Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype HPO