Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
0.510 GeneticVariation disease BEFREE Mutations of the calcium channel β(4) subunit gene (CACNB4) cause juvenile myoclonic epilepsy in humans and ataxia and epileptic seizures in mice. 24875574 2014
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
0.510 GermlineCausalMutation disease ORPHANET The quest for juvenile myoclonic epilepsy genes. 23756480 2013
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
0.510 Biomarker disease CTD_human Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 10762541 2000