FDX2, ferredoxin 2, 112812

N. diseases: 20; N. variants: 3
Disease: Mitochondrial Myopathies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs888630930
rs888630930
Entrez Id: 112812;100125288
Gene Symbol: FDX2;ZGLP1
FDX2;ZGLP1
CUI: C0162670
Disease:
Mitochondrial Myopathies 		0.800 GeneticVariation UNIPROT A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796 2018
dbSNP: rs888630930
rs888630930
Entrez Id: 112812;100125288
Gene Symbol: FDX2;ZGLP1
FDX2;ZGLP1
CUI: C0162670
Disease:
Mitochondrial Myopathies 		A 0.800 GeneticVariation CLINVAR A novel complex neurological phenotype due to a homozygous mutation in FDX2. 30010796 2018
dbSNP: rs888630930
rs888630930
Entrez Id: 112812;100125288
Gene Symbol: FDX2;ZGLP1
FDX2;ZGLP1
CUI: C0162670
Disease:
Mitochondrial Myopathies 		0.800 GeneticVariation UNIPROT Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. 24281368 2014