SET, SET nuclear proto-oncogene, 6418

N. diseases: 183; N. variants: 5
Disease: Syncope ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039070
Disease: Syncope
Syncope 		0.010 GeneticVariation phenotype BEFREE Results According to whole exome sequencing, we identified a de novo mutation (c.814T>C/p.F272L) of SET and MYND domain containing histone methyltransferase 1 (SMYD1) in a Chinese patient with HCM exhibiting syncope. 30205637 2019