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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:malignant astrocytoma
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Accession:DOID:3069 term browser browse the term
Definition:A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. (DO)
Synonyms:exact_synonym: Cerebral Astrocytoma;   Childhood Cerebral Astrocytoma;   Gemistocytic Astrocytoma;   Grade I Astrocytoma;   Grade I Astrocytomas;   Grade II Astrocytoma;   anaplastic astrocytoma;   anaplastic astrocytomas;   astrocytic brain tumor;   astrocytic glioma;   astrocytic gliomas;   astrocytic tumor;   astrocytoma of brain;   astrocytoma of cerebrum;   astrocytoma, no ICD-O subtype;   astrocytomas;   astroglioma;   astrogliomas;   cerebral astrocytomas;   childhood cerebral astrocytomas;   gemistocytic astrocytomas;   grade II astrocytomas;   intracranial astrocytoma;   intracranial astrocytomas;   mixed oligoastrocytoma;   mixed oligoastrocytomas
 primary_id: MESH:D001254
 xref: NCI:C4951;   NCI:C60436;   NCI:C60781;   NCI:C6958
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 severity ISO RGD PMID:23761815 RGD:13831356 NCBI chr 7:106,404,844...106,476,902
Ensembl chr 7:106,404,958...106,476,902
JBrowse link
G Akt1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:19240976 RGD:5509079 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Akt2 AKT serine/threonine kinase 2 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Akt3 AKT serine/threonine kinase 3 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Anxa1 annexin A1 ISO associated with Tuberous Sclerosis;mRNA:increased expression:brain RGD PMID:20133820 RGD:7421564 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression
severity
ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar
RGD
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... RGD:9586026, RGD:11040585 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase onset ISO CTD Direct Evidence: marker/mechanism
DNA:rearrangement: :
DNA:mutation:cds:p.V600E(human)
CTD
RGD
PMID:23817572 PMID:19794125 PMID:25346165 RGD:11069832, RGD:11567238 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Brd7 bromodomain containing 7 severity ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:18,708,792...18,737,500
Ensembl chr19:18,709,022...18,737,494
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 severity ISO RGD PMID:21565182 RGD:14398497 NCBI chr16:18,217,404...18,220,979
Ensembl chr16:18,217,407...18,220,979
JBrowse link
G Cadm2 cell adhesion molecule 2 severity ISO protein:decreased expression:brain RGD PMID:30816549 RGD:19165125 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
JBrowse link
G Camk2g calcium/calmodulin-dependent protein kinase II gamma disease_progression ISO RGD PMID:12937144 RGD:13702480 NCBI chr15:3,504,017...3,563,050
Ensembl chr15:3,504,085...3,563,050
JBrowse link
G Ccnd1 cyclin D1 severity ISO RGD PMID:10419598 RGD:13681931 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO DNA:deletion: : RGD PMID:12241105 RGD:5490125 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.A114V (human) RGD PMID:12241105 RGD:5490125 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hras HRas proto-oncogene, GTPase ISS MouseDO NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
JBrowse link
G Kras KRAS proto-oncogene, GTPase susceptibility ISO sporadic pilocytic astrocytoma, OMIM:137800
DNA:mutation:cds:p.G12D(mouse)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23817572 PMID:16247081 PMID:24038521 RGD:1600476, RGD:13702858 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
JBrowse link
G Lats2 large tumor suppressor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr15:31,825,068...31,877,193
Ensembl chr15:31,825,092...31,877,220
JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mir155hg Mir155 host gene severity ISO RGD PMID:27764782 RGD:11571728 NCBI chr11:23,773,468...23,775,697 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
JBrowse link
G Nf1 neurofibromin 1 ISO protein:decreased expression:brain:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20176786 PMID:23817572 PMID:10973261 PMID:10931370 RGD:1302542, RGD:12743656 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 ISO protein:decreased expression,decreased activity:brain: RGD PMID:15857672 RGD:10448283 NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G RGD1306271 similar to KIAA1549 protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
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 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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 chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 4:178,185,418...178,218,484 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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:132,802,623...132,802,701 JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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 chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,893,573...79,903,438 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,479,535...36,496,069
Ensembl chr15:36,479,534...36,495,697
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,774,492...35,778,818
Ensembl chr15:35,774,326...35,779,415
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,800,077...79,806,064 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:72,698,188...73,142,707
Ensembl chr15:72,699,094...73,142,594
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,567,029...78,769,833
Ensembl chr15:78,567,023...78,769,783
JBrowse link
G LOC102554746 uncharacterized LOC102554746 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,786,992...75,797,631 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,198,475...55,203,021
Ensembl chr15:55,198,459...55,205,872
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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 4:178,185,418...178,218,484 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 chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 treatment ISO mRNA:decreased expression:brain: RGD PMID:16244591 PMID:12507886 RGD:13831352, RGD:13831355 NCBI chr 7:106,404,844...106,476,902
Ensembl chr 7:106,404,958...106,476,902
JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 treatment
severity
ISO
IEP
RGD PMID:27416955 PMID:23096411 PMID:23096411 RGD:13838664, RGD:13838665, RGD:13838665 NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO RGD PMID:10802656 RGD:734543 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Akt3 AKT serine/threonine kinase 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Aspm assembly factor for spindle microtubules ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO ClinVar Annotator: match by term: Glioblastoma multiforme, somatic ClinVar
RGD
PMID:27478330 RGD:13442489 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Bag3 BAG cochaperone 3 treatment IMP RGD PMID:21561597 RGD:5687132 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774
JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:18,708,792...18,737,500
Ensembl chr19:18,709,022...18,737,494
JBrowse link
G Cbx6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 7:111,372,979...111,383,109
Ensembl chr 7:111,372,980...111,383,091
JBrowse link
G Cbx7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
JBrowse link
G Cbx8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
JBrowse link
G Cd9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:20534551 PMID:10884881 RGD:13702095 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 treatment ISO RGD PMID:10720483 RGD:8552659
G Chaf1b chromatin assembly factor 1 subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21029458 PMID:11161003 RGD:4892621 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 disease_progression IMP RGD PMID:23360795 RGD:9685152 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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 chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Csta cystatin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Ctnnd2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 2:81,168,976...82,016,495
Ensembl chr 2:81,167,117...82,015,764
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:glioma cell (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22287159 PMID:17898873 RGD:2315515 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:25356585 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
JBrowse link
G Deup1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199
JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr 1:185,617,469...185,696,476 JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr 3:143,064,535...143,075,362 JBrowse link
G Egf epidermal growth factor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:+61A>G(human)
CTD
RGD
PMID:16598420 PMID:22481252 RGD:13702472 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD
ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More... NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fabp7 fatty acid binding protein 7 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:18079358 RGD:11049502 NCBI chr 1:95,615,056...95,620,463 JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:24,297,898...24,319,157
Ensembl chr 6:24,300,956...24,320,034
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16874663 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G H2ax H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
JBrowse link
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr13:92,533,294...92,544,903
Ensembl chr13:92,533,298...92,544,908
JBrowse link
G Heatr1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hras HRas proto-oncogene, GTPase severity ISO DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar
RGD
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... RGD:13702475, RGD:13702872 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression
onset
ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
DNA:mutation:cds:p.R132H(human)
ClinVar
RGD
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... RGD:11074562, RGD:11522732 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Il16 interleukin 16 IEP protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
JBrowse link
G Kcnc2 potassium voltage-gated channel subfamily C member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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 4:178,185,418...178,218,484 JBrowse link
G L1cam L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
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 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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 chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
JBrowse link
G Mdm2 MDM2 proto-oncogene ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mdm4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:transition:cds:p.L84F (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20131314 PMID:22162573 PMID:14669534 RGD:2317667 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir21 microRNA 21 ameliorates IMP RGD PMID:31730913 RGD:41404645 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16598420 PMID:7616276 RGD:7207145 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment
ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16598420 PMID:7616276 PMID:12439751 RGD:7207145, RGD:8547973 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Glioblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Ndrg4 NDRG family member 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Nfkbia NFKB inhibitor alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::
DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar
RGD
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... RGD:13702876, RGD:13702875 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21210235 RGD:6482799 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21858729 RGD:6771207 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Pgf placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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 chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta disease_progression ISO RGD PMID:26956052 PMID:21188471 RGD:11343921, RGD:13782050 NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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 chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:29352080 NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
G Polk DNA polymerase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313
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 chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr 1:48,688,651...49,882,520 JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar
RGD
PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... RGD:2290476 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO
IEP
protein:increased expression:microglia, macrophage, RGD PMID:11121536 PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO
IEP
protein:increased expression:endothelial cell RGD PMID:11121536 PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Rb1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Rpl35a ribosomal protein L35a ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077
G Rpl5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Septin14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299
JBrowse link
G Serping1 serpin family G member 1 treatment IMP RGD PMID:28880870 RGD:13525003 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
JBrowse link
G Slc22a22 solute carrier family 22 (organic cation transporter), member 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
JBrowse link
G Srrt serrate, RNA effector molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr12:19,392,578...19,406,098 JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
JBrowse link
G Tes testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829
JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
JBrowse link
G Tmem135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171
JBrowse link
G Tnc tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
JBrowse link
G Tp53 tumor protein p53 ISO
ISS
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
MouseDO
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
JBrowse link
G Trmt11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 severity ISO mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
JBrowse link
G Cyp2c24 cytochrome P450, family 2, subfamily c, polypeptide 24 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 1:236,873,967...236,936,238
Ensembl chr 1:236,873,967...236,936,238
JBrowse link
G Plau plasminogen activator, urokinase severity ISO mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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 null ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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 associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
OMIM
ClinVar
RGD
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 More... RGD:11038793 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Ccnd1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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 chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
OMIM
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:9,479,532...9,493,455
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar
PMID:32296180 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Ifng interferon gamma ISS OMIM:155255 MouseDO NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 9:1,158,737...1,237,228
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
JBrowse link
G L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:18,988,763...19,089,247
Ensembl chr 1:18,990,618...19,089,263
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
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 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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 chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO
ISS
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
ClinVar
MouseDO
RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:60,200,067...60,246,387
Ensembl chr10:60,200,114...60,246,387
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Strada STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Medulloblastoma, desmoplastic
ClinVar Annotator: match by term: Medulloblastoma with extensive nodularity
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by OMIM:155255
ClinVar
OMIM
RGD
PMID:12068298 PMID:16199547 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:1599191 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:1302544, RGD:8547823 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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 chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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 Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome
OMIM
ClinVar
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8570179 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by OMIM:613014
ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :
CTD
RGD
PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :
CTD
RGD
PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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 chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:18951446 PMID:19043619 PMID:20127978 PMID:21702907 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:10850450 RGD:2326181 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15814359 PMID:24714808 RGD:10043806 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A disease_progression ISO mRNA:increased expression: : RGD PMID:24335960 PMID:24335960 RGD:9587458, RGD:9587458 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Dbh dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:15059067 PMID:24584348 PMID:27041517 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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 chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
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 chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:32,917,826...32,919,880
Ensembl chr16:32,917,823...32,919,891
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
JBrowse link
G Kif1b kinesin family member 1B susceptibility ISO ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:256700
ClinVar
CTD
OMIM
PMID:18334619 PMID:18726616 PMID:24033266 PMID:24469107 PMID:25741868 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lin28b lin-28 homolog B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 PMID:23042116 NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:2,591,312...2,604,211
Ensembl chr12:2,591,219...2,604,222
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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 chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mtfp1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
CTD
ClinVar
PMID:8761367 PMID:25157968 PMID:26619011 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834
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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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 chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25174395 PMID:30127528 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26619011 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pink1 PTEN induced kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:15240516 RGD:11535044 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
CTD
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
JBrowse link
G Rassf1 Ras association domain family member 1 ISO RGD PMID:17325427 PMID:12222680 RGD:2291979, RGD:2291977 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G Rassf5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024
JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 2:194,945,717...194,954,523
Ensembl chr 2:194,945,974...194,954,703
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 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Sema3b semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
JBrowse link
G Tbx2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:15059067 PMID:24584348 PMID:27041517 NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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 ClinVar
OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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 ClinVar
OMIM
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16880530 PMID:17576681 More... NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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 6:23,616,280...23,697,625
Ensembl chr 6:23,616,281...23,677,874
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 6:23,749,700...23,758,419
Ensembl chr 6:23,749,757...23,758,169
JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499
JBrowse link
G Wdr43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar PMID:28492532 NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846
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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
PERITONEAL GLIOMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr1a Fc gamma receptor Ia ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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 4:178,185,418...178,218,484 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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 chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO mRNA, protein:decreased expression:retina RGD PMID:30320366 RGD:15092072 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Dicer1 dicer 1 ribonuclease III exacerbates ISO DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Kdm1b lysine demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800
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 chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:95,636,857...95,662,204
Ensembl chr 6:95,636,858...95,662,137
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 chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir182 microRNA 182 treatment IEP
IMP
miRNA:increased expression:retina RGD PMID:30320366 PMID:30320366 RGD:15092072, RGD:15092072 NCBI chr 4:58,784,818...58,784,879 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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 chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
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 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinoblastoma
ClinVar Annotator: match by term: Eye cancer, retinoblastoma
ClinVar Annotator: match by OMIM:180200
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
RGD
PMID:1298292 PMID:1352883 PMID:1534305 PMID:1881452 PMID:2181449 More... RGD:8547986 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Histologic Type 4778
        cell type cancer 3413
          high grade glioma 626
            malignant astrocytoma 386
              Adult Cerebral Astrocytoma 1
              Desmoplastic Cerebral Astrocytoma of Infancy 0
              adult astrocytic tumour + 0
              anaplastic astrocytoma + 3
              anaplastic pleomorphic xanthoastrocytoma + 0
              astroblastoma + 240
              brain stem astrocytic neoplasm 0
              cerebellar astrocytoma + 1
              childhood astrocytic tumor + 0
              diencephalic astrocytoma 0
              fibrillary astrocytoma 1
              gemistocytic astrocytoma 0
              glioblastoma + 154
              gliofibroma 0
              melanoma and neural system tumor syndrome 1
              optic nerve astrocytoma + 0
              pilocytic astrocytoma + 8
              pineal gland astrocytoma 0
              protoplasmic astrocytoma 0
              spinal cord astrocytoma 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        Nervous System Neoplasms 1693
          Central Nervous System Neoplasms 1367
            central nervous system cancer 736
              brain cancer 703
                supratentorial cancer 442
                  cerebrum cancer 390
                    malignant astrocytoma 386
                      Adult Cerebral Astrocytoma 1
                      Desmoplastic Cerebral Astrocytoma of Infancy 0
                      adult astrocytic tumour + 0
                      anaplastic astrocytoma + 3
                      anaplastic pleomorphic xanthoastrocytoma + 0
                      astroblastoma + 240
                      brain stem astrocytic neoplasm 0
                      cerebellar astrocytoma + 1
                      childhood astrocytic tumor + 0
                      diencephalic astrocytoma 0
                      fibrillary astrocytoma 1
                      gemistocytic astrocytoma 0
                      glioblastoma + 154
                      gliofibroma 0
                      melanoma and neural system tumor syndrome 1
                      optic nerve astrocytoma + 0
                      pilocytic astrocytoma + 8
                      pineal gland astrocytoma 0
                      protoplasmic astrocytoma 0
                      spinal cord astrocytoma 0
paths to the root