NLGN3, neuroligin 3, 54413

N. diseases: 63; N. variants: 7
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group BEFREE Our report of two missense variants affecting the normal localization of NLGN3 in a total of five affected individuals reinforces the involvement of the NLGN3 gene in a neurodevelopmental disorder characterized by ID and ASD. 31184401 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group BEFREE Frameshift and missense mutations in the X-linked neuroligin 4 (NLGN4, MIM# 300427) and neuroligin 3 (NLGN3, MIM# 300336) genes have been identified in patients with autism, Asperger syndrome and mental retardation. 18628683 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE The phenotypes of genes causing syndromic and non-syndromic mental retardation (NLGN3, NLGN4, RPS6KA3(RSK2), OPHN1, ATRX, SLC6A8, ARX, SYN1, AGTR2, MECP2, PQBP1, SMCX, and SLC16A2) are first discussed, as these may be the focus of more targeted mutation analysis. 16118346 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO