Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11 		0.500 Biomarker disease GENOMICS_ENGLAND Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. 18306244 2008
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.010 GeneticVariation disease BEFREE Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 19089472 2009
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6 		0.710 GermlineCausalMutation disease ORPHANET NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 15372108 2004
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		0.310 GeneticVariation disease BEFREE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		0.310 Biomarker disease GENOMICS_ENGLAND NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		0.400 GeneticVariation disease ORPHANET A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
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: 60528
Gene Symbol: ELAC2
ELAC2 		0.300 Biomarker disease GENOMICS_ENGLAND A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. 27769300 2016
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 GermlineCausalMutation disease ORPHANET A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 GeneticVariation disease CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 GeneticVariation disease UNIPROT A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. 11181577 2001
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. 11181577 2001
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.010 GeneticVariation disease BEFREE A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. 25418441 2015
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: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 GeneticVariation disease UNIPROT A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570 2008
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: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6 		0.710 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 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 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 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016