| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. | 24058541 | 2013 |
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C | 0.700 | CausalMutation | CLINVAR | Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. | 24038957 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. | 20052765 | 2010 |
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|
C | 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 | Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). | 10953198 | 2000 |
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|
C | 0.700 | CausalMutation | CLINVAR | CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. | 9662406 | 1998 |