Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776973
rs587776973
DEPDC5
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. 26000329

2015
dbSNP: rs587776973
rs587776973
DEPDC5
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697

2013
dbSNP: rs587776973
rs587776973
DEPDC5
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified. 23869883

2013