DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
Disease: Fragile X Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.020 GeneticVariation disease BEFREE Central nervous system neoplasm in a young man with Martin-Bell syndrome--fra(X)-XLMR. 3812581 1987
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.020 Biomarker disease BEFREE At the 1983 NIH workshop on XLMR there was a general consensus that a connective tissue dysplasia is a component of the Martin-Bell syndrome, a fact since confirmed by others on the basis of objective measurements of finger joint hypermobility and frequent presence of mitral valve prolapse. 6711589 1984