Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 GeneticVariation CLINVAR Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? 30025539

2018
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 GeneticVariation CLINVAR Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation. 28529009

2017
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 GeneticVariation CLINVAR High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. 26669660

2016
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 GeneticVariation CLINVAR Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. 25721401

2015
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		0.600 CausalMutation CLINVAR