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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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 | Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. | 12204010 | 2002 | ||||||
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G | 0.710 | CausalMutation | CLINVAR | Analysis of the CTNS gene in 32 cystinosis patients from Spain. | 19863563 | 2009 | ||||||
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0.710 | GeneticVariation | BEFREE | We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. | 27269891 | 2016 | |||||||
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G | 0.710 | CausalMutation | CLINVAR | Genetic basis of cystinosis in Turkish patients: a single-center experience. | 21786142 | 2012 | ||||||
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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 | CausalMutation | CLINVAR | Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. | 18752449 | 2008 | ||||||
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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 | 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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A | 0.700 | GeneticVariation | CLINVAR | Non-invasive measurements of atherosclerosis in adult cystinosis patients. | 21305353 | 2011 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. | 26489029 | 2016 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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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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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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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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A | 0.700 | CausalMutation | CLINVAR | Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. | 15128704 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A co-occurrence of osteogenesis imperfecta type VI and cystinosis. | 22528245 | 2012 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin. | 22232659 | 2012 | ||||||
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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 |