Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | GeneticVariation | CLINVAR | The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. | 24718418 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. | 24718418 | 2014 |
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G | 0.700 | CausalMutation | CLINVAR | MCAD deficiency in Denmark. | 22542437 | 2012 |
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G | 0.700 | GeneticVariation | CLINVAR | MCAD deficiency in Denmark. | 22542437 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. | 20434380 | 2010 |
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G | 0.700 | CausalMutation | CLINVAR | Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. | 19224950 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. | 19780764 | 2009 |
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G | 0.700 | GeneticVariation | CLINVAR | Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. | 19224950 | 2009 |
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G | 0.700 | GeneticVariation | CLINVAR | Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. | 15832312 | 2005 |