SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.300 CausalMutation disease CLINVAR
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.300 Biomarker disease MGD A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. 25468678 2015