Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 Biomarker BEFREE PHOX2B immunostain was performed on 29 paediatric cases, with adequate controls: one retroperitoneal embryonal tumour in a child with retinoblastoma (index 1), one posterior fossa embryonal tumour in a child with a neuroblastoma (index 2), seven medulloblastomas, four atypical teratoid/rhabdoid tumours (ATRT), four retinoblastomas, six pineoblastomas, four embryonal tumours with multilayered rosettes (ETMR) and two CNS embryonal tumours, not elsewhere classified. 29758594

2018

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker CTD_human We then used genome-wide chromatin-immunoprecipitation coupled to high-throughput sequencing analysis to demonstrate that a small number of essential transcription factors-MYCN, HAND2, ISL1, PHOX2B, GATA3, and TBX2-are members of the transcriptional core regulatory circuitry (CRC) that maintains cell state in MYCN-amplified neuroblastoma. 30127528

2018

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 AlteredExpression BEFREE The PHOX2B/TH expression in diagnostic BM of patients with neuroblastoma corresponded with a decreased survival rate (P < 0.001) in the total cohort and in different risk groups. 30007008

2018

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE We set out to determine whether the analysis of TH (tyrosine hydroxylase), PHOX2B (paired-like homeobox 2b), and DCX (doublecortin) transcripts using quantitative reverse transcriptase polymerase chain reaction (RT-qPCR) could be used to detect NB contamination in ovarian tissue. 27734578

2017

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 AlteredExpression BEFREE Furthermore, it has been observed that neuronal differentiation in neuroblastoma is dependent on down-regulation of <i>PHOX2B</i> expression, which confirms that PHOX2B expression may be considered a target in neuroblastoma. 29069774

2017

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE PHOX2B is a highly sensitive and specific immunohistochemical marker for peripheral neuroblastic tumours, including neuroblastoma. 28640941

2017

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE Functional studies demonstrated dependency of neuroblastoma with noradrenergic identity on PHOX2B, evocative of lineage addiction. 28740262

2017

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE Among paediatric small round cell tumours, PHOX2B is neuroblastoma-specific. 28464318

2017

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE PHOX2B is a suppressor of neuroblastoma metastasis. 26840262

2016

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE Our findings demonstrate that PHOX2A expression is finely controlled during retinoic acid differentiation and this, together with PHOX2B down-regulation, reinforces the idea that they may be useful biomarkers for NB staging, prognosis and treatment decision making. 26902400

2016

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE These findings confirmed that PHOX2B is a key regulator of neuroblastoma differentiation and stemness maintenance and indicated that PHOX2B might serve as a potential therapeutic target in neuroblastoma patients. 26910576

2016

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 AlteredExpression BEFREE Therefore, post-transcriptional down-regulation of the PHOX2B gene takes place in NB cell lines and miRNA-204 participates in such a 3'UTR mediated control. 26145533

2015

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 AlteredExpression BEFREE Starting from these observations, we have performed in vitro drug screening approaches targeting PHOX2B overexpression as a potential pharmacological means in NB. 25882494

2015

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker BEFREE To investigate graft contamination qPCR was performed by using 5 neuroblastoma specific markers (PHOX2B, TH, DDC, CHRNA3, and DBH). 25939774

2015

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 AlteredExpression BEFREE PCR-based detection of minimal residual disease (MRD) in neuroblastoma is currently based on RNA markers; however, expression of these targets can vary, and only paired-like homeobox 2b has no background expression. 25445214

2015

Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.800 Biomarker CTD_human A Cre-conditional MYCN-driven neuroblastoma mouse model as an improved tool for preclinical studies. 25174395

2015

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 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 AlteredExpression BEFREE In the present study, we validated the ability of 14 commonly used real-time RT-PCR markers to detect MRD based on their expression in neuroblastoma TICs, and we developed a novel MRD detection protocol, which scored the samples as MRD-positive when the expression of one of the 11 real-time RT-PCR markers (CHRNA3, CRMP1, DBH, DCX, DDC, GABRB3, GAP43, ISL1, KIF1A, PHOX2B and TH) exceeded the normal range. 23417100

2013

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 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 Germline mutations in the ALK and PHOX2B genes have been found in a subset of familial NBs. 24205241

2013

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