Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612

2019
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916

2015