Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyotrophic Lateral Sclerosis, Familial
0.060 GeneticVariation BEFREE These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A53T mutant alpha-synuclein (alpha-SynA53T; PD), full-length mutant atrophin-1-65Q, and htt-N171-82Q (huntingtin N-terminal fragment; HD). 17316906 2008
Amyotrophic Lateral Sclerosis, Familial
0.060 GeneticVariation BEFREE The G37R copper-zinc superoxide dismutase (SOD1) is one of the many mutant SOD1 proteins known to cause familial amyotrophic lateral sclerosis by an unknown mechanism. 17683122 2007
Amyotrophic Lateral Sclerosis, Familial
0.060 GeneticVariation BEFREE Activation of caspase-1 and caspase-3 is observed also in neuroblastoma lines expressing other fALS-SOD1s (G37R, G85R, and I113T) cocultured with glioblastoma lines expressing the corresponding mutant enzymes. 15208263 2004
Amyotrophic Lateral Sclerosis, Familial
0.060 GeneticVariation BEFREE Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associated with familial amyotrophic lateral sclerosis (FALS), produced similar, but more severe changes, i.e. even lower growth rates, higher lipid peroxidation, 3-nitrotyrosine and protein carbonyl levels, decreased GSH levels, raised GSSG levels and higher glutathione peroxidase activities. 11181815 2001
Amyotrophic Lateral Sclerosis, Familial
0.060 GeneticVariation BEFREE We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant. 9425258 1997
Amyotrophic Lateral Sclerosis, Familial
0.060 GeneticVariation BEFREE High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were previously shown to mediate disease in mice through an acquired toxic property. 9052802 1997