NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 Biomarker disease BEFREE Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1), MMDS2 (BOLA3), MMDS3 (IBA57) and MMDS4 (ISCA2). 29767723 2018
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease BEFREE Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (p.Gly189Arg) near the active site of NFU1, an Fe/S scaffold protein. 28906594 2017
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease BEFREE Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (Gly208Cys) near the active site of NFU1, an Fe/S scaffold protein, via an in vitro investigation into the structural and functional consequences. 28161430 2017
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 Biomarker disease BEFREE Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers. 28470589 2017
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease UNIPROT Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (p.Gly189Arg) near the active site of NFU1, an Fe/S scaffold protein. 28906594 2017
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease UNIPROT Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (Gly208Cys) near the active site of NFU1, an Fe/S scaffold protein, via an in vitro investigation into the structural and functional consequences. 28161430 2017
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease UNIPROT Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. 25918518 2015
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GermlineCausalMutation disease ORPHANET Lipoic acid biosynthesis defects. 24777537 2014
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GermlineCausalMutation disease ORPHANET Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. 24334290 2014
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease UNIPROT A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. 22077971 2011
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 GeneticVariation disease UNIPROT Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. 21944046 2011
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. 11156534 2001
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 CausalMutation disease CLINVAR
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.740 Biomarker disease GENOMICS_ENGLAND