| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. | 23539563 | 2013 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | CausalMutation | CLINVAR | The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. | 23539563 | 2013 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | UNIPROT | Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. | 21990111 | 2012 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. | 21990111 | 2012 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | UNIPROT | Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. | 22261744 | 2012 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. | 21499717 | 2011 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). | 20187884 | 2010 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. | 19132115 | 2009 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | CausalMutation | CLINVAR | The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. | 19132115 | 2009 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | Batten disease: evaluation of CLN3 mutations on protein localization and function. | 10749980 | 2000 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | CausalMutation | CLINVAR | Batten disease: evaluation of CLN3 mutations on protein localization and function. | 10749980 | 2000 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | UNIPROT | Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. | 9490299 | 1998 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | A yeast model for the study of Batten disease. | 9618513 | 1998 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | CausalMutation | CLINVAR | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 |