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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00084 | Graft-versus-host disease | Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD ... | Immune system disease | hsa05332 Graft-versus-host disease |
IL10 [HSA:3586] [KO:K05443] TNF [HSA:7124] [KO:K03156] IL1A [HSA:3552] [KO:K04383] IL1RN [HSA:3557] [KO:K05481] IFNG [HSA:3458] [KO:K04687] IL6 [HSA:3569] [KO:K05405] TGFB1 [HSA:7040] [KO:K13375] TGFB2 [HSA:7042] [KO:K13376] TGFB3 [HSA:7043] [KO:K13377] IL13 [HSA:3596] [KO:K05435] TNFRSF1B [HSA:7133] [KO:K05141] IL2 [HSA:3558] [KO:K05429] |
| H00286 | Crohn disease | Crohn disease is a chronic, relapsing inflammatory bowel disease (IBD) characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small ... | 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] |
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| H00462 | Stuve-Wiedemann syndrome | Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease. | Congenital malformation |
(STWS1) LIFR [HSA:3977] [KO:K05058] (STWS2) IL6ST [HSA:3572] [KO:K05060] |
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| H00630 | Rheumatoid arthritis | Rheumatoid arthritis (RA) is a common autoimmune disease that primarily manifests as chronic inflammatory arthropathy. Persistent synovitis leads to cartilage destruction, bone erosions and periarticular ... | Immune system disease | hsa05323 Rheumatoid arthritis |
HLA-DRB1 [HSA:3123] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] CIITA [HSA:4261] [KO:K08060] CD244 [HSA:51744] [KO:K06582] SLC22A4 [HSA:6583] [KO:K08202] IRF5 [HSA:3663] [KO:K09446] NFKBIL1 [HSA:4795] [KO:K09256] IL10 [HSA:3586] [KO:K05443] (JIA) IL6 [HSA:3569] [KO:K05405] (JIA) MIF [HSA:4282] [KO:K07253] |
| H01479 | Castleman disease | Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric ... | Immune system disease | IL6 [HSA:3569] [KO:K05405] | |
| H01672 | Juvenile idiopathic arthritis | ... occurring in 10-30% of patients with systemic JIA is macrophage activation syndrome. Polymorphisms in the IL6 and in the MIF gene have been found to be associated with susceptibility to the disorder. Based on ... | Immune system disease |
IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810] |
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| H01968 |
Hyper-IgE syndrome Job syndrome Buckley syndrome |
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria ... | Immune system disease |
(HIES1) STAT3 [HSA:6774] [KO:K04692] (HIES2) DOCK8 [HSA:81704] [KO:K21852] (HIES3) ZNF341 [HSA:84905] [KO:K24852] (HIES4A/4B) IL6ST [HSA:3572] [KO:K05060] (HIES5) IL6R [HSA:3570] [KO:K05055] (HIES6) STAT6 [HSA:6778] [KO:K11225] (HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219] (HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836] |
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