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
Accession: DOID:769
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.
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
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 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21804922 PMID:21838707 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:24205241 PMID:24327273 PMID:24675991 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:27132509 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
NCBI chr14:77,632,809...78,408,307
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
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
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
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
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
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
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
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
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
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:25085752 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823 PMID:31112341 PMID:31131967 PMID:31294896 PMID:31911673 PMID:33428613 PMID:33471991 PMID:33609447 More...
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
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
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
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
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
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
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
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
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
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
G
FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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 PMID:26942290 PMID:27626068 More...
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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
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
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
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
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
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
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
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
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
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
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
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 PMID:28492532 PMID:30126838 PMID:30487145 PMID:32376792 PMID:33362715 More...
NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
G
NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neuroblastoma
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:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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
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
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
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
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
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
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
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
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 PMID:28492532 More...
NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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
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
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 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:18759865 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26918529 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 PMID:32561839 PMID:36349709 More...
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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
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
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
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
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
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
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
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
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
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
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
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
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
G
TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 PMID:12826609 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:23894400 PMID:25293557 PMID:25741868 PMID:26619011 PMID:27493922 PMID:28492532 PMID:29979965 PMID:30224644 PMID:34026625 PMID:34240179 More...
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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
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
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
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
G
ZNF276
zinc finger protein 276
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr 5:75,057,541...75,073,328
Ensembl chr 5:75,057,253...75,073,023
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 PMID:20089899 PMID:23754957 PMID:23873030 More...
NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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
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 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28492532 PMID:28873162 PMID:29641532 PMID:33958749 More...
NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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 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:21972109 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24205241 PMID:24326041 PMID:24327273 PMID:24675991 PMID:24728327 PMID:25054154 PMID:25517749 PMID:25589003 PMID:25640679 PMID:25714698 PMID:25741868 PMID:25801821 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26689913 PMID:26696773 PMID:26829053 PMID:27132509 PMID:27153395 PMID:27179218 PMID:27285993 PMID:27930734 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29489754 PMID:29625052 PMID:29684080 PMID:30004444 PMID:30350464 PMID:30605844 PMID:30716324 PMID:30982079 PMID:30989433 PMID:31263571 PMID:32984025 PMID:32989326 PMID:33372952 PMID:33486679 PMID:33674381 PMID:33898318 PMID:36451132 More...
NCBI chr14:77,632,809...78,408,307
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all