MPO, myeloperoxidase, 4353
N. diseases: 653; N. variants: 25
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.810 | GeneticVariation | BEFREE | Thus far four mutations (R569W, Y173C, M251T and a 14-base deletion in exon 9) have been identified in patients with MPO deficiency. | 9766847 | 1998 | |||||||
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0.810 | GeneticVariation | BEFREE | We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency. | 8621627 | 1996 | |||||||
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A | 0.810 | CausalMutation | CLINVAR | |||||||||
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0.810 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.810 | CausalMutation | CLINVAR | |||||||||
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0.810 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | Genetic characterization of myeloperoxidase deficiency in Italy. | 15108282 | 2004 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Clinical manifestation of myeloperoxidase deficiency. | 9766845 | 1998 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Hereditary myeloperoxidase deficiency. | 6260268 | 1981 | ||||||
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C | 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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G | 0.700 | CausalMutation | CLINVAR |