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Entry | Name | Description | Category | Pathway | Gene |
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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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H02536 | Infection-induced acute encephalopathy | Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ ... | Nervous system disease; Infectious disease |
(IIAE1) UNC93B1 [HSA:81622] [KO:K26150] (IIAE2) TLR3 [HSA:7098] [KO:K05401] (IIAE3) RANBP2 [HSA:5903] [KO:K12172] (IIAE4) CPT2 [HSA:1376] [KO:K08766] (IIAE5) TRAF3 [HSA:7187] [KO:K03174] (IIAE6) TICAM1 [HSA:148022] [KO:K05842] (IIAE7) IRF3 [HSA:3661] [KO:K05411] (IIAE8) TBK1 [HSA:29110] [KO:K05410] (IIAE9) NUP214 [HSA:8021] [KO:K14317] (IIAE10) SNORA31 [HSA:677814] [KO:K26336] (IIAE11) DBR1 [HSA:51163] [KO:K18328] (IIAE12) RNH1 [HSA:6050] [KO:K16634] |
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H02673 | Craniofacial microsomia | ... microtia, and preauricular tags, and originate from the first and second pharyngeal arch-derived tissues. SF3B2 is the most common causative gene to date, however, the molecular basis for the majority of CFM ... | Congenital malformation |
(CFM1) SF3B2 [HSA:10992] [KO:K12829] (CFM2) FOXI3 [HSA:344167] [KO:K09401] |
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H02743 | KINSSHIP syndrome | ... intellectual disability, and pulmonary involvement. It has been reported that variants in the degron of AFF3 cause this disease. AFF3 encodes a component of the transcriptional super elongation complex that ... | Congenital malformation | AFF3 [HSA:3899] [KO:K15195] |
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