CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.340 Biomarker disease BEFREE Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the duplication interval have been associated with mental retardation. 25956375 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.340 GeneticVariation disease BEFREE Recent studies have revealed that germ-line mutations in CUL4B can cause mental retardation, short stature, and many other abnormalities in humans. 21795677 2011
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.340 GeneticVariation disease BEFREE Recently, mutations in CUL4B were identified in humans associated with mental retardation, relative macrocephaly, tremor and a peripheral neuropathy. 20064923 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.340 GeneticVariation disease BEFREE Here, using oligoarray-based comparative genomic hybridization (array CGH), we identified a de novo deletion of the CUL4B gene in a boy with syndromic mental retardation, minor facial anomalies, short stature, delayed puberty, hypogonadism, relative macrocephaly, gait ataxia, and pes cavus, all manifestations described previously in patients with CUL4B point mutations. 20014135 2010
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.340 CausalMutation disease CLINVAR
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.340 Biomarker disease MGD