Disease: Epilepsy, Familial Mesial Temporal Lobe ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039256
rs886039256
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
CUI: C1968848
Disease:
Epilepsy, Familial Mesial Temporal Lobe 		0.010 GeneticVariation BEFREE We identified a DEPDC5 nonsense mutation (c.918C>G; p.Tyr306*) in a family with two affected members, clinically classified as FMTLE. 26216793 2015