DLG4, discs large MAGUK scaffold protein 4, 1742

N. diseases: 91; N. variants: 54
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 		0.320 Biomarker group BEFREE Our study emphasizes the role of DLG4 as a novel post-synaptic-associated gene involved in syndromic ID associated with MH. 29460436 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE The atomic structure of the PSD-95 guanylate kinase (GK) in complex with a phosphor-SAPAP repeat peptide, together with biochemical studies, reveals the molecular mechanism underlying the phosphorylation-dependent PSD-95/SAPAP interaction, and it also provides an explanation of a PSD-95 mutation found in patients with intellectual disabilities. 29281827 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017