rs398124286, SETX

N. diseases: 2
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
0.700 CausalMutation CLINVAR Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage. 24814856 2014
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
0.700 CausalMutation CLINVAR Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 19141356 2009