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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.080 Biomarker disease BEFREE DLG5 and OCTN do not play a role in the susceptibility to IBD, CD, or ulcerative colitis in the Flemish population but play a role in the phenotypic expression of the disease. 16344053 2005
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: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.020 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 DLG5 R30Q is not associated with IBD in Hungarian IBD patients but predicts clinical response to steroids in Crohn's disease. 16670524 2006
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease
0.020 GeneticVariation disease BEFREE DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease. 17156146 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 DLG5 113A is associated with increased susceptibility to IBD in Scottish children. 17307543 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease BEFREE DLG5 30Q is associated with a small reduction in risk of CD in women. 17693570 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease LHGDN DLG5 30Q is associated with a small reduction in risk of CD in women. 17693570 2008
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 Biomarker group BEFREE Discs large homolog 5 (DLG5), a member of the membrane-associated guanylate kinase (MAGUK) family of scaffolding proteins, has been associated with Crohn's disease (CD), but its role in the pathogenesis of this inflammatory bowel disease is disputed. 18335190 2008
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 GeneticVariation disease BEFREE DLG5 rs1248696" genes_norm="9231">R30Q (rs1248696) and G1066G (rs1248634) were analyzed with PCR-based RFLP methods in a total of 521 subjects, that included 105 individuals with IBD and 139 without IBD from a familial IBD registry, 107 with sporadic IBD, and 170 unrelated healthy controls. 20037206 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 Biomarker phenotype BEFREE Dlg5 has been reported to participate in cancer progression; however, its role in prostate cancer still remains poorly understood. 24662825 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE DLG5 in cell polarity maintenance and cancer development. 24910533 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE DLG5 in cell polarity maintenance and cancer development. 24910533 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 Biomarker phenotype BEFREE Dlg5 (Discs large homolog 5), a member of the membrane-associated guanylate kinase adaptor family of scaffolding proteins, has been shown to participate in cancer progression. 25478998 2015
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group BEFREE A cohort of 2032 individuals was genotyped for disease-associated OCTN and DLG5 variants, including 981 patients with IBD (CD, n = 769; ulcerative colitis, n = 186; indeterminate colitis, n = 26) followed up at a tertiary IBD center. 16344053 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 GeneticVariation disease BEFREE A cohort of 2032 individuals was genotyped for disease-associated OCTN and DLG5 variants, including 981 patients with IBD (CD, n = 769; ulcerative colitis, n = 186; indeterminate colitis, n = 26) followed up at a tertiary IBD center. 16344053 2005
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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.100 GeneticVariation group 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: 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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 GeneticVariation disease BEFREE As the CARD15 risk alleles had previously been assessed in our collection of 496 MS trios, we focused our efforts on the DLG5 risk allele and the IBD5(risk) haplotype (IBD5(risk)) for MS. 16642031 2006
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.010 Biomarker disease BEFREE As the other family members, DLG5 contains the multi-PDZ, SH3 and GUK domains. 24910533 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.100 Biomarker disease BEFREE As there is substantial crosstalk between CARD-mediated pathways, both CD susceptibility genes, NOD2 and DLG5, may interact functionally to contribute to CD risk. 18335190 2008
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.020 Biomarker disease LHGDN Association of DLG5 variants with gluten-sensitive enteropathy. 18559397 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE Both Girdin and Tks5, but not the Tks5 nonphosphorylatable mutant, were responsible for the enhanced invadopodium formation and invasion of Dlg5-silenced HepG2 cells. 28390157 2017