rs374514431, NFU1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
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
Idiopathic pulmonary arterial hypertension
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
0.010 GeneticVariation BEFREE Patients with autosome recessive inheritance of NFU1 mutation G208C have reduced activity of the respiratory chain complex II, lipoic-acid dependent enzymes, and develop pulmonary arterial hypertension (PAH) in ~ 70% of cases. 31461310 2020
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
0.810 CausalMutation CLINVAR
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
CUI: C3276432
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
0.810 GeneticVariation UNIPROT