Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs888630930
rs888630930
FDX2 ; ZGLP1
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.800 GeneticVariation UNIPROT A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796

2018
dbSNP: rs888630930
rs888630930
FDX2 ; ZGLP1
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.800 GeneticVariation UNIPROT Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. 24281368

2014
dbSNP: rs587777600
rs587777600
FDX2 ; RAVER1
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 GeneticVariation UNIPROT A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796

2018
dbSNP: rs587777600
rs587777600
FDX2 ; RAVER1
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 GeneticVariation UNIPROT Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. 24281368

2014