Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation BEFREE De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. 21237447

2011
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker CTD_human A de novo paradigm for mental retardation. 21076407

2010
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 GeneticVariation 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker HPO