Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103

2019
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene). 30090137

2019
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. 29976978

2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. 23334465

2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN In an attempt to expand the repertoire of known mutations accounting for LS, we describe the clinical, radiological, biochemical and molecular data of six patients with LS found to have novel mutations in two complex I subunits (NDUFV1 and NDUFS2). 23266820

2013
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker 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
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299

2009
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.330 Biomarker CLINGEN Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233

2001