Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. 3002982

1986
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. 3002982

1986
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells. 10500095

1999
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells. 10500095

1999
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development. 15511641

2004
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. 15136734

2004
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family. 15071497

2004
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development. 15511641

2004
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family. 15071497

2004
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. 15136734

2004
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons. 15843622

2005
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons. 15843622

2005
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis. 16162871

2006
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The ubiquitin-proteasome system. 16595883

2006
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis. 16162871

2006
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The ubiquitin-proteasome system. 16595883

2006
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors. 17559828

2007
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors. 17559828

2007
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR The cullin7 E3 ubiquitin ligase: a novel player in growth control. 18927510

2008
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The cullin7 E3 ubiquitin ligase: a novel player in growth control. 18927510

2008
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Gene expression alterations in cryptorchid males using spermatozoal microarray analysis. 18687424

2009
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Gene expression alterations in cryptorchid males using spermatozoal microarray analysis. 18687424

2009
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Structural assembly of cullin-RING ubiquitin ligase complexes. 20880695

2010
dbSNP: rs1553602498
rs1553602498
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton. 20065088

2010
dbSNP: rs1553521389
rs1553521389
CUL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Structural assembly of cullin-RING ubiquitin ligase complexes. 20880695

2010