Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 GeneticVariation disease BEFREE A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant. 29395179 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 GeneticVariation disease BEFREE Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. 29976978 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 Biomarker disease GENOMICS_ENGLAND Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 26345448 2015
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 CausalMutation disease CLINVAR Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 26345448 2015
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 Biomarker disease GENOMICS_ENGLAND Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. 23266820 2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 GeneticVariation disease CLINVAR A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. 23562761 2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 GeneticVariation disease BEFREE Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. 23266820 2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 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: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 GeneticVariation disease CLINVAR Siblings with leukoencephalopathy. 19073330 2008
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 GeneticVariation disease BEFREE Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 CausalMutation disease CLINVAR Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174 1999
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.640 Biomarker disease GENOMICS_ENGLAND