FDX2, ferredoxin 2, 112812

N. diseases: 20; N. variants: 3
Disease: Mitochondrial Myopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 GeneticVariation group CLINVAR A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 GeneticVariation group UNIPROT A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 Biomarker group GENOMICS_ENGLAND A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 Biomarker group GENOMICS_ENGLAND We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III. 24281368 2014
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 GeneticVariation group UNIPROT We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III. 24281368 2014
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 Biomarker group BEFREE We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III. 24281368 2014
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 Biomarker group HPO
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.710 Biomarker group CTD_human