Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. 29366381

2018