Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 728378
Gene Symbol: POTEF
POTEF
0.010 GeneticVariation disease BEFREE The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. 27862284 2017