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: rs1057519396
rs1057519396
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1085307760
rs1085307760
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434616
rs121434616
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434616
rs121434616
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434616
rs121434616
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434616
rs121434616
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434616
rs121434616
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434616
rs121434616
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0424503
Disease:
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1556173896
rs1556173896
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0796254
Disease:
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1556206910
rs1556206910
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569389364
rs1569389364
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs786200913
rs786200913
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797044862
rs797044862
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869320682
rs869320682
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1845861
Disease:
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853152
rs878853152
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0025362
Disease:
Mental Retardation 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. 10978355 2000
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. 10978355 2000
dbSNP: rs1556200443
rs1556200443
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. 10978355 2000
dbSNP: rs1556213001
rs1556213001
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 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
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 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
dbSNP: rs1556220623
rs1556220623
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C1849265
Disease:
Overgrowth 		A 0.700 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
dbSNP: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 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: rs1260356990
rs1260356990
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation. 17273978 2007