rs1114167423, APTX

N. diseases: 6
Disease: Cerebellar Ataxia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255 2017