Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease GENOMICS_ENGLAND Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. 29272804 2018
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease GENOMICS_ENGLAND Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. 28247337 2017
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease MGD An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases. 28506826 2017
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 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: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease GENOMICS_ENGLAND Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 GermlineCausalMutation disease ORPHANET Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 GermlineCausalMutation disease ORPHANET A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. 19185523 2009
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease GENOMICS_ENGLAND A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. 19185523 2009
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 GermlineCausalMutation disease ORPHANET X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007
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
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease GENOMICS_ENGLAND Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. 25615419 2015