Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | CausalMutation | CLINVAR | ||||||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. | 1363805 | 1992 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Frequency of the G985 MCAD mutation in the general population. | 1671131 | 1991 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. | 1684086 | 1991 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. | 1902818 | 1991 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. | 2251268 | 1990 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. | 2393404 | 1990 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. | 2394825 | 1990 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. | 7603790 | 1995 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. | 7929823 | 1994 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. | 8198141 | 1994 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? | 9158144 | 1997 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site. | 9882619 | 1999 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. | 10767181 | 2000 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. | 11349232 | 2001 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Molecular and functional characterisation of mild MCAD deficiency. | 11409868 | 2001 | |||||
Medium-chain acyl-coenzyme A dehydrogenase deficiency
|
0.800 | GeneticVariation | UNIPROT | Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. | 11486912 | 2001 |