Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. 16682970 2006
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 GeneticVariation disease CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394 2006
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. 17617513 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 CausalMutation disease CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 CausalMutation disease CLINVAR Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 26047050 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 CausalMutation disease CLINVAR High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. 17409309 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 CausalMutation disease CLINVAR Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 GeneticVariation disease BEFREE CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS). 18772192 2008
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 GeneticVariation disease BEFREE Our findings add to the increasing body of evidence that ciliopathies can cause a broad spectrum of disease phenotypes, and pleiotropic effects of CEP290 mutations range from single organ involvement with isolated Leber congenital amaurosis to Joubert syndrome and lethal early embryonic multisystemic malformations in Meckel-Gruber syndrome. 17705300 2008
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 CausalMutation disease CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973 2006
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 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 		0.440 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 		0.440 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 		0.440 GermlineCausalMutation disease ORPHANET Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 17345604 2007
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 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 		0.440 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 		0.440 Biomarker disease BEFREE CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS). 21257638 2011