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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
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] |
H00856 | Distal hereditary motor neuropathies | Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory ... | Nervous system disease |
(HMND2) HSPB8 [HSA:26353] [KO:K08879] (HMND3) HSPB1 [HSA:3315] [KO:K04455] (HMND4) HSPB3 [HSA:8988] [KO:K09544] (HMND5) GARS1 [HSA:2617] [KO:K01880] (HMND6) FBXO38 [HSA:81545] [KO:K10313] (HMND7) SLC5A7 [HSA:60482] [KO:K14387] (HMND8) TRPV4 [HSA:59341] [KO:K04973] (HMND9) WARS1 [HSA:7453] [KO:K01867] (HMND10) EMILIN1 [HSA:11117] [KO:K24246] (HMND11) SPTAN1 [HSA:6709] [KO:K06114] (HMND12/HMNR6) REEP1 [HSA:65055] [KO:K17338] (HMND13) BSCL2 [HSA:26580] [KO:K19365] (HMND14) DCTN1 [HSA:1639] [KO:K04648] (HMNR1) IGHMBP2 [HSA:3508] [KO:K19036] (HMNR2) SIGMAR1 [HSA:10280] [KO:K20719] (HMNR4) PLEKHG5 [HSA:57449] [KO:K19464] (HMNR5) DNAJB2 [HSA:3300] [KO:K09508] (HMNR7) VWA1 [HSA:64856] [KO:K24507] (HMNR8) SORD [HSA:6652] [KO:K00008] (HMNR9) COQ7 [HSA:10229] [KO:K06134] (HMNR10) VRK1 [HSA:7443] [KO:K08816] (HMNX) ATP7A [HSA:538] [KO:K17686] |
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