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

2015
dbSNP: rs886039261
rs886039261
DEPDC5
T 0.700 CausalMutation CLINVAR Epileptic spasms are a feature of DEPDC5 mTORopathy. 27066554

2015
dbSNP: rs587776973
rs587776973
DEPDC5
T 0.700 CausalMutation CLINVAR Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified. 23869883

2013
dbSNP: rs587776973
rs587776973
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697

2013
dbSNP: rs1372605067
rs1372605067
DEPDC5
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569232705
rs1569232705
DEPDC5
G 0.700 CausalMutation CLINVAR