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 | 0.710 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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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 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.710 | GeneticVariation | BEFREE | According to a cystinosis clinical severity score, homozygotes for the 65-kb deletion and for W138X have average disease, whereas mutations involving the first amino acids prior to transmembrane domains are associated with mild disease. | 9792862 | 1998 | |||||||
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G | 0.710 | CausalMutation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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G | 0.710 | CausalMutation | 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 | 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 | ||||||
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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 | GeneticVariation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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CG | 0.700 | CausalMutation | CLINVAR | CTNS mutations in an American-based population of cystinosis patients. | 9792862 | 1998 | ||||||
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CG | 0.700 | GeneticVariation | 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 |