Gene: KIAA0586 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 CausalMutation disease CLINVAR Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 CausalMutation disease CLINVAR To identify novel JS genes, we performed whole exome sequencing on 35 individuals with JS and found biallelic rare deleterious variants (RDVs) in KIAA0586, encoding a centrosomal protein required for ciliogenesis, in one individual. 26096313 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 CausalMutation disease CLINVAR Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 26026149 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 CausalMutation disease CLINVAR TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 26386247 2015