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: rs374514431
rs374514431
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.810 GeneticVariation 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
dbSNP: rs374514431
rs374514431
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		A 0.810 CausalMutation CLINVAR
dbSNP: rs374514431
rs374514431
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
CUI: C3276432
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 		0.810 GeneticVariation UNIPROT