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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Neuroblastic tumor
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Accession:HP:0004376 term browser browse the term
Definition:A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.
Comment:Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
Synonyms:exact_synonym: Neuroblastic tumour
 xref: UMLS:C1334953


show annotations for term's descendants           Sort by:
Ganglioneuroblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDNF brain derived neurotrophic factor IAGP HPO NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G EDN3 endothelin 3 IAGP HPO NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MYO1H myosin IH IAGP HPO NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
Localized neuroblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G TUBB tubulin beta class I IAGP HPO NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
Neuroblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ASCL1 achaete-scute family bHLH transcription factor 1 IAGP HPO NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513 		JBrowse link
G BDNF brain derived neurotrophic factor IAGP HPO NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP HPO NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,601...86,932,825 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G EDN3 endothelin 3 IAGP HPO NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G EPCAM epithelial cell adhesion molecule IAGP HPO NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:27041517 More... NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GDNF glial cell derived neurotrophic factor IAGP HPO NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G GPC3 glypican 3 IAGP HPO NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Neuroblastoma HPO
ClinVar		 PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More... NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC112577475 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110883828-110884393 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 1:110,341,206...110,341,771 JBrowse link
G LOC126805614 BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:10,325,488...10,326,687 JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MLH1 mutL homolog 1 IAGP HPO NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,350...37,050,846 		JBrowse link
G MLH3 mutL homolog 3 IAGP HPO NCBI chr14:75,013,775...75,051,467
Ensembl chr14:75,013,769...75,051,532 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MSH2 mutS homolog 2 IAGP HPO NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146 		JBrowse link
G MSH6 mutS homolog 6 IAGP HPO NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26619011 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G MYCNOS MYCN opposite strand IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26619011 NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249 		JBrowse link
G MYO1H myosin IH IAGP HPO NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
G NUTM1 NUT midline carcinoma family member 1 IAGP HPO NCBI chr15:34,343,315...34,357,735
Ensembl chr15:34,343,315...34,357,737 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PDPN podoplanin IAGP HPO NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PHF6 PHD finger protein 6 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:134,373,312...134,428,790
Ensembl chr  X:134,373,288...134,428,791 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: Neuroblastoma HPO
ClinVar		 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Neuroblastoma HPO
ClinVar		 PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component IAGP HPO NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component IAGP HPO NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Neuroblastoma HPO
ClinVar		 PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBM15 RNA binding motif protein 15 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 1:110,339,377...110,346,677
Ensembl chr 1:110,338,506...110,346,681 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RET ret proto-oncogene IAGP HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP HPO NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SEMA4A semaphorin 4A IAGP HPO NCBI chr 1:156,147,373...156,177,744
Ensembl chr 1:156,147,366...156,177,752 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,601...30,694,142 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZNF276 zinc finger protein 276 IAGP ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:27041517 More... NCBI chr16:89,720,368...89,740,925
Ensembl chr16:89,720,400...89,740,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of the nervous system 11458
        Abnormal nervous system morphology 4266
          Morphological central nervous system abnormality 4119
            Neoplasm of the central nervous system 998
              Malignant neoplasm of the central nervous system 929
                Neuroblastic tumor 76
                  Neuroblastoma + 76
paths to the root