| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. | 17764084 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. | 15756301 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | We performed the mutation analysis in seven probands from five unrelated LPI families and identified five novel SLC7A7 mutations (p.M50K, p.T188I, p.R333M, p.Y457X, and c.499+?_629-?). | 15776427 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. | 12402335 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. | 10631139 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). | 10655553 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. | 10080182 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. | 9829974 | 1998 |
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|
A | 0.800 | GeneticVariation | CLINVAR |