Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 Biomarker disease BEFREE These results indicate that while individuals with deletions of 2p spanning several megabases and including MYCN can present with features not typically associated with FS1, the common core features are usually present. 30088856 2018
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 CausalMutation disease CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 ChromosomalRearrangement disease ORPHANET Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 GermlineCausalMutation disease ORPHANET Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 GeneticVariation disease UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 GeneticVariation disease UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 CausalMutation disease CLINVAR MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 Biomarker disease GENOMICS_ENGLAND MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 ChromosomalRearrangement disease ORPHANET MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 Biomarker disease GENOMICS_ENGLAND MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 GermlineCausalMutation disease ORPHANET MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 GeneticVariation disease CLINVAR
CUI: C4551774
Disease: FEINGOLD SYNDROME 1
FEINGOLD SYNDROME 1
0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Ratios of plasma 3-methoxytyramine to normetanephrine were 7.2-fold higher (P < 0.0001) for patients who had neuroblastomas with MYCN amplification than without MYCN amplification. 31724812 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE The deregulated expression of microRNA (miR) is reported in NB; nonetheless, its effect on MYCN regulation is poorly understood. 31637848 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 GeneticVariation disease BEFREE Genomic profiles of 628 NB samples analyzed by array-comparative genome hybridization (a-CGH) were re-examined to identify gene amplifications other them MYCN amplification. 31756773 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE We established the model system, OHC-NB1, from a bone marrow metastasis from a patient diagnosed with MYCN-amplified neuroblastoma and performed whole-exome sequencing on the source metastasis and the different models and passages during model development (monolayer cell line, 3D spheroid culture and subcutaneous xenograft tumors propagated in mice). 31304977 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE MYCN-amplification in neuroblastoma is associated with an aggressive clinical phenotype. 31685267 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE Accordingly, INSM1 has emerged as a critical player closely associated with N-Myc in facilitating NB cell growth. 30755485 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations. 29314142 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 AlteredExpression disease BEFREE Combination therapy with the CDK7/super-enhancer inhibitor THZ1 and the histone deacetylase inhibitor panobinostat synergistically reduces JMJD6, E2F2, N-Myc, c-Myc expression, induces apoptosis in vitro and leads to neuroblastoma tumor regression in mice, which are significantly reversed by forced JMJD6 over-expression. 31346162 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE These findings reveal a critical role of GLDC in sustaining the proliferation of neuroblastoma cells with high-level GLDC expression and suggest that MYCN amplification is a biomarker for GLDC-based therapeutic strategies against high-risk neuroblastoma. 31444411 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 GeneticVariation disease BEFREE Recent studies have identified alterations of the anaplastic lymphoma kinase (ALK) gene in neuroblastoma; ALK F1174L (a phenylalanine-to-leucine substitution at codon 1174) represents one of the most frequent of these somatic mutations, and is associated with amplification of the MYCN gene, the most reliable marker for the poor survival. 31218818 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 AlteredExpression disease BEFREE SIGNIFICANCE: This study presents a novel approach to drugging an amplified oncogene by showing that targeting gene amplification of <i>MYCN</i> suppresses MYCN expression and neuroblastoma growth. 30584073 2019
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.700 Biomarker disease BEFREE CX-5461 repressed the growth of established MYCN-amplified neuroblastoma xenograft tumors in nude mice. 30542116 2019