| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. | 19782624 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes. | 18752446 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. | 16609684 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. | 15635077 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. | 16138908 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation analysis of SLC7A9 in cystinuria patients in Sweden. | 12820697 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. | 12234283 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | SLC7A9 mutations in all three cystinuria subtypes. | 12371955 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. | 11157794 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. | 10471498 | 1999 |
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|
T | 0.800 | CausalMutation | CLINVAR |