Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.670 CausalMutation 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.670 CausalMutation 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.670 CausalMutation CLINVAR Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 26026149

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.670 CausalMutation CLINVAR TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 26386247

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation 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
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 GeneticVariation CLINVAR Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 26166481

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation CLINVAR By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. 26386247

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 GeneticVariation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation CLINVAR Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 26026149

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		0.610 CausalMutation CLINVAR Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 26386044

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568

2017
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 GeneticVariation CLINVAR Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 26166481

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 CausalMutation CLINVAR Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 26026149

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 CausalMutation CLINVAR TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 26386247

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 GeneticVariation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 CausalMutation CLINVAR KIAA0586 is Mutated in Joubert Syndrome. 26096313

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 CausalMutation CLINVAR Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 26386044

2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		0.400 CausalMutation 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
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.110 GeneticVariation CLINVAR

Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0003578
Disease: Apnea
Apnea 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.100 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016