Showing entry for Lysosomal Storage Diseases


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD003118
Disease NameLysosomal Storage Diseases
Disease CUI IdC0085078
MeSH Codes C16   C18  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:0014667   DOID:630  
Disease Ontology Class Namedisease of metabolism; genetic disease
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00462 BXGT003925 Beta-mannosidase 4126 reviewed Enzyme
O00754 BXGT003944 Lysosomal alpha-mannosidase 4125 reviewed
O14773 BXGT004096 Tripeptidyl-peptidase 1 1200 reviewed Enzyme
O15118 BXGT004127 NPC intracellular cholesterol transporter 1 4864 reviewed Transporter
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
O15553 BXGT004181 Pyrin 4210 reviewed
O43451 BXGT004594 Maltase-glucoamylase, intestinal 8972 reviewed Enzyme
O43854 BXGT004630 EGF-like repeat and discoidin I-like domain-containing protein 3 10085 reviewed Enzyme
O60931 BXGT004911 Cystinosin 1497 reviewed
P04062 BXGT006140 Lysosomal acid glucosylceramidase 2629 reviewed
P04066 BXGT006142 Tissue alpha-L-fucosidase 2517 reviewed
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P05067 BXGT006306 Amyloid-beta precursor protein 351 reviewed Enzyme modulator
P06280 BXGT006433 Alpha-galactosidase A 2717 reviewed
P06865 BXGT006516 Beta-hexosaminidase subunit alpha 3073 reviewed Enzyme
P07339 BXGT006604 Cathepsin D 1509 reviewed Enzyme
P07602 BXGT006646 Prosaposin 5660 reviewed
P07686 BXGT006657 Beta-hexosaminidase subunit beta 3074 reviewed Enzyme
P07858 BXGT006689 Cathepsin B 1508 reviewed Enzyme
P08236 BXGT006752 Beta-glucuronidase 2990 reviewed
P10253 BXGT007550 Lysosomal alpha-glucosidase 2548 reviewed Enzyme
P10619 BXGT007589 Lysosomal protective protein 5476 reviewed Enzyme
P11717 BXGT007740 Cation-independent mannose-6-phosphate receptor 3482 reviewed Receptor
P14061 BXGT007979 Estradiol 17-beta-dehydrogenase 1 3292 reviewed Enzyme
P14410 BXGT008009 Sucrase-isomaltase, intestinal 6476 reviewed Enzyme
P15289 BXGT008102 Arylsulfatase A 410 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P15813 BXGT008158 Antigen-presenting glycoprotein CD1d 912 reviewed
P15848 BXGT008162 Arylsulfatase B 411 reviewed
P16278 BXGT008213 Beta-galactosidase 2720 reviewed Enzyme
P17405 BXGT008304 Sphingomyelin phosphodiesterase 6609 reviewed Enzyme
P20807 BXGT008601 Calpain-3 825 reviewed Enzyme
P20933 BXGT008618 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 175 reviewed Enzyme
P21730 BXGT008687 C5a anaphylatoxin chemotactic receptor 1 728 reviewed G-protein coupled receptor
P22304 BXGT008752 Iduronate 2-sulfatase 3423 reviewed
P22557 BXGT008783 5-aminolevulinate synthase, erythroid-specific, mitochondrial 212 reviewed Enzyme
P29016 BXGT009304 T-cell surface glycoprotein CD1b 910 reviewed
P30874 BXGT009475 Somatostatin receptor type 2 6752 reviewed G-protein coupled receptor
P33981 BXGT009744 Dual specificity protein kinase TTK 7272 reviewed Kinase
P34059 BXGT009749 N-acetylgalactosamine-6-sulfatase 2588 reviewed Enzyme
P34932 BXGT009772 Heat shock 70 kDa protein 4 3308 reviewed
P35475 BXGT009837 Alpha-L-iduronidase 3425 reviewed Enzyme
P37840 BXGT010015 Alpha-synuclein 6622 reviewed Transporter
P38571 BXGT010054 Lysosomal acid lipase/cholesteryl ester hydrolase 3988 reviewed Enzyme
P42345 BXGT010304 Serine/threonine-protein kinase mTOR 2475 reviewed Kinase
P42858 BXGT010341 Huntingtin 3064 reviewed
P48426 BXGT010630 Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha 5305 reviewed Kinase
P50897 BXGT010823 Palmitoyl-protein thioesterase 1 5538 reviewed Enzyme
P51688 BXGT010883 N-sulphoglucosamine sulphohydrolase 6448 reviewed Enzyme
P54646 BXGT011062 5'-AMP-activated protein kinase catalytic subunit alpha-2 5563 reviewed Kinase
P54802 BXGT011081 Alpha-N-acetylglucosaminidase 4669 reviewed
P54803 BXGT011082 Galactocerebrosidase 2581 reviewed
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
Q07869 BXGT012945 Peroxisome proliferator-activated receptor alpha 5465 reviewed Nuclear receptor
Q12794 BXGT013265 Hyaluronidase-1 3373 reviewed Enzyme
Q12809 BXGT013267 Potassium voltage-gated channel subfamily H member 2 3757 reviewed Ion channel
Q13131 BXGT013314 5'-AMP-activated protein kinase catalytic subunit alpha-1 5562 reviewed Kinase
Q13231 BXGT013329 Chitotriosidase-1 1118 reviewed
Q13510 BXGT013367 Acid ceramidase 427 reviewed Enzyme
Q15465 BXGT013573 Sonic hedgehog protein 6469 reviewed
Q2M385 BXGT014131 Macrophage-expressed gene 1 protein 219972 reviewed
Q8NBK3 BXGT018538 Formylglycine-generating enzyme 285362 reviewed
Q8NBP7 BXGT018541 Proprotein convertase subtilisin/kexin type 9 255738 reviewed Enzyme
Q8TDD5 BXGT018809 Mucolipin-3 55283 reviewed Ion channel
Q99519 BXGT019928 Sialidase-1 4758 reviewed Enzyme
Q9UMR5 BXGT021776 Lysosomal thioesterase PPT2 9374 reviewed Enzyme
Q9Y478 BXGT022271 5'-AMP-activated protein kinase subunit beta-1 5564 reviewed Kinase
A6NHC0 BXGT022690 Calpain-8 388743 reviewed
P31994 BXGT023298 Low affinity immunoglobulin gamma Fc region receptor II-b 2213 reviewed Cell adhesion
O60502 BXGT023392 Protein O-GlcNAcase 10724 reviewed
Q8IZK6 BXGT024225 Mucolipin-2 255231 reviewed Ion channel
P61916 BXGT025881 NPC intracellular cholesterol transporter 2 10577 reviewed
P51798 BXGT026083 H(+)/Cl(-) exchange transporter 7 1186 reviewed Ion channel
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease