SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Hippocampal sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 Biomarker disease BEFREE Using a recently described repeat-associated non-ATG (RAN) translation (C9RANT) antibody that was found to be highly specific for c9FTD/ALS, we identified a single "pure" HpScl autopsy case with a repeat expansion in C9ORF72 (c9HpScl). 23922030 2013