Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia. 30090137 2019
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. 29976978 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. 27344648 2017
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN 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
0.300 Biomarker disease CLINGEN Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. 23334465 2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. 21696386 2012
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
0.300 Biomarker disease CLINGEN Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001