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 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 GeneticVariation disease CLINVAR
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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Additionally, the previously reported LMO1 neuroblastoma risk locus was statistically significant only in patients with MYCN-nonamplified high-risk tumors (OR = 0.63, 95% CI = 0.53 to 0.75, Pmeta = 1.51 × 10-8; Pmeta = .95). 29117357 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted. 22764207 2012
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE In conclusion, surgery alone yielded excellent OS for both stage 1 and 2 neuroblastoma without MYCNA, although stage 2 patients with unfavourable histopathology and elevated LDH suffered a high number of relapses. 18766186 2008
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Amplification of the MYCN gene is a characteristic feature of many neuroblastomas and is correlated with aggressive tumor growth. 11066073 2000
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Neuroblastoma, especially high-risk stage 4 NB with MYCN amplification has limited treatment options and associated with poor prognosis. 25951238 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Enlarged and prominent nucleoli may be indicative of MYCN amplification: a study of neuroblastoma (Schwannian stroma-poor), undifferentiated/poorly differentiated subtype with high mitosis-karyorrhexis index. 15549714 2005
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Neuroblastomas (NBs) show complex patterns of genetic abnormalities, which may include amplification of the MYCN gene, deletion of 1p, or a gain of DNA at 17q, the last being the most frequent observation in NB tumors. 12702577 2003
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Deletion of chromosome arm 1p and amplification of the MYCN oncogene are well-recognized genetic alterations in neuroblastoma cells. 10604740 1999
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 GeneticVariation disease BEFREE The present study was aimed at determining whether amplification of the DDX1 gene is critical for human neuroblastomas exhibiting MYCN gene amplification. 8834177 1996
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE To determine the usefulness of semi-quantitative differential PCR (SQ-PCR) for accurate quantification of MYCN gene copy number, we evaluated the analytical performance of this method by comparing the results obtained with it for 101 tumor samples of neuroblastoma to that obtained by absolute and relative real-time PCR. 19738985 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Neuroblastoma exhibiting deletion of a segment of the long arm of chromosome 11 represents a genetic subtype of tumor that is distinct from those exhibiting MYCN amplification or 1p deletion. 12645651 2003
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Four cases of MYCN amplification and favorable histology were identified in our file of 63 cases of neuroblastoma. 21288077 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Use of chromogenic in situ hybridization to identify MYCN gene copy number in neuroblastoma using routine tissue sections. 16699319 2006
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Specific genetic alterations of the short arm of chromosome 1 and amplification of the MYCN gene are diagnostically useful in neuroblastomas as the immunoglobulin or T-cell receptor gene rearrangements and chromosome translocations in lymphomas. 8875708 1996
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE We describe the establishment and characterization of a new neuroblastoma (Nb) cell line, SiMa, carrying the major recurrent chromosome changes associated with poor prognosis Nb, including amplification of N-MYC by formation of double minutes (dmin), der(1)t(1;17)(p35;q12) and der(22)t(17;22)(q22;p13), and loss of chromosome 11, documented at both initiation and late passage. 10686945 1999
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Allelic deletion at 11q23 is common in MYCN single copy neuroblastomas. 10490829 1999
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Only 14% of neuroblastomas showed >50% staining, and of these, if known, MYCN was not amplified. 28521631 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Neuroblastoma Amplified Gene (NAG) was identified as a gene co-amplified with the N-myc gene, whose genomic amplification correlates with poor prognosis of neuroblastoma. 23621803 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Alternative pathways of MYCN gene copy number increase in primary neuroblastoma tumors. 15325088 2004
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas. 8102299 1993
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 GeneticVariation disease BEFREE We have examined PCNA levels in neuroblastomas in relation to N-myc gene amplification and tumor stage. 8093685 1993