×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy.
28817236
2017
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
Variants in CUL4B are associated with cerebral malformations.
25385192
2015
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
24898194
2014
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression.
21816345
2011
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
20002452
2010
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
20655035
2010
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
CRL4s: the CUL4-RING E3 ubiquitin ligases.
19818632
2009
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
phenotype
CLINVAR
Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
17273978
2007
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
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
×
Entrez Id:
8450
Gene Symbol:
CUL4B
CUL4B
0.100
CausalMutation
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