Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4830
Gene Symbol: NME1
NME1
0.100 GeneticVariation disease BEFREE Compared with its wild-type, NDPK-A(S120G) appears more effective in promoting neuroblastoma metastasis. 15280446 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.100 GeneticVariation disease BEFREE Our analysis of melanoma cell lines suggests that activating mutations in BRAF can occur simultaneously with inactivation of phosphatase and tensin homolog (PTEN), but neuroblastoma RAS (NRAS) mutations are not coincident. 16417231 2006
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.100 GeneticVariation disease BEFREE PHOX2B plays a key function in the development of neural crest derivatives, and heterozygous mutations cause a complex dysautonomia associating HSCR, Congenital Central Hypoventilation Syndrome (CCHS) and neuroblastoma (NB) in various combinations. 23342068 2013
Entrez Id: 4830
Gene Symbol: NME1
NME1
0.100 GeneticVariation disease BEFREE Aggregation of the neuroblastoma-associated mutant (S120G) of the human nucleoside diphosphate kinase-A/NM23-H1 into amyloid fibrils. 21484438 2011
Entrez Id: 238
Gene Symbol: ALK
ALK
0.100 GeneticVariation disease BEFREE Bellini and colleagues demonstrate the importance of next-generation sequencing to uncover subclonal anaplastic lymphoma kinase (ALK) mutations in neuroblastoma. 26362998 2015
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE However, the expression of the G2019S LRRK2 mutation in both fibroblast and neuroblastoma cells was associated with mitochondrial uncoupling. 22736029 2012
Entrez Id: 4004
Gene Symbol: LMO1
LMO1
0.100 GeneticVariation disease BEFREE An integrative genomics study revealed that LIM domain only 1 (LMO1) encoding a transcriptional regulator to be an NB-susceptibility gene with a tumor-promoting activity, that needs to be revealed. 29695398 2018
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
0.100 GeneticVariation disease BEFREE This case highlights the need to consider neuroblastoma in patients with CCHS and the longest PHOX2B PARMs and to individualize treatment based on co-morbidities. 26011159 2015
Entrez Id: 238
Gene Symbol: ALK
ALK
0.100 GeneticVariation disease BEFREE Here, we report similar basal patterns of ALK phosphorylation between the neuroblastoma IMR-32 cell line, which expresses only the wild-type receptor (ALK(WT)), and the SH-SY5Y cell line, which exhibits a heterozygous ALK F1174L mutation and expresses both ALK(WT) and ALK(F1174L) receptors. 22479414 2012
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 GeneticVariation disease BEFREE About 30% of neuroblastoma (NB) tumors present MYCN amplification/over-expression, which is associated with rapid progression and poor prognosis. 15975048 2005
Entrez Id: 351
Gene Symbol: APP
APP
0.100 GeneticVariation disease BEFREE COS-1 cells doubly transfected with cDNAs for N141I mutant PS2 and human beta-amyloid precursor protein (betaAPP) or a C-terminal fragment thereof, as well as mouse Neuro2a neuroblastoma cells stably transfected with N141I mutant PS2 alone, secreted 1.5- to 10-fold more A beta ending at residues 42 (or 43) [A beta42(43)] compared with those expressing the wild-type PS2. 9050898 1997
Entrez Id: 5609
Gene Symbol: MAP2K7
MAP2K7
0.100 GeneticVariation disease BEFREE In neuroblastoma cell lines, we also detected a high frequency of activating mutations in the RAS-MAPK pathway (11/18; 61%), and these lesions predicted sensitivity to MEK inhibition in vitro and in vivo. 26121087 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.100 GeneticVariation disease BEFREE For this, we established SH-SY5Y neuroblastoma cell lines stably transfected with wild-type PS1 or either the PS1 exon 9 deletion (deltaE9) or PS1 L250S mutants. 10658639 2000
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 GeneticVariation disease BEFREE Evaluations of N-myc gene amplification and DNA ploidy are complementary, and the combined determination of these two factors may be one of the most powerful prognostic indicators in neuroblastoma. 8402501 1993
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 GeneticVariation disease BEFREE We identified novel ALK fusions in a neuroblastoma (BEND5-ALK) and an astrocytoma (PPP1CB-ALK), novel BRAF fusions in an astrocytoma (BCAS1-BRAF) and a ganglioglioma (TMEM106B-BRAF), and a novel PAX3-GLI2 fusion in a rhabdomyosarcoma. 28069802 2017
Entrez Id: 351
Gene Symbol: APP
APP
0.100 GeneticVariation disease BEFREE We investigated the effect of the familial AD APP (Amyloid precursor protein) K670N/M671L double mutation, APP Swedish mutation (APPswe), on the expression of 5-HT1B, SERT, MAOA, p11 and 5-HT and its metabolite 5-HIAA in SH-SY5Y human neuroblastoma cell line stably transfected with APPswe mutation. 25841787 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE In pediatric solid tumors, such as neuroblastoma (NB), it has been reported that the frequency of TP53 gene alterations is lower than that in adult tumors, suggesting that other tumor suppressor genes may play more important roles in the development of pediatric solid tumors. 15942682 2005
Entrez Id: 2026
Gene Symbol: ENO2
ENO2
0.100 GeneticVariation disease BEFREE Nonmyogenic markers included: vimentin (100%), CD99 (16%), p53 (16%), pancytokeratin (10%), NSE (8%), LCA (6%), CD20 (6%), EMA (2%), and NB-84 (0%, neuroblastoma). 12110339 2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.100 GeneticVariation disease BEFREE We demonstrated that expression of the fully active G93A Cu,Zn superoxide dismutase mutant in neuroblastoma cells is associated with an increased level of oxidatively modified proteins, in terms of carbonylated residues. 12753090 2003
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.100 GeneticVariation disease BEFREE We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells. 17403032 2007
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
0.100 GeneticVariation disease BEFREE Novel Mesenchymal Stem Cell Delivery System as Targeted Therapy Against Neuroblastoma Using the TH-MYCN Mouse Model. 31627888 2019
Entrez Id: 580
Gene Symbol: BARD1
BARD1
0.100 GeneticVariation disease BEFREE Common BARD1 SNPs affect risk of neuroblastoma in African-Americans. 22328350 2012
Entrez Id: 351
Gene Symbol: APP
APP
0.100 GeneticVariation disease BEFREE The present study evaluates the impact of neurosteroids belonging to the sex hormone family (progesterone, estradiol, estrone, testosterone, 3α-androstanediol) on mitochondrial dysfunction in cellular models of AD: human neuroblastoma cells (SH-SY5Y) stably transfected with constructs encoding (1) the human amyloid precursor protein (APP) resulting in overexpression of APP and Aβ, (2) wild-type tau (wtTau), and (3) mutant tau (P301L), that induces abnormal tau hyperphosphorylation. 26198711 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 GeneticVariation disease BEFREE Three KRAS [Kirsten rat sarcoma viral oncogene homolog] mutations, 1 BRAF (v-Raf murine sarcoma viral oncogene homolog B1) mutation, and 1 NRAS (neuroblastoma RAS viral oncogene homolog) mutation were identified in the remaining lung adenocarcinomas. 26682952 2016
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.100 GeneticVariation disease BEFREE Statistically significantly more neuroblastoma-bearing MYCN-transgenic mice were found in groups with zero or one clusterin allele than in those with two clusterin alleles (eg, 12 tumor-bearing mice in the zero-allele group vs three in the two-allele group, n = 22 mice per group; relative risk for neuroblastoma development = 4.85, 95% confidence interval [CI] = 1.69 to 14.00; P = .005). 19401549 2009