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: LIM DOMAIN ONLY-1 POLYMORPHISM; 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: MIM:256700 ; MIM:613015 ; MIM:613016 ; MIM:613017 ; MIM: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 .
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761367
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD ClinVar
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:20576349 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21804922 PMID:21823617 PMID:21838707 PMID:21859094 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22286764 PMID:22588779 PMID:22789543 PMID:22920921 PMID:22932897 PMID:22968692 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 chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
mRNA, protein:increased expression:neuroblastoma (human)
RGD
PMID:18591367
RGD:2313903
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations,loss of heterozygosity: :
CTD RGD
PMID:23202128 PMID:23202128
RGD:13439724
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion,haploinsufficiency: :
CTD RGD
PMID:23202128 PMID:23202128
RGD:13439724
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666 PMID:26523776
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Aurka
aurora kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22588779
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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Bard1
BRCA1 associated RING domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412175 PMID:23334666
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Birc2
baculoviral IAP repeat-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd55
CD55 molecule (Cromer blood group)
IMP
RGD
PMID:10850450
RGD:2326181
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15814359 PMID:24714808
RGD:10043806
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chaf1a
chromatin assembly factor 1 subunit A
disease_progression
ISO
mRNA:increased expression: :
RGD
PMID:24335960 PMID:24335960
RGD:9587458 , RGD:9587458
NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
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Chd5
chromodomain helicase DNA binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
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Chd6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18577749
NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Dbh
dopamine beta-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27366082
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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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 chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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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 chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237 PMID:28492532
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20862257
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Hace1
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191
NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
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Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16051641
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814359 PMID:26121086
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16115947
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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Igf1r
insulin-like growth factor 1 receptor
ISO
protein: decreased tyrosine phosphorylation: : Y1131
RGD
PMID:17121898
RGD:7242922
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37246217
NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16428511
RGD:8655920
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Isl1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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Kif1b
kinesin family member 1B
susceptibility
ISO
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 PMID:30126838 PMID:30487145 PMID:32376792 PMID:33362715 More...
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 4:178,185,418...178,218,484
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Lin28b
lin-28 homolog B
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:22941191 PMID:23042116
NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077
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Lmo1
LIM domain only 1
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 7
ClinVar
PMID:21124317 PMID:26560027
NCBI chr 1:163,132,338...163,168,521
Ensembl chr 1:163,132,339...163,168,522
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Map2k4
mitogen activated protein kinase kinase 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Map2k7
mitogen activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15492235
NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mtfp1
mitochondrial fission process 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:27765905
RGD:12880392
NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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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 PMID:37246217 More...
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
RGD
PMID:8047138
RGD:1600229
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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Nnat
neuronatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17762496
NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834
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Nodal
nodal growth differentiation factor
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:30985990
RGD:155226876
NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
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:19966803 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:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd1
nuclear receptor binding SET domain protein 1
severity
ISO
DNA:hypermethylation:promoter:CpG islands (human)
RGD
PMID:20018718
RGD:9590155
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Nt5e
5' nucleotidase, ecto
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34773529
NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
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Ntrk1
neurotrophic receptor tyrosine kinase 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16989911 PMID:8433391
RGD:5684545
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Pak4
p21 (RAC1) activated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29048629
NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
human tumor in mouse model
RGD
PMID:22174364
RGD:6767296
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Phox2b
paired-like homeobox 2b
exacerbates
ISO
ClinVar Annotator: match by term: Neuroblastoma human cell line in a mouse model CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25174395 PMID:30127528 PMID:26840262
RGD:151667442
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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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 chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pink1
PTEN induced kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:23334666 PMID:25741868
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:15240516
RGD:11535044
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Psmd14
proteasome 26S subunit, non-ATPase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30871063
NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD 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:23334666 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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
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Rassf1
Ras association domain family member 1
ISO
RGD
PMID:17325427 PMID:12222680
RGD:2291979 , RGD:2291977
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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Rassf5
Ras association domain family member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18452173
NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024
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Rbm15
RNA binding motif protein 15
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Scnn1a
sodium channel epithelial 1 subunit alpha
disease_progression
ISO
Low levels of methylation correlate with improved survival
RGD
PMID:21314941
RGD:5509791
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:21979946 PMID:25741868 PMID:28492532
NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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Sema3b
semaphorin 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452250
NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Snrpe
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:neuroblastoma (human)
RGD
PMID:17075126
RGD:10755762
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
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Tbx2
T-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26523776
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
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:23894400 PMID:25293557 PMID:25741868 PMID:26619011 PMID:27493922 PMID:28492532 PMID:29979965 PMID:30224644 PMID:34026625 PMID:34240179 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
no_association
ISO
RGD
PMID:9288759
RGD:1599583
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Zfp276
zinc finger protein (C2H2 type) 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 chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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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 chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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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 chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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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 chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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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 chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Clip4
CAP-GLY domain containing linker protein family, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,616,280...23,697,625 NCBI chr 6:23,718,580...23,729,231 NCBI chr 6:23,597,729...23,601,000
Ensembl chr 6:23,616,281...23,677,874
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Pcare
photoreceptor cilium actin regulator
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169
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Togaram2
TOG array regulator of axonemal microtubules 2
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499
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Wdr43
WD repeat domain 43
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846
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Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:neuroblastoma (human)
RGD
PMID:18431543
RGD:8694471
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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