Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
0.010 GeneticVariation disease BEFREE We identified a de novo missense mutation (G375D) in the gephyrin gene (GPHN) in a patient with epileptic encephalopathy resembling Dravet syndrome. 26613940 2015