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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A | 0.700 | CausalMutation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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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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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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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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G | 0.700 | CausalMutation | 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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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 | Analysis of the CTNS gene in 32 cystinosis patients from Spain. | 19863563 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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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 | Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. | 15128704 | 2004 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. | 27625850 | 2013 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. | 9537412 | 1998 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene. | 26266097 | 2015 | ||||||
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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 | New aspects of the pathogenesis of cystinosis. | 12644911 | 2003 | ||||||
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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 | |||||||||
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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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A | 0.700 | GeneticVariation | CLINVAR | Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. | 15128704 | 2004 |