Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
0.700 GermlineCausalMutation disease ORPHANET Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. 24814191 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
0.700 Biomarker disease CTD_human
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
0.700 CausalMutation disease CLINVAR