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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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