Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. 28893434

2018

Entrez Id: 23334
Gene Symbol: SZT2
SZT2
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.420 Biomarker GENOMICS_ENGLAND Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. 23932106

2013