| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Familial aplasia of the vermis
|
0.710 | GeneticVariation | BEFREE | By studying patient biopsies, patient-derived kidney cells, and a mouse model, we identify abnormal elongation of primary cilia as a key pathophysiological feature of <i>CEP290</i>-associated JBTS and show that antisense oligonucleotide (ASO)-induced splicing of the mutated exon (41, G1890*) restores protein expression in patient cells. | 30446612 | 2018 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Development of end-stage renal disease at a young age in two cases with Joubert syndrome. | 25818971 | 2016 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. | 27353947 | 2016 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. | 23591405 | 2014 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | 12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4. | 23954617 | 2013 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. | 22355252 | 2012 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Molecular characterization of Joubert syndrome in Saudi Arabia. | 22693042 | 2012 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | 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 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. | 21068128 | 2011 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. | 17564967 | 2007 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. | 16682973 | 2006 | |||||
Familial aplasia of the vermis
|
0.710 | CausalMutation | CLINVAR | Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | 16682970 | 2006 |