Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
G | 0.700 | CausalMutation | CLINVAR | The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. | 23539563 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. | 18684116 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. | 12376936 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. | 11339651 | 2001 |
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|
G | 0.700 | 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 | 0.700 | 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 | 0.700 | CausalMutation | CLINVAR | Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. | 10356316 | 1999 |
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|
G | 0.700 | CausalMutation | CLINVAR | Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. | 9788728 | 1998 |
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|
G | 0.700 | CausalMutation | CLINVAR | Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. | 9295267 | 1997 |
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|
A | 0.700 | GeneticVariation | CLINVAR |