Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
0.010 GeneticVariation disease BEFREE Genetic testing for CMS revealed a homozygous pathogenic mutation in the rapsyn (RAPSN) gene (p.Asn88Lys). 27397848 2017