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Entry Name Description Category Pathway Gene
H00080 Systemic lupus erythematosus Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain ... Immune system disease hsa05322 Systemic lupus erythematosus (SLE) PTPN22 [HSA:26191] [KO:K18024]
(SLE) FCGR2A [HSA:2212] [KO:K06472]
(SLE) FCGR2B [HSA:2213] [KO:K12560]
(SLE) CTLA4 [HSA:1493] [KO:K06538]
(SLE) TREX1 [HSA:11277] [KO:K10790]
(SLE) DNASE1 [HSA:1773] [KO:K11994]
(SLEB1) TLR5 [HSA:7100] [KO:K10168]
(SLEB2) PDCD1 [HSA:5133] [KO:K06744]
(SLEB9) CR2 [HSA:1380] [KO:K04012]
(SLEB10) IRF5 [HSA:3663] [KO:K09446]
(SLEB11) STAT4 [HSA:6775] [KO:K11222]
(SLEB16) DNASE1L3 [HSA:1776] [KO:K11995]
(SLEB17) TLR7 [HSA:51284] [KO:K05404]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
C2 [HSA:717] [KO:K01332]
C4A [HSA:720] [KO:K03989]
TNF [HSA:7124] [KO:K03156]
FCGR3A [HSA:2214] [KO:K06463]
FCGR3B [HSA:2215] [KO:K06463]
CRP [HSA:1401] [KO:K16143]
ZNF423 [HSA:23090] [KO:K22870]
H00081 Hashimoto thyroiditis Hashimoto thyroiditis (HT) is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid ... Immune system disease CTLA4 [HSA:1493] [KO:K06538]
H00083 Allograft rejection Allograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen ... Immune system disease hsa05330 Allograft rejection TNF [HSA:7124] [KO:K03156]
IL10 [HSA:3586] [KO:K05443]
TGFB1 [HSA:7040] [KO:K13375]
TGFB2 [HSA:7042] [KO:K13376]
TGFB3 [HSA:7043] [KO:K13377]
IFNG [HSA:3458] [KO:K04687]
HLA-DMA [HSA:3108] [KO:K06752]
ICAM1 [HSA:3383] [KO:K06490]
CTLA4 [HSA:1493] [KO:K06538]
ACE [HSA:1636] [KO:K01283]
ITGB3 [HSA:3690] [KO:K06493]
H00108 Autoimmune lymphoproliferative syndromes Autoimmune lymphoproliferative syndromes (ALPS) are autosomal dominant disorders with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes ... Primary immunodeficiency (ALPS1A) FAS [HSA:355] [KO:K04390]
(ALPS1B) FASLG [HSA:356] [KO:K04389]
(ALPS2A) CASP10 [HSA:843] [KO:K04400]
(ALPS2B) CASP8 [HSA:841] [KO:K04398]
(ALPS3) PRKCD [HSA:5580] [KO:K06068]
(ALPS4) NRAS [HSA:4893] [KO:K07828]
(ALPS5) CTLA4 [HSA:1493] [KO:K06538]
H00408 Type 1 diabetes mellitus ... HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the ... 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]
H01812 Rasmussen encephalitis
Rasmussen syndrome 		Rasmussen encephalitis is a rare chronic neurological disorder, characterised by unilateral inflammation of the cerebral cortex, drug-resistant epilepsy, and progressive neurological and cognitive deterioration ... Immune system disease; Nervous system disease CTLA4 (polymorphism) [HSA:1493] [KO:K06538]
PDCD1 (polymorphism) [HSA:5133] [KO:K06744]
H02123 Celiac disease ... non-HLA genetic factors are likely to be required for the development of the disease. It has been reported that CTLA4 and MYO9B gene polymorphisms are associated with predisposition to celiac disease. Digestive system disease (CELIAC1) HLA-DQA1 [HSA:3117] [KO:K06752]
(CELIAC1) HLA-DQB1 [HSA:3119] [KO:K06752]
(CELIAC3) CTLA4 [HSA:1493] [KO:K06538]
(CELIAC4) MYO9B [HSA:4650] [KO:K10360]
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