Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192

2015
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194

2014
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 20655035

2010
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632

2009
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. 10978355

2000