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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND
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 These miRNAs were able to suppress endogenous N-myc protein in a MYCN-amplified neuroblastoma cell line. 21654684 2011
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE This study defines a set of critical dependency genes in MYCN-amplified neuroblastoma that are essential for cell state and survival in this tumor. 30127528 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 AlteredExpression disease BEFREE c-Kit is preferentially expressed in MYCN-amplified neuroblastoma and its effect on cell proliferation is inhibited in vitro by STI-571. 12800187 2003
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 AlteredExpression disease BEFREE We constructed the subset-specific oligo-capping cDNA libraries from the primary NBL tissues with favorable (F: stage 1, high expression of TrkA and a single copy of MYCN) and unfavorable (UF: stage 3 or 4, decreased expression of TrkA and MYCN amplification) characteristics and randomly cloned 4654 cDNAs. 12934113 2003
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE We established NB xenograft models in non-obese diabetic/severe combined immunodeficiency (NOD/SCID) mice with MYCN-amplified SK-N-DZ (DZ) cells or MYCN-non-amplified SK-N-AS (AS) cells. 27183205 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE As N-Myc amplification correlates with aggressive neuroblastoma and chemotherapy-based treatment failure, co-treatment with cathepsin inhibitors might be a better avenue for disease management. 25883214 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE Cell lines from MYCN transgenic murine tumours reflect the molecular and biological characteristics of human neuroblastoma. 17449239 2007
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE The presence of 3p, 11q or 14q deletions defines a genetic subset of neuroblastomas and contributes to the further genetic characterization of stage 3 and 4 tumors without MYCN amplification (MNA) and 1p deletion. 9739017 1998
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 AlteredExpression disease BEFREE Gene expression analysis using TaqMan low-density arrays of 129 primary human neuroblastomas without MYCN amplification revealed that high-level expression of TAM-specific genes (CD14, CD16, IL6, IL6R, and TGFB1) was associated with poor 5-year event-free survival. 19411762 2009
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.700 Biomarker disease BEFREE These data suggest that high-level expression of EPHB6, EFNB2, and EFNB3 is associated with favorable NB and that low-level expression of EPHB6, EFNB2, and EFNB3 correlates with aggressive MYCN-amplified NB. 10389937 1999
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