Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943

2018