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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00290 | Aicardi-Goutieres syndrome | Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and ... | Immune system disease |
(AGS1) TREX1 [HSA:11277] [KO:K10790] (AGS2) RNASEH2B [HSA:79621] [KO:K10744] (AGS3) RNASEH2C [HSA:84153] [KO:K10745] (AGS4) RNASEH2A [HSA:10535] [KO:K10743] (AGS5) SAMHD1 [HSA:25939] [KO:K22544] (AGS6) ADAR [HSA:103] [KO:K12968] (AGS7) IFIH1 [HSA:64135] [KO:K12647] (AGS8) LSM11 [HSA:134353] [KO:K25592] (AGS9) RNU7-1 [HSA:100147744] |
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| H00408 | Type 1 diabetes mellitus | The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated ... | Metabolic disease; Immune system disease; Endocrine disease | hsa04940 Type I diabetes mellitus |
(T1D2) INS [HSA:3630] [KO:K04526] (T1D5) SUMO4 [HSA:387082] [KO:K12160] (T1D10) IL2RA [HSA:3559] [KO:K05068] (T1D12) CTLA4 [HSA:1493] [KO:K06538] (T1D20) HNF1A [HSA:6927] [KO:K08036] (T1D22) CCR5 [HSA:1234] [KO:K04180] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] PTPN2 [HSA:5771] [KO:K18026] ERBB3 [HSA:2065] [KO:K05084] IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434] IFIH1 [HSA:64135] [KO:K12647] CLEC16A [HSA:23274] [KO:K19513] BACH2 [HSA:60468] [KO:K09042] CTSH [HSA:1512] [KO:K01366] SH2B3 [HSA:10019] [KO:K12459] C12orf30 [HSA:80018] [KO:K17973] CD226 [HSA:10666] [KO:K06567] ITPR3 [HSA:3710] [KO:K04960] CYP27B1 [HSA:1594] [KO:K07438] |
| H01571 | Singleton-Merten syndrome | ... osteopenia, and acro-osteolysis. A gain-of-function mutation in interferon induced with helicase C domain 1 (IFIH1), encoding melanoma differentiation-associated protein 5 (MDA5), causes SMS through dysregulation ... | Congenital malformation |
(SGMRT1) IFIH1 [HSA:64135] [KO:K12647] (SGMRT2) RIGI [HSA:23586] [KO:K12646] |
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| H02525 | Disorders of innate immunity | Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune ... | Immune system disease |
(IMD44) STAT2 [HSA:6773] [KO:K11221] (IMD45) IFNAR2 [HSA:3455] [KO:K05131] (IMD57) RIPK1 [HSA:8737] [KO:K02861] (IMD63) IL2RB [HSA:3560] [KO:K05069] (IMD65) IRF9 [HSA:10379] [KO:K04693] (IMD77) MPEG1 [HSA:219972] [KO:K26547] (IMD80) MCM10 [HSA:55388] [KO:K10736] (IMD90) FADD [HSA:8772] [KO:K02373] (IMD91) ZNFX1 [HSA:57169] [KO:K27391] (IMD95) IFIH1 [HSA:64135] [KO:K12647] (IMD106) IFNAR1 [HSA:3454] [KO:K05130] (IMD115) RNF31 [HSA:55072] [KO:K11974] (IMD117) IRF1 [HSA:3659] [KO:K09444] |
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