rs1114167423, APTX

N. diseases: 6
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
CUI: C1859598
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255 2017