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 		0.440 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 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 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 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 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 GeneticVariation 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 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 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967 2007
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 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 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 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 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 17964524 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 GermlineCausalMutation disease ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 20683928 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 GeneticVariation 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 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 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 		0.440 GermlineCausalMutation disease ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233 2011
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 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 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
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.440 CausalMutation disease CLINVAR Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 21602930 2011