| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. | 26947917 | 2016 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. | 26947917 | 2016 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency. | 24623196 | 2014 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. | 20434380 | 2010 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. | 19649258 | 2009 |
|||
|
T | 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 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells. | 8535441 | 1995 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. | 7730333 | 1995 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). | 8102510 | 1993 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). | 8102510 | 1993 |