Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | GWASCAT | Genetic analyses of diverse populations improves discovery for complex traits. | 31217584 | 2019 | |||||||
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A | 0.700 | GeneticVariation | GWASCAT | Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. | 30617256 | 2019 | ||||||
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0.700 | GeneticVariation | UNIPROT | Homozygous variegate porphyria presenting with developmental and language delay in childhood. | 24073655 | 2013 | |||||||
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0.700 | GeneticVariation | UNIPROT | Quantitative structural insight into human variegate porphyria disease. | 23467411 | 2013 | |||||||
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0.700 | GeneticVariation | UNIPROT | Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. | 23430901 | 2012 | |||||||
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0.700 | GeneticVariation | UNIPROT | Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate. | 19320019 | 2009 | |||||||
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0.700 | GeneticVariation | UNIPROT | Genetic and biochemical studies in Argentinean patients with variegate porphyria. | 18570668 | 2008 | |||||||
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0.700 | GeneticVariation | UNIPROT | A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. | 16433813 | 2006 | |||||||
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0.700 | GeneticVariation | UNIPROT | Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. | 16922948 | 2006 | |||||||
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0.700 | GeneticVariation | UNIPROT | Variegate porphyria in Western Australian Aboriginal patients. | 12380696 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria. | 12859407 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene. | 12655566 | 2003 | |||||||
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0.700 | GeneticVariation | UNIPROT | A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. | 11348478 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. | 11474578 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria. | 11350188 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. | 11286631 | 2001 | |||||||
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0.700 | GeneticVariation | UNIPROT | Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria. | 11074242 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria. | 11102990 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. | 10870850 | 2000 | |||||||
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0.700 | GeneticVariation | UNIPROT | Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene. | 9541112 | 1998 | |||||||
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0.700 | GeneticVariation | UNIPROT | A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. | 8673113 | 1996 | |||||||
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0.700 | GeneticVariation | UNIPROT | Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. | 8817334 | 1996 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |