| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 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 | CausalMutation | CLINVAR | Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. | 18283468 | 2008 |
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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 |
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|
A | 0.700 | CausalMutation | CLINVAR | The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. | 23539563 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | We analyzed the functional consequences of the mutations R127Q, R208X, N286S, I287N, T353P and Q422H, which were previously identified in patients with late infantile ceroid lipofuscinosis, with regard to enzymatic activity, stability, post-translational processing and intracellular localization of tripeptidyl-peptidase I. | 15317752 | 2004 |