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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:cerebrum cancer
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Accession:DOID:368 term browser browse the term
Definition:A supratentorial cancer that is located_in the cerebrum. (DO)
Synonyms:exact_synonym: cerebral cancer;   neoplasm of cerebrum;   tumor of Cerebrum
 primary_id: RDO:9002783
 xref: ICD9CM:191.8;   NCI:C4874
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 MMP1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr14:137,266,622...137,296,312 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 chr17:44,048,056...44,265,472
Ensembl chr17:44,047,803...44,265,431
JBrowse link
anaplastic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 More... NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,835...198,638,189
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR542 microRNA mir-542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:110,382,597...110,382,676
Ensembl chr  X:110,382,597...110,382,676
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26286747 PMID:26956052 RGD:11343921 RGD:13782052 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR139 microRNA mir-139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 9:7,175,314...7,175,381
Ensembl chr 9:7,175,308...7,175,385
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,750...40,960,608
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 chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
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 chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
choroid plexus carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,217...74,760,328
JBrowse link
G NF2 neurofibromin 2 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,088,345
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,851,711...15,876,392
JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,067,499...18,100,413
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,892,549...15,942,070 JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,352...45,045,127
JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,298,018...18,400,398
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,286...15,977,945
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,299...18,518,146
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,801...15,766,497
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,105,822...49,128,425 JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,915...25,994,651
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,270...44,188,352
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,837
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,910
JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,394
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,010...18,087,644
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,295...16,658,162
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,130,182...49,151,009
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,372,805...16,468,252
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,133...19,377,917
JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,996...17,793,804
JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,025,134...49,033,208
Ensembl chr11:48,943,477...49,031,093
JBrowse link
G KLF12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,542...46,459,791
JBrowse link
G KLF5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,797...45,388,314
JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,842...42,419,770
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,947,850...18,033,787
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,911,076...48,133,449
Ensembl chr11:47,911,096...48,133,446
JBrowse link
G LOC100155738 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,399...26,132,123
JBrowse link
G LOC106505279 uncharacterized LOC106505279 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,021,127...16,034,650
Ensembl chr11:16,008,665...16,034,395
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,216,305...19,220,913 JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926
JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554
JBrowse link
G MIR16-2 microRNA mir-16-2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,025
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,164,141...49,432,858
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862
JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420
JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,801,354...15,862,231
JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,538
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,261...30,611,727
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:34,384,507...34,390,265 JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,524,034...39,454,240
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,072...18,251,949
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,340
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,337,488...51,420,865
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,040,110...18,197,751
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,105,305...19,182,488
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,829,801...16,911,879
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,448
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,558
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,527...18,297,826
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,820
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,673...54,955,949
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,709...56,522,212
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,499...19,675,791
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,127
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,667,640...15,697,872
JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,792,467...17,849,732
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,829,103...47,887,629
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,370...15,772,693
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,078,058...16,301,828
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 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484
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 chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
glioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTR3 actin related protein 3 ISO mRNA:increased expression:brain (human) RGD PMID:25682201 RGD:11570557 NCBI chr15:20,104,808...20,171,721
Ensembl chr15:20,104,846...20,208,186
JBrowse link
G ADGRB1 adhesion G protein-coupled receptor B1 treatment ISO mRNA:decreased expression:brain: RGD PMID:12507886 PMID:16244591 RGD:13831352 RGD:13831355 NCBI chr 4:1,582,321...1,658,639
Ensembl chr 4:1,582,324...1,659,163
JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 treatment
severity
ISO RGD PMID:23096411 PMID:27416955 RGD:13838664 RGD:13838665 NCBI chr 6:134,362,714...134,462,697
Ensembl chr 6:134,362,901...134,462,694
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:10802656 RGD:734543
G AKT3 AKT serine/threonine kinase 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G ASPM assembly factor for spindle microtubules ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,189...20,039,623
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression ISO ClinVar Annotator: match by term: Glioblastoma multiforme, somatic RGD
ClinVar
PMID:27478330 RGD:13442489 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G BAG3 BAG cochaperone 3 treatment ISO RGD PMID:21561597 RGD:5687132 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr13:104,946,732...105,007,568 JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr13:61,526,121...61,533,686
Ensembl chr13:61,526,197...61,533,686
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,280...52,596,376
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G BRD7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,664
JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,769,342...36,849,575
JBrowse link
G CBX6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 5:9,180,559...9,191,414
Ensembl chr 5:9,180,675...9,188,652
JBrowse link
G CBX7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 5:9,070,312...9,090,467 JBrowse link
G CBX8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr12:2,562,419...2,565,035
Ensembl chr12:2,562,393...2,566,145
JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,940...95,018,726
JBrowse link
G CD9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDK6 cyclin dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10884881 PMID:20534551 RGD:13702095 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,131...200,072,556
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11161003 PMID:21029458 RGD:4892621 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 disease_progression ISO RGD PMID:23360795 RGD:9685152 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,734
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
G CTNND2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr16:508,630...1,521,773
Ensembl chr16:508,634...1,521,611
JBrowse link
G CTSB cathepsin B ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:glioma cell (human)
CTD
RGD
PMID:17898873 PMID:22287159 RGD:2315515 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G CTSH cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,569...48,106,041
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G DEUP1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:25,688,394...25,893,105
Ensembl chr 9:25,689,034...25,893,096
JBrowse link
G DMBT1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr14:132,154,346...132,231,274 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,609,139
JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
JBrowse link
G E2F1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G EGF epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:+61A>G(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16598420 PMID:22481252 RGD:13702472 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD
ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More... NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G FABP7 fatty acid binding protein 7 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr 1:39,872,198...39,876,272
Ensembl chr 1:39,871,145...39,876,387
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,448,760...8,580,715
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,737...68,679,278
JBrowse link
G H3-3A H3 histone, family 3A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,939,594...13,948,000
JBrowse link
G HEATR1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr14:54,821,073...54,870,873
Ensembl chr14:54,821,171...54,869,857
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,724...131,138,236
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,789
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HRAS HRas proto-oncogene, GTPase severity ISO DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
RGD
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... RGD:13702475 RGD:13702872 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 onset
disease_progression
ISO DNA:mutation:cds:p.R132H(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
DNA:mutation:cds:p.R132(human)
RGD
ClinVar
PMID:18772396 PMID:19657110 PMID:19765000 PMID:19798509 PMID:19818334 More... RGD:11074562 RGD:11522732 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IL16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,974,068...50,102,332
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729
G KCNC2 potassium voltage-gated channel subfamily C member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr 5:38,326,408...38,535,826
Ensembl chr 5:38,326,408...38,533,110
JBrowse link
G KDR kinase insert domain receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KRAS KRAS proto-oncogene, GTPase treatment ISO mRNA:decreased expression:brain RGD PMID:16166301 PMID:19179066 RGD:13702861 RGD:13702872 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G L1CAM L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LOC100513779 solute carrier family 22 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:8,580,673...8,603,553 JBrowse link
G LOC100522201 histone H2AX ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833
G LOC396867 stefin A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G LRRC59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,675,054...26,694,271
JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:108,733,347...108,753,276
Ensembl chr 2:108,733,305...108,753,275
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 disease_progression ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,331...61,421,579
JBrowse link
G MDM2 MDM2 proto-oncogene ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MDM4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,223,132
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:transition:cds:p.L84F (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14669534 PMID:20131314 PMID:22162573 RGD:2317667 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MIR21 microRNA mir-21 ameliorates ISO RGD PMID:31730913 RGD:41404645 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7616276 PMID:16598420 RGD:7207145 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G MMP9 matrix metallopeptidase 9 severity
treatment
ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7616276 PMID:12439751 PMID:16598420 RGD:7207145 RGD:8547973 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 More... NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr12:59,256,868...59,392,564 JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
G NDRG4 NDRG family member 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,871...20,265,577
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::
RGD
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... RGD:13702875 RGD:13702876 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G P14ARF p14ARF protein treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21210235 RGD:6482799 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G PDPN podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,998
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21858729 RGD:6771207 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PGF placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta disease_progression ISO RGD PMID:21188471 PMID:26956052 RGD:11343921 RGD:13782050 NCBI chr13:79,427,033...79,610,840
Ensembl chr13:79,425,812...79,610,840
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,099,244
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,005...32,793,880
JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,048...59,450,150
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:29352080 NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
JBrowse link
G POLK DNA polymerase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 2:84,555,648...84,619,490
Ensembl chr 2:84,538,050...84,656,234
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO ClinVar Annotator: match by term: Glioblastoma, somatic ClinVar PMID:9467001 PMID:10523018 PMID:10851250 PMID:14671186 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,511...6,730,881
JBrowse link
G PROM1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,659...11,317,312
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 PMID:11121536 RGD:5688245 RGD:5688250 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:endothelial cell RGD PMID:10229132 PMID:11121536 RGD:5688245 RGD:5688250 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,613...2,896,060
JBrowse link
G RB1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,398...236,898,279
JBrowse link
G RPL35A ribosomal protein L35a ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr13:134,588,288...134,591,873
Ensembl chr13:134,588,333...134,647,965
JBrowse link
G RPL5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,592...124,367,647
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,835...198,638,189
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
G SEPTIN14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 3:16,988,590...17,026,258
Ensembl chr 3:16,990,990...17,025,948
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO RGD PMID:28880870 RGD:13525003 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
JBrowse link
G SRRT serrate, RNA effector molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr 3:8,717,782...8,731,204
Ensembl chr 3:8,717,785...8,731,201
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,997...43,032,644
JBrowse link
G TES testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,878...29,936,233
JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,766...41,221,637
JBrowse link
G TMEM135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:20,741,085...21,020,899
Ensembl chr 9:20,721,956...21,024,995
JBrowse link
G TNC tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,532,449...255,630,377
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,981,604...111,107,423
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar PMID:1349175 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,958,518...128,028,718
JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:36,930,857...37,002,079
Ensembl chr 1:36,930,957...37,002,056
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr 2:74,678,293...74,699,347
Ensembl chr 2:74,681,192...74,695,975
JBrowse link
glioblastoma proneural subtype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 ISO RNA:decreased expression:brain: RGD PMID:22157621 RGD:13782062 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 severity ISO mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,413
JBrowse link
G CYP2C42 cytochrome P450 C42 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr14:106,666,445...106,701,809
Ensembl chr14:106,013,495...106,713,121
JBrowse link
G PLAU plasminogen activator, urokinase severity ISO mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G POR P450 (cytochrome) oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,833
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,841,396...32,846,215
JBrowse link
malignant astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705250 NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,748,761...64,892,153
JBrowse link
G ADGRB1 adhesion G protein-coupled receptor B1 severity ISO RGD PMID:23761815 RGD:13831356 NCBI chr 4:1,582,321...1,658,639
Ensembl chr 4:1,582,324...1,659,163
JBrowse link
G AKT1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:19240976 RGD:5509079
G AKT2 AKT serine/threonine kinase 2 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,789...48,587,919
JBrowse link
G AKT3 AKT serine/threonine kinase 3 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G ANXA1 annexin A1 ISO associated with Tuberous Sclerosis;mRNA:increased expression:brain RGD PMID:20133820 RGD:7421564 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
JBrowse link
G AR androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
JBrowse link
G ATRX ATRX chromatin remodeler severity
disease_progression
ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic RGD
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:23765250 More... RGD:11040585 RGD:9586026 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase onset ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.V600E(human)
DNA:rearrangement: :
CTD
RGD
PMID:19794125 PMID:23817572 PMID:25346165 RGD:11069832 RGD:11567238 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRD7 bromodomain containing 7 severity ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,664
JBrowse link
G BST2 bone marrow stromal cell antigen 2 severity ISO RGD PMID:21565182 RGD:14398497 NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,252...60,309,936
JBrowse link
G CADM2 cell adhesion molecule 2 severity ISO protein:decreased expression:brain RGD PMID:30816549 RGD:19165125 NCBI chr13:169,681,947...170,753,114
Ensembl chr13:169,688,940...170,752,425
JBrowse link
G CAMK2G calcium/calmodulin dependent protein kinase II gamma disease_progression ISO RGD PMID:12937144 RGD:13702480 NCBI chr14:76,535,095...76,632,381
Ensembl chr14:76,535,095...76,592,909
JBrowse link
G CCND1 cyclin D1 severity ISO RGD PMID:10419598 RGD:13681931 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G DLL3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 6:48,135,738...48,155,373
Ensembl chr 6:48,147,730...48,155,373
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,789
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385
JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G IL16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,974,068...50,102,332
JBrowse link
G KIAA1549 KIAA1549 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr18:10,676,845...10,829,487
Ensembl chr18:10,675,328...10,829,391
JBrowse link
G KRAS KRAS proto-oncogene, GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G12D(mouse)
sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R
CTD
RGD
PMID:16247081 PMID:23817572 PMID:24038521 RGD:13702858 RGD:1600476 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,619
JBrowse link
G LATS2 large tumor suppressor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr11:1,225,523...1,265,970
Ensembl chr11:1,225,527...1,265,946
JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO DNA:polymorphism:exon:p.A114V (human) RGD PMID:12241105 RGD:5490125 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,331...61,421,579
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease severity ISO mRNA:decreased expression:brain tumor (human) RGD PMID:17034947 RGD:2317736 NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,360...26,634,568
JBrowse link
G NCOA3 nuclear receptor coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,164...49,663,203
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
G NEDD8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr 7:75,069,947...75,085,905
Ensembl chr 7:75,070,136...75,085,898
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:brain:
CTD
RGD
PMID:10931370 PMID:10973261 PMID:20176786 PMID:23817572 RGD:12743656 RGD:1302542 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,379...30,429,882
JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO protein:decreased expression,decreased activity:brain: RGD PMID:15857672 RGD:10448283 NCBI chr 1:16,202,859...16,249,879
Ensembl chr 1:16,198,223...16,249,531
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G TP53 tumor protein p53 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Astrocytoma, anaplastic
DNA:nonsense mutation:cds:
CTD
ClinVar
RGD
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 More... RGD:13702858 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism
associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,769,246...125,770,307
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO OMIM NCBI chr11:8,805,950...8,858,128 JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,366
JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16314645 PMID:19270706 PMID:23138228 RGD:13702096 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
JBrowse link
G CDK9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 1:268,277,083...268,280,493
Ensembl chr 1:268,275,891...268,281,057
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CTNNB1 catenin beta 1 ISO OMIM NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,044,769
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,361,630...116,436,519
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,902...55,749,781
JBrowse link
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,217...74,760,328
JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr12:48,167,861...48,172,540
Ensembl chr12:48,168,766...48,171,635
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IRS2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:11,002,818...11,109,974 JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)
CTD
RGD
PMID:19270706 RGD:9587481 NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,641...73,889,865
JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19270706 RGD:9587481 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,334...215,507,800
JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:7,257,806...7,277,633
Ensembl chr 5:7,253,644...7,277,576
JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:33,198,295...33,319,477
Ensembl chr 1:33,198,301...33,319,367
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,560
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:95,696,086...95,702,627
Ensembl chr 6:95,696,094...95,702,648
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:19270706 PMID:26619011 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr14:48,901,097...48,906,855 JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,202
JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,136,597
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:18347096 PMID:19155313 PMID:19213072 PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTCH2 patched 2 ISO OMIM NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,154...32,825,369
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma RGD
ClinVar
PMID:10783170 PMID:25741868 PMID:28492532 RGD:1302544 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 4:96,098,264...96,099,686
Ensembl chr 4:96,098,283...96,099,685
JBrowse link
G SCG5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 1:136,525,920...136,590,021
Ensembl chr 1:136,525,943...136,593,583
JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,605...14,823,413
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,502,550
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:19726788 PMID:22679179 PMID:25759020 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
G SMYD4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr12:47,944,220...48,009,606
Ensembl chr12:47,944,148...48,009,586
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STRADA STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,227,697
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO OMIM NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
G TP53 tumor protein p53 disease_progression ISO protein:increased expression:nucleus:
ClinVar Annotator: match by term: Medulloblastoma, somatic
RGD
ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:1302544 RGD:8547823 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TSC2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,714...72,391,648
JBrowse link
G WRN WRN RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,972...54,094,587
JBrowse link
melanoma and neural system tumor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P14ARF p14ARF protein ISO OMIM NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ALK ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD
ClinVar
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr 3:109,411,146...110,105,755 JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr11:7,371,328...7,438,111
Ensembl chr11:7,411,644...7,438,108
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO DNA:mutations,loss of heterozygosity: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23202128 RGD:13439724 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO DNA:deletion,haploinsufficiency: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23202128 RGD:13439724 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G ATRX ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr17:56,954,838...56,972,435 JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr15:117,049,483...117,135,889
Ensembl chr15:117,047,839...117,175,851
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr13:104,946,732...105,007,568 JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:15385441 PMID:16267036 PMID:25741868 PMID:26287763 PMID:26467025 More... NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr11:8,805,950...8,858,128 JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:10850450 RGD:2326181 NCBI chr 9:67,933,069...67,960,380 JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A disease_progression ISO mRNA:increased expression: : RGD PMID:24335960 RGD:9587458 NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,708...74,411,825
JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 6:67,017,410...67,086,685
Ensembl chr 6:67,017,425...67,087,043
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr17:44,048,056...44,265,472
Ensembl chr17:44,047,803...44,265,431
JBrowse link
G CHEK2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
G DBH dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:221,257,771...221,491,889
Ensembl chr 1:221,256,009...221,491,953
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:15059067 PMID:24584348 PMID:27041517 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,660...63,388,859
JBrowse link
G GNAS GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 NCBI chr 1:70,994,033...71,104,998
Ensembl chr 1:70,993,341...71,105,012
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr14:16,460,089...16,462,979
Ensembl chr14:16,460,119...16,462,735
JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IL18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:30,962,994...30,974,201
Ensembl chr16:30,963,000...30,973,907
JBrowse link
G KIF1B kinesin family member 1B susceptibility ISO ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18334619 PMID:18726616 PMID:24033266 PMID:24469107 PMID:25741868 More... NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,663,463
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LIN28B lin-28 homolog B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 PMID:23042116 NCBI chr 1:71,173,291...71,296,131
Ensembl chr 1:71,166,786...71,296,861
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,240
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 2:71,299,010...71,308,432
Ensembl chr 2:71,298,322...71,308,165
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:16051641 PMID:26822237 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890
JBrowse link
G MTFP1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr14:47,392,578...47,396,115 JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:8761367 PMID:25157968 PMID:26619011 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More... NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G NME1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr12:27,416,308...27,435,044
Ensembl chr12:27,416,337...27,436,160
JBrowse link
G NNAT neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr17:40,625,990...40,629,523 JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
CTD
ClinVar
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 severity ISO DNA:hypermethylation:promoter:CpG islands (human) RGD PMID:20018718 RGD:9590155 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8433391 PMID:16989911 RGD:5684545 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,237,930
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:16051641 PMID:26822237 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,379...30,429,882
JBrowse link
G P14ARF p14ARF protein treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15814359 PMID:24714808 RGD:10043806 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PAK4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 6:47,869,604...47,914,185
Ensembl chr 6:47,869,680...47,914,187
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:110,249,010...110,311,503
Ensembl chr  X:110,159,873...110,303,017
JBrowse link
G PHOX2B paired like homeobox 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:25174395 PMID:30127528 NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,841,396...32,846,215
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26619011 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PINK1 PTEN induced kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr 6:78,863,195...78,884,663
Ensembl chr 6:78,863,190...78,884,644
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:15240516 RGD:11535044 NCBI chr14:48,901,097...48,906,855 JBrowse link
G PSMD14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr15:68,107,379...68,208,884
Ensembl chr15:68,107,546...68,208,884
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:129,114,668...129,248,898
Ensembl chr 9:129,035,739...129,248,578
JBrowse link
G RASSF5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr 9:67,157,167...67,237,366
Ensembl chr 9:67,157,167...67,237,367
JBrowse link
G RBM15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 4:109,767,464...109,791,555
Ensembl chr 4:109,769,869...109,786,235
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha disease_progression ISO Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr 5:64,287,529...64,312,917
Ensembl chr 5:64,285,015...64,313,612
JBrowse link
G SEMA3B semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,622
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,515...64,567,025
JBrowse link
G TBX2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr12:36,878,662...36,887,513
Ensembl chr12:36,878,675...36,887,513
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,618...1,506,615
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,981,604...111,107,423
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD
ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TP73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,177,682...65,228,992
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,952
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:15059067 PMID:24584348 PMID:27041517 NCBI chr 6:298,034...316,451
Ensembl chr 6:298,036...313,366
JBrowse link
Neuroblastoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2B paired like homeobox 2B susceptibility ISO ClinVar Annotator: match by term: Neuroblastoma 2 OMIM
ClinVar
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,841,396...32,846,215
JBrowse link
Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Neuroblastoma 3 OMIM
ClinVar
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16880530 PMID:17576681 More... NCBI chr 3:109,411,146...110,105,755 JBrowse link
G CLIP4 CAP-Gly domain containing linker protein family member 4 ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 3:110,111,015...110,181,144
Ensembl chr 3:110,111,153...110,181,127
JBrowse link
G PCARE photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 3:110,209,100...110,220,608
Ensembl chr 3:110,209,535...110,218,348
JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 3:110,231,899...110,291,523 JBrowse link
G WDR43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 3:110,317,549...110,365,108
Ensembl chr 3:110,231,955...110,365,062
JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1A hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
PERITONEAL GLIOMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64) ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 4:99,233,632...99,242,531
Ensembl chr 4:99,229,307...99,242,586
JBrowse link
pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 3:109,411,146...110,105,755 JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 NCBI chr12:61,029,186...61,045,400 JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr16:79,838,442...79,862,956 JBrowse link
pineoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Pineoblastoma ClinVar PMID:19556464 PMID:21266384 PMID:24909177 PMID:25022261 PMID:25118636 More... NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,361,630...116,436,519
JBrowse link
Primitive Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EWSR1 EWS RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12162413 NCBI chr14:46,408,636...46,439,357
Ensembl chr14:46,408,053...46,442,086
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,724...131,138,236
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,789
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,113,230...5,145,634
JBrowse link
G PON1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,724
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Primitive neuroectodermal tumor ClinVar PMID:16554133 PMID:21309039 PMID:22703879 PMID:25077650 PMID:25741868 More... NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,952
JBrowse link
Primitive Peripheral Neuroectodermal Tumors 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 CTD Direct Evidence: marker/mechanism CTD PMID:15618851 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:17899372 PMID:19043619 PMID:20507642 PMID:22632462 PMID:25741868 More... NCBI chr11:8,805,950...8,858,128 JBrowse link
G CADM2 cell adhesion molecule 2 ISO mRNA, protein:decreased expression:retina RGD PMID:30320366 RGD:15092072 NCBI chr13:169,681,947...170,753,114
Ensembl chr13:169,688,940...170,752,425
JBrowse link
G DICER1 dicer 1, ribonuclease III exacerbates ISO DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,361,630...116,436,519
JBrowse link
G FANCM FA complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr 1:175,333,965...175,402,065
Ensembl chr 1:175,334,047...175,445,650
JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr14:100,927,305...100,954,781 JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:17096365 PMID:28492532 PMID:28575107 More... NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,133...19,377,917
JBrowse link
G KDM1B lysine demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr 7:13,846,283...13,902,912
Ensembl chr 7:13,845,942...13,901,263
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 More... NCBI chr11:19,216,305...19,220,913 JBrowse link
G MAX MYC associated factor X ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,120,822...89,168,270
JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:17096365 PMID:28492532 PMID:28575107 More... NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:26947005 PMID:28135145 PMID:28492532 NCBI chr 6:166,002,853...166,012,191 JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:17096365 PMID:28492532 PMID:28575107 More... NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,538
JBrowse link
G P14ARF p14ARF protein ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:23555315 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO OMIM NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G SERPINF1 serpin family F member 1 treatment ISO human protein and tumor xenograft in a mouse model RGD PMID:19832843 RGD:8554870 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SNCG synuclein gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,773...87,922,112
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:30287823 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
third ventricle chordoid glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKCA protein kinase C alpha ISO DNA:mutation:cds:c.1387G>C,p.D463H(human) RGD PMID:29476136 RGD:13782058 NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554
JBrowse link
trilateral retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinoblastoma, trilateral ClinVar PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More... NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13616
    disease of cellular proliferation 6535
      cancer 4707
        organ system cancer 4553
          nervous system cancer 990
            central nervous system cancer 690
              brain cancer 659
                supratentorial cancer 406
                  cerebrum cancer 378
                    central nervous system primitive neuroectodermal neoplasm + 0
                    cerebral hemisphere lipoma + 1
                    cerebral lymphoma 0
                    cerebral meningioma + 0
                    cerebral neuroblastoma 0
                    cerebral primitive neuroectodermal tumor 0
                    cerebral ventricle cancer + 8
                    childhood cerebral astrocytoma 0
                    frontal lobe neoplasm 0
                    malignant astrocytoma + 375
                    occipital lobe neoplasm 0
                    parietal lobe neoplasm + 0
                    temporal lobe neoplasm 0
paths to the root