SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Facial onset sensory and motor neuronopathy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4509818
Disease: Facial onset sensory and motor neuronopathy syndrome
Facial onset sensory and motor neuronopathy syndrome 		0.010 GeneticVariation disease BEFREE Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis. 24591457 2014