CRBN, cereblon, 51185

N. diseases: 130; N. variants: 16
Disease: Mental Retardation, Autosomal Recessive 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045036
rs797045036 		0.925 0.160 3 3151023 missense variant A/G snv
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2016 2016
dbSNP: rs121918368
rs121918368 		0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0