SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.020 Biomarker disease BEFREE Muscle biopsies from 5 cases of Werdnig-Hoffmann disease and 4 cases of ALS were investigated by histology and electronmicroscopy. 1274524 1976
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		0.020 Biomarker disease BEFREE Contrary to contention that Onuf nucleus is spared in Werdnig-Hoffmann disease (WHD) as it is in ALS, we found central chromatolysis in the Onuf neurons of the sacral cord from all five WHD patients. 7201584 1982