DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
Disease: Mental Retardation, X-Linked ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs866776696
rs866776696
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C1136249
Disease:
Mental Retardation, X-Linked 		0.010 GeneticVariation BEFREE These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. 16385466 2006