IDUA, alpha-L-iduronidase, 3425
N. diseases: 258; N. variants: 110
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.720 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. | 1301196 | 1992 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. | 1301941 | 1992 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. | 19751987 | 2010 | ||||||
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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 | 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 | 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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0.700 | 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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0.700 | 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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0.700 | 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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0.700 | 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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0.700 | 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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0.700 | 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 | Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. | 10735634 | 2000 |