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Entry Name Description Category Pathway Gene
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]
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]
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]
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]
41 to 44 of 44 Prev 1 2

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