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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00078 | Frontotemporal lobar degeneration | ... tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau pathology. Mutations in progranulin and valosin are associated ... | Neurodegenerative disease |
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
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| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported ... | Nervous system disease |
(FTDALS1) C9orf72 [HSA:203228] [KO:K23609] (FTDALS2) CHCHD10 [HSA:400916] [KO:K22759] (FTDALS3) SQSTM1 [HSA:8878] [KO:K14381] (FTDALS4) TBK1 [HSA:29110] [KO:K05410] (FTDALS5) CCNF [HSA:899] [KO:K10289] (FTDALS6) VCP [HSA:7415] [KO:K13525] (FTDALS7) CHMP2B [HSA:25978] [KO:K12192] (FTDALS8) CYLD [HSA:1540] [KO:K08601] |
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