Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25930
Gene Symbol: PTPN23
PTPN23
0.010 GeneticVariation disease BEFREE Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. 29899372 2018