| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. | 29272804 | 2018 | ||||
|
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 | ||||
|
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 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
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 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. | 21596602 | 2011 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. | 21596602 | 2011 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. | 19185523 | 2009 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. | 19185523 | 2009 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. | 17262856 | 2007 |