Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.330 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.330 GeneticVariation group BEFREE SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. 28923014 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.330 GeneticVariation group BEFREE Variants in SCN8A may be responsible for a spectrum of epilepsies as well as other neurodevelopmental disorders without seizures. 27875746 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
0.330 GeneticVariation group BEFREE SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. 25568300 2015