Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103

2019
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD. 30429455

2018
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN 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: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency. 17604671

2007
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. 15269216

2004
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.550 Biomarker CLINGEN We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome. 10360771

1999