Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54840
Gene Symbol: APTX
APTX
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.200 CausalMutation CLINVAR Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia. 28652255

2017