| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | 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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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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AG | 0.700 | CausalMutation | CLINVAR | |||||||||
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GGC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations. | 14648077 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. | 16845400 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
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0.800 | GeneticVariation | UNIPROT | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular phenotype of Aicardi-Goutieres syndrome. | 17846997 | 2007 |