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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]
H00168 Oculocutaneous albinism Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. Inherited metabolic disorder (OCA1) TYR [HSA:7299] [KO:K00505]
(OCA2) OCA2 [HSA:4948] [KO:K24200]
(OCA2) MC1R [HSA:4157] [KO:K04199]
(OCA3) TYRP1 [HSA:7306] [KO:K00506]
(OCA4) SLC45A2 [HSA:51151] [KO:K15378]
(OCA6) SLC24A5 [HSA:283652] [KO:K13753]
(OCA7) LRMDA [HSA:83938] [KO:K24399]
(OCA8) DCT [HSA:1638] [KO:K01827]
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]
(HMND15) BAG3 [HSA:9531] [KO:K09557]
(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:K28034]
(HMNR10) VRK1 [HSA:7443] [KO:K08816]
(HMNR11) RTN2 [HSA:6253] [KO:K20722]
(HMNX) ATP7A [HSA:538] [KO:K17686]
H00879 Perry syndrome ... (ALS) and some forms of frontotemporal lobar degeneration (FTLD). Perry syndrome has recently been identified as being due to mutations in the DCTN1 gene, encoding the component of the dynactin complex. Neurodegenerative disease DCTN1 [HSA:1639] [KO:K04648]
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