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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]
H00750 Keratosis pilaris atrophicans Keratosis pilaris atrophicans (KPA) is a group of follicular syndromes characterised by inflammation and atrophy. Three clinical entities of KPA are described, keratosis pilaris atrophicans faciei (KPAF) ... Congenital malformation (KFSDX) MBTPS2 [HSA:51360] [KO:K07765]
(KFSD) SAT1 [HSA:6303] [KO:K00657]
(KPA) LRP1 [HSA:4035] [KO:K04550]
H01372 Vitiligo ... of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo have recently been linked to polymorphisms in the innate immunity gene, NLRP1. Skin disease (VAMAS1) NLRP1 [HSA:22861] [KO:K12798]
(VAMAS2) FOXD3 [HSA:27022] [KO:K09397]
H02513 Oculopharyngodistal myopathy ... weakness of the masseter, facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 ... Musculoskeletal disease (OPDM1) LRP12 [HSA:29967] [KO:K20050]
(OPDM2) GIPC1 [HSA:10755] [KO:K20056]
(OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466]
(OPDM4) RILPL1 [HSA:353116] [KO:K20173]
H02588 NLRP1-associated autoinflammation with arthritis and dyskeratosis
Autoinflammation with arthritis and dyskeratosis 		NLRP1-associated autoinflammation with arthritis and dyskeratosis (NAIAD) is an autoinflammatory disease characterized by recurrent fever, arthritis, dyskeratosis, and slight autoimmunity. It has been ... Immune system disease NLRP1 [HSA:22861] [KO:K12798]
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