Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
0.310 GeneticVariation disease BEFREE DEPDC5 loss-of-function mutations were found in 13% of the families with a presentation of ADNFLE. 24814846 2014
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
0.310 GermlineCausalMutation disease ORPHANET Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
0.310 GermlineCausalMutation disease ORPHANET Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013