rs121918457, PTPN11

N. diseases: 24
Disease: Adult Medulloblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
0.010 GeneticVariation BEFREE We present a patient with NSML caused by the recurrent PTPN11 mutation c.1403C > T (p.Thr468Met) in whom medulloblastoma was diagnosed at age 10 years. 23813970 2013