DLG5, discs large MAGUK scaffold protein 5, 9231

N. diseases: 36; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease BEFREE Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD. 17451203 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease LHGDN Polymorphisms 3020insC in CARD15 and SNP rs2165047 in DLG5 were associated with specific phenotypes in this pediatric-onset CD cohort. 17476680 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease LHGDN Polymorphisms of CARD15 and OCTN genes, but not DLG5 are associated with pediatric onset of CD. 17451203 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases. 17451203 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group LHGDN DLG5 113A is associated with increased susceptibility to IBD in Scottish children. 17307543 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE Polymorphisms R702W, G908R, and 3020insC of CARD15 (caspase activating recruitment domain 15); Asp299Gly and Thr399Ile of TLR4; -207G-->C, 1672C-->T (L503F), rs3792876, rs274551, rs272893, and rs273900 of SLC22A4/5; and 113G-->A as well as rs2289311, rs1270912, and rs2165047 of DLG5 (Drosophila discs large homologue 5) were assessed in 103 pediatric-onset and 696 adult-onset IBD patients. 17476680 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE This study provides some evidence that DLG5 haplotype A is associated with reduced risk of IBD in the New Zealand Caucasian population, but this association will need to be replicated in an independent sample. 17455201 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE A significant association between the DLG5 variant (R30Q) and inflammatory bowel disease (IBD) has been confirmed in several independent adult IBD cohorts. 17156146 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE DLG5 113A is associated with increased susceptibility to IBD in Scottish children. 17307543 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group LHGDN This study provides some evidence that DLG5 haplotype A is associated with reduced risk of IBD in the New Zealand Caucasian population, but this association will need to be replicated in an independent sample. 17455201 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 Biomarker group BEFREE These genes join the already confirmed IBD susceptibility genes such as NOD2/CARD15, IBD5, and DLG5. 17600381 2007
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE The R30Q variant in the DLG5 gene does not appear to be associated with an overall increase in the risk of disease in a British IBD cohort, but differences in its frequency in subgroups of CD patients warrant further investigation. 16944184 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE DLG5 R30Q is not associated with IBD in Hungarian IBD patients but predicts clinical response to steroids in Crohn's disease. 16670524 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE A major role in adult Crohn's disease (CD) has been defined for 3 polymorphisms in the CARD15 gene, whereas variants in the SLC22A4, SLC22A5, and DLG5 genes could have a minor contribution to IBD susceptibility. 16670523 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease BEFREE The initial report of DLG5 as a novel IBD susceptibility gene sparked a multitude of studies investigating its effect on CD and IBD, respectively, leading to controversial findings and ongoing discussions concerning the validity of the initial association finding and its role in the aetiology of Crohn disease. 16773680 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease BEFREE Further investigation of the observed TRD may contribute towards enlightening the role of DLG5 in physiological processes influencing transmission of chromosomes to the surviving offspring, which, in turn, may help in understanding its implication in the development of CD among men. 16446977 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease LHGDN The initial report of DLG5 as a novel IBD susceptibility gene sparked a multitude of studies investigating its effect on CD and IBD, respectively, leading to controversial findings and ongoing discussions concerning the validity of the initial association finding and its role in the aetiology of Crohn disease. 16773680 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE Subgroup analysis also failed to show evidence of association between either DLG5 allele or genotype frequencies and ulcerative colitis or Crohn's disease. 16534418 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE We assess the frequency of the CARD15 SNPs and of the R30Q mutation in DLG5 and their contribution to the development of CD in a cohort of unrelated IBD patients (151 CD, 325 ulcerative colitis (UC)) and healthy controls (236) from South-east Norway (IBSEN cohort). 16493449 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE DLG5 variants contribute to Crohn disease risk in a Canadian population. 16450402 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease LHGDN Further investigation of the observed TRD may contribute towards enlightening the role of DLG5 in physiological processes influencing transmission of chromosomes to the surviving offspring, which, in turn, may help in understanding its implication in the development of CD among men. 16446977 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE Furthermore, we evaluated whether DLG5 variants alter gastrointestinal permeability in Crohn's disease (CD). 16494592 2006
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 Biomarker group BEFREE To date, three loci have been validated to confer susceptibility to inflammatory bowel disease (IBD): the CARD15/NOD2 gene, the discs large homolog 5 gene (DLG5), and the IBD5 locus on 5q31 (IBD5). 16642031 2006
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE We assess the frequency of the CARD15 SNPs and of the R30Q mutation in DLG5 and their contribution to the development of CD in a cohort of unrelated IBD patients (151 CD, 325 ulcerative colitis (UC)) and healthy controls (236) from South-east Norway (IBSEN cohort). 16493449 2006
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE Together, the results indicate a role for DLG5 variants in IBD susceptibility and suggest that further studies are warranted to evaluate this role in different IBD populations and to determine the functional pathways that couple DLG5 variants to IBD. 16450402 2006