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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103

2019
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. 17604671

2007
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 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: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. 10360771

1999