Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016 2016
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 26704558 2016
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. 25366275 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. 26000329 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Epileptic spasms are a feature of DEPDC5 mTORopathy. 27066554 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. 26216793 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. 25366275 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. 25599672 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. 25623524 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Epilepsy with auditory features: A heterogeneous clinico-molecular disease. 27066544 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. 27066565 2015
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR DEPDC5 mutations in genetic focal epilepsies of childhood. 24591017 2014
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 24585383 2014
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. 24283814 2014
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 24814846 2014
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT DEPDC5 mutations in genetic focal epilepsies of childhood. 24591017 2014
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. 24283814 2014
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 CausalMutation disease CLINVAR Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease CLINVAR Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 GeneticVariation disease UNIPROT Mutations in DEPDC5 cause familial focal epilepsy with variable foci. 23542697 2013
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013