Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation disease BEFREE Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation. 31225799 2019
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Delving Deeper into DEPDC5. 29950950 2019
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation disease BEFREE We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation.The mean onset age was nine years old. 30767899 2019
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons. 29481864 2018
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Loss-of-function mutations in a single allele of the gene encoding DEP domain-containing 5 protein (DEPDC5) are commonly linked to familial focal epilepsy with variable foci; however, a subset of patients presents with focal cortical dysplasia that is proposed to result from a second-hit somatic mutation. 29708509 2018
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish. 29761115 2018
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development. 29861134 2018
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 28102150 2017
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy. 28199897 2017
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 26704558 2016
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. 26000329 2015
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Epileptic spasms are a feature of DEPDC5 mTORopathy. 27066554 2015
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation disease BEFREE Mutations in the DEPDC5 (DEP domain-containing protein 5) gene are a major cause of familial focal epilepsy with variable foci (FFEVF) and are predicted to account for 12-37% of families with inherited focal epilepsies. 26216793 2015
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Mutations in DEPDC5 have recently been identified in multiple cases of FFEVF as well as in a wide spectrum of other familial focal epilepsies. 24283814 2014
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. 24814846 2014
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation disease BEFREE We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small families with nonlesional focal epilepsy. 24585383 2014
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation disease BEFREE Small ADNFLE pedigrees with DEPDC5 mutations might actually represent a part of the broader familial focal epilepsy with variable foci phenotype. 24814846 2014
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation disease BEFREE Mutations in DEPDC5 have recently been identified in multiple cases of FFEVF as well as in a wide spectrum of other familial focal epilepsies. 24283814 2014
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 24585383 2014
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GermlineCausalMutation disease ORPHANET Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82). 23542697 2013
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GermlineCausalMutation disease ORPHANET Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 CausalMutation disease CLINVAR Mutations of DEPDC5 cause autosomal dominant focal epilepsies. 23542701 2013
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 Biomarker disease CLINGEN Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82). 23542697 2013