CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Disease: Muscle hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 20655035 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. 20002452 2010
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. 10978355 2000