Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167423
rs1114167423
APTX
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		A 0.700 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017