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 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 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 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 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 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 GermlineCausalMutation disease ORPHANET Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11 		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: 126328
Gene Symbol: NDUFA11
NDUFA11 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 126328
Gene Symbol: NDUFA11
NDUFA11 		0.500 GermlineCausalMutation disease ORPHANET Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. 18306244 2008
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: 51079
Gene Symbol: NDUFA13
NDUFA13 		0.100 CausalMutation disease CLINVAR Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 25901006 2015
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6 		0.310 GeneticVariation disease BEFREE Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6 		0.310 GermlineCausalMutation disease ORPHANET Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		0.500 GermlineCausalMutation disease ORPHANET Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. 17557076 2007
Entrez Id: 51103
Gene Symbol: NDUFAF1
NDUFAF1 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 Biomarker disease GENOMICS_ENGLAND 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: 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 Biomarker disease GENOMICS_ENGLAND Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010
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: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		0.500 Biomarker disease GENOMICS_ENGLAND Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 19463981 2009