Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation UNIPROT A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease. 26173962

2016
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation UNIPROT Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders. 27178839

2016
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation UNIPROT Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. 26004228

2015
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation UNIPROT Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. 22019070

2011
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
CUI: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		0.700 GeneticVariation UNIPROT Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. 20362274

2010