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 Biomarker disease GENOMICS_ENGLAND
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.130 Biomarker disease HPO
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		0.600 Biomarker disease GENOMICS_ENGLAND Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. 10577924 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.500 GeneticVariation disease BEFREE Our findings suggest that common variants within the DEPDC5 locus affect susceptibility to HCC in Japanese individuals with chronic HCV infection. 21725309 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.500 Biomarker disease CTD_human Our findings suggest that common variants within the DEPDC5 locus affect susceptibility to HCC in Japanese individuals with chronic HCV infection. 21725309 2011
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.120 GeneticVariation disease GWASCAT Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. 21725309 2011
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		0.120 GeneticVariation disease GWASDB Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. 21725309 2011
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.050 GeneticVariation disease BEFREE Our findings suggest that common variants within the DEPDC5 locus affect susceptibility to HCC in Japanese individuals with chronic HCV infection. 21725309 2011
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of intelligence: additive effects of novel brain expressed genes. 22449649 2012
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intelligence: additive effects of novel brain expressed genes. 22449649 2012
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
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		0.770 GeneticVariation 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 CTD_human 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 GeneticVariation disease CLINVAR 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 GeneticVariation disease BEFREE 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 Biomarker disease CTD_human 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 CausalMutation disease CLINVAR 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: 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