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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:astroblastoma
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Accession:DOID:7305 term browser browse the term
Definition:A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. (DO)
Synonyms:exact_synonym: Ependymoastrocytoma;   Neuroepithelial Neoplasm;   astroblastomas;   ependymoastrocytomas;   neuroepithelial neoplasms;   neuroepithelial tumor;   neuroepithelial tumors;   polar spongioblastoma
 primary_id: MESH:D018302
 xref: GARD:10635;   NCI:C4324
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:158,152,146...158,152,224
Ensembl chr  X:158,152,146...158,152,224
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052, PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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 chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,384,632...87,390,627 JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
JBrowse link
G LOC102554746 uncharacterized LOC102554746 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,559,028...45,581,410 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,405,472...87,450,812
NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103
Ensembl chr15:39,712,861...39,742,103
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
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 chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
ganglioneuroblastoma 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: Ganglioneuroblastoma ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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 PMID:7661930, PMID:17238184 RGD:6484523 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
OMIM
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079, PMID:17476307 RGD:11038793 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
JBrowse link
G Ccnd1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:23138228, PMID:16314645 RGD:13702096 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
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 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27959697 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582
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 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Ifng interferon gamma ISS OMIM:155255 MouseDO NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19270706, PMID:19270706 RGD:9587481 NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19270706, PMID:19270706 RGD:9587481 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036
JBrowse link
G L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:19,998,776...20,097,298
Ensembl chr 1:20,022,793...20,097,099
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
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 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:71,324,365...71,342,225
Ensembl chr  X:71,324,365...71,342,225
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 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:26619011 PMID:27993330 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706, PMID:25576913 RGD:13702904 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
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 chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532, PMID:10783170 RGD:1302544 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:193,892,589...193,901,236
Ensembl chr 2:193,892,589...193,901,236
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:190,007,013...190,008,512
Ensembl chr 2:190,007,216...190,008,511
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:35,305,235...35,431,271
Ensembl chr  X:35,305,236...35,431,164
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
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 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Smo smoothened, frizzled class receptor ISO
ISS
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
ClinVar
MouseDO
PMID:19726788 PMID:22679179 PMID:25759020 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:62,191,669...62,237,939
Ensembl chr10:62,191,656...62,238,113
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Strada STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, desmoplastic
ClinVar Annotator: match by OMIM:155255
ClinVar Annotator: match by term: Medulloblastoma, desmoplastic, UMLS MESH term: Arachnoidal Cerebellar Sarcoma, Circumscribed
ClinVar
OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29641532, PMID:12068298 RGD:1599191 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:
ClinVar PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9825943 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25525159 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28915717 PMID:29025599 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721, PMID:10783170, PMID:11451203 RGD:1302544, RGD:8547823 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:28492532 NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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
ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:20576349 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21823617 PMID:21838707 PMID:21859094 PMID:21948233 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22286764 PMID:22588779 PMID:22789543 PMID:22920921 PMID:22932897 PMID:22968692 PMID:23104988 PMID:23334666 PMID:24327273 PMID:25517749 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :
CTD PMID:23202128, PMID:23202128 RGD:13439724 NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :
CTD PMID:23202128, PMID:23202128 RGD:13439724 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 9:78,297,723...78,368,777
Ensembl chr 9:78,294,834...78,369,031
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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 PMID:28492532 PMID:30883245 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 PMID:22711857 PMID:24163242 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:10850450 RGD:2326181 NCBI chr13:47,125,156...47,153,557
Ensembl chr13:47,126,741...47,154,292
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359, PMID:24714808 RGD:10043806 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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 9:11,000,869...11,027,631
Ensembl chr 9:11,001,129...11,027,506
JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:169,519,212...169,572,059
Ensembl chr 5:169,519,212...169,567,107
JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Dbh dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:15059067 PMID:24584348 PMID:27041517 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Neuroblastoma
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
ClinVar PMID:10766980 PMID:23819449 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
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 chr20:50,652,489...50,783,937
Ensembl chr20:50,652,745...50,783,937
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
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 PMID:28166811 PMID:28492532 PMID:30126838 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lin28b lin-28 homolog B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 PMID:23042116 NCBI chr20:50,482,536...50,580,273
Ensembl chr20:50,486,809...50,564,987
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:2,546,278...2,555,310
Ensembl chr12:2,548,218...2,555,164
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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 chr14:84,330,223...84,334,063
Ensembl chr14:84,330,218...84,334,066
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 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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 PMID:22789543 PMID:23042116 PMID:23334666 PMID:23500671 PMID:25174395 PMID:26523776 PMID:26619011 PMID:26733615 PMID:29379199 PMID:30127528 NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 3:154,043,873...154,046,334
Ensembl chr 3:154,043,873...154,046,330
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 PMID:16273091 PMID:16291983 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19657110 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23334666 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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 chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:16989911, PMID:8433391 RGD:5684545 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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 chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 1:85,162,462...85,201,746
Ensembl chr 1:85,162,452...85,201,757
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
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 chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pink1 PTEN induced kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 3:47,578,449...47,673,330
Ensembl chr 3:47,578,384...47,673,338
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17972951 PMID:18470943 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:21930766 PMID:23334666 PMID:23756559 PMID:23825065 PMID:24033266 PMID:25097206 PMID:25395418 PMID:26619011 PMID:27069254 PMID:27783593 PMID:28098151 PMID:28492532 PMID:30868567 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
JBrowse link
G Rassf1 Ras association domain family member 1 ISO RGD PMID:17325427, PMID:12222680 RGD:2291979, RGD:2291977 NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
JBrowse link
G Rassf5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr13:47,956,754...48,022,333
Ensembl chr13:47,956,790...48,022,333
JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 2:210,079,678...210,090,200
Ensembl chr 2:210,081,770...210,088,949
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 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Sema3b semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 8:116,353,791...116,362,655
Ensembl chr 8:116,354,073...116,361,343
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 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Tbx2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:73,278,932...73,290,764
Ensembl chr10:73,279,119...73,289,921
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
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 PMID:12826609 PMID:15814359 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:22844452 PMID:23894400 PMID:24766216 PMID:25293557 PMID:26619011 PMID:27493922 PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tp73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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 chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581
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 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:24033266 PMID:25741868 PMID:28371199 PMID:28492532 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:23104988 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24326041 PMID:24327273 PMID:24728327 PMID:25517749 PMID:25589003 PMID:25640679 PMID:25714698 PMID:25741868 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26503946 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26696773 PMID:27179218 PMID:27285993 PMID:28166811 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28756644 PMID:28975465 PMID:30982079 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
PERITONEAL GLIOMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr1a Fc fragment of IgG receptor Ia ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28960912 PMID:30097050 NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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 chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
Ensembl chr 4:85,322,296...85,350,948
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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 PMID:27153395 PMID:28492532 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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 chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
retinoblastoma 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: Retinoblastoma ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25186627 PMID:25741868 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:17899372 PMID:19043619 PMID:20507642 PMID:22632462 PMID:25741868 PMID:25782689 PMID:26467025 PMID:28492532 PMID:29394989 PMID:29884841 PMID:30254663 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cadm2 cell adhesion molecule 2 ISO mRNA, protein:decreased expression:retina RGD PMID:30320366 RGD:15092072 NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:28492532 PMID:28575107 PMID:29568217 NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
JBrowse link
G Kdm1b lysine demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr17:17,987,972...18,028,808
Ensembl chr17:17,987,972...18,028,808
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:21505449 PMID:22909775 PMID:23301675 PMID:28492532 PMID:28575107 PMID:29568217 NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:28492532 PMID:28575107 PMID:29568217 NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir182 microRNA 182 treatment IEP
IMP
miRNA:increased expression:retina RGD PMID:30320366, PMID:30320366 RGD:15092072, RGD:15092072 NCBI chr 4:57,459,773...57,459,834 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:28492532 PMID:28575107 PMID:29568217 NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
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 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinoblastoma
ClinVar Annotator: match by OMIM:180200
DNA:mutations:exon, intron:multiple
OMIM
ClinVar
PMID:1298292 PMID:1352883 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7981694 PMID:8099255 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9536098 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15166261 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20447117 PMID:20594292 PMID:20596833 PMID:21505449 PMID:21520333 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22703879 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23532519 PMID:23595191 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27879208 PMID:27983729 PMID:28193182 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28724667 PMID:28803391 PMID:28875981 PMID:29261756 PMID:29568217 PMID:30031154 PMID:31645765, PMID:12402348 RGD:8547986 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
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 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:22703879 PMID:25741868 PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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 PMID:22963398 PMID:24688104 PMID:25157968 PMID:25602518 PMID:25741868 PMID:28492532 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of cellular proliferation 6551
      Neoplasms by Histologic Type 4432
        Glandular and Epithelial Neoplasms 3087
          astroblastoma 233
            PERITONEAL GLIOMATOSIS 2
            Pinealoma + 2
            Primitive Neuroectodermal Tumors + 143
            astroblastoma, MN1-altered 0
            central neurocytoma 0
            retinoblastoma + 92
Path 2
Term Annotations click to browse term
  disease 16909
    disease of cellular proliferation 6551
      cancer 4457
        organ system cancer 4282
          nervous system cancer 1034
            central nervous system cancer 707
              brain cancer 693
                supratentorial cancer 431
                  cerebrum cancer 379
                    malignant astrocytoma 376
                      astroblastoma 233
                        PERITONEAL GLIOMATOSIS 2
                        Pinealoma + 2
                        Primitive Neuroectodermal Tumors + 143
                        astroblastoma, MN1-altered 0
                        central neurocytoma 0
                        retinoblastoma + 92
paths to the root