Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007682
Disease: CNS disorder
CNS disorder
0.010 Biomarker group BEFREE Since mutations in other Elongator subunits (ELP2 to ELP4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential requirement for <i>Ikbkap</i> in the CNS of mice<i>.</i> The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40. 28167615 2017