBrowse link
astroblastoma, MN1-altered term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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 chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
JBrowse link
G Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Teratoid tumor, atypical ClinVar PMID:25741868 NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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 chrNW_004955469:2,964,968...2,966,998
Ensembl chrNW_004955469:2,965,041...2,965,631
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 histone, family 3A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004955489:269,900...278,398
Ensembl chrNW_004955489:269,900...278,398
JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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 chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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 chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 exacerbates
disease_progression
ISO mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)
RGD PMID:27157136 PMID:28339091 RGD:42722011 RGD:42722013 NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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 chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:25741868 PMID:26822237 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
Bone Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622
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 chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO human, rat, and/or mouse glioma cells in a mouse model RGD PMID:30790292 RGD:150573813 NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502 RGD:13792598 NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
JBrowse link
G Bcl2 BCL2 apoptosis regulator treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502 RGD:13792598 NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
JBrowse link
G Birc3 baculoviral IAP repeat containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chrNW_004955403:24,315,712...24,326,271 JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281
JBrowse link
G Fas Fas cell surface death receptor treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Faslg Fas ligand treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:23510544 RGD:151665742 NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Naip NLR family apoptosis inhibitory protein exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004955575:249,659...283,378 JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO protein:increased expression:brain (human)
human cell in mouse model
RGD PMID:16923162 PMID:33900414 RGD:151660356 RGD:151660368 NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chrNW_004955538:2,499,297...2,511,898
Ensembl chrNW_004955538:2,501,607...2,509,778
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 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
JBrowse link
breast angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdr kinase insert domain receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Ptprb protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b Wnt family member 7B ISO mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas RGD PMID:8168088 RGD:2291878 NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899
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 chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
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 chrNW_004955478:4,182,568...4,236,819
Ensembl chrNW_004955478:4,182,568...4,236,819
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO 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
ClinVar
PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More... NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
Carney-Stratakis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909
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 chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882
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 chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070
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 chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426
JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962
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 chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850
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 chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
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 chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395
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 chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727
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 chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833
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 chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
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 chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047
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 chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130
JBrowse link
G Pou2af1 POU class 2 homeobox 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 chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128
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 chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor OMIM
ClinVar
PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 More... NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor OMIM
ClinVar
PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 More... NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D 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 OMIM
ClinVar
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
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 chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More... NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453
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 chrNW_004955418:29,274,170...29,283,028 JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
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 chrNW_004955418:29,149,595...29,274,067
Ensembl chrNW_004955418:29,150,085...29,274,437
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 chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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 RGD:152985535 NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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 chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3 histone, family 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chrNW_004955506:6,475,336...6,478,781
Ensembl chrNW_004955506:6,474,727...6,482,244
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 chain 3 ISO ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type OMIM
ClinVar
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More... NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
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 chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
CTD
RGD
PMID:23770606 RGD:8657387 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic OMIM
ClinVar
PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 More... NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO RGD PMID:22761648 RGD:10040952 NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chrNW_004955481:10,242,839...10,274,961
Ensembl chrNW_004955481:10,252,393...10,274,860
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 chrNW_004955478:5,686,639...6,090,356
Ensembl chrNW_004955478:5,686,640...6,083,967
JBrowse link
chordoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Chordoma ClinVar PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 More... NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Chordoma ClinVar NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850
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 chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
G Tbxt T-box transcription factor T ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801981 PMID:23064415 NCBI chrNW_004955439:15,675,680...15,683,542
Ensembl chrNW_004955439:15,676,095...15,683,554
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 protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link
G Igf2 insulin like growth factor 2 disease_progression ISO protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Insr insulin receptor disease_progression ISO protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR RGD PMID:17556377 RGD:2290454 NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:30,254,934...30,266,898
Ensembl chrNW_004955404:30,254,841...30,270,921
JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590
JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,086,983...3,090,423
Ensembl chrNW_004955431:3,086,983...3,090,423
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616
JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,923,496...33,946,113
Ensembl chrNW_004955404:33,924,533...33,946,346
JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,781,714...2,899,857
Ensembl chrNW_004955431:2,780,839...2,889,769
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,166,451...5,170,263
Ensembl chrNW_004955431:5,166,451...5,170,263
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,724,988...2,767,539
Ensembl chrNW_004955431:2,725,742...2,767,664
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,416,596...5,429,465
Ensembl chrNW_004955431:5,418,103...5,427,463
JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:30,229,632...30,235,677
Ensembl chrNW_004955404:30,229,632...30,235,679
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,864,017...50,889,249
Ensembl chrNW_004955404:50,863,651...50,889,249
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,473,054...31,487,169
Ensembl chrNW_004955404:31,473,114...31,477,936
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,203,342...2,282,635
Ensembl chrNW_004955431:2,263,698...2,282,635
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:34,739,780...35,118,037
Ensembl chrNW_004955404:34,740,026...35,137,490
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:44,653,308...45,106,943
Ensembl chrNW_004955404:44,653,501...45,105,966
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,897,681...33,924,069
Ensembl chrNW_004955404:33,897,237...33,924,069
JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,205,391...4,220,305
Ensembl chrNW_004955431:4,204,901...4,220,311
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,114,160...3,122,448
Ensembl chrNW_004955431:3,112,134...3,121,780
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,585,518...4,633,567
Ensembl chrNW_004955431:4,585,466...4,636,017
JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:30,215,140...30,229,798
Ensembl chrNW_004955404:30,215,108...30,229,798
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,553,311...2,696,596
Ensembl chrNW_004955431:2,553,892...2,696,744
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,728,011...4,810,236
Ensembl chrNW_004955431:4,728,533...4,809,494
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,928,706...1,935,010
Ensembl chrNW_004955431:1,928,706...1,937,238
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,395,920...3,402,494 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:30,325,019...30,330,953
Ensembl chrNW_004955404:30,325,144...30,326,121
JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:32,715,636...33,127,525
Ensembl chrNW_004955404:32,854,754...33,118,361
JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,642,604...33,665,445
Ensembl chrNW_004955404:33,644,077...33,658,094
JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:36,304,862...36,696,901
Ensembl chrNW_004955404:36,304,326...36,697,236
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,147,679...3,176,577
Ensembl chrNW_004955431:3,147,679...3,212,306
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,197,156...31,388,571
Ensembl chrNW_004955404:31,196,312...31,388,258
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,077,093...2,079,000
Ensembl chrNW_004955431:2,077,269...2,078,300
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,794,863...1,812,641
Ensembl chrNW_004955431:1,794,115...1,812,889
JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,711,418...2,719,062
Ensembl chrNW_004955431:2,710,962...2,713,603
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,932,125...30,186,236
Ensembl chrNW_004955404:29,932,125...30,186,236
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,945,576...33,961,922
Ensembl chrNW_004955404:33,944,833...33,962,729
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:27,981,215...28,051,238
Ensembl chrNW_004955404:27,979,187...28,051,561
JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,382,992...5,412,206
Ensembl chrNW_004955431:5,378,896...5,412,221
JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,312,243...5,378,998
Ensembl chrNW_004955431:5,318,987...5,377,398
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,767,971...1,775,555
Ensembl chrNW_004955431:1,767,525...1,775,555
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:28,759,640...28,803,257
Ensembl chrNW_004955404:28,758,918...28,804,972
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,549,218...50,570,302
Ensembl chrNW_004955404:50,549,151...50,570,305
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:46,795,303...46,886,918
Ensembl chrNW_004955404:46,791,148...46,886,918
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:43,615,300...43,623,119
Ensembl chrNW_004955404:43,611,537...43,623,286
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,403,752...50,413,264 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:38,666,480...39,534,211
Ensembl chrNW_004955404:38,667,015...39,532,423
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,945,119...2,974,767
Ensembl chrNW_004955431:2,951,722...2,974,131
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:33,713,903...33,897,622
Ensembl chrNW_004955404:33,714,193...33,897,622
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:28,812,762...28,818,024 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:28,116,009...28,198,878
Ensembl chrNW_004955404:28,114,576...28,198,856
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,976,283...3,080,665
Ensembl chrNW_004955431:2,976,283...3,080,405
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,122,640...2,170,222
Ensembl chrNW_004955431:2,129,006...2,162,854
JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,619,710...29,727,873
Ensembl chrNW_004955404:29,620,693...29,728,006
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,694,654...4,727,080
Ensembl chrNW_004955431:4,694,654...4,727,080
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:2,899,849...2,943,091
Ensembl chrNW_004955431:2,813,602...2,945,323
JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:29,537,497...29,594,617
Ensembl chrNW_004955404:29,535,923...29,595,141
JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:24,436,394...24,439,749
Ensembl chrNW_004955404:24,437,299...24,439,389
JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:22,738,080...22,744,601
Ensembl chrNW_004955404:22,737,974...22,745,046
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:27,349,286...27,353,706
Ensembl chrNW_004955404:27,349,519...27,353,706
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,303,091...3,330,360
Ensembl chrNW_004955431:3,303,091...3,324,994
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:1,678,720...1,737,234
Ensembl chrNW_004955431:1,676,362...1,737,489
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:50,916,715...50,947,619
Ensembl chrNW_004955404:50,917,177...50,947,522
JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,516,727...31,691,414
Ensembl chrNW_004955404:31,622,102...31,691,517
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:44,329,159...44,457,958
Ensembl chrNW_004955404:44,328,795...44,457,784
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995
JBrowse link
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:3,324,331...3,395,724
Ensembl chrNW_004955431:3,324,331...3,395,724
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955404:31,414,076...31,465,205
Ensembl chrNW_004955404:31,414,208...31,464,968
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:5,443,050...5,466,577
Ensembl chrNW_004955431:5,443,050...5,463,366
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004955431:4,809,405...5,086,647
Ensembl chrNW_004955431:4,912,954...5,060,304
JBrowse link
CIC-rearranged sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989
JBrowse link
G Usf3 upstream transcription factor family member 3 ISO ClinVar Annotator: match by term: CIC-rearranged sarcoma ClinVar NCBI chrNW_004955427:13,766,188...13,811,253
Ensembl chrNW_004955427:13,768,047...13,811,391
JBrowse link
clear cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26098867 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:27476652 NCBI chrNW_004955495:5,286,891...5,302,631
Ensembl chrNW_004955495:5,285,380...5,302,631
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO 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
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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 chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Infantile fibrosarcoma ClinVar PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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 chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220
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 chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chrNW_004955405:25,816,137...25,969,006
Ensembl chrNW_004955405:25,886,447...25,969,395
JBrowse link
dermatofibrosarcoma protuberans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
DNA:gene fusion:exon
RGD PMID:12641779 PMID:22153773 RGD:2292195 RGD:5688300 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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 ISO OMIM:166950 MouseDO NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829
JBrowse link
desmoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More... NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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 chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
desmoplastic small round cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf17 TNF receptor superfamily member 17 ISO ClinVar Annotator: match by term: Desmoplastic small round cell tumor ClinVar PMID:26822237 NCBI chrNW_004955442:6,626,434...6,651,193
Ensembl chrNW_004955442:6,626,399...6,629,931
JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1a actin related protein 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,926,744...7,944,648
Ensembl chrNW_004955485:7,926,744...7,944,648
JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chrNW_004955500:4,998,555...5,177,180
Ensembl chrNW_004955500:4,998,555...5,175,776
JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,739,556...7,772,582
Ensembl chrNW_004955485:7,733,211...7,775,687
JBrowse link
G As3mt arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,576,627...7,599,005
Ensembl chrNW_004955485:7,575,580...7,599,559
JBrowse link
G Atp5mk ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,152,421...7,159,211
Ensembl chrNW_004955485:7,152,426...7,159,211
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,605,277...7,615,924
Ensembl chrNW_004955485:7,605,277...7,615,924
JBrowse link
G Calhm1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,102,059...7,105,396
Ensembl chrNW_004955485:7,102,059...7,105,396
JBrowse link
G Calhm2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,106,926...7,111,745
Ensembl chrNW_004955485:7,106,926...7,113,249
JBrowse link
G Calhm3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,089,268...7,092,968
Ensembl chrNW_004955485:7,089,498...7,092,767
JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,418,063...6,515,730
Ensembl chrNW_004955485:6,451,004...6,515,532
JBrowse link
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,208,412...6,319,367
Ensembl chrNW_004955485:6,213,542...6,319,376
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,399,085...7,546,176
Ensembl chrNW_004955485:7,403,549...7,545,987
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,568,178...6,616,972 JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chrNW_004955484:9,041,226...9,092,924
Ensembl chrNW_004955484:9,042,524...9,064,927
JBrowse link
G Ina internexin neuronal intermediate filament protein alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,238,723...7,266,995 JBrowse link
G Itprip inositol 1,4,5-trisphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,335,670...6,360,757
Ensembl chrNW_004955485:6,336,790...6,359,049
JBrowse link
G LOC102011010 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
JBrowse link
G Mfsd13a major facilitator superfamily domain containing 13A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,945,547...7,957,522
Ensembl chrNW_004955485:7,945,430...7,957,522
JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,015,969...7,046,089 JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
JBrowse link
G Pcgf6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,196,626...7,228,918
Ensembl chrNW_004955485:7,196,626...7,227,536
JBrowse link
G Pdcd11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,110,704...7,152,301
Ensembl chrNW_004955485:7,112,457...7,150,731
JBrowse link
G Sfr1 SWI5 dependent homologous recombination repair protein 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,520,747...6,525,359
Ensembl chrNW_004955485:6,521,292...6,524,524
JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,716,916...7,732,122
Ensembl chrNW_004955485:7,718,039...7,732,121
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,811,857...7,008,011
Ensembl chrNW_004955485:6,811,844...7,009,432
JBrowse link
G Slk STE20 like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,617,698...6,685,220
Ensembl chrNW_004955485:6,617,698...6,685,220
JBrowse link
G Sorcs3 sortilin related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:5,474,081...6,048,912
Ensembl chrNW_004955485:5,475,942...5,884,106
JBrowse link
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
JBrowse link
G Taf5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,159,199...7,176,269
Ensembl chrNW_004955485:7,160,022...7,175,608
JBrowse link
G Trim8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,784,625...7,798,131
Ensembl chrNW_004955485:7,782,794...7,797,022
JBrowse link
G Wbp1l WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chrNW_004955485:7,655,921...7,710,387
Ensembl chrNW_004955485:7,655,221...7,710,402
JBrowse link
diaphyseal medullary stenosis with malignant fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtap methylthioadenosine phosphorylase ISO ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY OMIM
ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More... NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
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 chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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 DNA 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 chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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 ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
JBrowse link
G Brca2 BRCA2 DNA repair associated 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 chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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 chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
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 chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
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 chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088
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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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 chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
G Pms2 PMS1 homolog 2, 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 chrNW_004955460:13,762,854...13,791,462 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 chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
JBrowse link
G Tp53 tumor protein p53 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 chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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 chrNW_004955458:5,455,012...5,457,912
Ensembl chrNW_004955458:5,455,012...5,457,904
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chrNW_004955494:2,567,238...2,712,708 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 chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
JBrowse link
G Bcor BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012
JBrowse link
G Dmd dystrophin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
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 chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
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 chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408
JBrowse link
Embryonal Rhabdomyosarcoma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc22a18 solute carrier family 22 member 18 ISO OMIM NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
JBrowse link
Embryonal Rhabdomyosarcoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 OMIM
ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 More... NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797
JBrowse link
endodermal sinus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors RGD PMID:16822086 RGD:2298800 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO protein:increased expression:testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
JBrowse link
G Sall4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
JBrowse link
G Wnt2b Wnt family member 2B ISO mRNA:increased expression:tumor RGD PMID:16822086 RGD:2298800 NCBI chrNW_004955435:15,948,262...15,962,958
Ensembl chrNW_004955435:15,948,262...15,962,958
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 protein:increased expression:tumor:increased in 6/8 (75%) of tumors RGD PMID:17367465 RGD:2292170 NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c BAF chromatin remodeling complex subunit BCL7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chrNW_004955493:7,728,229...7,733,086
Ensembl chrNW_004955493:7,693,084...7,733,086
JBrowse link
G Ephb2 EPH receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
JBrowse link
G Igf2 insulin like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chrNW_004955524:3,220,108...3,224,376
Ensembl chrNW_004955524:3,221,366...3,224,376
JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chrNW_004955415:31,895,446...31,899,927
Ensembl chrNW_004955415:31,895,507...31,899,303
JBrowse link
G Shc3 SHC adaptor protein 3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chrNW_004955515:2,858,971...3,016,467
Ensembl chrNW_004955515:2,860,230...3,016,467
JBrowse link
G Znf668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chrNW_004955493:7,902,527...7,911,616
Ensembl chrNW_004955493:7,902,527...7,905,135
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 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chrNW_004955490:7,409,687...7,764,300
Ensembl chrNW_004955490:7,409,160...7,762,929
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 chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
JBrowse link
Ewing sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645
JBrowse link
G Cd99 CD99 molecule (Xg blood group) ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868 NCBI chrNW_004955499:1,607,382...1,646,172 JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More... NCBI chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980
JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chrNW_004955425:16,055,748...16,068,429
Ensembl chrNW_004955425:16,055,748...16,060,048
JBrowse link
G Ewsr1 EWS RNA binding protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chrNW_004955455:3,571,025...3,599,975
Ensembl chrNW_004955455:3,571,025...3,601,975
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11772151 PMID:16646077 PMID:26214589 NCBI chrNW_004955412:29,653,621...29,773,412
Ensembl chrNW_004955412:29,654,459...29,775,903
JBrowse link
G Kdm3a lysine demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chrNW_004955424:1,164,384...1,218,607
Ensembl chrNW_004955424:1,171,827...1,218,607
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 chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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 chrNW_004955458:5,455,012...5,457,912
Ensembl chrNW_004955458:5,455,012...5,457,904
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 chrNW_004955403:19,253,784...19,381,883
Ensembl chrNW_004955403:19,257,501...19,381,901
JBrowse link
G Alb albumin ISO mRNA,protein:decreased expression:liver,serum: RGD PMID:1900492 RGD:11035284 NCBI chrNW_004955447:9,327...21,212 JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:9743294 NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Ifng interferon gamma treatment ISO RGD PMID:2119881 RGD:10755752 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO A to T transversion; Gln to His substitution RGD PMID:11295286 RGD:1598680 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO DNA:transversion:exon p.Q61L (human) RGD PMID:11295286 RGD:1598680 NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO mRNA, protein:increased expression:brush border epithelial cell RGD PMID:17006743 RGD:1625275 NCBI chrNW_004955534:3,463,057...3,488,577 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 chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
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 OMIM NCBI chrNW_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO ClinVar Annotator: match by term: TAF15-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chrNW_004955481:10,242,839...10,274,961
Ensembl chrNW_004955481:10,252,393...10,274,860
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 type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Familial atrial myxoma OMIM
ClinVar
PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532 NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087
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 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
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 chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706
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 ClinVar Annotator: match by term: Hereditary retinoblastoma ClinVar PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
JBrowse link
Fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038752 PMID:26437033 NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
JBrowse link
G Rara retinoic acid receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chrNW_004955451:14,876,663...14,917,134
Ensembl chrNW_004955451:14,897,726...14,917,134
JBrowse link
G Wnt2 Wnt family member 2 ISO mRNA:increased expression:breast RGD PMID:8168088 RGD:2291878 NCBI chrNW_004955432:22,988,208...23,024,530
Ensembl chrNW_004955432:22,984,170...23,027,705
JBrowse link
G Wnt4 Wnt family member 4 ISO breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) RGD PMID:8168088 RGD:2291878 NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12973667 PMID:14508707 RGD:1599125 NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622
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 chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chrNW_004955462:13,578,638...13,644,834
Ensembl chrNW_004955462:13,584,724...13,642,968
JBrowse link
G Egr1 early growth response 1 ISO human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO RGD PMID:11238917 RGD:11567233 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
JBrowse link
G Serpine1 serpin family E member 1 severity ISO RGD PMID:11059781 RGD:8547752 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chrNW_004955463:4,900,115...4,993,793
Ensembl chrNW_004955463:4,900,060...4,993,793
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chrNW_004955477:3,650,874...3,658,059
Ensembl chrNW_004955477:3,650,874...3,658,059
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 chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
gastrointestinal stromal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004955447:14,623,532...14,648,121
Ensembl chrNW_004955447:14,622,728...14,648,005
JBrowse link
G Abcb10 ATP binding cassette subfamily B member 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:8,532,240...8,573,211
Ensembl chrNW_004955492:8,532,240...8,577,041
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 chrNW_004955406:18,435,984...18,527,967
Ensembl chrNW_004955406:18,437,672...18,527,698
JBrowse link
G Acbd3 acyl-CoA binding domain containing 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955489:337,578...381,557
Ensembl chrNW_004955489:339,561...381,496
JBrowse link
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:19,481,640...19,658,807
Ensembl chrNW_004955406:19,481,640...19,658,806
JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:10,994,372...10,997,434
Ensembl chrNW_004955468:10,995,941...11,001,094
JBrowse link
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955568:744,453...764,402
Ensembl chrNW_004955568:744,836...764,331
JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190
JBrowse link
G Adam15 ADAM metallopeptidase domain 15 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:1,545,532...1,555,826
Ensembl chrNW_004955545:1,545,635...1,555,614
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 chrNW_004955468:12,950,333...12,958,599
Ensembl chrNW_004955468:12,951,155...12,958,212
JBrowse link
G Adamtsl4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325
JBrowse link
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
JBrowse link
G Adcy10 adenylate cyclase 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352
JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688
JBrowse link
G Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
JBrowse link
G Agt angiotensinogen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Ahctf1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:9,687,237...9,754,426
Ensembl chrNW_004955406:9,688,749...9,744,998
JBrowse link
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955520:1,819,617...1,851,273
Ensembl chrNW_004955520:1,819,706...1,851,273
JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:6,907,876...7,163,672 JBrowse link
G Aldh9a1 aldehyde dehydrogenase 9 family member A1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:10,998,147...11,017,360 JBrowse link
G Angel2 angel homolog 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:4,589,849...4,606,380
Ensembl chrNW_004955406:4,589,849...4,606,380
JBrowse link
G Angptl1 angiopoietin like 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:18,160,164...18,224,822
Ensembl chrNW_004955406:18,203,310...18,224,789
JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955568:130,062...134,841
Ensembl chrNW_004955568:131,259...134,841
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955568:204,422...222,065
Ensembl chrNW_004955568:204,482...222,258
JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:13,842,571...13,882,625
Ensembl chrNW_004955406:13,846,452...13,872,411
JBrowse link
G Anp32e acidic nuclear phosphoprotein 32 family member E ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955413:531,716...550,480
Ensembl chrNW_004955413:531,970...548,294
JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955588:352,175...374,723
Ensembl chrNW_004955588:352,176...370,418
JBrowse link
G Apc APC regulator of WNT signaling pathway 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 chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:11,388,154...11,389,259
Ensembl chrNW_004955468:11,388,192...11,390,314
JBrowse link
G Aph1a aph-1 homolog A, gamma-secretase subunit ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955413:506,297...509,787
Ensembl chrNW_004955413:506,297...509,787
JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
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 chrNW_004955406:22,425,097...22,431,148 JBrowse link
G Aqp10 aquaporin 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:845,749...848,738
Ensembl chrNW_004955545:845,749...848,738
JBrowse link
G Arf1 ARF GTPase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955581:319,942...335,112
Ensembl chrNW_004955581:319,942...335,112
JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:12,822,489...12,840,705
Ensembl chrNW_004955468:12,823,254...12,840,405
JBrowse link
G Arhgef11 Rho guanine nucleotide exchange factor 11 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:2,988,676...3,099,159
Ensembl chrNW_004955545:2,989,774...3,097,003
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:2,149,107...2,192,986
Ensembl chrNW_004955545:2,149,107...2,197,153
JBrowse link
G Arid4b AT-rich interaction domain 4B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:4,593,335...4,730,073
Ensembl chrNW_004955492:4,593,335...4,730,073
JBrowse link
G Arl8a ARF like GTPase 8A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:38,223,115...38,226,563
Ensembl chrNW_004955406:38,224,124...38,226,542
JBrowse link
G Arl9 ARF like GTPase 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 NCBI chrNW_004955447:14,500,696...14,515,286 JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955588:159,462...233,047
Ensembl chrNW_004955588:159,462...233,047
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 chrNW_004955406:22,409,239...22,418,950
Ensembl chrNW_004955406:22,409,239...22,418,945
JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:7,669,956...7,683,293
Ensembl chrNW_004955492:7,672,746...7,683,728
JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:37,264,753...37,265,337 JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:1,778,905...1,950,656
Ensembl chrNW_004955545:1,778,905...1,923,104
JBrowse link
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:33,665,675...33,720,468
Ensembl chrNW_004955406:33,661,322...33,720,259
JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:16,445,738...16,742,185
Ensembl chrNW_004955406:16,445,495...16,742,295
JBrowse link
G Atf3 activating transcription factor 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:4,875,672...4,889,173
Ensembl chrNW_004955406:4,875,613...4,889,242
JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543
JBrowse link
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880
JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:39,552,034...39,645,694
Ensembl chrNW_004955406:39,552,019...39,645,694
JBrowse link
G Atp6v1g3 ATPase H+ transporting V1 subunit G3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:34,910,498...34,927,745
Ensembl chrNW_004955406:34,910,498...34,927,745
JBrowse link
G Atp8b2 ATPase phospholipid transporting 8B2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:850,522...872,650
Ensembl chrNW_004955545:852,201...872,789
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:41,706,088...41,716,173
Ensembl chrNW_004955406:41,705,305...41,716,173
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905
JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531
JBrowse link
G B3galt2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
JBrowse link
G B4galt3 beta-1,4-galactosyltransferase 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:12,934,521...12,945,435
Ensembl chrNW_004955468:12,932,059...12,940,723
JBrowse link
G B9d1 B9 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116
JBrowse link
G Bag6 BAG cochaperone 6 disease_progression ISO RGD PMID:28197361 RGD:14390153 NCBI chrNW_004955437:176,848...188,243
Ensembl chrNW_004955437:176,797...188,003
JBrowse link
G Batf3 basic leucine zipper ATF-like transcription factor 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955815:2,852...11,035
Ensembl chrNW_004955815:2,846...11,035
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:2,723,780...2,739,334
Ensembl chrNW_004955545:2,723,780...2,739,450
JBrowse link
G Bcl9 BCL9 transcription coactivator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955568:785,361...866,986
Ensembl chrNW_004955568:783,692...811,600
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978
JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:7,856,650...7,879,659
Ensembl chrNW_004955462:7,855,075...7,879,186
JBrowse link
G Bnipl BCL2 interacting protein like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955588:409,509...417,825
Ensembl chrNW_004955588:409,511...417,825
JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chrNW_004955427:13,424,478...13,492,527
Ensembl chrNW_004955427:13,424,478...13,493,952
JBrowse link
G Bola1 bolA family member 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955413:850,781...851,887
Ensembl chrNW_004955413:850,781...851,887
JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955520:3,521,096...3,543,255
Ensembl chrNW_004955520:3,524,684...3,544,666
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase 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 chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Brinp2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:16,748,824...16,840,924
Ensembl chrNW_004955406:16,748,824...16,844,093
JBrowse link
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:27,870,115...28,240,328
Ensembl chrNW_004955406:27,869,456...28,238,978
JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955520:1,797,657...1,819,359
Ensembl chrNW_004955520:1,797,657...1,818,708
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778
JBrowse link
G Btnl10 Butyrophilin-like protein 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955581:62,183...69,040 JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chrNW_004955414:17,444,299...17,557,912
Ensembl chrNW_004955414:17,444,515...17,558,245
JBrowse link
G C2cd4d C2 calcium dependent domain containing 4D ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955589:582,261...583,519 JBrowse link
G C4bpa complement component 4 binding protein alpha ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:42,613,659...42,641,918
Ensembl chrNW_004955406:42,613,607...42,641,670
JBrowse link
G C4bpb complement component 4 binding protein beta ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:42,601,164...42,608,912 JBrowse link
G Ca14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955413:510,089...516,892
Ensembl chrNW_004955413:510,089...516,892
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:20,356,564...20,824,679
Ensembl chrNW_004955406:20,510,954...20,816,678
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371
JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:14,823,509...14,840,127 JBrowse link
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:10,963,773...10,994,266
Ensembl chrNW_004955468:10,963,724...10,994,266
JBrowse link
G Camk1g calcium/calmodulin dependent protein kinase IG ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955489:2,604,030...2,629,394
Ensembl chrNW_004955489:2,604,030...2,629,436
JBrowse link
G Camsap2 calmodulin regulated spectrin associated protein family member 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:36,958,337...37,055,748
Ensembl chrNW_004955406:36,957,523...37,055,748
JBrowse link
G Capn2 calpain 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955520:1,287,829...1,315,318
Ensembl chrNW_004955520:1,286,356...1,315,328
JBrowse link
G Capn8 calpain 8 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955520:1,340,038...1,379,765 JBrowse link
G Capn9 calpain 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:7,809,188...7,845,090
Ensembl chrNW_004955492:7,809,188...7,845,090
JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:11,967,678...11,978,836
Ensembl chrNW_004955468:11,967,678...11,978,836
JBrowse link
G Catspere catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:7,716,831...7,861,390
Ensembl chrNW_004955406:7,716,825...7,844,687
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:7,820,176...7,838,931
Ensembl chrNW_004955462:7,821,226...7,838,892
JBrowse link
G Ccdc190 coiled-coil domain containing 190 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:13,524,706...13,532,251
Ensembl chrNW_004955462:13,524,947...13,533,123
JBrowse link
G Ccsap centriole, cilia and spindle associated protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955492:8,685,667...8,700,306 JBrowse link
G Cct3 chaperonin containing TCP1 subunit 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955545:2,444,988...2,460,976
Ensembl chrNW_004955545:2,444,988...2,461,113
JBrowse link
G Cd160 CD160 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955568:365,700...372,149 JBrowse link
G Cd244 CD244 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:12,532,937...12,559,859
Ensembl chrNW_004955468:12,534,064...12,559,434
JBrowse link
G Cd247 CD247 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955462:9,466,706...9,539,897
Ensembl chrNW_004955462:9,469,255...9,538,882
JBrowse link
G Cd34 CD34 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:43,116,688...43,130,405
Ensembl chrNW_004955406:43,117,816...43,130,463
JBrowse link
G Cd3e CD3e molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:43,002,817...43,034,555 JBrowse link
G Cd48 CD48 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:12,398,671...12,411,241
Ensembl chrNW_004955468:12,396,032...12,410,086
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:42,773,368...42,796,205 JBrowse link
G Cd5l CD5 molecule like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:9,670,958...9,690,331
Ensembl chrNW_004955468:9,667,514...9,689,150
JBrowse link
G Cd84 CD84 molecule ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955468:12,280,467...12,313,976
Ensembl chrNW_004955468:12,281,686...12,313,912
JBrowse link
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:9,906,195...10,178,281
Ensembl chrNW_004955406:9,906,195...10,174,465
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955588:423,091...440,248
Ensembl chrNW_004955588:423,091...429,917
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
JBrowse link
G Cdk18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:41,228,802...41,256,413
Ensembl chrNW_004955406:41,228,678...41,252,543
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chrNW_004955412:27,004,391...27,093,968
Ensembl chrNW_004955412:27,003,919...27,065,989
JBrowse link
G Celf3 CUGBP Elav-like family member 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955589:700,965...715,684
Ensembl chrNW_004955589:701,767...713,179
JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:3,225,788...3,273,037
Ensembl chrNW_004955406:3,223,993...3,273,714
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chrNW_004955406:13,949,697...13,963,827
Ensembl chrNW_004955406:13,949,697...13,963,827
JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 NCBI chrNW_004955447:14,934,334...15,004,077
Ensembl chrNW_004955447:14,934,269...15,004,302
JBrowse link
G Cep170 centrosomal protein 170