| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.810 | GeneticVariation | BEFREE | This is further supported by overexpression of a CLN5 patient mutant D279N and a glycosylation mutant N401Q, showing that the C-terminal processing takes place beyond the endoplasmic reticulum, and can occur as early as from the trans Golgi network. | 26342652 | 2015 | |||||||
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0.010 | GeneticVariation | BEFREE | We identified a missense variant in CLN5 c.A959G (p.Asn320Ser) that segregated with AD. | 30037983 | 2018 | |||||||
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0.010 | GeneticVariation | BEFREE | We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset. | 17607606 | 2007 | |||||||
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0.010 | GeneticVariation | BEFREE | We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset. | 17607606 | 2007 | |||||||
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A | 0.810 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | GeneticVariation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | GeneticVariation | CLINVAR | |||||||||
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C | 0.800 | GeneticVariation | CLINVAR | |||||||||
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T | 0.800 | GeneticVariation | CLINVAR | |||||||||
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C | 0.800 | GeneticVariation | CLINVAR | |||||||||
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G | 0.800 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). | 10953198 | 2000 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. | 12134079 | 2002 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. | 24038957 | 2013 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. | 18684116 | 2008 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GTGGATCCGGGC | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR |