CUL4B, cullin 4B, 8450

N. diseases: 162; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation 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
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation 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
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 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
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 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
dbSNP: rs763692058
rs763692058
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.700 GeneticVariation UNIPROT Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007
dbSNP: rs763692058
rs763692058
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.700 GeneticVariation 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
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR CRL4s: the CUL4-RING E3 ubiquitin ligases. 19818632 2009
dbSNP: rs763692058
rs763692058
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.700 GeneticVariation UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 20655035 2010
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. 20002452 2010
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. 20002452 2010
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. 20002452 2010
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 20655035 2010
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. 20655035 2010