CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease BEFREE Mutations in CUL4B result in Cabezas syndrome (CS). 31729179 2020
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease GENOMICS_ENGLAND Variants in CUL4B are associated with cerebral malformations. 25385192 2015
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease GENOMICS_ENGLAND Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease CLINGEN Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation. 22763239 2012
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease GENOMICS_ENGLAND Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. 22182342 2012
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease BEFREE Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X-linked mental retardation (XLMR) caused by mutations in the CUL4B gene. 20002452 2010
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease UNIPROT Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. 20002452 2010
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GermlineCausalMutation disease ORPHANET Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. 17236139 2007
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease CLINGEN Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. 17236139 2007
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. 17236139 2007
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease CLINGEN Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease UNIPROT Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. 17236139 2007
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease UNIPROT Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GermlineCausalMutation disease ORPHANET Pediatric management problems: Henoch-Schönlein purpura. 2000245 1991
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 GeneticVariation disease CLINVAR
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 CausalMutation disease CLINVAR
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease CTD_human
CUI: C1845861
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures 		0.410 GeneticVariation phenotype BEFREE We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage. 28817111 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype GENOMICS_ENGLAND Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair. 22182342 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.410 CausalMutation phenotype CLINVAR
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