Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931015
Disease: Dandy Walker variant
Dandy Walker variant
0.010 Biomarker disease BEFREE Our study is the first to describe a pathogenic CIP2A mutation in humans, which might disrupt neuronal development via enhancing mTOR and c-Myc protein expressions, shedding light in mechanisms of DWV pathogenesis. 29846820 2018