Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.620 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.620 Biomarker GENOMICS_ENGLAND Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1. 25615419

2015
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.620 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.620 GermlineCausalMutation 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
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.620 GermlineCausalMutation ORPHANET Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. 20382551

2010
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.620 Biomarker GENOMICS_ENGLAND