| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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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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0.800 | GeneticVariation | UNIPROT | The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. | 24058541 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. | 16814585 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. | 26342652 | 2015 | |||||||
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0.800 | GeneticVariation | UNIPROT | Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. | 24038957 | 2013 | |||||||
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0.800 | GeneticVariation | UNIPROT | A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. | 15728307 | 2005 | |||||||
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C | 0.800 | GeneticVariation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | 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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0.800 | GeneticVariation | UNIPROT | The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. | 20052765 | 2010 | |||||||
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0.800 | GeneticVariation | UNIPROT | CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. | 9662406 | 1998 | |||||||
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0.800 | GeneticVariation | UNIPROT | Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. | 17607606 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship. | 19309691 | 2009 | |||||||
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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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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.800 | GeneticVariation | UNIPROT | The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. | 24058541 | 2013 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. | 21990111 | 2012 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. | 26342652 | 2015 |