Gene: KIAA0586 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs534542684
rs534542684
KIAA0586
A 0.700 CausalMutation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
dbSNP: rs534542684
rs534542684
KIAA0586
A 0.700 CausalMutation CLINVAR TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 26386247

2015
dbSNP: rs534542684
rs534542684
KIAA0586
A 0.700 CausalMutation CLINVAR Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029

2015
dbSNP: rs534542684
rs534542684
KIAA0586
A 0.700 CausalMutation CLINVAR Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 26026149

2015
dbSNP: rs886039809
rs886039809
KIAA0586
G 0.700 CausalMutation CLINVAR