| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. | 25574475 | 2014 |
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|
0.710 | GeneticVariation | BEFREE | Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. | 16720047 | 2006 |
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|
A | 0.710 | 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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|
A | 0.710 | CausalMutation | CLINVAR | Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. | 9664077 | 1998 |