Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775414901
rs775414901
Entrez Id: 7001;10535;29911
Gene Symbol: PRDX2;RNASEH2A;HOOK2
PRDX2;RNASEH2A;HOOK2
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial
0.010 GeneticVariation BEFREE To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations. 14648077 2004