Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR De novo genic mutations among a Chinese autism spectrum disorder cohort. 27824329

2016

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. 25969726

2015

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Kelch proteins: emerging roles in skeletal muscle development and diseases. 24959344

2014

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). 24266877

2014

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR De novo mutations in histone-modifying genes in congenital heart disease. 23665959

2013

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Update on the Kelch-like (KLHL) gene family. 23676014

2013

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Rate of de novo mutations and the importance of father's age to disease risk. 22914163

2012

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. 22266938

2012

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR The cullin protein family. 21554755

2011

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton. 20065088

2010

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Structural assembly of cullin-RING ubiquitin ligase complexes. 20880695

2010

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Gene expression alterations in cryptorchid males using spermatozoal microarray analysis. 18687424

2009

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR The cullin7 E3 ubiquitin ligase: a novel player in growth control. 18927510

2008

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors. 17559828

2007

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR The ubiquitin-proteasome system. 16595883

2006

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis. 16162871

2006

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons. 15843622

2005

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family. 15071497

2004

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. 15136734

2004

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells. 10500095

1999

dbSNP: rs1553521389
rs1553521389
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. 3002982

1986