Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E
0.300 Biomarker disease GENOMICS_ENGLAND De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. 30343943 2018