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Entry | Name | Description | Category | Pathway | Gene |
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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] |
H00970 | Juvenile primary lateral sclerosis | ... primary lateral sclerosis is a sporadic disorder of adult middle age, this disease is also observed in children as JPLS. JPLS arises from dysfunction of the upper motoneurons and the causative gene is ALS2. | Neurodegenerative disease | ALS2 [HSA:57679] [KO:K04575] | |
H01172 | Infantile-onset ascending hereditary spastic paralysis | ... (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic lateral sclerosis (JALS) [DS:H00058] and juvenile primary ... | Nervous system disease | ALS2 [HSA:57679] [KO:K04575] | |
H01730 | Myocardial infarction | Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood ... | Cardiovascular disease |
ESR1 [HSA:2099] [KO:K08550] F13A1 [HSA:2162] [KO:K03917] F7 [HSA:2155] [KO:K01320] GCLC [HSA:2729] [KO:K11204] GCLM [HSA:2730] [KO:K11205] ITGB3 [HSA:3690] [KO:K06493] LRP8 [HSA:7804] [KO:K20052] LTA [HSA:4049] [KO:K05468] OLR1 [HSA:4973] [KO:K08763] PSMA6 [HSA:5687] [KO:K02730] TNFSF4 [HSA:7292] [KO:K05469] LGALS2 [HSA:3957] [KO:K10090] |
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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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