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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00149 | Neuronal ceroid lipofuscinosis | Neuronal ceroid lipofuscinosis (NCL) is a group of severe neurodegenerative lysosomal storage diseases characterized by intracellular accumulation of ceroid lipofuscin in neurons. NCLs share similar symptoms ... | Inherited metabolic disorder, Lysosomal disease |
(CLN1) PPT1 [HSA:5538] [KO:K01074] (CLN2) TPP1 [HSA:1200] [KO:K01279] (CLN3) CLN3 [HSA:1201] [KO:K12389] (CLN4A/6) CLN6 [HSA:54982] [KO:K12359] (CLN4B) DNAJC5 [HSA:80331] [KO:K09525] (CLN5) CLN5 [HSA:1203] [KO:K12390] (CLN7) MSFD8 [HSA:256471] [KO:K12307] (CLN8) CLN8 [HSA:2055] [KO:K12360] (CLN10) CTSD [HSA:1509] [KO:K01379] (CLN11) GRN [HSA:2896] [KO:K23879] (CLN12) ATP13A2 [HSA:23400] [KO:K13526] (CLN13) CTSF [HSA:8722] [KO:K01373] (CLN14) KCTD7 [HSA:154881] [KO:K21917] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |