Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome
0.010 GeneticVariation disease BEFREE The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. 28753255 2018