Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.010 GeneticVariation disease BEFREE To the best of our knowledge, this is the first confirmed case of late-onset ES occur in patients with 22q13.3 deletion syndrome with a SHANK3 deletion. 26094094 2016