Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		0.330 GeneticVariation BEFREE We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. 22670881

2012
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		0.330 GeneticVariation BEFREE The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America.This mutation is rare in Europe. 19176896

2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		0.330 GeneticVariation BEFREE This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance. 18273717

2008
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		0.330 Biomarker CTD_human Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen. 16702190

2006