Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia
0.010 GeneticVariation BEFREE A 12-year-old male with congenital sick sinus syndrome (SSS), cardiac conduction disorder (CCD), and recurrent monomorphic ventricular tachycardia (VT) had mutational analysis that identified a 4 base pair deletion (TCTG) at position 5464-5467 in exon 28 of SCN5A. 17897635

2007