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: rs121434615
rs121434615
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		0.800 GeneticVariation UNIPROT
dbSNP: rs121434615
rs121434615
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. 28817236 2017
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Variants in CUL4B are associated with cerebral malformations. 25385192 2015
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 CausalMutation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 24898194 2014
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011