Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
0.140 GeneticVariation phenotype BEFREE Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic acidosis and cardiomyopathy. 30025539 2018
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
0.140 GeneticVariation phenotype BEFREE Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. 28279569 2017
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
0.140 GeneticVariation phenotype BEFREE We describe the first autopsy in fatal neonatal lethal lactic acidosis due to mutations in ACAD9 that reduced complex I activity. 26826406 2016
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
0.140 GeneticVariation phenotype BEFREE One infant with severe lactic acidosis was found to carry two heterozygous variants in ACAD9, which was associated with isolated complex I deficiency and diffuse hypergranular hepatocytes. 27483465 2016
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
0.140 Biomarker phenotype HPO