| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. | 23266810 | 2013 |
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|
A | 0.700 | CausalMutation | 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 | 0.700 | CausalMutation | CLINVAR | Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. | 20340139 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. | 10330339 | 1999 |