Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. 29272804 2018
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		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
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. 19185523 2009
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. 19185523 2009
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.600 GeneticVariation disease UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.600 CausalMutation disease CLINVAR
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker group BEFREE Two of these are X-chromosome linked nuclear (nDNA) genes (NDUFA1 and NDUFB11), and 7 are mitochondrial (mtDNA, MT-ND1-6, -4L) genes, which may be responsible for sex-dependent variation in the presentation of mitochondrial diseases. 28506826 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker group GENOMICS_ENGLAND Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 21596602 2011
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker group BEFREE Using a ribozyme designed to degrade the mRNA encoding a critical nuclear-encoded subunit gene of complex I (NDUFA1), we tested whether oxidative phosphorylation deficiency can recapitulate the optic neuropathy of mitochondrial disease. 12557286 2003
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.330 Biomarker group BEFREE Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases. 3136150 1988
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 Biomarker disease CLINGEN In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed. 29506883 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 GeneticVariation disease BEFREE In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed. 29506883 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 Biomarker disease CLINGEN Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. 28429146 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 Biomarker disease CLINGEN An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases. 28506826 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 Biomarker disease CLINGEN Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.320 Biomarker disease CLINGEN New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders. 25356405 2014