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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
 alt_id: RDO:0006196
For additional species annotation, visit the Alliance of Genome Resources.


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Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mki67 antigen identified by monoclonal antibody Ki 67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr 7:135,689,784...135,716,450
Ensembl chr 7:135,689,784...135,716,361
JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma ClinVar NCBI chr 2:160,946,978...161,109,086
Ensembl chr 2:160,946,978...161,109,075
JBrowse link
Aggressive Fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:11816139 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Ccn2 cellular communication network factor 2 ISO mRNA:increased expression:tumor (human) RGD PMID:19366727 RGD:2314525 NCBI chr10:24,595,442...24,598,683
Ensembl chr10:24,595,442...24,598,683
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:17160433 RGD:13208596 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:19944662 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
alveolar rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma ClinVar PMID:11257105 PMID:16454848 PMID:18199528 PMID:21859464 PMID:24033266 PMID:25637381 PMID:25741868 PMID:26580448 PMID:27535533 PMID:28492532 PMID:28503720 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Foxo1 forkhead box O1 ISO OMIM NCBI chr 3:52,268,337...52,350,109
Ensembl chr 3:52,268,336...52,353,221
JBrowse link
G Pax3 paired box 3 ISO
IEA
DNA:translocations: (human)
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma
OMIM:268220
ClinVar
MouseDO
OMIM
PMID:24033266 PMID:25741868, PMID:15313887 RGD:1580944 NCBI chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
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 chr 4:139,737,059...139,833,530
Ensembl chr 4:139,737,062...139,833,528
JBrowse link
G Trp73 transformation related protein 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21245298 NCBI chr 4:154,056,249...154,139,875
Ensembl chr 4:154,056,253...154,140,208
Ensembl chr 4:154,056,253...154,140,208
JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 3:57,455,644...57,575,910
Ensembl chr 3:57,455,649...57,575,910
JBrowse link
alveolar soft part sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 alveolar soft part sarcoma chromosome region, candidate 1 (human) ISO OMIM NCBI chr11:120,672,973...120,709,447
Ensembl chr11:120,672,973...120,709,447
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 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22672556 PMID:23161690 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:25157968 PMID:25584008 PMID:25619955 PMID:25741868 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27621308 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30816478 PMID:32000721 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
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:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 NCBI chr 7:122,107,262...122,132,980
Ensembl chr 7:122,107,262...122,132,985
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr11:119,389,950...119,487,418
Ensembl chr11:119,393,100...119,487,418
JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
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: Oligodendroglioma, anaplastic ClinVar NCBI chr 7:25,267,658...25,294,159
Ensembl chr 7:25,267,704...25,294,159
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 chr 1:64,532,794...64,604,548
Ensembl chr 1:64,532,645...64,604,548
JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA-glycosylase 1 no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:19265534, PMID:17932460, PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 1:52,119,438...52,161,865
Ensembl chr 1:52,119,440...52,161,865
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr10:77,052,178...77,166,530
Ensembl chr10:77,052,178...77,166,548
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:127,311,420...127,314,039
Ensembl chr 4:127,311,421...127,314,039
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Jun jun proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Kdr kinase insert domain protein receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiosarcoma
CTD
ClinVar
PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008 PMID:24740626 PMID:25157968 PMID:25808193 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 2:160,731,310...160,775,760
Ensembl chr 2:160,731,300...160,775,760
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr10:116,275,502...116,389,538
Ensembl chr10:116,275,523...116,389,535
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:54,077,532...54,186,454
Ensembl chr 8:54,077,606...54,187,096
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:53,049,403...53,049,487
Ensembl chr  X:53,049,403...53,049,487
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052, PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
Atrial Myxoma, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by OMIM:255960 OMIM
ClinVar
PMID:1263542 PMID:10973256 NCBI chr11:109,649,023...109,669,663
Ensembl chr11:109,649,405...109,669,656
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
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 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Derl3 Der1-like domain family, member 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr10:75,893,398...75,895,941
Ensembl chr10:75,893,413...75,895,941
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO
IEA
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
OMIM:609322
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609322
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19912265 PMID:21108436 PMID:21208904 PMID:23510391 PMID:24123847 PMID:24525513 PMID:24728327 PMID:24933152 PMID:25741868 PMID:28492532 PMID:28873162 NCBI chr10:75,896,769...75,921,614
Ensembl chr10:75,896,769...75,921,617
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21761402 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:27621308 PMID:28492532 PMID:30816478 PMID:32000721 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
bone giant cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr 1:180,802,560...180,813,605
Ensembl chr 1:180,800,832...180,813,943
JBrowse link
bone osteosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14612911 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15810020 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16835864 PMID:16880452 PMID:16914568 PMID:16982735 PMID:17085682 PMID:17721994 PMID:18085035 PMID:18172190 PMID:18571837 PMID:18706089 PMID:19030985 PMID:19338683 PMID:19782031 PMID:19805189 PMID:21059199 PMID:21244692 PMID:21744992 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23296741 PMID:23329222 PMID:23334666 PMID:23415889 PMID:23469205 PMID:23960188 PMID:24033266 PMID:24390236 PMID:24506336 PMID:24713400 PMID:24723567 PMID:24728327 PMID:24884479 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26270727 PMID:26332814 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26580448 PMID:26641009 PMID:26681312 PMID:26787654 PMID:26822237 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27443514 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27751358 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28166811 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28981386 PMID:29146883 PMID:29335925 PMID:29351919 PMID:29484706 PMID:29489754 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29958926 PMID:29961768 PMID:29987844 PMID:30067863 PMID:30152102 PMID:30287823 PMID:30303537 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30676620 PMID:30851065 PMID:31050813 PMID:31159747 PMID:31214250 PMID:31220302 PMID:31300551 PMID:31360903 PMID:31415627 PMID:31422574 PMID:31512090 PMID:31811167 PMID:31843900 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32566746 PMID:33134171 PMID:33558524 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 exacerbates
disease_progression
ISO mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)
RGD PMID:28339091, PMID:27157136 RGD:42722011, RGD:42722013 NCBI chr19:5,473,946...5,482,520
Ensembl chr19:5,473,954...5,482,517
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Bone osteosarcoma ClinVar PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8633021 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30720243 PMID:30816478 PMID:31775759 PMID:32000721 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
Bone Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate receptor, metabotropic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 7:101,475,376...101,475,443
Ensembl chr 7:101,475,376...101,475,443
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:49,502,129...49,799,393
Ensembl chr 9:49,502,136...49,798,925
JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3 a disintegrin and metallopeptidase domain 3 (cyritestin) ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr 8:24,677,232...24,726,377
Ensembl chr 8:24,677,225...24,725,852
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:27255231, PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:27255231, PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 IEP mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr 8:71,534,255...71,537,472
Ensembl chr 8:71,534,255...71,537,456
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Fadd Fas (TNFRSF6)-associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr 7:144,578,323...144,582,441
Ensembl chr 7:144,577,318...144,582,463
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chr 6:125,161,852...125,166,467
Ensembl chr 6:125,161,715...125,166,467
JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 IEP mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b wingless-type MMTV integration site family, member 7B ISO RGD PMID:8168088 RGD:2291878 NCBI chr15:85,535,437...85,581,821
Ensembl chr15:85,535,437...85,582,473
JBrowse link
carcinosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15132766 NCBI chr 2:13,574,311...13,582,826
Ensembl chr 2:13,573,927...13,582,826
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:22464252 PMID:23043190 PMID:23425300 PMID:24170103 PMID:25741868 PMID:28492532 NCBI chr11:109,669,746...109,723,163
Ensembl chr11:109,669,749...109,722,279
JBrowse link
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISS OMIM:160980 | OMIM:605244 | OMIM:608837 MouseDO NCBI chr11:67,277,124...67,308,634
Ensembl chr11:67,277,124...67,308,634
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO
IEA
ClinVar Annotator: match by term: Carney complex, type 1
OMIM:160980 | OMIM:605244 | OMIM:608837
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:160980
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12424709 PMID:12950501 PMID:15371594 PMID:15992699 PMID:16569736 PMID:17396442 PMID:17576681 PMID:18056771 PMID:18223213 PMID:18241045 PMID:19265501 PMID:19293268 PMID:20358582 PMID:20924687 PMID:21047926 PMID:21850686 PMID:21900385 PMID:22112814 PMID:22259056 PMID:22341669 PMID:22464252 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:24033266 PMID:24170103 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26822237 PMID:27825928 PMID:27930734 PMID:28051113 PMID:28166811 PMID:28255981 PMID:28492532 PMID:28640241 PMID:29264456 NCBI chr11:109,649,023...109,669,663
Ensembl chr11:109,649,405...109,669,656
JBrowse link
Carney Complex Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh8 myosin, heavy polypeptide 8, skeletal muscle, perinatal ISO ClinVar Annotator: match by term: Carney complex variant OMIM
ClinVar
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:20949528 PMID:25741868 NCBI chr11:67,277,124...67,308,634
Ensembl chr11:67,277,124...67,308,634
JBrowse link
G Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Carney complex variant ClinVar PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:20949528 PMID:25741868 NCBI chr11:67,224,196...67,237,281
Ensembl chr11:67,211,256...67,237,573
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 NCBI chr13:74,322,255...74,350,240
Ensembl chr13:74,322,254...74,350,280
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 NCBI chr 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
Carney-Stratakis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1110032A03Rik RIKEN cDNA 1110032A03 gene ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,761,374...50,768,236
Ensembl chr 9:50,762,828...50,775,520
JBrowse link
G 2310030G06Rik RIKEN cDNA 2310030G06 gene ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,739,691...50,746,527
Ensembl chr 9:50,739,691...50,746,536
JBrowse link
G Alg9 asparagine-linked glycosylation 9 (alpha 1,2 mannosyltransferase) ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,775,225...50,843,639
Ensembl chr 9:50,775,019...50,843,542
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,102,147...51,119,924
Ensembl chr 9:51,060,901...51,119,875
JBrowse link
G Colca2 COLCA2 homolog ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,270,258...51,278,565
Ensembl chr 9:51,270,258...51,278,569
Ensembl chr 9:51,270,258...51,278,569
JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,745,951...50,756,636
Ensembl chr 9:50,751,325...50,756,636
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,662,752...50,739,602
Ensembl chr 9:50,662,752...50,739,517
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,634,633...50,659,780
Ensembl chr 9:50,634,633...50,659,780
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,768,238...50,772,670
Ensembl chr 9:50,768,236...50,773,348
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,081,310...51,105,834
Ensembl chr 9:51,081,115...51,102,078
JBrowse link
G Hspb2 heat shock protein 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,751,072...50,752,354
Ensembl chr 9:50,751,078...50,752,354
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,055,023...51,077,209
Ensembl chr 9:51,054,640...51,077,094
JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,103,562...51,103,645
Ensembl chr 9:51,103,562...51,103,645
JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,103,034...51,103,110
Ensembl chr 9:51,103,034...51,103,110
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,605,240...50,617,464
Ensembl chr 9:50,605,240...50,617,464
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,617,321...50,625,000
Ensembl chr 9:50,617,321...50,625,000
JBrowse link
G Pou2af1 POU domain, class 2, associating factor 1 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:51,213,690...51,240,079
Ensembl chr 9:51,213,708...51,240,080
JBrowse link
G Ppp2r1b protein phosphatase 2, regulatory subunit A, beta ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,856,896...50,899,325
Ensembl chr 9:50,845,301...50,894,229
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
ClinVar Annotator: match by OMIM:606864
OMIM
ClinVar
PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12205103 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14643060 PMID:14715873 PMID:14985401 PMID:15328326 PMID:15383933 PMID:15476441 PMID:15883710 PMID:16001332 PMID:16199547 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17200167 PMID:17298551 PMID:17376234 PMID:17576681 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18551016 PMID:18678321 PMID:18840642 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19399650 PMID:19411806 PMID:19454582 PMID:19694205 PMID:19802898 PMID:19825962 PMID:20208144 PMID:20418362 PMID:20459544 PMID:20540712 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21348866 PMID:21565294 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22703879 PMID:22835832 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23660872 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24466223 PMID:24509376 PMID:24659481 PMID:24728327 PMID:24939699 PMID:25047027 PMID:25326637 PMID:25333069 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25972245 PMID:26092435 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26467025 PMID:26556299 PMID:26719882 PMID:27171833 PMID:27539324 PMID:27573198 PMID:27604842 PMID:28324028 PMID:28374168 PMID:28492532 PMID:28503760 PMID:29386252 PMID:29909963 PMID:29951630 PMID:30050099 PMID:30152102 PMID:31492822 PMID:163114641 NCBI chr 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome OMIM
ClinVar
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19454582 PMID:21173220 PMID:23083876 PMID:23282968 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24758179 PMID:25024072 PMID:25741868 PMID:26173966 PMID:26467025 PMID:26492543 PMID:27700540 PMID:28492532 PMID:28819017 NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma
OMIM
ClinVar
PMID:1945482 PMID:9536098 PMID:9683583 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12386824 PMID:12509798 PMID:12612654 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:14985401 PMID:15032977 PMID:15066320 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15989954 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17102085 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18414213 PMID:18551016 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20098451 PMID:20111059 PMID:20418362 PMID:20842377 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22566194 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23282968 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27785149 PMID:27986441 PMID:28128698 PMID:28164237 PMID:28492532 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29875428 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30877234 PMID:31492822 PMID:31666924 PMID:32035780 NCBI chr 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:28492532 NCBI chr 9:50,889,644...51,009,132
Ensembl chr 9:50,892,801...51,009,073
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8B ISO ClinVar Annotator: match by term: Carney-Stratakis syndrome ClinVar PMID:15531530 PMID:19454582 PMID:19802898 PMID:28492532 NCBI chr 9:50,603,901...50,605,320
Ensembl chr 9:50,603,910...50,605,320
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 NCBI chr13:92,354,783...92,389,053
Ensembl chr13:92,354,726...92,389,053
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr13:92,211,878...92,355,004
Ensembl chr13:92,211,872...92,355,003
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr17:87,975,050...87,990,892
Ensembl chr17:87,975,062...87,990,892
JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen-activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr11:116,021,961...116,026,039
Ensembl chr11:116,021,912...116,027,962
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110 PMID:9268097 PMID:9649554 PMID:10523019 PMID:17164305 PMID:18559376 PMID:25741868 PMID:28492532 NCBI chr 9:110,722,085...110,747,145
Ensembl chr 9:110,722,085...110,747,145
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Ihh Indian hedgehog IEP RGD PMID:26091072 RGD:12910968 NCBI chr 1:74,945,315...74,951,672
Ensembl chr 1:74,945,315...74,951,672
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:26091072 RGD:12910968 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
chondrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chil1 chitinase-like 1 ISO mRNA:increased expression:tumor (human) RGD PMID:12598313 RGD:4892624 NCBI chr 1:134,182,156...134,190,031
Ensembl chr 1:134,182,176...134,190,181
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:23770606, PMID:23770606 RGD:8657387 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Ext1 exostosin glycosyltransferase 1 ISO ClinVar Annotator: match by term: Chondrosarcoma
mRNA:decreased expression:epiphyseal plate (human)
ClinVar Annotator: match by OMIM:215300
OMIM
ClinVar
PMID:8981950 PMID:25741868, PMID:17226760 RGD:13208235 NCBI chr15:53,068,261...53,346,183
Ensembl chr15:53,064,038...53,346,159
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO protein:increased expression:growth plate RGD PMID:17907424 RGD:11568634 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO RGD PMID:22761648 RGD:10040952 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO extraskeletal myxoid chondrosarcomas (EMC) RGD PMID:10602519 RGD:1599281 NCBI chr11:83,473,073...83,506,743
Ensembl chr11:83,473,086...83,506,743
JBrowse link
chordoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: Chordoma ClinVar NCBI chr 5:111,417,300...111,457,030
Ensembl chr 5:111,417,362...111,457,033
JBrowse link
G T brachyury, T-box transcription factor T ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801981 PMID:23064415 NCBI chr17:8,434,423...8,442,496
Ensembl chr17:8,434,423...8,442,496
JBrowse link
choriocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Insr insulin receptor disease_progression ISO RGD PMID:17556377 RGD:2290454 NCBI chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO mRNA:increased expression:mononuclear cytotrophoblast cell RGD PMID:8504434 RGD:2292200 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO DNA, protein:hypermethylation, decreased expression:promoter, placenta RGD PMID:15507671 RGD:2290418 NCBI chr10:86,300,412...86,349,505
Ensembl chr10:86,300,372...86,349,506
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,096,110...89,110,039
Ensembl chr 6:88,950,683...89,110,031
JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,047,012...103,056,573
Ensembl chr14:103,046,977...103,056,573
JBrowse link
G Alg11 asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,060,721...22,071,627
Ensembl chr 8:22,060,721...22,071,627
JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,306,290...61,311,937
Ensembl chr14:61,309,753...61,311,936
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:21,992,783...22,060,074
Ensembl chr 8:21,992,785...22,060,305
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,046,377...99,074,540
Ensembl chr14:99,046,222...99,074,540
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,440,934...59,548,904
Ensembl chr14:59,440,972...59,585,764
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:21,969,775...21,974,055
Ensembl chr 8:21,969,775...21,974,041
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,559,386...59,597,985
Ensembl chr14:59,559,388...59,597,959
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,168,149...22,185,819
Ensembl chr 8:22,168,160...22,185,819
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,070,216...103,077,630
Ensembl chr14:103,070,216...103,077,628
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,637,682...79,662,194
Ensembl chr14:79,637,690...79,662,170
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,633,766...101,640,471
Ensembl chr14:101,632,981...101,640,686
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,025,672...73,049,114
Ensembl chr14:73,025,603...73,049,114
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:97,786,846...98,169,765
Ensembl chr14:97,786,853...98,169,765
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,655,357...87,141,247
Ensembl chr14:86,655,367...87,141,235
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,076,634...99,099,780
Ensembl chr14:99,075,206...99,099,770
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,276,229...62,292,979
Ensembl chr14:62,276,231...62,293,047
JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,339,763...61,360,445
Ensembl chr14:61,331,742...61,360,439
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,555,737...62,608,486
Ensembl chr14:62,555,737...62,608,486
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,080,239...103,099,566
Ensembl chr14:103,080,239...103,099,566
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,537,948...72,710,701
Ensembl chr14:72,537,946...72,710,003
JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,462,488...62,481,155
Ensembl chr14:62,463,414...62,566,921
JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,380,833...59,440,880 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,676,325...62,761,163
Ensembl chr14:62,676,330...62,761,169
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,607,457...61,612,833
Ensembl chr14:61,607,457...61,612,826
JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:102,976,581...102,982,637
Ensembl chr14:102,976,581...102,982,637
JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,866,181...100,285,891
Ensembl chr14:99,870,632...100,284,679
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,298,691...99,313,412
Ensembl chr14:99,298,691...99,315,036
JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,105,265...96,519,034
Ensembl chr14:96,102,736...96,519,102
JBrowse link
G Kpna3 karyopherin (importin) alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,365,186...61,439,947
Ensembl chr14:61,365,211...61,439,874
JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,403,027...89,403,774
Ensembl chr16:89,403,218...89,403,868
JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,729,928...101,934,708
Ensembl chr14:101,729,957...101,934,710
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,237,891...73,240,358
Ensembl chr14:73,237,895...73,243,294
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,510,049...73,518,545
Ensembl chr14:73,510,025...73,518,849
JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,632,027...61,632,110
Ensembl chr14:61,632,027...61,632,110
JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,631,880...61,631,972
Ensembl chr14:61,631,880...61,631,972
JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,738,431...79,738,528
Ensembl chr14:79,738,431...79,738,528
JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,113,411...103,346,840
Ensembl chr14:103,113,411...103,346,814
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,034,544...99,046,453
Ensembl chr14:99,034,544...99,046,134
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,258,591...105,309,298
Ensembl chr14:105,258,573...105,309,298
JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,128,283...22,166,997
Ensembl chr 8:22,128,283...22,166,435
JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,073,615...22,125,418
Ensembl chr 8:22,073,616...22,125,053
JBrowse link
G Nudt15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,518,880...73,548,242
Ensembl chr14:73,518,877...73,548,242
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,477,534...104,522,712
Ensembl chr14:104,477,536...104,522,645
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,000,302...80,023,141
Ensembl chr14:79,984,081...80,023,139
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,443,563...84,537,565
Ensembl chr14:84,443,563...84,539,002
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,464,743...88,471,396
Ensembl chr14:88,464,743...88,471,396
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,766,772...79,771,312
Ensembl chr14:79,766,775...79,771,312
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,013,700...93,892,834
Ensembl chr14:93,013,410...93,890,679
JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,347,407...59,365,490
Ensembl chr14:59,347,407...59,365,470
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,461,675...104,468,118
Ensembl chr14:104,461,676...104,467,999
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,106,751...105,181,039
Ensembl chr14:105,106,751...105,177,327
JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,201,018...59,237,267
Ensembl chr14:59,201,209...59,237,265
JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,138,745...73,184,055
Ensembl chr14:73,123,037...73,207,843
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,332,068...62,372,996
Ensembl chr14:62,292,589...62,372,992
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,513,061...103,613,346
Ensembl chr14:103,513,342...103,612,797
JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,663,298...62,692,243
Ensembl chr14:62,663,667...62,692,243
JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,402,009...59,440,880
Ensembl chr14:59,402,009...59,440,884
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,650,228...103,704,907
Ensembl chr14:103,650,228...103,704,907
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:108,909,988...108,914,239
Ensembl chr14:108,908,800...108,914,158
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,747,338...110,755,204
Ensembl chr14:110,748,580...110,755,149
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,531,851...61,556,886
Ensembl chr14:61,531,993...61,556,886
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,552,786...73,596,144
Ensembl chr14:73,525,319...73,596,142
JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,587,660...79,630,797
Ensembl chr14:79,587,691...79,635,196
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,442,360...101,609,281
Ensembl chr14:101,442,360...101,609,191
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,416,178...87,545,508
Ensembl chr14:87,416,639...87,545,504
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,220,938...22,262,957
Ensembl chr 8:22,227,313...22,261,334
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,598,226...61,610,287
Ensembl chr14:61,598,247...61,605,946
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,653,892...101,696,125
Ensembl chr14:101,653,967...101,696,125
JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,192,833...22,220,953
Ensembl chr 8:22,192,809...22,220,843
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,837,661...62,961,509
Ensembl chr14:62,837,678...62,961,509
JBrowse link
CIC-DUX SARCOMA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c21 aldo-keto reductase family 1, member C21 ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:21802064 NCBI chr13:4,574,075...4,586,543
Ensembl chr13:4,574,075...4,586,541
JBrowse link
G Gp1ba glycoprotein 1b, alpha polypeptide ISO ClinVar Annotator: match by term: CIC-DUX Sarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:70,639,102...70,643,986
Ensembl chr11:70,639,122...70,642,036
JBrowse link
clear cell sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26098867 NCBI chr  X:12,036,737...12,160,516
Ensembl chr  X:12,036,740...12,160,355
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr10:81,528,724...81,545,162
Ensembl chr10:81,528,724...81,545,190
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO
IEA
ClinVar Annotator: match by term: CLOVE 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
ClinVar Annotator: match by term: CLOVES SYNDROME
OMIM:612918
DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM
ClinVar
MouseDO
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23888070 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:30543347 PMID:31775759, PMID:22729222 RGD:13207409 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
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: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr 9:45,906,447...45,932,107
Ensembl chr 9:45,906,497...45,929,726
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: MASTOCYTOSIS, CUTANEOUS
ClinVar Annotator: match by term: Cutaneous mastocytosis
ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:11276010 PMID:11380399 PMID:11493470 PMID:11505412 PMID:12960119 PMID:15173254 PMID:15790786 PMID:15972446 PMID:16307017 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16908931 PMID:16912224 PMID:17259998 PMID:17372901 PMID:18024392 PMID:18980976 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19812602 PMID:19865100 PMID:20736294 PMID:21159146 PMID:21689725 PMID:22357254 PMID:22504184 PMID:22703879 PMID:23582185 PMID:23714533 PMID:24045550 PMID:24728327 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:31775759 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
G Kitl kit ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr10:100,015,615...100,100,416
Ensembl chr10:100,015,630...100,100,416
JBrowse link
dermatofibrosarcoma protuberans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO DNA:gene fusion:exon
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion
RGD PMID:12641779, PMID:22153773 RGD:2292195, RGD:5688300 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
ClinVar
OMIM
PMID:28492532, PMID:12641779 RGD:2292195 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
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 IEA OMIM:166950 MouseDO NCBI chr10:42,181,845...42,276,695
Ensembl chr10:42,181,841...42,276,755
JBrowse link
desmoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Desmoid tumor ClinVar PMID:8162051 PMID:15311282 PMID:17293347 PMID:20223039 PMID:20513532 PMID:20685668 PMID:21643010 PMID:21779980 PMID:22987206 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
desmoplastic small round cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf17 tumor necrosis factor receptor superfamily, member 17 ISO ClinVar Annotator: match by term: Desmoplastic small round cell tumor ClinVar PMID:26822237 NCBI chr16:11,313,232...11,320,074
Ensembl chr16:11,313,812...11,320,074
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: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 NCBI chr 4:89,137,370...89,181,090
Ensembl chr 4:89,137,122...89,181,081
JBrowse link
diffuse midline glioma, H3 K27M-mutant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor, type 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 NCBI chr 2:58,446,438...58,566,828
Ensembl chr 2:58,388,644...58,567,157
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 NCBI chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
embryonal rhabdomyosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT rich interactive domain 1A (SWI-like) ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 4:133,679,008...133,756,769
Ensembl chr 4:133,679,008...133,756,769
JBrowse link
G Bcor BCL6 interacting corepressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr  X:12,036,737...12,160,516
Ensembl chr  X:12,036,740...12,160,355
JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15475955 NCBI chr 2:118,598,202...118,641,592
Ensembl chr 2:118,598,211...118,641,591
JBrowse link
G Dmd dystrophin, muscular dystrophy ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
JBrowse link
G Myod1 myogenic differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793135 NCBI chr 7:46,376,474...46,379,092
Ensembl chr 7:46,376,474...46,379,099
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Rhabdomyosarcoma embryonal ClinVar PMID:26619011 PMID:26822237 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Setd2 SET domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29376028 NCBI chr 9:110,532,500...110,618,633
Ensembl chr 9:110,532,597...110,618,633
JBrowse link
G Slc22a18 solute carrier family 22 (organic cation transporter), member 18 ISS OMIM:268210 MouseDO NCBI chr 7:143,473,726...143,499,334
Ensembl chr 7:143,473,736...143,499,334
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:80,115,767...80,130,679
Ensembl chr10:80,115,803...80,130,682
JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31494105 NCBI chr 9:7,931,999...8,004,638
Ensembl chr 9:7,931,999...8,004,596
JBrowse link
endodermal sinus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afp alpha fetoprotein ISO protein:increased expression:serum RGD PMID:17525908 RGD:2292040 NCBI chr 5:90,490,714...90,508,907
Ensembl chr 5:90,490,737...90,508,907
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO testicular germ cell neoplasms RGD PMID:11764380 RGD:2289339 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
JBrowse link
G Sall4 spalt like transcription factor 4 ISO protein:increased expression:testis, nucleus (human) RGD PMID:23347651 RGD:11557983 NCBI chr 2:168,748,332...168,767,201
Ensembl chr 2:168,748,332...168,767,943
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9111512 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
G Wnt2b wingless-type MMTV integration site family, member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 3:104,944,805...104,961,709
Ensembl chr 3:104,945,272...104,961,921
JBrowse link
endometrial stromal sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO RGD PMID:17367465 RGD:2292170 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c B cell CLL/lymphoma 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,661,454...127,708,766
Ensembl chr 7:127,661,456...127,708,933
JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 4:136,647,536...136,836,326
Ensembl chr 4:136,647,539...136,835,988
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 7:142,650,768...142,666,816
Ensembl chr 7:142,650,766...142,666,816
JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:70,754,703...70,758,608
Ensembl chr 8:70,754,679...70,758,677
JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:84,946,991...84,956,606
Ensembl chr 8:84,946,991...84,956,603
JBrowse link
G Shc3 src homology 2 domain-containing transforming protein C3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr13:51,423,389...51,569,451
Ensembl chr13:51,431,041...51,569,487
JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,861,025...127,876,836
Ensembl chr 7:127,863,047...127,876,828
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen, type IV, alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G Col4a6 collagen, type IV, alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:141,165,403...141,474,095
Ensembl chr  X:141,165,403...141,474,076
JBrowse link
Ewing sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Ewing sarcoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr14:31,251,352...31,259,930
Ensembl chr14:31,251,450...31,259,944
JBrowse link
G Cd99 CD99 antigen ISO ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present ClinVar PMID:25741868
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Ewing tumor ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30093976 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17508423 NCBI chr 2:32,363,007...32,378,313
Ensembl chr 2:32,352,327...32,380,970
JBrowse link
G Egr2 early growth response 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214589 NCBI chr10:67,534,469...67,542,188
Ensembl chr10:67,535,475...67,542,188
JBrowse link
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO ClinVar Annotator: match by term: Ewing's sarcoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532, PMID:1522903 RGD:1598915 NCBI chr11:5,069,687...5,099,107
Ensembl chr11:5,069,689...5,099,266
JBrowse link
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11772151 PMID:16646077 PMID:26214589 NCBI chr 9:32,422,204...32,543,432
Ensembl chr 9:32,422,204...32,542,861
JBrowse link
G Kdm3a lysine (K)-specific demethylase 3A ISO mRNA:increased expression:bone marrow (human) RGD PMID:24362521 RGD:9590218 NCBI chr 6:71,588,970...71,632,990
Ensembl chr 6:71,588,972...71,632,990
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ewing's sarcoma
ClinVar Annotator: match by term: Ewing sarcoma
ClinVar PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 PMID:10712197 PMID:11137998 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:25810463 PMID:26467025 PMID:26962827 PMID:27322474 PMID:28492532 PMID:31730495 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Ewing tumor ClinVar PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:28166811 PMID:28492532 PMID:30093976 NCBI chr10:127,067,287...127,070,972
Ensembl chr10:127,067,280...127,070,264
JBrowse link
Experimental Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO RGD PMID:7407223 RGD:1598794 NCBI chr 2:75,832,177...75,931,350
Ensembl chr 2:75,832,177...75,931,350
JBrowse link
G Alb albumin IEP mRNA,protein:decreased expression:liver,serum: RGD PMID:1900492 RGD:11035284 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:9743294 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Ifng interferon gamma treatment IAGP RGD PMID:2119881 RGD:10755752 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO A to T transversion; Gln to His substitution RGD PMID:11295286 RGD:1598680 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Nras neuroblastoma ras oncogene ISO DNA:transversion:exon p.Q61L (human) RGD PMID:11295286 RGD:1598680 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Slc6a14 solute carrier family 6 (neurotransmitter transporter), member 14 ISO mRNA, protein:increased expression:brush border epithelial cell RGD PMID:17006743 RGD:1625275 NCBI chr  X:21,714,900...21,742,358
Ensembl chr  X:21,714,896...21,742,355
JBrowse link
extraosseous Ewing sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Ewing sarcoma of soft tissue ClinVar PMID:25741868 PMID:28492532 NCBI chr17:87,635,979...87,651,127
Ensembl chr17:87,635,979...87,651,129
JBrowse link
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 PMID:26467025 PMID:28492532 PMID:29263839 PMID:29642553 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
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 chr 4:48,045,078...48,086,447
Ensembl chr 4:48,045,153...48,086,447
JBrowse link
G Taf15 TATA-box binding protein associated factor 15 ISO OMIM NCBI chr11:83,473,073...83,506,743
Ensembl chr11:83,473,086...83,506,743
JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:143,603,276...143,702,893
Ensembl chr 1:143,598,800...143,702,893
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple RGD PMID:17096365 RGD:8547984 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
Fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fosl1 fos-like antigen 1 ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr19:5,447,698...5,455,938
Ensembl chr19:5,447,547...5,455,946
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038752 PMID:26437033 NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr11:98,927,800...98,974,942
Ensembl chr11:98,927,818...98,974,942
JBrowse link
G Wnt2 wingless-type MMTV integration site family, member 2 ISO mRNA:increased expression:breast RGD PMID:8168088 RGD:2291878 NCBI chr 6:17,985,474...18,032,772
Ensembl chr 6:17,988,940...18,030,585
JBrowse link
G Wnt4 wingless-type MMTV integration site family, member 4 ISO breast fibroadenoma RGD PMID:8168088 RGD:2291878 NCBI chr 4:137,277,635...137,299,501
Ensembl chr 4:137,277,489...137,299,726
JBrowse link
fibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12973667 PMID:14508707 RGD:1599125 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO RGD PMID:18456653 RGD:9586716 NCBI chr12:112,955,631...113,000,706
Ensembl chr12:112,960,085...113,000,704
JBrowse link
G Grm1 glutamate receptor, metabotropic 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24658000 NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
JBrowse link
Fibromatosis, Abdominal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686957 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
fibrosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO RGD PMID:17971488 RGD:5688275 NCBI chr 4:137,319,696...137,357,759
Ensembl chr 4:137,319,696...137,357,720
JBrowse link
G Egr1 early growth response 1 IMP human tumor line expressing mouse gene in mouse model RGD PMID:7585551 RGD:5131944 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 susceptibility IMP RGD PMID:11238917 RGD:11567233 NCBI chr14:32,513,291...32,580,990
Ensembl chr14:32,513,521...32,580,990
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20601955 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 severity IMP RGD PMID:11059781 RGD:8547752 NCBI chr 5:137,061,504...137,072,272
Ensembl chr 5:137,061,504...137,072,268
JBrowse link
G Tert telomerase reverse transcriptase treatment IMP RGD PMID:19903903 RGD:11038656 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO human gene in mouse model RGD PMID:10753499 RGD:5131435 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
fibrous histiocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfhas1 malignant fibrous histiocytoma amplified sequence 1 ISO RGD PMID:9973190 RGD:1599928 NCBI chr 8:35,587,789...35,679,449
Ensembl chr 8:35,587,798...35,679,449
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16984259 NCBI chr 7:133,674,270...133,680,061
Ensembl chr 7:133,674,270...133,680,061
JBrowse link
ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 NCBI chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
gastrointestinal stromal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700016C15Rik RIKEN cDNA 1700016C15 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:177,728,137...177,753,309
Ensembl chr 1:177,729,814...177,753,324
JBrowse link
G 1700025G04Rik RIKEN cDNA 1700025G04 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:151,884,524...152,091,121
Ensembl chr 1:151,852,403...152,090,125
JBrowse link
G 1700094D03Rik RIKEN cDNA 1700094D03 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:90,062,808...90,068,347
Ensembl chr 3:90,062,796...90,068,347
JBrowse link
G 2010315B03Rik RIKEN cDNA 2010315B03 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 9:124,291,802...124,312,719
Ensembl chr 9:124,291,804...124,312,696
JBrowse link
G 2310009B15Rik RIKEN cDNA 2310009B15 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:138,851,979...138,856,854
Ensembl chr 1:138,851,983...138,856,852
JBrowse link
G 2310022B05Rik RIKEN cDNA 2310022B05 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,635,756...124,663,369
Ensembl chr 8:124,635,756...124,663,369
JBrowse link
G 2310033P09Rik RIKEN cDNA 2310033P09 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr11:59,208,361...59,210,736
Ensembl chr11:59,208,321...59,210,738
JBrowse link
G 2310050C09Rik RIKEN cDNA 2310050C09 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:92,868,359...92,870,205
Ensembl chr 3:92,868,359...92,870,216
JBrowse link
G 2810004N23Rik RIKEN cDNA 2810004N23 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,839,355...124,863,029
Ensembl chr 8:124,836,945...124,863,120
JBrowse link
G 4930523C07Rik RIKEN cDNA 4930523C07 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:160,044,380...160,078,587
Ensembl chr 1:160,044,382...160,080,208
JBrowse link
G 4930558K02Rik RIKEN cDNA 4930558K02 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:161,942,089...161,982,371
Ensembl chr 1:161,942,086...161,979,636
JBrowse link
G 4933434E20Rik RIKEN cDNA 4933434E20 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:90,051,636...90,063,341
Ensembl chr 3:90,051,636...90,063,341
Ensembl chr 3:90,051,636...90,063,341
JBrowse link
G A130010J15Rik RIKEN cDNA A130010J15 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:193,173,469...193,177,837
Ensembl chr 1:193,168,046...193,177,832
JBrowse link
G AA986860 expressed sequence AA986860 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:130,731,942...130,744,622
Ensembl chr 1:130,731,976...130,744,622
JBrowse link
G Abcb10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:123,952,459...123,983,122
Ensembl chr 8:123,952,459...123,983,122
JBrowse link
G Abl2 v-abl Abelson murine leukemia viral oncogene 2 (arg, Abelson-related gene) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:156,558,590...156,649,619
Ensembl chr 1:156,558,786...156,649,568
JBrowse link
G Acbd3 acyl-Coenzyme A binding domain containing 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:180,726,043...180,754,204
Ensembl chr 1:180,726,043...180,754,204
JBrowse link
G Acbd6 acyl-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:155,558,099...155,687,474
Ensembl chr 1:155,558,120...155,691,330
JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:173,331,886...173,333,503
Ensembl chr 1:173,331,886...173,333,750
JBrowse link
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:97,158,752...97,176,576
Ensembl chr 3:97,158,777...97,177,299
JBrowse link
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:123,891,758...123,894,775
Ensembl chr 8:123,891,769...123,894,751
JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:12,269,426...12,340,732
Ensembl chr13:12,269,426...12,340,760
JBrowse link
G Adam15 a disintegrin and metallopeptidase domain 15 (metargidin) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,339,640...89,350,028
Ensembl chr 3:89,338,542...89,349,996
JBrowse link
G Adamts4 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr 1:171,250,129...171,262,267
Ensembl chr 1:171,250,421...171,260,637
JBrowse link
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,676,201...95,687,927
Ensembl chr 3:95,676,201...95,687,917
JBrowse link
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,714,469...89,753,455
Ensembl chr 3:89,715,022...89,753,446
JBrowse link
G Adcy10 adenylate cyclase 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:165,483,518...165,576,778
Ensembl chr 1:165,485,183...165,576,774
JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,415,378...134,433,351
Ensembl chr 1:134,415,378...134,433,351
JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,199,215...134,235,457
Ensembl chr 1:134,199,223...134,235,431
JBrowse link
G Adss adenylosuccinate synthetase, non muscle ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:177,763,176...177,796,695
Ensembl chr 1:177,762,962...177,796,511
JBrowse link
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:179,744,904...179,804,015
Ensembl chr 1:179,744,894...179,803,680
JBrowse link
G Aida axin interactor, dorsalization associated ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:183,297,060...183,324,501
Ensembl chr 1:183,296,590...183,325,476
JBrowse link
G Aim2 absent in melanoma 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:173,349,547...173,466,040
Ensembl chr 1:173,350,879...173,466,040
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Aldh9a1 aldehyde dehydrogenase 9, subfamily A1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:167,349,963...167,368,530
Ensembl chr 1:167,349,991...167,368,532
JBrowse link
G Angel2 angel homolog 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:190,925,108...190,946,963
Ensembl chr 1:190,925,112...190,946,962
JBrowse link
G Angptl1 angiopoietin-like 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:156,839,023...156,861,078
Ensembl chr 1:156,838,562...156,861,078
JBrowse link
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,595,928...96,600,126
Ensembl chr 3:96,596,636...96,599,775
JBrowse link
G Ankrd35 ankyrin repeat domain 35 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,670,131...96,691,034
Ensembl chr 3:96,670,131...96,691,032
JBrowse link
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:161,142,447...161,170,510
Ensembl chr 1:161,142,691...161,170,498
JBrowse link
G Anp32e acidic (leucine-rich) nuclear phosphoprotein 32 family, member E ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,929,245...95,947,387
Ensembl chr 3:95,929,246...95,947,390
JBrowse link
G Anxa9 annexin A9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,296,093...95,315,180
Ensembl chr 3:95,296,096...95,307,176
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors
ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine
ClinVar Annotator: match by term: Small Intestinal Gastrointestinal Stromal Tumor
ClinVar PMID:25741868 PMID:26530882 PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Apcs amyloid P component, serum ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,893,961...172,895,054
Ensembl chr 1:172,893,961...172,895,041
JBrowse link
G Aph1a aph1 homolog A, gamma secretase subunit ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,893,921...95,898,592
Ensembl chr 3:95,893,969...95,898,288
JBrowse link
G Apoa2 apolipoprotein A-II ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr 1:171,221,564...171,226,379
Ensembl chr 1:171,225,054...171,226,379
JBrowse link
G Apobec4 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:152,750,551...152,757,544
Ensembl chr 1:152,750,551...152,757,544
JBrowse link
G Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr11:59,211,412...59,228,267
Ensembl chr11:59,211,412...59,228,270
JBrowse link
G Arhgap30 Rho GTPase activating protein 30 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr 1:171,388,960...171,410,240
Ensembl chr 1:171,388,954...171,410,298
JBrowse link
G Arhgef11 Rho guanine nucleotide exchange factor (GEF) 11 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,617,548...87,738,039
Ensembl chr 3:87,617,559...87,738,034
JBrowse link
G Arhgef2 rho/rac guanine nucleotide exchange factor (GEF) 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,593,105...88,649,532
Ensembl chr 3:88,605,966...88,648,052
JBrowse link
G Arid4b AT rich interactive domain 4B (RBP1-like) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:14,063,609...14,199,603
Ensembl chr13:14,063,232...14,199,603
JBrowse link
G Arl8a ADP-ribosylation factor-like 8A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:135,146,834...135,156,268
Ensembl chr 1:135,146,824...135,156,269
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,434,367...95,497,240
Ensembl chr 3:95,434,388...95,497,240
JBrowse link
G Arpc5 actin related protein 2/3 complex, subunit 5 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:152,766,542...152,775,580
Ensembl chr 1:152,766,542...152,775,597
JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,722,026...124,742,794
Ensembl chr 8:124,722,139...124,734,123
JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:136,050,804...136,051,370
Ensembl chr 1:136,050,804...136,051,370
JBrowse link
G Ash1l ASH1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,950,414...89,079,375
Ensembl chr 3:88,950,622...89,079,375
JBrowse link
G Aspm abnormal spindle microtubule assembly ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,454,188...139,494,088
Ensembl chr 1:139,454,772...139,494,091
JBrowse link
G Astn1 astrotactin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:158,362,102...158,691,786
Ensembl chr 1:158,362,273...158,691,781
JBrowse link
G Atf3 activating transcription factor 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:191,170,296...191,183,333
Ensembl chr 1:191,170,296...191,218,039
JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
G Atp1a2 ATPase, Na+/K+ transporting, alpha 2 polypeptide ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,271,709...172,298,064
Ensembl chr 1:172,271,709...172,298,064
JBrowse link
G Atp1a4 ATPase, Na+/K+ transporting, alpha 4 polypeptide ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,223,508...172,258,424
Ensembl chr 1:172,223,513...172,258,414
JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,437,099...164,458,355
Ensembl chr 1:164,437,109...164,458,355
JBrowse link
G Atp2b4 ATPase, Ca++ transporting, plasma membrane 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:133,702,674...133,801,059
Ensembl chr 1:133,699,457...133,801,041
JBrowse link
G Atp6v1g3 ATPase, H+ transporting, lysosomal V1 subunit G3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:138,273,738...138,289,462
Ensembl chr 1:138,273,738...138,289,462
JBrowse link
G Atp8b2 ATPase, class I, type 8B, member 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,939,481...89,963,338
Ensembl chr 3:89,939,481...89,963,508
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:131,599,114...131,612,000
Ensembl chr 1:131,599,239...131,612,000
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:156,330,415...156,421,176
Ensembl chr 1:156,323,509...156,421,159
JBrowse link
G B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:13,954,474...13,999,103
Ensembl chr13:13,954,469...13,999,103
JBrowse link
G B3galt2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:143,640,697...143,649,937
Ensembl chr 1:143,640,664...143,654,614
JBrowse link
G B4galt3 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,270,328...171,276,895
Ensembl chr 1:171,270,328...171,276,896
JBrowse link
G B9d1 B9 protein domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr11:61,505,144...61,512,931
Ensembl chr11:61,505,144...61,512,931
JBrowse link
G Bag6 BCL2-associated athanogene 6 disease_progression ISO RGD PMID:28197361 RGD:14390153 NCBI chr17:35,135,156...35,147,321
Ensembl chr17:35,135,178...35,147,322
JBrowse link
G Batf3 basic leucine zipper transcription factor, ATF-like 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:191,098,414...191,108,943
Ensembl chr 1:191,097,847...191,108,945
JBrowse link
G BC028528 cDNA sequence BC028528 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,883,945...95,892,062
Ensembl chr 3:95,883,954...95,892,005
JBrowse link
G BC034090 cDNA sequence BC034090 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:155,212,471...155,245,639
Ensembl chr 1:155,212,471...155,244,444
JBrowse link
G BC055324 cDNA sequence BC055324 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:163,945,993...163,994,809
Ensembl chr 1:163,945,993...163,994,796
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,987,531...88,002,175
Ensembl chr 3:87,987,531...88,000,230
JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:97,203,658...97,298,402
Ensembl chr 3:97,203,662...97,297,917
JBrowse link
G Bglap bone gamma carboxyglutamate protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,383,495...88,384,466
Ensembl chr 3:88,383,501...88,384,464
JBrowse link
G Blzf1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,289,799...164,307,487
Ensembl chr 1:164,289,800...164,307,489
JBrowse link
G Bnipl BCL2/adenovirus E1B 19kD interacting protein like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,241,276...95,252,144
Ensembl chr 3:95,241,271...95,251,193
JBrowse link
G Boc biregional cell adhesion molecule-related/down-regulated by oncogenes (Cdon) binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr16:44,485,045...44,558,870
Ensembl chr16:44,485,049...44,558,897
JBrowse link
G Bola1 bolA-like 1 (E. coli) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,196,583...96,198,483
Ensembl chr 3:96,196,588...96,219,709
JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:185,329,428...185,357,777
Ensembl chr 1:185,332,149...185,357,777
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brinp2 bone morphogenic protein/retinoic acid inducible neural-specific 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:158,245,265...158,356,528
Ensembl chr 1:158,245,269...158,356,326
JBrowse link
G Brinp3 bone morphogenetic protein/retinoic acid inducible neural specific 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:146,495,629...146,902,472
Ensembl chr 1:146,494,760...146,902,472
JBrowse link
G Brox BRO1 domain and CAAX motif containing ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:183,276,352...183,297,298
Ensembl chr 1:183,276,352...183,297,269
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,074,865...134,079,155
Ensembl chr 1:134,075,170...134,079,120
JBrowse link
G Btnl10 butyrophilin-like 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr11:58,917,877...58,926,965
Ensembl chr11:58,917,908...58,927,158
JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:184,871,926...184,883,036
Ensembl chr 1:184,871,926...184,883,218
JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 7:100,372,229...100,470,159
Ensembl chr 7:100,372,233...100,470,152
JBrowse link
G C2cd4d C2 calcium-dependent domain containing 4D ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:94,362,444...94,364,567
Ensembl chr 3:94,362,438...94,364,566
JBrowse link
G Cacna1e calcium channel, voltage-dependent, R type, alpha 1E subunit ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:154,390,806...154,884,785
Ensembl chr 1:154,390,731...154,884,501
JBrowse link
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:136,052,806...136,119,822
Ensembl chr 1:136,052,750...136,119,822
JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:160,202,367...160,212,892
Ensembl chr 1:160,202,367...160,212,875
JBrowse link
G Cadm3 cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:173,331,892...173,368,139
Ensembl chr 1:173,333,258...173,367,695
JBrowse link
G Camk1g calcium/calmodulin-dependent protein kinase I gamma ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:193,346,346...193,370,355
Ensembl chr 1:193,346,346...193,370,298
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 chr 1:136,268,123...136,346,117
Ensembl chr 1:136,268,123...136,346,104
JBrowse link
G Capn2 calpain 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:182,467,253...182,517,610
Ensembl chr 1:182,467,260...182,517,608
JBrowse link
G Capn8 calpain 8 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:182,564,749...182,634,456
Ensembl chr 1:182,565,007...182,632,352
JBrowse link
G Capn9 calpain 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,576,062...124,618,731
Ensembl chr 8:124,576,111...124,618,731
JBrowse link
G Car14 carbonic anhydrase 14 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,897,768...95,905,117
Ensembl chr 3:95,897,768...95,904,691
JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,209,894...172,219,895
Ensembl chr 1:172,209,894...172,219,868
JBrowse link
G Catspere2 cation channel sperm associated auxiliary subunit epsilon 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:177,983,155...178,172,707
Ensembl chr 1:177,983,423...178,172,705
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 5:43,662,374...43,740,975
Ensembl chr 5:43,662,346...43,740,972
JBrowse link
G Ccdc181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,275,598...164,287,847
Ensembl chr 1:164,275,585...164,287,847
JBrowse link
G Ccdc185 coiled-coil domain containing 185 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:182,747,126...182,749,180
Ensembl chr 1:182,747,126...182,749,180
JBrowse link
G Ccdc190 coiled-coil domain containing 190 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:169,928,599...169,935,318
Ensembl chr 1:169,928,648...169,934,653
JBrowse link
G Ccsap centriole, cilia and spindle associated protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:123,839,973...123,860,209
Ensembl chr 8:123,840,831...123,860,209
JBrowse link
G Cct3 chaperonin containing Tcp1, subunit 3 (gamma) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,297,135...88,321,766
Ensembl chr 3:88,297,116...88,321,767
JBrowse link
G Cd160 CD160 antigen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:96,798,763...96,829,351
Ensembl chr 3:96,798,763...96,829,351
JBrowse link
G Cd1d1 CD1d1 antigen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:86,995,834...87,012,358
Ensembl chr 3:86,995,834...86,999,441
JBrowse link
G Cd244a CD244 molecule A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr 1:171,558,718...171,585,316
Ensembl chr 1:171,559,193...171,609,746
JBrowse link
G Cd247 CD247 antigen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:165,779,952...165,871,153
Ensembl chr 1:165,788,681...165,877,277
JBrowse link
G Cd34 CD34 antigen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:194,938,821...194,961,292
Ensembl chr 1:194,938,819...194,961,279
JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 9:44,998,735...45,009,663
Ensembl chr 9:44,998,740...45,009,627
JBrowse link
G Cd46 CD46 antigen, complement regulatory protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:195,038,971...195,098,784
Ensembl chr 1:195,036,826...195,092,249
JBrowse link
G Cd48 CD48 antigen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,681,245...171,705,258
Ensembl chr 1:171,682,009...171,705,258
JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:130,429,798...130,465,009
Ensembl chr 1:130,439,027...130,462,744
JBrowse link
G Cd5l CD5 antigen-like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,357,881...87,371,074
Ensembl chr 3:87,357,881...87,371,073
JBrowse link
G Cd84 CD84 antigen ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,839,697...171,890,718
Ensembl chr 1:171,839,697...171,890,718
JBrowse link
G Cdc42bpa CDC42 binding protein kinase alpha ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:179,960,079...180,165,606
Ensembl chr 1:179,960,472...180,165,603
JBrowse link
G Cdc42se1 CDC42 small effector 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,228,424...95,236,424
Ensembl chr 3:95,228,732...95,236,409
JBrowse link
G Cdc73 cell division cycle 73, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:143,603,276...143,702,893
Ensembl chr 1:143,598,800...143,702,893
JBrowse link
G Cdk18 cyclin-dependent kinase 18 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:132,113,547...132,139,698
Ensembl chr 1:132,112,237...132,139,684
JBrowse link
G Cdon cell adhesion molecule-related/down-regulated by oncogenes ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 9:35,421,528...35,507,652
Ensembl chr 9:35,421,128...35,507,652
JBrowse link
G Celf3 CUGBP, Elav-like family member 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:94,478,285...94,496,786
Ensembl chr 3:94,478,295...94,492,198
JBrowse link
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:189,640,606...189,688,107
Ensembl chr 1:189,640,606...189,688,086
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:161,070,767...161,086,724
Ensembl chr 1:161,070,713...161,086,724
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:176,729,072...176,813,979
Ensembl chr 1:176,733,653...176,814,067
JBrowse link
G Cep350 centrosomal protein 350 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:155,844,964...155,973,270
Ensembl chr 1:155,844,964...155,973,255
JBrowse link
G Cers2 ceramide synthase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,314,771...95,323,599
Ensembl chr 3:95,314,791...95,323,599
JBrowse link
G Cfap126 cilia and flagella associated protein 126 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:171,113,912...171,126,956
Ensembl chr 1:171,113,918...171,126,967
JBrowse link
G Cfap45 cilia and flagella associated protein 45 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,521,130...172,545,870
Ensembl chr 1:172,520,801...172,545,870
JBrowse link
G Cfh complement component factor h ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:140,085,855...140,183,411
Ensembl chr 1:140,084,708...140,183,764
JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,547,064...139,560,222
Ensembl chr 1:139,547,053...139,560,272
JBrowse link
G Cfhr2 complement factor H-related 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,810,292...139,858,699
Ensembl chr 1:139,804,167...139,858,718
Ensembl chr 1:139,804,167...139,858,718
JBrowse link
G Cfhr4 complement factor H-related 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,697,919...139,781,239
Ensembl chr 1:139,697,623...139,781,243
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:94,760,069...94,787,725
Ensembl chr 3:94,760,069...94,786,515
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:97,560,740...97,610,222
Ensembl chr 3:97,560,742...97,610,203
JBrowse link
G Chil1 chitinase-like 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,182,156...134,190,031
Ensembl chr 1:134,182,176...134,190,181
JBrowse link
G Chit1 chitinase 1 (chitotriosidase) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,111,242...134,151,541
Ensembl chr 1:134,111,242...134,151,540
JBrowse link
G Chml choroideremia-like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:175,682,237...175,688,353
Ensembl chr 1:175,682,237...175,692,901
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:9,875,486...10,361,062
Ensembl chr13:9,875,486...10,360,847
JBrowse link
G Chrnb2 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,753,448...89,764,632
Ensembl chr 3:89,746,195...89,764,632
JBrowse link
G Chtop chromatin target of PRMT1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:90,498,539...90,509,527
Ensembl chr 3:90,498,956...90,509,498
JBrowse link
G Ciart circadian associated repressor of transcription ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,878,500...95,882,257
Ensembl chr 3:95,878,503...95,882,251
JBrowse link
G Cks1b CDC28 protein kinase 1b ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,415,472...89,418,291
Ensembl chr 3:89,415,472...89,418,383
JBrowse link
G Clk2 CDC-like kinase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,164,795...89,177,087
Ensembl chr 3:89,164,795...89,176,921
JBrowse link
G Cnih3 cornichon family AMPA receptor auxiliary protein 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:181,350,459...181,460,641
Ensembl chr 1:181,352,628...181,460,641
JBrowse link
G Cnih4 cornichon family AMPA receptor auxiliary protein 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:181,150,366...181,168,994
Ensembl chr 1:181,144,693...181,168,994
JBrowse link
G Cnst consortin, connexin sorting protein ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:179,546,444...179,627,478
Ensembl chr 1:179,546,370...179,627,478
JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:132,509,425...132,543,251
Ensembl chr 1:132,509,427...132,543,256
JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:126,422,501...126,425,435
Ensembl chr 8:126,422,515...126,425,433
JBrowse link
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,520,767...124,552,008
Ensembl chr 8:124,520,767...124,552,008
JBrowse link
G Colgalt2 collagen beta(1-O)galactosyltransferase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:152,399,805...152,510,695
Ensembl chr 1:152,399,830...152,510,695
JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:159,232,156...159,354,872
Ensembl chr 1:159,232,320...159,347,640
JBrowse link
G Copa coatomer protein complex subunit alpha ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,082,529...172,122,332
Ensembl chr 1:172,082,529...172,122,330
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:180,165,238...180,196,020
Ensembl chr 1:180,165,238...180,199,602
JBrowse link
G Cox20 cytochrome c oxidase assembly protein 20 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:178,318,095...178,322,693
Ensembl chr 1:178,319,130...178,322,693
JBrowse link
G Cr1l complement component (3b/4b) receptor 1-like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:195,098,711...195,131,570
Ensembl chr 1:195,097,382...195,131,586
JBrowse link
G Cr2 complement receptor 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:195,136,811...195,176,880
Ensembl chr 1:195,136,811...195,176,716
JBrowse link
G Crabp2 cellular retinoic acid binding protein II ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,948,693...87,953,372
Ensembl chr 3:87,948,666...87,953,376
JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,176,649...139,379,316
Ensembl chr 1:139,197,056...139,377,100
JBrowse link
G Crct1 cysteine-rich C-terminal 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:93,014,205...93,015,686
Ensembl chr 3:93,014,205...93,015,687
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:90,237,498...90,244,582
Ensembl chr 3:90,237,500...90,243,512
JBrowse link
G Creg1 cellular repressor of E1A-stimulated genes 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:165,763,758...165,775,309
Ensembl chr 1:165,763,746...165,775,308
JBrowse link
G Crnn cornulin ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:93,144,789...93,149,818
Ensembl chr 3:93,144,787...93,149,819
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Crtc2 CREB regulated transcription coactivator 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:90,253,858...90,264,125
Ensembl chr 3:90,254,163...90,264,125
JBrowse link
G Csrp1 cysteine and glycine-rich protein 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:135,720,063...135,752,229
Ensembl chr 1:135,720,061...135,752,232
JBrowse link
G Ctnna1 catenin (cadherin associated protein), alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr18:35,118,902...35,254,776
Ensembl chr18:35,118,859...35,254,779
JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:131,638,314...131,675,507
Ensembl chr 1:131,638,306...131,675,505
JBrowse link
G Ctsk cathepsin K ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,499,210...95,509,387
Ensembl chr 3:95,499,256...95,509,362
JBrowse link
G Ctss cathepsin S ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,526,786...95,556,405
Ensembl chr 3:95,526,786...95,556,403
JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:134,405,781...134,411,738
Ensembl chr 1:134,405,559...134,411,740
JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:88,920,803...88,951,213
Ensembl chr 3:88,920,803...88,951,181
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:161,037,580...161,070,668
Ensembl chr 1:161,040,601...161,070,658
JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:165,329,500...165,460,906
Ensembl chr 1:165,328,698...165,460,475
JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,148,015...172,196,393
Ensembl chr 1:172,148,084...172,197,005
JBrowse link
G Dcst1 DC-STAMP domain containing 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,350,219...89,365,253
Ensembl chr 3:89,350,219...89,365,253
JBrowse link
G Dcst2 DC-STAMP domain containing 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,350,417...89,377,643
Ensembl chr 3:89,361,975...89,377,549
JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:169,972,307...170,110,836
Ensembl chr 1:169,972,307...170,110,762
JBrowse link
G Ddx59 DEAD box helicase 59 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:136,415,271...136,456,192
Ensembl chr 1:136,415,271...136,440,158
JBrowse link
G Dedd death effector domain-containing ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr 1:171,324,661...171,342,501
Ensembl chr 1:171,329,145...171,342,331
JBrowse link
G Degs1 delta(4)-desaturase, sphingolipid 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:182,275,964...182,282,854
Ensembl chr 1:182,275,772...182,282,804
JBrowse link
G Dennd1b DENN/MADD domain containing 1B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:138,963,709...139,176,043
Ensembl chr 1:138,963,435...139,178,960
JBrowse link
G Dennd4b DENN/MADD domain containing 4B ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:90,265,020...90,280,665
Ensembl chr 3:90,265,185...90,280,669
JBrowse link
G Desi2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:178,187,417...178,252,598
Ensembl chr 1:178,187,417...178,257,301
JBrowse link
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Gastrointestinal Stromal Tumors ClinVar PMID:25227144 NCBI chr13:92,354,783...92,389,053
Ensembl chr13:92,354,726...92,389,053
JBrowse link
G Dhx9 DEAH (Asp-Glu-Ala-His) box polypeptide 9 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:153,455,756...153,487,688
Ensembl chr 1:153,455,758...153,487,660
JBrowse link
G Disc1 disrupted in schizophrenia 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:125,048,767...125,265,143
Ensembl chr 8:125,054,195...125,261,858
JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gastrointestinal stromal tumor
CTD
ClinVar
PMID:27793025 PMID:28492532 NCBI chr 1:183,086,264...183,221,537
Ensembl chr 1:183,086,266...183,221,522
JBrowse link
G Dmd dystrophin, muscular dystrophy ISO CTD Direct Evidence: marker/mechanism CTD PMID:24793134 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
JBrowse link
G Dnah14 dynein, axonemal, heavy chain 14 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:181,576,593...181,814,932
Ensembl chr 1:181,576,559...181,815,774
JBrowse link
G Dnm3 dynamin 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:161,982,450...162,478,321
Ensembl chr 1:161,982,453...162,478,034
JBrowse link
G Dnm3os dynamin 3, opposite strand ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:162,217,623...162,225,550
Ensembl chr 1:162,217,623...162,225,550
JBrowse link
G Dpm3 dolichyl-phosphate mannosyltransferase polypeptide 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,257,065...89,267,079
Ensembl chr 3:89,259,358...89,267,079
JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,796,663...164,824,274
Ensembl chr 1:164,796,644...164,824,266
JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:132,417,389...132,466,959
Ensembl chr 1:132,417,555...132,466,958
JBrowse link
G Dtl denticleless E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:191,537,356...191,575,544
Ensembl chr 1:191,537,356...191,575,544
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:184,034,381...184,075,636
Ensembl chr 1:184,013,302...184,075,636
JBrowse link
G Dusp12 dual specificity phosphatase 12 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:170,874,187...170,885,540
Ensembl chr 1:170,873,498...170,885,540
JBrowse link
G Dusp23 dual specificity phosphatase 23 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:172,630,769...172,632,974
Ensembl chr 1:172,630,764...172,632,962
JBrowse link
G Dusp27 dual specificity phosphatase 27 (putative) ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:166,098,148...166,127,898
Ensembl chr 1:166,098,148...166,127,922
JBrowse link
G Dyrk2 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr10:118,855,602...118,889,245
Ensembl chr10:118,855,603...118,870,209
JBrowse link
G Dyrk3 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:131,128,441...131,138,234
Ensembl chr 1:131,127,455...131,138,340
JBrowse link
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,734,147...95,739,876
Ensembl chr 3:95,734,147...95,739,569
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:12,471,209...12,520,535
Ensembl chr13:12,472,632...12,520,438
JBrowse link
G Edem3 ER degradation enhancer, mannosidase alpha-like 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:151,755,344...151,822,328
Ensembl chr 1:151,755,371...151,822,051
JBrowse link
G Eef1aknmt EEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:162,533,671...162,548,541
Ensembl chr 1:162,532,127...162,548,551
JBrowse link
G Efcab2 EF-hand calcium binding domain 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:178,406,018...178,484,513
Ensembl chr 1:178,406,085...178,484,513
JBrowse link
G Efna1 ephrin A1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,271,730...89,280,951
Ensembl chr 3:89,271,733...89,281,142
JBrowse link
G Efna3 ephrin A3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,313,899...89,322,939
Ensembl chr 3:89,313,899...89,322,965
JBrowse link
G Efna4 ephrin A4 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:89,333,393...89,338,028
Ensembl chr 3:89,333,390...89,338,028
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,908,587...124,949,254
Ensembl chr 8:124,908,587...124,949,324
JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:131,153,172...131,187,659
Ensembl chr 1:131,153,181...131,187,658
JBrowse link
G Elf3 E74-like factor 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:135,253,574...135,258,472
Ensembl chr 1:135,253,575...135,258,568
JBrowse link
G Elk4 ELK4, member of ETS oncogene family ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:132,007,577...132,026,448
Ensembl chr 1:132,007,607...132,032,612
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27793025 NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564
JBrowse link
G Enah ENAH actin regulator ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:181,896,384...182,027,556
Ensembl chr 1:181,896,384...182,019,990
JBrowse link
G Ensa endosulfine alpha ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:95,624,980...95,632,117
Ensembl chr 3:95,624,993...95,632,102
JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:180,989,556...181,017,569
Ensembl chr 1:180,976,210...181,020,904
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:185,361,417...185,428,360
Ensembl chr 1:185,363,044...185,428,360
JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr13:12,565,818...12,609,533
Ensembl chr13:12,565,874...12,611,396
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:187,608,510...188,214,885
Ensembl chr 1:187,608,791...188,214,885
JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:133,363,463...133,380,318
Ensembl chr 1:133,363,572...133,380,336
JBrowse link
G Etv3 ets variant 3 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,525,577...87,540,158
Ensembl chr 3:87,525,407...87,540,156
JBrowse link
G Etv3l ets variant 3-like ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 3:87,549,887...87,561,105
Ensembl chr 3:87,550,099...87,561,109
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:175,880,768...175,911,396
Ensembl chr 1:175,880,581...175,913,489
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 8:124,890,299...124,897,705
Ensembl chr 8:124,893,108...124,897,705
JBrowse link
G F11r F11 receptor ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumors ClinVar PMID:28492532 NCBI chr 1:171,437,561...171,464,593
Ensembl chr 1:171,437,535...171,464,603
JBrowse link
G F13b coagulation factor XIII, beta subunit ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:139,501,547...139,523,758
Ensembl chr 1:139,501,702...139,523,752
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Gastrointestinal stromal tumor ClinVar PMID:28492532 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link