CRBN, cereblon, 51185

N. diseases: 130; N. variants: 16
Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 GeneticVariation disease BEFREE A missense variant (c. 1171T>C) in the <i>CRBN</i> gene was identified in five individuals with severe intellectual disability (ID) in a consanguineous Saudi family. 28143899 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO