CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. 28817236 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group BEFREE Other dementia-related proteins, namely Tau and apoE, interact with and are ubiquitinated via the ACR in vitro This, and the evidence that CRBN and CUL4B are linked to intellectual disability, prompts us to hypothesize a pathogenic mechanism, in which APP acts as a modulator of E3 ubiquitin-protein ligase(s), shared by distinct neuronal disorders. 27325702 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. 25385192 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group BEFREE Recently, mutations in CUL4B were identified in humans associated with mental retardation, relative macrocephaly, tremor and a peripheral neuropathy. 20064923 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.180 Biomarker group HPO