| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Cystinuria. | 21863055 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Cystinuria. | 21863055 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Cystinuria. | 21863055 | 2012 | |||||||
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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 | 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 | 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 | 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 | 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 | 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 | Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. | 16138908 | 2005 | |||||||
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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 | 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 | Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. | 12234283 | 2002 | |||||||
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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 | Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. | 12234283 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. | 11748844 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. | 11748844 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. | 11748844 | 2001 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. | 10738006 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. | 10738006 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. | 10738006 | 2000 | |||||||
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0.800 | GeneticVariation | UNIPROT | Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. | 9186880 | 1997 |