Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Foxm1 transcription factor is required for the initiation of lung tumorigenesis by oncogenic Kras(G12D.). 24213573 2014
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C1306460
Disease:
Primary 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: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0024121
Disease:
Lung Neoplasms
0.010 GeneticVariation BEFREE Conditional deletion of Foxm1 from Kras(G12D)-expressing respiratory epithelium prevented the initiation of lung tumors in vivo. 24213573 2014
dbSNP: rs772399455
rs772399455
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
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: 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: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0206663
Disease:
Neuroectodermal Tumor, Primitive
0.010 GeneticVariation BEFREE H3.3 G34R mutations in pediatric primitive neuroectodermal tumors of central nervous system (CNS-PNET) and pediatric glioblastomas: possible diagnostic and therapeutic implications? 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C3887678
Disease:
Central Nervous System Embryonal Tumor, Not Otherwise Specified
0.010 GeneticVariation BEFREE Multiplex ligation-dependent probe amplification analysis revealed PDGFR-alpha amplification and EGFR gain in two cases and N-Myc amplification in one case of H3.3 G34R mutated CNS-PNET. 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0017636
Disease:
Glioblastoma
0.010 GeneticVariation BEFREE The K27M (AAG → ATG, lysine → methionine) mutation was found in 33 glioblastomas (26 %); the G34R (GGG → AGG, glycine → arginine) was observed in 6 glioblastomas (5.5 %). 23354654 2013
dbSNP: rs1200941109
rs1200941109
Entrez Id: 4613;10408
Gene Symbol: MYCN;MYCNOS
MYCN;MYCNOS
CUI: C0006118
Disease:
Brain Neoplasms
0.010 GeneticVariation BEFREE In conclusion, because pediatric patients with glioblastoma and CNS-PNET are treated according to different therapeutic protocols, these findings may raise further concerns about the reliability of the histological diagnosis in the case of an undifferentiated brain tumor harbouring G34R H3.3 mutation. 23354654 2013
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: 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