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Entry Name Description Category Pathway Gene
H00285 Blau syndrome ... and lymphaedenopathy are additional features of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation ... Immune system disease NOD2 [HSA:64127] [KO:K10165]
H00286 Crohn disease ... of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine ... Immune system disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD1) IL6 [HSA:3569] [KO:K05405]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
H01227 Inflammatory bowel disease (IBD) Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding ... Immune system disease hsa05321 Inflammatory bowel disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD13) ABCB1 [HSA:5243] [KO:K05658]
(IBD14) IRF5 [HSA:3663] [KO:K09446]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
(IBD29) INAVA [HSA:55765] [KO:K26459]
(IBD30) CARD8 [HSA:22900] [KO:K12801]
(IBD31) IL37 [HSA:27178] [KO:K05485]
IL10 [HSA:3586] [KO:K05443]
MST1 [HSA:4485] [KO:K23441]
H01309 Sarcoidosis, early-onset ... skin, joint, and eye disorders without apparent pulmonary involvement. Mutations in the gene encoding NOD2 in humans have been associated with EOS. NOD2 is an intracellular microbial sensor of the innate ... Immune system disease NOD2 [HSA:64127] [KO:K10165]
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