Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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 | 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 | 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 | Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. | 12189165 | 2002 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | CLINVAR | Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein. | 10924275 | 2000 | |||||
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 | 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 | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 | |||||
Juvenile Neuronal Ceroid Lipofuscinosis
|
0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 | |||||
Neuronal Ceroid-Lipofuscinoses
|
0.700 | GeneticVariation | CLINVAR | The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. | 19132115 | 2009 | |||||
Neuronal Ceroid-Lipofuscinoses
|
0.700 | GeneticVariation | CLINVAR | Nitric oxide signaling is disrupted in the yeast model for Batten disease. | 17475770 | 2007 | |||||
Neuronal Ceroid-Lipofuscinoses
|
0.700 | GeneticVariation | CLINVAR | Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. | 17868323 | 2007 | |||||
Neuronal Ceroid-Lipofuscinoses
|
0.700 | GeneticVariation | CLINVAR | btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. | 16291725 | 2005 | |||||
Neuronal Ceroid-Lipofuscinoses
|
0.700 | GeneticVariation | CLINVAR | Batten disease: evaluation of CLN3 mutations on protein localization and function. | 10749980 | 2000 | |||||
Neuronal Ceroid-Lipofuscinoses
|
0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 |