Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.710 | GeneticVariation | BEFREE | Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies. | 28464005 | 2017 |
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A | 0.710 | CausalMutation | CLINVAR | Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies. | 28464005 | 2017 |
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|
A | 0.710 | CausalMutation | CLINVAR | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. | 26795593 | 2016 |
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|
A | 0.710 | CausalMutation | CLINVAR | The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. | 23539563 | 2013 |
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A | 0.710 | CausalMutation | 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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|
A | 0.710 | CausalMutation | CLINVAR | Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. | 15317752 | 2004 |
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A | 0.710 | CausalMutation | CLINVAR | R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. | 12950156 | 2003 |
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|
A | 0.710 | 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 | 0.710 | CausalMutation | CLINVAR | Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. | 9788728 | 1998 |
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|
A | 0.710 | CausalMutation | CLINVAR | Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. | 9295267 | 1997 |