rs121918368, CRBN;TRNT1

N. diseases: 3
Disease: Mental Retardation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
0.020 GeneticVariation BEFREE We also show that the level of the mutant protein can be restored by a treatment of cells with a clinically utilized proteasome inhibitor, suggesting that this agent may be useful for the treatment of mental retardation associated with the CRBN R419X mutation. 23983124 2013
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
0.020 GeneticVariation BEFREE Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 18414909 2008