Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.130 Biomarker phenotype BEFREE Clinicians should use a combination of EMG and MUS for the detection and quantitative analysis of fasciculation in ALS. 31506234 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.130 Biomarker phenotype BEFREE To describe the fasciculation pattern in ALS and to analyse its clinical and pathophysiological significance. 30292684 2018
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.130 GeneticVariation phenotype BEFREE We identified a novel mutation in SOD1 in a man who presented at age 49 with lower limb stiffness, and at age 53, a spastic paraparesia with distal muscular atrophy in the lower limbs and fasciculations in the quadriceps.A diagnosis of ALS was established. 23954173 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
0.130 Biomarker phenotype HPO