Gene: NDUFS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease 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 		0.620 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 GermlineCausalMutation disease 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 		0.620 GermlineCausalMutation disease 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 		0.620 GeneticVariation disease BEFREE Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. 15824269 2005
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease BEFREE Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 CausalMutation disease CLINVAR
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 GeneticVariation disease CLINVAR
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 Biomarker disease GENOMICS_ENGLAND