rs139209450, AXIN2

N. diseases: 1
Disease: Medulloblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
0.010 GeneticVariation BEFREE In 2 further MB biopsies, mutations were identified in exon 5 (Glu408Lys) and exon 8 (Ser738Phe) of the AXIN2 gene, which are due to predicted germline mutations and rare polymorphisms. mRNA expression analysis in 22 MBs revealed reduced expression of AXIN2 mRNA compared to 8 fetal cerebellar tissues. 17373666 2007