Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
0.110 GeneticVariation phenotype BEFREE We present a case of congenital myasthenic syndrome with I336T choline acetyltransferase mutation who presented with numerous attacks of respiratory distress in the infancy period. 19289695 2009