Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
0.500 GermlineCausalMutation disease ORPHANET Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. 26008862 2015
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
0.500 GermlineCausalMutation disease ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
0.500 GermlineCausalMutation disease ORPHANET Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. 12754703 2003