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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]
H00088 Common variable immunodeficiency There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... Immune system disease (CVID1) ICOS [HSA:29851] [KO:K06713]
(CVID2) TNFRSF13B [HSA:23495] [KO:K05150]
(CVID3) CD19 [HSA:930] [KO:K06465]
(CVID4) TNFRSF13C [HSA:115650] [KO:K05151]
(CVID5) MS4A1 [HSA:931] [KO:K06466]
(CVID6) CD81 [HSA:975] [KO:K06508]
(CVID7) CR2 [HSA:1380] [KO:K04012]
(CVID8) LRBA [HSA:987] [KO:K24181]
(CVID10) NFKB2 [HSA:4791] [KO:K04469]
(CVID11) IL21 [HSA:59067] [KO:K05434]
(CVID12) NFKB1 [HSA:4790] [KO:K02580]
(CVID13) IKZF1 [HSA:10320] [KO:K09220]
(CVID14) IRF2BP2 [HSA:359948] [KO:K27448]
(CVID15) SEC61A1 [HSA:29927] [KO:K10956]
H00091 T-B+Severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi) ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00093 Combined immunodeficiency The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell ... Primary immunodeficiency CD40LG (TNFSF5) [HSA:959] [KO:K03161]
CD40 [HSA:958] [KO:K03160]
PNP [HSA:4860] [KO:K03783]
CD8A [HSA:925] [KO:K06458]
(IMD6) IL2RG [HSA:3561] [KO:K05070]
(IMD9) ORAI1 [HSA:84876] [KO:K16056]
(IMD10) STIM1 [HSA:6786] [KO:K16059]
(IMD11) CARD11 [HSA:84433] [KO:K07367]
(IMD12) MALT1 [HSA:10892] [KO:K07369]
(IMD15) IKBKB [HSA:3551] [KO:K07209]
(IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
(IMD17) CD3G [HSA:917] [KO:K06452]
(IMD22) LCK [HSA:3932] [KO:K05856]
(IMD24) CTPS1 [HSA:1503] [KO:K01937]
(IMD37) BCL10 [HSA:8915] [KO:K07368]
(IMD40) DOCK2 [HSA:1794] [KO:K12367]
(IMD48) ZAP70 [HSA:7535] [KO:K07360]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD55) GINS1 [HSA:9837] [KO:K10732]
(IMD59) HYOU1 [HSA:10525] [KO:K09486]
(IMD85) TOM1 [HSA:10043] [KO:K26401]
(IMD97) PIK3CG [HSA:5294] [KO:K21289]
(IMD110) STK4 [HSA:6789] [KO:K04411]
(IMD112) MAP3K14 [HSA:9020] [KO:K04466]
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]
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]
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]
H01466 Ulcerative colitis Ulcerative colitis (UC) is one subtype of inflammatory bowel disease (IBD) whose pathogenesis is multifactorial and includes influences from genes, the environment, and the gut microbiome. In UC the inflammatory ... Immune system disease IL23R [HSA:149233] [KO:K05065]
IL10 [HSA:3586] [KO:K05443]
IL37 [HSA:27178] [KO:K05485]
MST1 [HSA:4485] [KO:K23441]
H01476 Behcet disease
Behcet syndrome 		... decades ago, and has been confirmed in multiple populations. Recent genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behcet disease. Immune system disease; Skin disease
H01985 Desmoplastic small round cell tumor ... targets of the EWSR1-WT1 chimera have been identified such as Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like Growth Factor 1 receptor (IGF1-R) ... Cancer EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234]
MET (mutation) [HSA:4233] [KO:K05099]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
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]
H02526 Disorders of adaptive immunity T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses ... Immune system disease (IMD13) UNC119 [HSA:9094] [KO:K23539]
(IMD41) IL2RA [HSA:3559] [KO:K05068]
(IMD46) TFRC [HSA:7037] [KO:K06503]
(IMD52) LAT [HSA:27040] [KO:K07362]
(IMD53) RELB [HSA:5971] [KO:K09253]
(IMD56) IL21R [HSA:50615] [KO:K05075]
(IMD60) BACH2 [HSA:60468] [KO:K09042]
(IMD62) ARHGEF1 [HSA:9138] [KO:K12330]
(IMD64) RASGRP1 [HSA:10125] [KO:K04350]
(IMD66) MRTFA [HSA:57591] [KO:K22525]
(IMD70) IVNS1ABP [HSA:10625] [KO:K15046]
(IMD72) NCKAP1L [HSA:3071] [KO:K05750]
(IMD76) FCHO1 [HSA:23149] [KO:K20042]
(IMD78) TPP2 [HSA:7174] [KO:K01280]
(IMD79) CD4 [HSA:920] [KO:K06454]
(IMD81) LCP2 [HSA:3937] [KO:K07361]
(IMD82) SYK [HSA:6850] [KO:K05855]
(IMD84) IKZF3 [HSA:22806] [KO:K09220]
(IMD86) SPPL2A [HSA:84888] [KO:K09596]
(IMD87) DEF6 [HSA:50619] [KO:K20072]
(IMD88) TBX21 [HSA:30009] [KO:K10166]
(IMD89) CARD10 [HSA:29775] [KO:K20912]
(IMD92) REL [HSA:5966] [KO:K09254]
(IMD93) FNIP1 [HSA:96459] [KO:K20400]
(IMD99) CTNNBL1 [HSA:56259] [KO:K12864]
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