DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.800 Biomarker disease MGD Altered thalamocortical development in the SAP102 knockout model of intellectual disability. 27466188 2016
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.800 CausalMutation disease CLINVAR
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.800 Biomarker disease CTD_human
CUI: C3275443
Disease: MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 90 (disorder) 		0.800 GeneticVariation disease CLINVAR
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 Biomarker disease MGD Altered thalamocortical development in the SAP102 knockout model of intellectual disability. 27466188 2016
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 GeneticVariation disease BEFREE Mutations in most of more than 20 known genes causing nonspecific form of X-linked MR (MRX) are very rare and may account for less than 0.5-1% of MR. Linkage studies in extended pedigrees followed by mutational analysis of known MRX genes in the linked interval are often the only way to identify a genetic cause of the disorder. 19012350 2008
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 GermlineCausalMutation disease ORPHANET Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 GeneticVariation disease BEFREE The 13 MRX genes identified to date account for less than one-fifth of all MRX, suggesting that numerous gene defects cause the disorder in other families. 14628291 2003
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 GeneticVariation disease BEFREE This MRX localization overlaps with 7 XLMR loci (MRX23, MRX27, MRX30, MRX35, MRX47, MRX53, and MRX63). 12949969 2003
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 GeneticVariation disease BEFREE This pericentromeric clustering of MRX families suggests allelism, with a minimum of 2 X-linked mental retardation (XLMR) genes in this region. 10449641 1999
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.550 GeneticVariation disease BEFREE On the other hand, given the considerable genetic heterogeneity in MRX, one should be extremely cautious in using interfamilial linkage data to narrow down the localisation of MRX genes. 9783701 1998
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 Biomarker disease BEFREE We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. 21384559 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE This study should help to identify the novel XLMR genes and mechanisms leading to MR and reveal the clinical conditions and genomic background of XLMR. 20613765 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 Biomarker disease CTD_human Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. 12428212 2002
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE Most considerably, genotype-phenotype correlation studies of affected individuals in XLMR families with MRX gene mutations are necessary to define the criteria of MRX vs MRXS subclassification. 12485186 2002
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE Here we report on the localization of a presumptive MRX gene to chromosomal region Xq24-q26 in a German family with nonspecific X-linked mental retardation (MRX 75, HUGO Human Gene Nomenclature Committee). 10946355 2000
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE Thorough investigation of an MRX critical region in Xp22.1-21.3 enabled us to identify a new gene expressed in brain that is responsible for a non-specific form of X-linked mental retardation. 10471494 1999
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE Further mutation analyses in males with X-linked mental retardation must prove that RSK4 is indeed a novel MRX gene. 10644430 1999
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 GeneticVariation disease BEFREE MRX genes of 2 families with X-linked mental retardation (XLMR) were localized by linkage analysis. 8826456 1996
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 Biomarker disease BEFREE We report on a family with 4 affected males in 3 generations with a previously unreported X-linked mental retardation/multiple congenital anomaly (XLMR/MCA) syndrome. 6538755 1984
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.400 Biomarker disease BEFREE Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic "coarse" facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. 6538756 1984
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.360 GeneticVariation disease BEFREE As impaired NMDA receptor activity may be the result of a primary defect in the NMDA receptors themselves, or secondary to dysfunction in the protein complexes that mediate their signaling, we measured expression of both NMDA subunits and associated postsynaptic density (PSD) proteins (PSD95, neurofilament-light (NF-L), and SAP102) transcripts in the dorsolateral prefrontal cortex in subjects with schizophrenia, bipolar disorder, major depression, and a comparison group using tissue from the Stanley Foundation Neuropathology Consortium. 18033238 2008