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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; superoxide dismutase (mutation) [HSA:6647] [KO:K04565]
(ALS1) NEFH; neurofilament (deletion/insertion) [HSA:4744] [KO:K04574]
(ALS1) PRPH; peripherin (deletion) [HSA:5630] [KO:K07607]
(ALS1) DCTN1; dynactin 1 (mutation) [HSA:1639] [KO:K04648]
(ALS2) ALS2; alsin (mutation) [HSA:57679] [KO:K04575]
(ALS4) SETX; senataxin (mutation) [HSA:23064] [KO:K10706]
(ALS5) SPG11 [HSA:80208] [KO:K19026]
(ALS6) FUS; fusion (mutation) [HSA:2521] [KO:K13098]
(ALS8) VAPB; VAMP-associated protein (mutation) [HSA:9217] [KO:K10707]
(ALS9) ANG; angiogenin (mutation) [HSA:283] [KO:K16631]
(ALS10) TARDBP; TAR DNA binding protein (mutation) [HSA:23435] [KO:K23600]
(ALS11) FIG4; FIG4 homolog (mutation) [HSA:9896] [KO:K22913]
(ALS12) OPTN; optineurin (mutation) [HSA:10133] [KO:K19946]
(ALS14) VCP [HSA:7415] [KO:K13525]
(ALS15) UBQLN2 [HSA:29978] [KO:K04523]
(ALS16) SIGMAR1 [HSA:10280] [KO:K20719]
(ALS17) CHMP2B [HSA:25978] [KO:K12192]
(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]
(FTD-ALS1) C9ORF72 [HSA:203228] [KO:K23609]
(FTD-ALS2) CHCHD10 [HSA:400916] [KO:K22759]
(FTD-ALS3) SQSTM1 [HSA:8878] [KO:K14381]
(FTD-ALS4) TBK1 [HSA:29110] [KO:K05410]
MAPT; microtubule-associated protein tau [HSA:4137] [KO:K04380]
GLE1 [HSA:2733] [KO:K18723]
(ALS/PDC) TRPM7 [HSA:54822] [KO:K04982]
H01235 Bleeding disorder platelet-type Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these ... Hematologic disease P2RY12 [HSA:64805] [KO:K04298]
ITGA2 [HSA:3673] [KO:K06481]
GP6 [HSA:51206] [KO:K06264]
TBXA2R [HSA:6915] [KO:K04264]
RASGRP2 [HSA:10235] [KO:K12361]
SLFN14 [HSA:342618] [KO:K24445]
FLI1 [HSA:2313] [KO:K09436]
H01260 Glomerulopathy with fibronectin deposits ... microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade of life. It has been reported that mutations in FN1, which encodes fibronectin, are the cause of GFND. Kidney disease hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
hsa04810 Regulation of actin cytoskeleton
FN1 [HSA:2335] [KO:K05717]
H02185 Spondylometaphyseal dysplasia The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski ... Congenital malformation (SMDK) TRPV4 [HSA:59341] [KO:K04973]
(SMDCF) FN1 [HSA:2335] [KO:K05717]
(SMDAX) CFAP410 [HSA:755] [KO:K23456]
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