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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]
H00534 Cerebral cavernous malformation ... as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent ... Congenital malformation (CCM1) KRIT1 [HSA:889] [KO:K17705]
(CCM2) MGC4607 [HSA:83605] [KO:K26416]
(CCM3) PDCD10 [HSA:11235] [KO:K18269]
(CCM4) PIK3CA [HSA:5290] [KO:K00922]
H01490 Multiple sclerosis Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women ... Immune system disease (MS) PDCD1 [HSA:5133] [KO:K06744]
(MS) HLA-DRB1 [HSA:3123] [KO:K06752]
(MS) HLA-DQB1 [HSA:3119] [KO:K06752]
(MS5) TNFRSF1A [HSA:7132] [KO:K03158]
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]
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