Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039246
rs886039246
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
CUI: C4551983
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		A 0.700 CausalMutation CLINVAR Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 24585383 2014
dbSNP: rs886039246
rs886039246
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
CUI: C4551983
Disease:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		A 0.700 CausalMutation CLINVAR Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013