NFU1, NFU1 iron-sulfur cluster scaffold, 27247

N. diseases: 25; N. variants: 8
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776875884
rs776875884
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 GeneticVariation UNIPROT Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway. 28161430 2017
dbSNP: rs776875884
rs776875884
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 GeneticVariation UNIPROT Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1. 28906594 2017
dbSNP: rs776875884
rs776875884
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 GeneticVariation UNIPROT Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. 25918518 2015
dbSNP: rs776875884
rs776875884
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 GeneticVariation 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
dbSNP: rs776875884
rs776875884
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.700 GeneticVariation UNIPROT A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. 22077971 2011