| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. | 9425237 | 1998 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. | 9425237 | 1998 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. | 9664077 | 1998 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. | 9733046 | 1998 |
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|
T | 0.700 | CausalMutation | CLINVAR | The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. | 10191109 | 1999 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Neuronal ceroid lipofuscinoses: research update. | 11073228 | 2000 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. | 11440996 | 2001 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. | 21704547 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. | 23539563 | 2013 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. | 24997880 | 2014 |