Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation CLINVAR