SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912444
rs121912444
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation BEFREE These results suggest that the Ala4Thr mutation in SOD1 decreases the stability of SOD1 and that this instability may play an important role in the pathogenesis of the degeneration of motor neurons in FALS. 8830861 1996
dbSNP: rs121912444
rs121912444
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.820 GeneticVariation BEFREE We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family. 8179602 1994