Gene: KIAA0586 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 GeneticVariation disease BEFREE Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause both severe lethal and mild cilia-related developmental disorders known as 'ciliopathies' the most common being Joubert syndrome. 31326647 2019
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 GeneticVariation disease BEFREE Talpid3 mutant mice exhibit key hallmarks of JS including progressive ataxia, severely hypoplastic cerebellar hemispheres and vermis, together with abnormal decussation of the superior cerebellar peduncles. 30924151 2019
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 GeneticVariation disease BEFREE Mutations in KIAA0586/TALPID3 (TA3) cause Joubert syndrome, in which 30% of affected individuals develop retinal involvement. 29396404 2018
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 GermlineCausalMutation disease ORPHANET 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 GeneticVariation disease BEFREE 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 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 GeneticVariation disease BEFREE Truncating KIAA0586 mutations were identified in two additional patients with JBTS. 26386247 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.670 Biomarker disease GENOMICS_ENGLAND 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 GeneticVariation disease BEFREE Our results show that biallelic deleterious mutations in KIAA0586 lead to Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 26386044 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 GeneticVariation disease BEFREE Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. 26026149 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