| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. | 22532218 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. | 20157158 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. | 20960652 | 2008 |