SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80265967
rs80265967
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.030 GeneticVariation BEFREE Familial amyotrophic lateral sclerosis (ALS) with the autosomal-recessively inherited D90A CuZn-superoxide dismutase (CuZn-SOD) mutation is characterized by a stereotypic slowly progressive, distinctive phenotype and very slow central motor conduction. 11150970 2001
dbSNP: rs80265967
rs80265967
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.030 GeneticVariation BEFREE Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country. 10809943 2000
dbSNP: rs80265967
rs80265967
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.030 GeneticVariation BEFREE Expression, purification, and characterization of a familial amyotrophic lateral sclerosis-associated D90A Cu,Zn-superoxide dismutase mutant. 9749537 1998