Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder)
0.010 AlteredExpression disease BEFREE Disrupting endogenous RNF138 function also effectively rescues the defective protein expression of EA2 mutants, as well as fully reversing EA2 mutant-induced excessive proteasomal degradation of Ca<sub>V</sub>2.1 WT subunits. 28167673 2017