Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.380 Biomarker CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082

2018
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.380 Biomarker CTD_human We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. 23708187

2013