| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. | 12189165 | 2002 |
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|
A | 0.800 | GeneticVariation | CLINVAR | A yeast model for the study of Batten disease. | 9618513 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. | 9490299 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. | 22261744 | 2012 |
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|
A | 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 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in the Batten disease gene, CLN3. | 9311735 | 1997 |
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|
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 |
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|
A | 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 |
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|
A | 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 |