Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) and retinitis pigmentosa. 30970040 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE The rodent models correspond to three emblematic ciliopathies, namely: Bardet-Biedl Syndrome (BBS), Alström Syndrome (ALMS) and CEP290-mediated Leber Congenital Amaurosis (LCA). 31302159 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE However, precise roles of CEP290 in photoreceptors and pathomechanisms of retinal degeneration in <i>CEP290</i>-associated ciliopathies are not sufficiently understood. 31694913 2019
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Our results provide phenotypic insight into the disease mechanisms of Cep290 ciliopathy mutations and also the tools for studying genotype/phenotype relationships in ciliopathies. 30930621 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Mutations in CEP290 have been linked to a group of multi-organ disorders - termed ciliopathies. 30478281 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). 29771326 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE CEP290, a gene mutated in several ciliopathies, encodes a protein that forms a complex with NPHP5 to support the function of the ciliary transition zone. 30035750 2018
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). 28700940 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. 26936822 2016
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE Whereas centriolar maturation seemed unaffected in mutant cells, we observed an abnormal extended pattern of CEP290, a centriolar satellite protein previously associated with ciliopathies. 26166481 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE Together, our results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes. 26301811 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE Our studies demonstrate domain-specific functions of CEP290 and provide novel therapeutic paradigms for ciliopathies. 25859007 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Mutations in the centrosomal protein of 290 kDa (CEP290) gene are associated with a spectrum of phenotypically distinct human diseases (the ciliopathies). 26062849 2015
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Particularly, mutations in CEP290 cause phenotypically diverse ciliopathies ranging from isolated retinal degeneration, nephronophthisis and Joubert syndrome, to the neonatal lethal Meckel-Gruber syndrome. 23943788 2014
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE These data implicate CEP290 as an integral structural and regulatory component of the cilium and provide insight into the pathological mechanisms of LCA and related ciliopathies. 24051377 2013
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE We identify Cep72 as a PCM1-interacting protein required for recruitment of the ciliopathy-associated protein Cep290 to centriolar satellites. 22767577 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. 22446187 2012
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE The most common molecular form is a ciliopathy due to NPHP6 (CEP290) mutations and subjects have profound loss of vision. 21245082 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 Biomarker disease BEFREE Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies. 21685394 2011
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS), to the lethal Meckel-Grüber syndrome (MKS). 20690115 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. 19058225 2009
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE Expanding CEP290 mutational spectrum in ciliopathies. 19764032 2009
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 GeneticVariation disease BEFREE In ciliated cells, we observe localization of recombinant CC2D2A at the basal body and colocalization with CEP290, whose cognate gene is mutated in multiple hereditary ciliopathies. 18950740 2008
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
0.400 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
0.400 GeneticVariation disease BEFREE Mutations in CEP290 mutations are responsible for the cerebello-oculo-renal subtype of JS that includes kidney cysts and retinal degeneration, two phenotypes commonly linked to ciliopathies. 18772192 2008