| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo genic mutations among a Chinese autism spectrum disorder cohort. | 27824329 | 2016 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders. | 25969726 | 2015 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Synaptic, transcriptional and chromatin genes disrupted in autism. | 25363760 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Kelch proteins: emerging roles in skeletal muscle development and diseases. | 24959344 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). | 24266877 | 2014 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. | 24267886 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | De novo mutations in histone-modifying genes in congenital heart disease. | 23665959 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Update on the Kelch-like (KLHL) gene family. | 23676014 | 2013 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Rate of de novo mutations and the importance of father's age to disease risk. | 22914163 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. | 22266938 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | 22495309 | 2012 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The cullin protein family. | 21554755 | 2011 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Structural assembly of cullin-RING ubiquitin ligase complexes. | 20880695 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton. | 20065088 | 2010 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Gene expression alterations in cryptorchid males using spermatozoal microarray analysis. | 18687424 | 2009 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The cullin7 E3 ubiquitin ligase: a novel player in growth control. | 18927510 | 2008 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors. | 17559828 | 2007 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis. | 16162871 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | The ubiquitin-proteasome system. | 16595883 | 2006 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons. | 15843622 | 2005 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development. | 15511641 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. | 15136734 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family. | 15071497 | 2004 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells. | 10500095 | 1999 | |||||
Dysmorphic features
|
0.700 | CausalMutation | CLINVAR | Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. | 3002982 | 1986 |