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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00057 | Parkinson disease | Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental ... | Neurodegenerative disease | hsa05012 Parkinson disease |
(PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528] (PARK2) PRKN [HSA:5071] [KO:K04556] (PARK5) UCHL1 [HSA:7345] [KO:K05611] (PARK6) PINK1 [HSA:65018] [KO:K05688] (PARK7) PARK7 [HSA:11315] [KO:K05687] (PARK8) LRRK2 [HSA:120892] [KO:K08844] (PARK9) ATP13A2 [HSA:23400] [KO:K13526] (PARK11) GIGYF2 [HSA:26058] [KO:K18730] (PARK13) HTRA2 [HSA:27429] [KO:K08669] (PARK14) PLA2G6 [HSA:8398] [KO:K16343] (PARK15) FBXO7 [HSA:25793] [KO:K10293] (PARK17) VPS35 [HSA:55737] [KO:K18468] (PARK18) EIF4G1 [HSA:1981] [KO:K03260] (PARK19) DNAJC6 [HSA:9829] [KO:K09526] (PARK22) CHCHD2 [HSA:51142] [KO:K22758] (PARK23) VPS13C [HSA:54832] [KO:K19525] (PARK24) PSAP [HSA:5660] [KO:K12382] (PARK25) PTPA [HSA:5524] [KO:K17605] (PARK26) RAB32 [HSA:10981] [KO:K07918] (IDLDP) NR4A2 [HSA:4929] [KO:K08558] MAPT [HSA:4137] [KO:K04380] |
H00058 |
Amyotrophic lateral sclerosis (ALS) Lou Gehrig disease |
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with ... | Neurodegenerative disease | hsa05014 Amyotrophic lateral sclerosis |
(ALS1) SOD1 [HSA:6647] [KO:K04565] (ALS1) NEFH [HSA:4744] [KO:K04574] (ALS1) PRPH [HSA:5630] [KO:K07607] (ALS1) DCTN1 [HSA:1639] [KO:K04648] (ALS2) ALS2 [HSA:57679] [KO:K04575] (ALS4) SETX [HSA:23064] [KO:K10706] (ALS5) SPG11 [HSA:80208] [KO:K19026] (ALS6) FUS [HSA:2521] [KO:K13098] (ALS8) VAPB [HSA:9217] [KO:K10707] (ALS9) ANG [HSA:283] [KO:K16631] (ALS10) TARDBP [HSA:23435] [KO:K23600] (ALS11) FIG4 [HSA:9896] [KO:K22913] (ALS12) OPTN [HSA:10133] [KO:K19946] (ALS15) UBQLN2 [HSA:29978] [KO:K04523] (ALS16) SIGMAR1 [HSA:10280] [KO:K20719] (ALS18) PFN1 [HSA:5216] [KO:K05759] (ALS19) ERBB4 [HSA:2066] [KO:K05085] (ALS20) HNRNPA1 [HSA:3178] [KO:K12741] (ALS21) MATR3 [HSA:9782] [KO:K13213] (ALS22) TUBA4A [HSA:7277] [KO:K07374] (ALS23) ANXA11 [HSA:311] [KO:K17095] (ALS24) NEK1 [HSA:4750] [KO:K08857] (ALS25) KIF5A [HSA:3798] [KO:K10396] (ALS26) TIA1 [HSA:7072] [KO:K13201] (ALS27) SPTLC1 [HSA:10558] [KO:K00654] (ALS28) LRP12 [HSA:29967] [KO:K20050] (ALSPDC) TRPM7 [HSA:54822] [KO:K04982] (ALSPDC) MAPT [HSA:4137] [KO:K04380] |
H00077 |
Progressive supranuclear palsy Steele-Richardson-Olszewski syndrome |
Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an ... | Neurodegenerative disease | (PSNP1) MAPT [HSA:4137] [KO:K04380] | |
H00078 | Frontotemporal lobar degeneration | ... temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B) ... | 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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