Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777459
rs587777459
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
CUI: C4551983
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
T 0.700 CausalMutation CLINVAR DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 24814846 2014
dbSNP: rs587777459
rs587777459
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
CUI: C4551983
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
T 0.700 CausalMutation CLINVAR Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013