CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 16682973 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. 23954617 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. 23344081 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Molecular characterization of Joubert syndrome in Saudi Arabia. 22693042 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Development of end-stage renal disease at a young age in two cases with Joubert syndrome. 25818971 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 23847139 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR CEP290, a gene with many faces: mutation overview and presentation of CEP290base. 20690115 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. 17564974 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 22355252 2012
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 17564967 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 27491411 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 17964524 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. 16909394 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.200 CausalMutation disease CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011