Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
0.010 GeneticVariation BEFREE In this report, we present the case of a 5-year-old female with GBM and CMMRD due to an <i>MSH6</i> homozygous c.1883G>A mutation, who continues to experience an exceptional and durable response (9 months) to the immune checkpoint inhibitor (ICPI) nivolumab. 30104292 2018