rs121918368, CRBN;TRNT1

N. diseases: 3
Disease: Intellectual Disability ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.030 GeneticVariation BEFREE The nonsense mutation, R419X, causes deletion of 24 amino acids at the C-terminus of CRBN, leading to mild ID. 26188093 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.030 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
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.030 GeneticVariation BEFREE Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 18414909 2008