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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:An autonomic nervous system neoplasm that derives_from immature nerve cells. (DO)
Synonyms:exact_synonym: neuroblastomas
 related_synonym: NBLST1;   NBLST4;   NBLST5;   NBLST6;   NBLST7;   neuroblastoma susceptibility;   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: EFO:0000621;   GARD:7185;   ICD-O:M9500/3;   NCI:C121567;   NCI:C21993;   NCI:C3270;   ORDO:635
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for the selected species.

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neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
JBrowse link
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility ClinVar PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr14:77,632,809...78,408,307 JBrowse link
G ALOX5AP arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr 3:9,618,030...9,642,990
Ensembl chr 3:9,617,949...9,643,184
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO DNA:mutations,loss of heterozygosity: :
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23202128 RGD:13439724 NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :
CTD
RGD
PMID:23202128 RGD:13439724 NCBI chr13:84,351,298...84,799,691 JBrowse link
G ATRX ATRX chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:66,449,830...66,737,220
Ensembl chr  X:66,448,449...66,737,164
JBrowse link
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395
JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr10:100,539,827...100,627,718
Ensembl chr10:100,539,527...100,627,675
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:93,721,449...93,746,638 JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:93,692,239...93,711,905 JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
JBrowse link
G CD44 CD44 molecule (IN blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416
JBrowse link
G CD55 CD55 molecule (Cromer blood group) ISO RGD PMID:10850450 RGD:2326181 NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A disease_progression ISO mRNA:increased expression: : RGD PMID:24335960 RGD:9587458 NCBI chr 6:4,134,405...4,174,281
Ensembl chr 6:4,137,738...4,174,988
JBrowse link
G CHD5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr20:125,558,640...125,635,748
Ensembl chr20:125,558,713...125,631,277
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 2:22,163,836...22,373,098
Ensembl chr 2:22,223,919...22,373,275
JBrowse link
G CHEK2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792
JBrowse link
G DBH dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr12:4,474,041...4,498,942
Ensembl chr12:4,474,958...4,498,910
JBrowse link
G DOCK8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164
JBrowse link
G ESR1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064
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 chr13:68,932,866...69,059,126
Ensembl chr13:68,932,824...69,061,053
JBrowse link
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 7:119,635,697...119,639,415
Ensembl chr 7:119,634,741...119,638,546
JBrowse link
G HGF hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr16:69,405,923...69,461,613
Ensembl chr16:69,406,549...69,459,175
JBrowse link
G IL18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G ISL1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552
JBrowse link
G KIF1B kinesin family member 1B susceptibility ISO ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 ClinVar
OMIM
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More... NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
JBrowse link
G LIN28B lin-28 homolog B ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:22941191 PMID:23042116 NCBI chr13:68,721,209...68,859,257
Ensembl chr13:68,725,392...68,839,811
JBrowse link
G LOC103219825 protein patched homolog 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
JBrowse link
G LOC103242912 nucleoside diphosphate kinase A ISO RGD PMID:8047138 RGD:1600229 NCBI chr16:42,186,039...42,195,608
Ensembl chr16:42,185,260...42,195,616
JBrowse link
G LOC103243509 neuroendocrine secretory protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125
JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G MTFP1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr19:13,305,752...13,309,158
Ensembl chr19:13,305,888...13,309,164
JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26619011 NCBI chr14:91,685,376...91,692,091 JBrowse link
G NNAT neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 2:26,229,765...26,232,249
Ensembl chr 2:26,230,696...26,232,127
JBrowse link
G NODAL nodal growth differentiation factor ISO mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr 9:60,852,567...60,863,225
Ensembl chr 9:60,853,763...60,862,839
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More... NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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 chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820
JBrowse link
G NT5E 5'-nucleotidase ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr13:10,115,591...10,162,178
Ensembl chr13:10,116,161...10,160,414
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:8433391 PMID:16989911 RGD:5684545 NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364
JBrowse link
G PAK4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 6:33,715,695...33,769,272
Ensembl chr 6:33,759,462...33,770,497
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999
JBrowse link
G PHF6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:109,531,700...109,595,136
Ensembl chr  X:109,531,726...109,593,854
JBrowse link
G PHOX2B paired like homeobox 2B exacerbates ISO human cell line in a mouse model
ClinVar Annotator: match by term: Neuroblastoma
RGD
ClinVar
PMID:26840262 RGD:151667442 NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
JBrowse link
G PINK1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr20:111,902,135...111,919,082
Ensembl chr20:111,902,765...111,919,069
JBrowse link
G PSMD14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr10:46,703,876...46,814,938
Ensembl chr10:46,704,098...46,815,132
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More... NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr25:15,023,914...15,228,680
Ensembl chr25:15,110,687...15,219,492
JBrowse link
G RASSF5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr25:22,775,917...22,854,739
Ensembl chr25:22,774,661...22,807,353
JBrowse link
G RBM15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr20:23,191,916...23,200,626
Ensembl chr20:23,193,349...23,199,524
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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 chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr20:2,613,618...2,658,374 JBrowse link
G SEMA3B semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418
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 6:9,943,162...10,044,476 JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr25:25,474,620...25,483,427 JBrowse link
G TBX2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More... NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TP73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808
JBrowse link
G ZNF276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr 5:75,057,541...75,073,328
Ensembl chr 5:75,057,253...75,073,023
JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar
PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr14:91,685,376...91,692,091 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, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 ClinVar
OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 OMIM
ClinVar
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More... NCBI chr14:77,632,809...78,408,307 JBrowse link
G CLIP4 CAP-Gly domain containing linker protein family member 4 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:78,415,593...78,504,484
Ensembl chr14:78,414,487...78,478,938
JBrowse link
G PCARE photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:78,528,526...78,540,067 JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:78,551,667...78,623,546
Ensembl chr14:78,551,807...78,609,848
JBrowse link
G WDR43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr14:78,653,957...78,714,353 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 chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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Path 1
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  disease 15274
    disease of cellular proliferation 7181
      Neoplasms by Site 6661
        Nervous System Neoplasms 1552
          peripheral nervous system neoplasm 167
            autonomic nervous system neoplasm 89
              neuroblastoma 89
                Megalencephaly-Polydactyly Syndrome 1
                Neuroblastoma 2 1
                Neuroblastoma 3 5
                adrenal neuroblastoma + 0
                central nervous system neuroblastoma + 0
                cerebral neuroblastoma 0
                differentiating neuroblastoma 0
                dopaminergic neuroblastoma 0
                extracranial neuroblastoma + 0
                ganglioneuroblastoma + 1
                olfactory neuroblastoma + 1
                spinal cord neuroblastoma 0
Path 2
Term Annotations click to browse term
  disease 15274
    disease of cellular proliferation 7181
      cancer 5230
        organ system cancer 5005
          nervous system cancer 911
            central nervous system cancer 751
              brain cancer 738
                supratentorial cancer 475
                  cerebrum cancer 446
                    malignant astrocytoma 442
                      astroblastoma 284
                        Primitive Neuroectodermal Tumors 193
                          Primitive Peripheral Neuroectodermal Tumors 90
                            Neuroblastic Tumor 89
                              neuroblastoma 89
                                Megalencephaly-Polydactyly Syndrome 1
                                Neuroblastoma 2 1
                                Neuroblastoma 3 5
                                adrenal neuroblastoma + 0
                                central nervous system neuroblastoma + 0
                                cerebral neuroblastoma 0
                                differentiating neuroblastoma 0
                                dopaminergic neuroblastoma 0
                                extracranial neuroblastoma + 0
                                ganglioneuroblastoma + 1
                                olfactory neuroblastoma + 1
                                spinal cord neuroblastoma 0
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