Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.400 Biomarker GENOMICS_ENGLAND Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses. 23141534

2012

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.400 Biomarker GENOMICS_ENGLAND