Gene: CEP290 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 29588463 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies. 29398085 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. 26673778 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. 27353947 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. 23188109 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. 23344081 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. 21245082 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.160 CausalMutation disease CLINVAR Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 21602930 2011