Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation BEFREE With the purpose to evaluate the association between LIN28B gene polymorphisms and neuroblastoma susceptibility in Southern Chinese population, we conducted this study with 256 neuroblastoma cases and 531 cancer-free controls. 27021521

2016

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation BEFREE We also found that the combination of polymorphisms in CASC15, LIN28B, and LMO1 may be used to predict neuroblastoma risk (AUC=0.63, 95% CI=0.59-0.67). 29024823

2017

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation BEFREE Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression. 22941191

2012

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation GWASCAT Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma. 28545128

2017

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation BEFREE In a genome-wide association study, we identified single-nucleotide polymorphisms (SNP) associated with neuroblastoma at the CASC15, BARD1, LMO1, DUSP12, HSD17B12, HACE1, and LIN28B gene loci, but these explain only a small fraction of neuroblastoma heritability. 25312269

2014

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation BEFREE Several neuroblastoma (NB) susceptibility loci have been identified within LINC00340, BARD1, LMO1, DUSP12, HSD17B12, DDX4, IL31RA, HACE1 and LIN28B by genome-wide association (GWA) studies including European American individuals. 23222812

2013

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation GWASCAT Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression. 22941191

2012

Entrez Id: 389421
Gene Symbol: LIN28B
LIN28B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.900 GeneticVariation GWASDB Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression. 22941191

2012

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE For instance, discoveries in familial NBL have identified genetic aberrations in Phox2b and Alk that predispose to NBL, while advances in epigenetics and MYCN regulation have also offered insight into NBL pathogenesis and future treatment. 21922652

2012

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE We did not find any conclusive association of the polymorphisms or mutations in PHOX2b with the development of NB, although the large confidence intervals neither substantiate nor exclude a role for this gene in the tumor etiology. 19011468

2008

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE We also report a germline PHOX2B mutation in one patient treated for Hirschsprung's disease who subsequently developed a multifocal neuroblastoma in infancy. 15949893

2005

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Recent studies have shown that 1) PHOX2B is the main disease-causing gene for congenital central hypoventilation syndrome, an autosomal dominant disorder with incomplete penetrance; 2) PHOX2B is the first gene for which germline mutations have been demonstrated to predispose to neuroblastoma; and 3) Hirschsprung disease was associated with an intronic single-nucleotide polymorphism of the PHOX2B gene in a case-control study. 15901893

2005

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation 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: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Heterozygous germline mutations and deletions in PHOX2B, a key regulator of autonomic neuron development, predispose to neuroblastoma, a tumor of the peripheral sympathetic nervous system. 23754957

2013

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Altogether, both germinal and somatic anomalies at the PHOX2B locus are found in NB. 17765533

2007

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation LHGDN Consistent with its role as an important neurodevelopmental gene, forced overexpression of wild-type PHOX2B in neuroblastoma cell lines suppressed cell proliferation and synergized with all-trans retinoic acid to promote differentiation. 17637745

2008

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE We undertook mutational analysis of the genes known to predispose to non-syndromic familial Wilms tumor (WT1) or neuroblastoma (PHOX2B, ALK) which excluded these as the underlying predisposition genes in the nine families. 20054657

2010

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Approximately 1-2% of neuroblastomas are inherited in an autosomal dominant fashion and a combination of co-morbidity and linkage studies has led to the identification of germline mutations in PHOX2B and ALK as the major genetic contributors to this familial neuroblastoma subset. 29589100

2018

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Our results suggest that certain PHOX2B variants associated with neuroblastoma pathogenesis, because of their inability to bind to key interacting proteins such as HPCAL1, may predispose to this malignancy by impeding the differentiation of immature sympathetic neurons. 23873030

2014

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Nevertheless, as only a few NB families but not others have been shown to carry PHOX2B mutations, the role of this gene in NB predisposition has still to be clarified. 15923081

2005

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Universal mass screening for neuroblastoma is not indicated but targeted screening of infants at risk of hereditary neuroblastoma with germline ALK or PHOX2B mutations is appropriate. 22673527

2012

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Mutation of PHOX2B and deletion of CIC in neuroblastoma cell lines induced activation of the RAS-MAPK pathway. 30115695

2018

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation 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: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE We now present a patient who had neurocristopathy syndrome who had multifocal NB associated with an underlying germline PHOX2B mutation. 25070313

2014

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 GeneticVariation BEFREE Furthermore, as PHOX2B mutations were mainly observed in some NB families with multifocal and syndromic NB, features that are missing in the families we have studied, we suggest they represent second-site modifications responsible for a specific phenotype rather than causal mutations of a major locus. 15735672

2005