Disease: Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.020 GeneticVariation disease BEFREE A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder. 29790814 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.020 GeneticVariation disease BEFREE Homozygous recessive mutations in the PRICKLE1 gene were originally reported in three consanguineous families with myoclonic epilepsy. 26727662 2015