Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Transgenic expression of activated Kras(G12D) in mouse respiratory epithelium is sufficient to induce lung adenocarcinomas; however, transcriptional mechanisms regulated by K-Ras during the initiation of lung cancer remain poorly understood. 24213573 2014
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Transgenic expression of activated Kras(G12D) in mouse respiratory epithelium is sufficient to induce lung adenocarcinomas; however, transcriptional mechanisms regulated by K-Ras during the initiation of lung cancer remain poorly understood. 24213573 2014
dbSNP: rs779000620
rs779000620
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0014850
Disease:
Esophageal Atresia
0.010 GeneticVariation BEFREE A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2. 16543359 2006
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4289690
Disease:
Diffuse Glioma
0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0025149
Disease:
Medulloblastoma
0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0278510
Disease:
Childhood Medulloblastoma
0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0206663
Disease:
Neuroectodermal Tumor, Primitive
0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs922324159
rs922324159
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0278876
Disease:
Adult Medulloblastoma
0.010 GeneticVariation BEFREE N-myc(T58A) cerebellar and brain stem NSCs generated medulloblastoma/primitive neuroectodermal tumors, whereas forebrain NSCs developed diffuse glioma. 22624711 2012
dbSNP: rs9653226
rs9653226
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A). 29997440 2018
dbSNP: rs9653226
rs9653226
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A). 29997440 2018
dbSNP: rs9653226
rs9653226
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE The results showed that only rs57961569 G>A was associated with neuroblastoma risk (GA vs GG: adjusted odds ratio =0.76, 95% confidence interval =0.60-0.98, <i>P</i>=0.033), while the other 3 SNPs were not (rs9653226 T>C, rs13034994 A>G, and rs60226897 G>A). 29997440 2018
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893646
rs104893646
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893647
rs104893647
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
A 0.800 CausalMutation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. 15821734 2005
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
0.800 GeneticVariation UNIPROT Expanding the clinical spectrum of MYCN-related Feingold syndrome. 16906565 2006
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
T 0.800 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in MYCN-related Feingold syndrome. 18470948 2008
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C0014850
Disease:
Esophageal Atresia
T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551563
Disease:
Microcephaly (physical finding)
T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893648
rs104893648
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C1861028
Disease:
Esophageal atresia with or without tracheoesophageal fistula
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121913666
rs121913666
Entrez Id: 4613
Gene Symbol: MYCN
MYCN
CUI: C4551774
Disease:
FEINGOLD SYNDROME 1
A 0.700 CausalMutation CLINVAR