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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:neuroblastoma
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Accession:DOID:769 term browser browse the term
Definition:A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)
Synonyms:exact_synonym: Neuroblastomas
 narrow_synonym: neuroblastoma susceptibility
 related_synonym: NBLST1;   NBLST4;   NBLST5;   NBLST6;   NBLST7;   neuroblastoma, susceptibility to;   neuroblastoma, susceptibility to, 1;   neuroblastoma, susceptibility to, 4;   neuroblastoma, susceptibility to, 5;   neuroblastoma, susceptibility to, 6;   neuroblastoma, susceptibility to, 7
 primary_id: MESH:D009447
 alt_id: OMIM:256700;   OMIM:613015;   OMIM:613016;   OMIM:613017;   OMIM:616792
 xref: GARD:7185;   ICD-O:M9500/3;   NCI:C121567;   NCI:C21993;   NCI:C3270;   ORDO:635
For additional species annotation, visit the Alliance of Genome Resources.


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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:28492532 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:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:17177198 PMID:17972951 PMID:18470943 PMID:19047918 PMID:19179468 PMID:21930766 PMID:23334666 PMID:23756559 PMID:23825065 PMID:24033266 PMID:25097206 PMID:25395418 PMID:26619011 PMID:27069254 PMID:27783593 PMID:28098151 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, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Neuroblastoma
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
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
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:15024693 PMID:15121777 PMID:15338462 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:24033266 PMID:25741868 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:15517393 PMID:16880530 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:25714698 PMID:25741868 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26503946 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26696773 PMID:27179218 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        Nervous System Neoplasms 1670
          peripheral nervous system neoplasm 126
            autonomic nervous system neoplasm 79
              neuroblastoma 79
                Neuroblastoma 2 1
                Neuroblastoma 3 1
                adrenal neuroblastoma + 0
                cerebral neuroblastoma 0
                differentiating neuroblastoma 0
                extracranial neuroblastoma + 0
                ganglioneuroblastoma + 4
                olfactory neuroblastoma + 1
                spinal cord neuroblastoma 0
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            Brain Neoplasms 717
              Supratentorial Neoplasms 431
                supratentorial cancer 431
                  cerebrum cancer 379
                    malignant astrocytoma 377
                      astroblastoma 233
                        Primitive Neuroectodermal Tumors 143
                          Primitive Peripheral Neuroectodermal Tumors 80
                            neuroblastoma 79
                              Neuroblastoma 2 1
                              Neuroblastoma 3 1
                              adrenal neuroblastoma + 0
                              cerebral neuroblastoma 0
                              differentiating neuroblastoma 0
                              extracranial neuroblastoma + 0
                              ganglioneuroblastoma + 4
                              olfactory neuroblastoma + 1
                              spinal cord neuroblastoma 0
paths to the root