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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
 broad_synonym: KIF1B-RELATED CONDITION
 related_synonym: LIM DOMAIN ONLY-1 POLYMORPHISM;   LMO1 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.


show annotations for term's descendants           Sort by:
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135 		JBrowse link
G 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:20576349 PMID:21823617 PMID:21859094 PMID:22072639 PMID:22286764 More... NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:28,632,197...29,349,721 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr12:10,785,254...10,809,295
Ensembl chr12:10,785,257...10,817,038 		JBrowse link
G 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 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G 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 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:181,546,742...181,562,771 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:80,069,960...80,176,873 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:13,253,706...13,271,911 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590 		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 chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:109,612,054...109,699,424 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:10850450 RGD:2326181 NCBI chr13:44,409,574...44,438,913
Ensembl chr13:44,409,587...44,438,107 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15814359 PMID:24714808 RGD:10043806 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248 		JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A disease_progression ISO mRNA:increased expression: : RGD PMID:24335960 PMID:24335960 RGD:9587458, RGD:9587458 NCBI chr 9:961,225...987,825
Ensembl chr 9:961,084...987,868 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:168,130,851...168,181,705
Ensembl chr 5:168,130,575...168,179,441 		JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 3:170,016,204...170,177,480
Ensembl chr 3:170,016,204...170,177,558 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr12:51,448,838...51,481,159
Ensembl chr12:51,449,140...51,480,667 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:30,886,328...30,903,316 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 1:43,511,685...43,904,454
Ensembl chr 1:43,644,392...43,900,354 		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 chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 NCBI chr20:50,618,004...50,733,460
Ensembl chr20:50,618,004...50,733,466 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:37,928,145...37,931,488
Ensembl chr16:37,928,145...37,931,488 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590 		JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:130,959,997...131,248,664 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr10:81,405,021...81,447,814
Ensembl chr10:81,404,797...81,447,846 		JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:49,813,618...49,823,442
Ensembl chr 2:49,813,618...49,823,442 		JBrowse link
G Kif1b kinesin family member 1B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KIF1B-related condition | ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 		CTD
ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18334619 PMID:24033266 PMID:24469107 More... NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:164,894,763...165,008,841 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Lin28b lin-28 homolog B ISO
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22941191 PMID:23042116 NCBI chr20:50,447,700...50,547,135
Ensembl chr20:50,450,971...50,541,968 		JBrowse link
G Lmo1 LIM domain only 1 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 7 ClinVar PMID:21124317 PMID:26560027 NCBI chr 1:172,567,156...172,603,282
Ensembl chr 1:172,567,156...172,603,157 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,844,034...50,947,185 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:7,389,032...7,398,377
Ensembl chr12:7,389,155...7,398,377 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma 		CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,006...7,689
Ensembl chr MT:6,991...7,674 		JBrowse link
G Mtfp1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr14:83,192,013...83,195,853
Ensembl chr14:83,192,021...83,195,927 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:17,759,309...17,792,547 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 PMID:34626302 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma 		CTD
ClinVar		 PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More... NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		JBrowse link
G Nkain2 sodium/potassium transporting ATPase interacting 2 severity ISO RGD PMID:24205241 RGD:596938168 NCBI chr 1:26,488,381...27,696,134
Ensembl chr 1:26,488,223...27,696,113 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr10:79,403,939...79,426,620
Ensembl chr10:79,403,940...79,413,310 		JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 3:166,646,373...166,648,845
Ensembl chr 3:166,646,384...166,649,086 		JBrowse link
G Nodal nodal growth differentiation factor ISO mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr20:29,911,258...29,919,659
Ensembl chr20:29,911,258...29,919,659 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 severity ISO DNA:hypermethylation:promoter:CpG islands (human) RGD PMID:20018718 RGD:9590155 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 8:98,150,925...98,195,646
Ensembl chr 8:98,150,900...98,195,645 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma 		CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628 		JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 1:92,977,437...93,016,721
Ensembl chr 1:92,977,437...93,016,721 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:137,576,214...137,619,297
Ensembl chr  X:137,576,235...137,615,914 		JBrowse link
G 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 chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494 		JBrowse link
G 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 5:155,813,838...155,825,950
Ensembl chr 5:155,813,838...155,825,950 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:15240516 RGD:11535044 NCBI chr  X:102,862,457...102,867,725
Ensembl chr  X:102,861,881...102,870,708 		JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 3:66,662,933...66,755,666
Ensembl chr 3:66,662,900...66,755,665 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr13:103,799,473...103,951,708
Ensembl chr13:103,799,494...103,951,708 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO RGD PMID:17325427 PMID:12222680 RGD:2291979, RGD:2291977 NCBI chr 8:117,103,665...117,114,805
Ensembl chr 8:117,103,362...117,114,805 		JBrowse link
G Rassf5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr13:45,189,768...45,255,277
Ensembl chr13:45,189,804...45,255,277 		JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 2:197,634,174...197,642,697
Ensembl chr 2:197,583,002...197,643,037 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha disease_progression ISO Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr13:86,077,133...86,098,025
Ensembl chr13:86,077,134...86,098,044 		JBrowse link
G Sema3b semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 8:117,150,307...117,161,570
Ensembl chr 8:117,150,589...117,157,658 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr13:47,596,324...47,609,390
Ensembl chr 8:129,294,325...129,294,603
Ensembl chr13:129,294,325...129,294,603 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:71,177,082...71,186,275
Ensembl chr10:71,177,082...71,186,275 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 2:112,136,550...112,155,903 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tp73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:32,367,670...32,416,568 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:14,125,680...14,160,600 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:13,380,551...13,451,437 		JBrowse link
G 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 More... NCBI chr19:68,199,709...68,212,757
Ensembl chr19:68,199,265...68,212,757 		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: Neuroblastoma with Hirschsprung disease ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494 		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:18470948 PMID:20301770 PMID:25741868 PMID:28492532 PMID:30573562 More... NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508 		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 Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 		ClinVar
OMIM		 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15024693 PMID:15121777 More... NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,420,011...41,424,494 		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, susceptibility to, 3 OMIM
ClinVar		 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 PMID:17576681 More... NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:28,632,197...29,349,721 		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 chr 6:29,359,628...29,449,365
NCBI chr 6:29,349,245...29,351,890
Ensembl chr 6:29,348,918...29,449,271 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		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 chr 6:29,491,183...29,549,004
Ensembl chr 6:29,491,040...29,548,977 		JBrowse link
G Wdr43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:29,565,610...29,604,954
Ensembl chr 6:29,565,610...29,604,954 		JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Neoplasms by Site 7344
        Nervous System Neoplasms 1586
          peripheral nervous system neoplasm 193
            autonomic nervous system neoplasm 94
              neuroblastoma 94
                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 19167
    disease of cellular proliferation 7905
      cancer 5732
        organ system cancer 5479
          nervous system cancer 926
            central nervous system cancer 734
              brain cancer 717
                supratentorial cancer 511
                  cerebrum cancer 458
                    malignant astrocytoma 454
                      astroblastoma 286
                        Primitive Neuroectodermal Tumors 194
                          Primitive Peripheral Neuroectodermal Tumors 95
                            Neuroblastic Tumor 94
                              neuroblastoma 94
                                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
paths to the root