rs374514431, NFU1

N. diseases: 2
Disease: Idiopathic pulmonary arterial hypertension ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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