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Genes (12)
Species: human : 12 | |
Human | UQCRQ | 27089 | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa | | Human | CLDN1 | 9076 | claudin 1 | INFERRED, Score=800, UMLKSK CUI: C0008311 | Human | UQCRB | 7381 | ubiquinol-cytochrome c reductase binding protein | | Human | TNF | 7124 | tumor necrosis factor | Title:Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.|Association:Not Found|Conclusion:These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries. Title:Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.|Association:Not Found|Conclusion:In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues. | Human | TLR3 | 7098 | toll-like receptor 3 | Biliary epithelial cell antibodies via induction of TLR2 and TLR3, as well as inflammatory cytokine and chemokine production may induce epithelial cell inflammatory responses to bacterial components and contribute to posttransplantation cholangitis | Human | MMP3 | 4314 | matrix metallopeptidase 3 (stromelysin 1, progelatinase) | Title:A functional polymorphism of the stromelysin gene (MMP-3) influences susceptibility to primary sclerosing cholangitis.|Association:Y|Conclusion:Stromelysin polymorphism may influence susceptibility and disease progression in PSC. | Human | HLA-DRB1 | 3123 | | Title:Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis|Association:Not Found|Conclusion:Further analysis suggested that susceptibility/resistance encoded by the second and third susceptibility haplotypes and by the two resistance haplotypes may be determined by specific amino acids at DQbeta-87 and DQbeta-55, respectively. Title:Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.|Association:Not Found|Conclusion:These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries. Title:The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis.|Association:Y|Conclusion:The DR3,DQ2 heterozygous genotype is associated with a more rapid progression of PSC, whereas HLA-DQ6 is associated with a retarded disease progression. It is possible that the DR4,DQ8 haplotype is related to cholangiocarcinoma development. Title:Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.|Association:Y|Conclusion:In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues. | Human | HLA-DQB1 | 3119 | | Title:Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.|Association:Not Found|Conclusion:These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries. Title:The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis.|Association:Y|Conclusion:The DR3,DQ2 heterozygous genotype is associated with a more rapid progression of PSC, whereas HLA-DQ6 is associated with a retarded disease progression. It is possible that the DR4,DQ8 haplotype is related to cholangiocarcinoma development. Title:Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis|Association:Not Found|Conclusion:Further analysis suggested that susceptibility/resistance encoded by the second and third susceptibility haplotypes and by the two resistance haplotypes may be determined by specific amino acids at DQbeta-87 and DQbeta-55, respectively. Title:Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.|Association:Not Found|Conclusion:In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues. | Human | HLA-DQA1 | 3117 | | Title:Evaluation of the role of MHC class II alleles, haplotypes and selected amino acid sequences in primary sclerosing cholangitis|Association:Not Found|Conclusion:Further analysis suggested that susceptibility/resistance encoded by the second and third susceptibility haplotypes and by the two resistance haplotypes may be determined by specific amino acids at DQbeta-87 and DQbeta-55, respectively. Title:The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis.|Association:Y|Conclusion:The DR3,DQ2 heterozygous genotype is associated with a more rapid progression of PSC, whereas HLA-DQ6 is associated with a retarded disease progression. It is possible that the DR4,DQ8 haplotype is related to cholangiocarcinoma development. | Human | HLA-B | 3106 | | Title:Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.|Association:Not Found|Conclusion:These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries. Title:Susceptibility to primary sclerosing cholangitis in Brazil is associated with HLA-DRB1*13 but not with tumour necrosis factor alpha -308 promoter polymorphism.|Association:Y|Conclusion:In summary, our data indicate that predisposition to PSC in Brazil is primarily linked to HLA-DRB1*13 and suggest that the association with TNFA*2 previously observed in Norwegian and British patients with PSC could be due to linkage with HLA-DRB1*0301. The association of HLA-DRB1*13 with PSC was observed in both children and adults with the disease but was restricted to patients with concurrent IBD, as previously described by Donaldson and colleagues. | Human | CFTR | 1080 | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | Title:Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.|Association:Not Found|Conclusion:These data suggest that the role of genes in the HLA region is relevant, but not necessarily disease-specific and it might be different in populations with divergent ancestries. | Human | BCS1L | 617 | BC1 (ubiquinol-cytochrome c reductase) synthesis-like | |
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