CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Disease: Mental Retardation, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 GeneticVariation disease BEFREE Mutations in human CUL4B, one of the eight members in cullin family, are one of the major causes of X-linked mental retardation. 22606329 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 Biomarker disease BEFREE Our results identify Cul4b(Δ)/Y mice as a potential model for the non-syndromic model of XLMR that replicates the CUL4B-associated MR and is valuable for the development of a therapeutic strategy for treating MR. 22763239 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 Biomarker disease BEFREE Viable Cul4b-null mice provide the first animal model to study neuronal and behavioral deficiencies seen in human CUL4B XLMR patients. 22584258 2012
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 Biomarker disease BEFREE We discuss the unexpected association of defective CUL4B with syndromal X-linked mental retardation in humans and speculate on the biochemical consequences and clinical implications of defective CRL4 function. 21352845 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 GeneticVariation disease BEFREE A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. 20002452 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 GeneticVariation disease BEFREE Point mutations in CUL4B were identified recently in patients with syndromic X-linked mental retardation (XLMR). 20014135 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 GeneticVariation disease LHGDN Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.080 GeneticVariation disease BEFREE The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority. 17236139 2007