CTNS, cystinosin, lysosomal cystine transporter, 1497
N. diseases: 88; N. variants: 71
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. | 15128704 | 2004 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | New aspects of the pathogenesis of cystinosis. | 12644911 | 2003 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | New aspects of the pathogenesis of cystinosis. | 12644911 | 2003 | ||||||
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CC | 0.700 | GeneticVariation | CLINVAR | New aspects of the pathogenesis of cystinosis. | 12644911 | 2003 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. | 12442267 | 2002 | ||||||
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CG | 0.700 | CausalMutation | CLINVAR | Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. | 12442267 | 2002 | ||||||
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CG | 0.700 | CausalMutation | CLINVAR | Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. | 12204010 | 2002 | ||||||
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TA | 0.700 | GeneticVariation | CLINVAR | Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. | 12204010 | 2002 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in African American patients with cystinosis. | 11708862 | 2001 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. | 11505338 | 2001 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany. | 11562417 | 2001 | ||||||
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CC | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in African American patients with cystinosis. | 11708862 | 2001 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | The ocular cystinosis patients each had one severe mutation and one mild mutation, the latter consisting of either a 928 G-->A (G197R) mutation or an IVS10-3 C-->G splicing mutation resulting in the insertion of 182 bp of IVS10 into the CTNS mRNA. | 10625078 | 2000 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in patients with cystinosis. | 10571941 | 1999 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | 10556299 | 1999 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | 10556299 | 1999 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | 10556299 | 1999 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | 10556299 | 1999 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | 10556299 | 1999 | ||||||
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CC | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in patients with cystinosis. | 10571941 | 1999 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | 10556299 | 1999 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 |