SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis
0.020 GeneticVariation disease BEFREE Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. 21929355 2012
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis
0.020 Biomarker disease BEFREE We describe a novel case of SOD1 (A4V)-mediated ALS that presented with lower motor neuron facial diplegia and unilateral vocal cord paralysis. 19618436 2009