Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 Biomarker disease GENOMICS_ENGLAND Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014 2016
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 GeneticVariation disease UNIPROT Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014 2016
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 Biomarker disease GENOMICS_ENGLAND Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014 2016
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 GeneticVariation disease UNIPROT Autosomal dominant SCN8A mutation with an unusually mild phenotype. 27210545 2016
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 GeneticVariation disease CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546 2014
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 Biomarker disease CTD_human
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.700 CausalMutation disease CLINVAR