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Entry Name Description Category Pathway Gene
H00538 Senior-Loken syndrome Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa. Congenital malformation (SLSN1) NPHP1 [HSA:4867] [KO:K19657]
(SLSN4) NPHP4 [HSA:261734] [KO:K16478]
(SLSN5) IQCB1 [HSA:9657] [KO:K16774]
(SLSN6) CEP290 [HSA:80184] [KO:K16533]
(SLSN7) SDCCAG8 [HSA:10806] [KO:K16488]
(SLSN8) WDR19 [HSA:57728] [KO:K19671]
(SLSN9) TRAF3IP1 [HSA:26146] [KO:K19680]
H01109 Chronic mucocutaneous candidiasis
Familial candidiasis (CANDF) 		Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic ... Immune system disease (CANDF2) CARD9 [HSA:64170] [KO:K12794]
(CANDF4) CLEC7A [HSA:64581] [KO:K10074]
(CANDF5) IL17RA [HSA:23765] [KO:K05164]
(CANDF6) IL17F [HSA:112744] [KO:K05494]
(CANDF7) STAT1 [HSA:6772] [KO:K11220]
(CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124]
(CANDF9) IL17RC [HSA:84818] [KO:K05166]
H01656 Psoriasis Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are ... Immune system disease; Skin disease (PSORS1) HLA-C [HSA:3107] [KO:K06751]
(PSORS2) CARD14 [HSA:79092] [KO:K20913]
(PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124]
(PSORS14) IL36RN [HSA:26525] [KO:K05483]
(PSORS15) AP1S3 [HSA:130340] [KO:K12395]
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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