DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
Disease: Renpenning syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796135
Disease: Renpenning syndrome 1
Renpenning syndrome 1 		0.010 GeneticVariation disease BEFREE Subsequent to the description of mutations in the polyglutamine tract binding protein 1 (PQBP1) in Sutherland-Haan syndrome, Hamel cerebropalatocardiac syndrome, MRX55, and two small XLMR families, a single nucleotide insertion has been found in the original family with Renpenning syndrome and an AGAG deletion in a second family with the Renpenning syndrome. 15782410 2005