SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Motor Neuron Disease, Lower ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912442
rs121912442
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C0270764
Disease:
Motor Neuron Disease, Lower 		0.010 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
dbSNP: rs774994509
rs774994509
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0270764
Disease:
Motor Neuron Disease, Lower 		0.010 GeneticVariation BEFREE This study shows that SOD1 G93D mutation causes a slowly developing lower motor neuron disease with a reduced penetrance. 18273717 2008