rs121912445, SOD1

N. diseases: 4
Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
0.020 GeneticVariation BEFREE Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions. 27444855 2017
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
0.020 GeneticVariation BEFREE We report clinical characteristics of familial amyotrophic lateral sclerosis (FALS) with 4 different missense point mutations in exons 2, 4, and 5 of the Cu/Zn superoxide dismutase (SOD) gene, that result in amino acid substitutions of histidine46 by arginine (H46R), leucine84 by valine (L84V), isoleucine104 by phenylalanine (I104F), and valine148 by isoleucine (V148I), in 5 Japanese families. 8815157 1996