Gene: SYNGAP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 Biomarker group BEFREE Mutations in SYNGAP1 result in a neurodevelopmental disorder termed Mental retardation-type 5 (MRD5, OMIM #612621) with a phenotype consisting of intellectual disability, motor impairments, and epilepsy, attesting to the importance of this protein for normal brain development. 31454529 2019
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE Our data strongly suggest that the SYNGAP1 variant is causative of intellectual disability in this patient. 29381230 2018
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. 29402231 2018
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE The main clinical features of our patient (i.e., intellectual disability and idiopathic epilepsy) are compatible with previous reports on patients with SYNGAP1 mutations. 26110312 2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE Each individual carrying a DNM in SYNGAP1 had moderate-to-severe ID and 7/10 had epilepsy; typically myoclonic seizures, absences or drop attacks. 26079862 2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. 23161826 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment. 23687080 2013
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 Biomarker group BEFREE In the SYNGAP1 mouse model of ID/ASD, we found that dendritic spine synapses develop prematurely during the early postnatal period. 23141534 2012
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). 22050443 2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447 2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 Biomarker group CTD_human A de novo paradigm for mental retardation. 21076407 2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group LHGDN These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. 19196676 2009
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 GeneticVariation group BEFREE These results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. 19196676 2009
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.500 Biomarker group HPO