| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. | 25153125 | 2014 |
||||
|
0.700 | GeneticVariation | UNIPROT | Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. | 14695530 | 2004 |
||||
|
0.700 | GeneticVariation | UNIPROT | Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. | 11829139 | 2002 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. | 11279074 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Molecular and structural studies of Japanese patients with sialidosis type 1. | 10944856 | 2000 |
||||
|
0.700 | GeneticVariation | UNIPROT | Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. | 11063730 | 2000 |
||||
|
0.700 | GeneticVariation | UNIPROT | Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. | 10767332 | 2000 |
||||
|
0.700 | GeneticVariation | UNIPROT | Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. | 9054950 | 1997 |
||||
|
0.700 | GeneticVariation | UNIPROT | Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. | 8985184 | 1996 |