NLGN4X, neuroligin 4 X-linked, 57502

N. diseases: 45; N. variants: 18
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 		0.200 GeneticVariation group BEFREE We performed a clinical, neurophysiological (in vivo electroencephalography-auditory-evoked related potentials) and genetic (whole-exome sequencing) follow-up analysis of two families with known deleterious NLGN4X gene mutations (either truncating or overexpressing) present in individuals with ASD and/or with intellectual disability (ID). 26055424 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Mutations in neurexin 1 (NRXN1) as well as two other members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and mutations in NLGN4 have also been associated with intellectual disability, seizures, and EEG abnormalities. 22106001 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE The results suggest a positive association between the genetic variants of the NLGN4 and NSMR in the Chinese children from Qinba Mountains Region. 19125102 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes". 19160128 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE We identified a de novo 1 base pair (-335G>A) substitution located in the promoter region in a patient with autism and nonsyndromic profound MR. Interestingly, this variation is associated with an increased level of the NLGN4X transcript in the patient compared with male control subjects as well as his father. 19545860 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. 18231125 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 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 		0.200 GeneticVariation group BEFREE Recent reports suggest that mutations in NLGN4 (neuroligin 4), located at that same region, are involved in autistic disorders and ID. 17391250 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE VCX-A deficiency has been shown previously to be associated with mental retardation and NLGN4 mutations lead to mental retardation in conjunction with autism. 16470742 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group BEFREE The fact that the deletion was present in both autistic and nonautistic mentally retarded males suggests that the NLGN4 gene is not only involved in autism, as previously described, but also in mental retardation, indicating that some types of autistic disorder and mental retardation may have common genetic origins. 14963808 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group HPO