| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 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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|
T | 0.800 | GeneticVariation | CLINVAR | Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. | 19038966 | 2009 |
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|
T | 0.800 | CausalMutation | CLINVAR | Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. | 19038966 | 2009 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. | 19038967 | 2009 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner. | 19246452 | 2009 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. | 10330339 | 1999 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. | 10330339 | 1999 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. | 9295267 | 1997 |
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|
T | 0.800 | CausalMutation | CLINVAR | Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. | 9295267 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT |