Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? 30025539 2018
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation. 28529009 2017
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. 26669660 2016
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. 25721401 2015
dbSNP: rs863224844
rs863224844
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
CUI: C4747517
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 		C 0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637 2014