Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		0.010 GeneticVariation BEFREE The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. 28753255

2018