rs121912435, SOD1

N. diseases: 2
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.810 CausalMutation CLINVAR Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS. 21257910 2011
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.810 CausalMutation CLINVAR Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced in baculovirus-infected insect cells. 7891072 1995
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.810 CausalMutation CLINVAR Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519 1993
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
0.810 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195 2009