SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: SPINOCEREBELLAR ATAXIA 32 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151343
Disease: SPINOCEREBELLAR ATAXIA 32
SPINOCEREBELLAR ATAXIA 32 		0.010 Biomarker disease BEFREE Relevant diseases include, among others, myotonic dystrophy type 1 (DM1) with CUG repeats, Huntington's disease (HD) and spinocerebellar ataxia type 3 (SCA3) with CAG repeats, fragile X-associated tremor/ataxia syndrome (FXTAS) with CGG repeats, myotonic dystrophy type 2 (DM2) with CCUG repeats, amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) with GGGGCC repeats and spinocerebellar ataxia type 32 (SCA32) with GGCCUG. 26615955 2016