Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | 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 | Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. | 19807737 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. | 19201763 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. | 26443629 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. | 19431184 | 2009 |
||||
|
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 | Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. | 16570191 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. | 15024724 | 2004 |