Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. | 21394825 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. | 15300847 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. | 12559846 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. | 10735634 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. | 10466419 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). | 7550232 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. | 7550242 | 1995 |
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|
0.800 | GeneticVariation | UNIPROT | Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene. | 8401515 | 1993 |
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|
C | 0.800 | CausalMutation | CLINVAR |