Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
0.430 Biomarker disease BEFREE The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. 30908877 2019
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
0.430 Biomarker disease BEFREE Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption. 23161826 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
0.430 GeneticVariation disease BEFREE We provide evidence that truncating mutations in SYNGAP1 are common in NSID and can be also associated with autism. 21237447 2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
0.430 Biomarker disease CTD_human Functional impact of global rare copy number variation in autism spectrum disorders. 20531469 2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
0.430 Biomarker disease HPO