| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism. | 23144459 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. | 18593870 | 2008 | |||||||
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0.800 | GeneticVariation | UNIPROT | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 14732903 | 2004 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy. | 29526615 | 2018 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. | 26917598 | 2016 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. | 19136963 | 2009 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. | 18593870 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | ETHE1 mutations are specific to ethylmalonic encephalopathy. | 16183799 | 2006 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 14732903 | 2004 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 14732903 | 2004 | ||||||
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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 | |||||||||
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CT | 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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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |